senataxin (SETX) - coding DNA reference sequence

(used for variant description)

(last modified June 9, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_015046.5 in the SETX gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007946.1, covering SETX transcript NM_015046.5.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5003
                                                          ctt       c.-181

 .         .         .         .         .         .                g.5063
 ccgctggtggcctagagcggggcccggtatggaggtgggctagaggccgacgccagccag       c.-121

 .      | 02  .         .         .         .         .             g.6284
 agagcg | aaatgttcttttggggccagagtctgggcatatatgaatgcaaatccgtgtttg    c.-61

 .         .         .         .         .         .   | 03         g.10557
 ttcacaactaagcccagctgagacgatcacttttctgtaggccatttgtccag | gtacaga    c.-1

          .         .         .         .         .         .       g.10617
 ATGAGCACATGTTGTTGGTGTACGCCAGGTGGTGCTTCCACCATTGACTTCCTAAAGCGC       c.60
 M  S  T  C  C  W  C  T  P  G  G  A  S  T  I  D  F  L  K  R         p.20

          .         .         .         .         .         .       g.10677
 TATGCTTCCAACACTCCGTCCGGTGAATTTCAAACAGCCGACGAAGACCTCTGCTACTGC       c.120
 Y  A  S  N  T  P  S  G  E  F  Q  T  A  D  E  D  L  C  Y  C         p.40

          .         .         .         .         .        | 04.    g.13517
 TTGGAGTGTGTGGCTGAGTACCACAAAGCAAGAGATGAATTGCCATTCTTGCATGAG | GTT    c.180
 L  E  C  V  A  E  Y  H  K  A  R  D  E  L  P  F  L  H  E   | V      p.60

          .         .         .         .         .         .       g.13577
 TTATGGGAATTAGAAACCTTACGTCTCATAAATCACTTTGAAAAATCCATGAAGGCAGAA       c.240
 L  W  E  L  E  T  L  R  L  I  N  H  F  E  K  S  M  K  A  E         p.80

          .         .         .         .         .         .       g.13637
 ATTGGAGATGATGATGAGTTATATATAGTAGACAATAATGGAGAGATGCCACTGTTTGAC       c.300
 I  G  D  D  D  E  L  Y  I  V  D  N  N  G  E  M  P  L  F  D         p.100

          .         .         .         .         .         .       g.13697
 ATCACTGGGCAAGACTTTGAAAATAAGCTTCGAGTTCCTCTTCTTGAAATACTGAAATAT       c.360
 I  T  G  Q  D  F  E  N  K  L  R  V  P  L  L  E  I  L  K  Y         p.120

          .         .         | 05         .         .         .    g.17218
 CCTTACTTGCTTCTACATGAACGTGTTA | ACGAGTTATGTGTTGAAGCACTTTGTCGGATG    c.420
 P  Y  L  L  L  H  E  R  V  N |   E  L  C  V  E  A  L  C  R  M      p.140

          .         .         .         .         .         .       g.17278
 GAACAAGCCAATTGCTCCTTTCAGGTGTTTGATAAACATCCAGGGATCTATTTGTTTTTA       c.480
 E  Q  A  N  C  S  F  Q  V  F  D  K  H  P  G  I  Y  L  F  L         p.160

          .         | 06         .         .         .         .    g.23512
 GTCCATCCCAATGAAATG | GTTCGGCGTTGGGCTATCTTGACTGCAAGAAACTTGGGGAAA    c.540
 V  H  P  N  E  M   | V  R  R  W  A  I  L  T  A  R  N  L  G  K      p.180

          .         .         .         .         .         .       g.23572
 GTGGACAGAGATGATTATTATGACTTACAAGAAGTTTTACTTTGCCTTTTTAAAGTCATT       c.600
 V  D  R  D  D  Y  Y  D  L  Q  E  V  L  L  C  L  F  K  V  I         p.200

          .         .         .         .         .         .       g.23632
 GAGTTGGGGCTTTTAGAGAGTCCAGACATTTATACTTCTTCTGTCCTAGAGAAGGGTAAA       c.660
 E  L  G  L  L  E  S  P  D  I  Y  T  S  S  V  L  E  K  G  K         p.220

          .         .         .         .         .         | 07    g.25260
 CTGATTCTTCTGCCCTCACACATGTATGATACTACCAACTACAAAAGCTATTGGTTAG | GT    c.720
 L  I  L  L  P  S  H  M  Y  D  T  T  N  Y  K  S  Y  W  L  G |       p.240

          .         .         .         .         .         .       g.25320
 ATTTGCATGTTGCTGACCATTCTTGAGGAACAAGCCATGGATTCCCTGTTGTTGGGCTCA       c.780
 I  C  M  L  L  T  I  L  E  E  Q  A  M  D  S  L  L  L  G  S         p.260

          .         .         .         .         .         | 08    g.28539
 GACAAACAAAATGATTTTATGCAATCGATACTTCACACTATGGAGAGGGAAGCAGATG | AT    c.840
 D  K  Q  N  D  F  M  Q  S  I  L  H  T  M  E  R  E  A  D  D |       p.280

          .         .         .         .         .         .       g.28599
 GATAGTGTGGATCCTTTCTGGCCAGCGTTACACTGTTTTATGGTGATTCTGGATCGCCTT       c.900
 D  S  V  D  P  F  W  P  A  L  H  C  F  M  V  I  L  D  R  L         p.300

          .         .         .         .         .         .       g.28659
 GGATCTAAGGTCTGGGGTCAACTTATGGATCCTATTGTGGCATTTCAAACCATTATCAAC       c.960
 G  S  K  V  W  G  Q  L  M  D  P  I  V  A  F  Q  T  I  I  N         p.320

          .         .         .         .         . | 09       .    g.28856
 AACGCAAGCTACAATAGAGAGATCCGACATATACGGAACAGCTCTGTAAG | GACCAAGTTA    c.1020
 N  A  S  Y  N  R  E  I  R  H  I  R  N  S  S  V  R  |  T  K  L      p.340

          .         .         .         .         .         .       g.28916
 GAACCGGAGTCCTATTTGGATGATATGGTGACTTGCAGCCAGATCGTATACAATTATAAT       c.1080
 E  P  E  S  Y  L  D  D  M  V  T  C  S  Q  I  V  Y  N  Y  N         p.360

          .         | 10         .         .         .         .    g.29528
 CCTGAAAAGACCAAAAAG | GATTCTGGATGGAGAACAGCCATTTGCCCAGATTATTGTCCT    c.1140
 P  E  K  T  K  K   | D  S  G  W  R  T  A  I  C  P  D  Y  C  P      p.380

          .         .         .         .         .         .       g.29588
 AACATGTATGAAGAAATGGAAACATTAGCCAGTGTACTTCAGTCAGATATTGGTCAAGAC       c.1200
 N  M  Y  E  E  M  E  T  L  A  S  V  L  Q  S  D  I  G  Q  D         p.400

          .         .         .         .         .         .       g.29648
 ATGCGTGTTCATAACAGCACATTTCTATGGTTCATCCCTTTTGTCCAGTCCCTCATGGAT       c.1260
 M  R  V  H  N  S  T  F  L  W  F  I  P  F  V  Q  S  L  M  D         p.420

          .         .         .         .         .         .       g.29708
 CTTAAGGATTTGGGTGTGGCTTACATAGCACAGGTTGTTAATCATCTGTACTCTGAAGTC       c.1320
 L  K  D  L  G  V  A  Y  I  A  Q  V  V  N  H  L  Y  S  E  V         p.440

          .         .         .         .         .         .       g.29768
 AAAGAAGTCCTCAACCAAACAGATGCTGTGTGTGACAAAGTCACTGAATTTTTTCTTCTA       c.1380
 K  E  V  L  N  Q  T  D  A  V  C  D  K  V  T  E  F  F  L  L         p.460

          .         .         .         .         .         .       g.29828
 ATTTTGGTATCAGTGATTGAACTGCATAGAAATAAAAAATGTTTGCATTTGCTGTGGGTA       c.1440
 I  L  V  S  V  I  E  L  H  R  N  K  K  C  L  H  L  L  W  V         p.480

          .         .         .         .         .         .       g.29888
 AGTTCCCAGCAATGGGTGGAAGCCGTCGTCAAATGTGCCAAGCTTCCTACCACTGCGTTT       c.1500
 S  S  Q  Q  W  V  E  A  V  V  K  C  A  K  L  P  T  T  A  F         p.500

          .         .         .         .         .         .       g.29948
 ACACGGAGTTCTGAGAAATCATCTGGAAATTGCTCCAAAGGAACAGCAATGATATCTTCA       c.1560
 T  R  S  S  E  K  S  S  G  N  C  S  K  G  T  A  M  I  S  S         p.520

          .         .         .         .         .         .       g.30008
 CTGTCATTGCATTCCATGCCATCTAACTCTGTACAACTTGCTTATGTGCAGCTGATTAGA       c.1620
 L  S  L  H  S  M  P  S  N  S  V  Q  L  A  Y  V  Q  L  I  R         p.540

          .         .         .         .         .         .       g.30068
 AGTCTCCTTAAAGAAGGTTATCAGCTTGGGCAGCAGTCTCTTTGCAAGCGATTCTGGGAT       c.1680
 S  L  L  K  E  G  Y  Q  L  G  Q  Q  S  L  C  K  R  F  W  D         p.560

          .         .         .         .         .         .       g.30128
 AAGCTCAACTTATTCCTTAGAGGAAATTTATCTCTAGGTTGGCAGTTGACTAGTCAGGAA       c.1740
 K  L  N  L  F  L  R  G  N  L  S  L  G  W  Q  L  T  S  Q  E         p.580

          .         .         .         .         .         .       g.30188
 ACCCATGAGCTACAAAGTTGCTTAAAGCAAATTATTAGAAACATAAAATTCAAAGCACCT       c.1800
 T  H  E  L  Q  S  C  L  K  Q  I  I  R  N  I  K  F  K  A  P         p.600

          .         .         .         .         .         .       g.30248
 CCATGTAACACTTTTGTGGATCTGACTTCTGCATGTAAAATCTCTCCTGCATCTTATAAT       c.1860
 P  C  N  T  F  V  D  L  T  S  A  C  K  I  S  P  A  S  Y  N         p.620

          .         .         .         .         .         .       g.30308
 AAAGAAGAAAGTGAACAAATGGGGAAGACGTCTAGAAAAGATATGCATTGTTTGGAAGCT       c.1920
 K  E  E  S  E  Q  M  G  K  T  S  R  K  D  M  H  C  L  E  A         p.640

          .         .         .         .         .         .       g.30368
 TCCAGCCCAACATTTTCTAAAGAACCAATGAAAGTGCAAGACAGTGTATTGATCAAAGCA       c.1980
 S  S  P  T  F  S  K  E  P  M  K  V  Q  D  S  V  L  I  K  A         p.660

          .         .         .         .         .         .       g.30428
 GATAACACTATAGAAGGTGACAATAATGAGCAAAATTATATAAAGGATGTGAAACTAGAG       c.2040
 D  N  T  I  E  G  D  N  N  E  Q  N  Y  I  K  D  V  K  L  E         p.680

          .         .         .         .         .         .       g.30488
 GACCATCTCTTAGCTGGGTCATGCTTAAAGCAGAGTAGTAAAAACATTTTTACTGAAAGA       c.2100
 D  H  L  L  A  G  S  C  L  K  Q  S  S  K  N  I  F  T  E  R         p.700

          .         .         .         .         .         .       g.30548
 GCTGAAGATCAAATTAAAATAAGTACAAGGAAGCAGAAGTCTGTAAAAGAGATCTCTTCA       c.2160
 A  E  D  Q  I  K  I  S  T  R  K  Q  K  S  V  K  E  I  S  S         p.720

          .         .         .         .         .         .       g.30608
 TATACACCAAAGGACTGTACTTCAAGAAATGGTCCAGAAAGGGGATGTGACAGAGGAATA       c.2220
 Y  T  P  K  D  C  T  S  R  N  G  P  E  R  G  C  D  R  G  I         p.740

          .         .         .         .         .         .       g.30668
 ATAGTATCAACACGTTTGTTGACTGATTCTAGCACTGATGCTTTGGAAAAAGTGTCCACA       c.2280
 I  V  S  T  R  L  L  T  D  S  S  T  D  A  L  E  K  V  S  T         p.760

          .         .         .         .         .         .       g.30728
 TCGAATGAAGATTTCTCTTTAAAGGATGATGCTCTTGCTAAAACCTCAAAACGAAAAACT       c.2340
 S  N  E  D  F  S  L  K  D  D  A  L  A  K  T  S  K  R  K  T         p.780

          .         .         .         .         .         .       g.30788
 AAGGTACAGAAAGATGAAATCTGTGCAAAGTTATCACATGTAATAAAGAAGCAACACAGG       c.2400
 K  V  Q  K  D  E  I  C  A  K  L  S  H  V  I  K  K  Q  H  R         p.800

          .         .         .         .         .         .       g.30848
 AAGAGTACTTTGGTCGATAATACTATCAATTTAGATGAAAATTTGACTGTATCTAACATT       c.2460
 K  S  T  L  V  D  N  T  I  N  L  D  E  N  L  T  V  S  N  I         p.820

          .         .         .         .         .         .       g.30908
 GAGAGTTTCTATTCAAGGAAAGATACAGGAGTTCAGAAAGGAGATGGTTTCATACACAAT       c.2520
 E  S  F  Y  S  R  K  D  T  G  V  Q  K  G  D  G  F  I  H  N         p.840

          .         .         .         .         .         .       g.30968
 CTTTCTTTAGACCCTAGTGGTGTTCTGGATGATAAGAATGGAGAACAAAAATCTCAAAAC       c.2580
 L  S  L  D  P  S  G  V  L  D  D  K  N  G  E  Q  K  S  Q  N         p.860

          .         .         .         .         .         .       g.31028
 AATGTATTGCCAAAAGAGAAACAATTAAAGAATGAAGAATTAGTTATTTTCTCTTTCCAT       c.2640
 N  V  L  P  K  E  K  Q  L  K  N  E  E  L  V  I  F  S  F  H         p.880

          .         .         .         .         .         .       g.31088
 GAAAACAATTGTAAAATACAGGAATTTCATGTTGATGGTAAAGAATTGATCCCTTTTACA       c.2700
 E  N  N  C  K  I  Q  E  F  H  V  D  G  K  E  L  I  P  F  T         p.900

          .         .         .         .         .         .       g.31148
 GAAATGACCAATGCTTCAGAGAAGAAATCATCTCCCTTTAAAGATCTTATGACTGTACCT       c.2760
 E  M  T  N  A  S  E  K  K  S  S  P  F  K  D  L  M  T  V  P         p.920

          .         .         .         .         .         .       g.31208
 GAATCAAGAGATGAGGAGATGAGTAATAGTACCAGTGTGATTTATTCTAACTTGACAAGA       c.2820
 E  S  R  D  E  E  M  S  N  S  T  S  V  I  Y  S  N  L  T  R         p.940

          .         .         .         .         .         .       g.31268
 GAACAGGCCCCTGACATCAGTCCTAAATCTGACACCTTAACGGATTCTCAGATAGACAGA       c.2880
 E  Q  A  P  D  I  S  P  K  S  D  T  L  T  D  S  Q  I  D  R         p.960

          .         .         .         .         .         .       g.31328
 GACCTTCACAAATTATCTTTACTAGCTCAAGCCAGTGTTATTACGTTCCCATCCGATTCA       c.2940
 D  L  H  K  L  S  L  L  A  Q  A  S  V  I  T  F  P  S  D  S         p.980

          .         .         .         .         .         .       g.31388
 CCTCAGAACTCATCGCAGCTGCAAAGGAAAGTAAAAGAAGATAAAAGATGTTTCACAGCT       c.3000
 P  Q  N  S  S  Q  L  Q  R  K  V  K  E  D  K  R  C  F  T  A         p.1000

          .         .         .         .         .         .       g.31448
 AACCAAAATAATGTTGGAGATACCTCCCGTGGACAGGTTATTATTATTTCAGATTCTGAT       c.3060
 N  Q  N  N  V  G  D  T  S  R  G  Q  V  I  I  I  S  D  S  D         p.1020

          .         .         .         .         .         .       g.31508
 GATGATGATGATGAAAGAATCCTGAGTCTTGAGAAACTCACTAAACAGGACAAAATATGC       c.3120
 D  D  D  D  E  R  I  L  S  L  E  K  L  T  K  Q  D  K  I  C         p.1040

          .         .         .         .         .         .       g.31568
 CTTGAGAGGGAACATCCAGAGCAGCACGTTTCAACAGTTAATAGTAAGGAGGAAAAGAAT       c.3180
 L  E  R  E  H  P  E  Q  H  V  S  T  V  N  S  K  E  E  K  N         p.1060

          .         .         .         .         .         .       g.31628
 CCAGTAAAGGAAGAAAAGACAGAGACTCTTTTTCAGTTTGAGGAATCTGATTCTCAGTGT       c.3240
 P  V  K  E  E  K  T  E  T  L  F  Q  F  E  E  S  D  S  Q  C         p.1080

          .         .         .         .         .         .       g.31688
 TTTGAGTTTGAAAGTTCATCTGAAGTGTTTTCAGTTTGGCAAGATCATCCAGACGATAAT       c.3300
 F  E  F  E  S  S  S  E  V  F  S  V  W  Q  D  H  P  D  D  N         p.1100

          .         .         .         .         .         .       g.31748
 AATTCAGTTCAAGATGGTGAGAAAAAATGTTTGGCTCCTATAGCCAATACTACAAATGGT       c.3360
 N  S  V  Q  D  G  E  K  K  C  L  A  P  I  A  N  T  T  N  G         p.1120

          .         .         .         .         .         .       g.31808
 CAGGGTTGTACAGATTATGTATCTGAAGTTGTTAAAAAAGGAGCAGAGGGCATTGAAGAA       c.3420
 Q  G  C  T  D  Y  V  S  E  V  V  K  K  G  A  E  G  I  E  E         p.1140

          .         .         .         .         .         .       g.31868
 CACACAAGACCACGGAGTATTTCTGTTGAAGAATTTTGTGAAATTGAAGTAAAAAAGCCT       c.3480
 H  T  R  P  R  S  I  S  V  E  E  F  C  E  I  E  V  K  K  P         p.1160

          .         .         .         .         .         .       g.31928
 AAGAGAAAACGATCTGAAAAACCAATGGCTGAAGATCCTGTGAGGCCTTCATCTTCTGTC       c.3540
 K  R  K  R  S  E  K  P  M  A  E  D  P  V  R  P  S  S  S  V         p.1180

          .         .         .         .         .         .       g.31988
 AGAAATGAGGGCCAGTCTGATACTAATAAGAGAGATCTTGTGGGAAATGATTTTAAAAGT       c.3600
 R  N  E  G  Q  S  D  T  N  K  R  D  L  V  G  N  D  F  K  S         p.1200

          .         .         .         .         .         .       g.32048
 ATTGATAGAAGGACTTCAACTCCCAATTCACGTATTCAGAGAGCCACTACGGTTTCACAA       c.3660
 I  D  R  R  T  S  T  P  N  S  R  I  Q  R  A  T  T  V  S  Q         p.1220

          .         .         .         .         .         .       g.32108
 AAGAAGTCTTCAAAGCTTTGTACTTGTACAGAACCCATCAGGAAAGTTCCAGTTTCTAAG       c.3720
 K  K  S  S  K  L  C  T  C  T  E  P  I  R  K  V  P  V  S  K         p.1240

          .         .         .         .         .         .       g.32168
 ACCCCTAAGAAAACTCATTCAGATGCCAAAAAAGGACAGAATAGAAGTTCAAATTACCTA       c.3780
 T  P  K  K  T  H  S  D  A  K  K  G  Q  N  R  S  S  N  Y  L         p.1260

          .         .         .         .         .         .       g.32228
 AGTTGTAGAACAACTCCTGCTATAGTGCCGCCAAAGAAATTTCGTCAGTGTCCTGAGCCA       c.3840
 S  C  R  T  T  P  A  I  V  P  P  K  K  F  R  Q  C  P  E  P         p.1280

          .         .         .         .         .         .       g.32288
 ACTTCAACAGCTGAGAAACTTGGCCTGAAAAAGGGTCCTCGTAAGGCATATGAGTTGTCC       c.3900
 T  S  T  A  E  K  L  G  L  K  K  G  P  R  K  A  Y  E  L  S         p.1300

          .         .         .         .         .         .       g.32348
 CAGCGGTCTTTGGATTATGTAGCTCAATTACGTGATCATGGCAAAACTGTTGGAGTAGTT       c.3960
 Q  R  S  L  D  Y  V  A  Q  L  R  D  H  G  K  T  V  G  V  V         p.1320

          .         .         .         .         .         .       g.32408
 GATACCCGAAAAAAGACTAAATTAATTTCTCCTCAGAACCTGTCTGTCAGAAATAATAAG       c.4020
 D  T  R  K  K  T  K  L  I  S  P  Q  N  L  S  V  R  N  N  K         p.1340

          .         .         .         .         .         .       g.32468
 AAACTTCTGACTAGTCAAGAACTTCAGATGCAAAGGCAGATCAGACCCAAATCACAAAAA       c.4080
 K  L  L  T  S  Q  E  L  Q  M  Q  R  Q  I  R  P  K  S  Q  K         p.1360

          .         .         .         .         .         .       g.32528
 AATAGACGAAGACTTTCTGATTGTGAAAGTACAGATGTTAAAAGAGCAGGGTCACATACA       c.4140
 N  R  R  R  L  S  D  C  E  S  T  D  V  K  R  A  G  S  H  T         p.1380

          .         .         .         .         .         .       g.32588
 GCACAGAATTCTGACATATTTGTACCAGAATCTGATAGGTCAGATTATAATTGTACAGGA       c.4200
 A  Q  N  S  D  I  F  V  P  E  S  D  R  S  D  Y  N  C  T  G         p.1400

          .         .         .         .         .         .       g.32648
 GGAACTGAGGTACTTGCCAACAGTAACAGAAAACAGTTAATAAAATGCATGCCTTCTGAA       c.4260
 G  T  E  V  L  A  N  S  N  R  K  Q  L  I  K  C  M  P  S  E         p.1420

          .         .         .         .         .         .       g.32708
 CCAGAAACCATAAAAGCAAAACATGGGTCTCCAGCAACTGATGATGCTTGCCCTTTGAAC       c.4320
 P  E  T  I  K  A  K  H  G  S  P  A  T  D  D  A  C  P  L  N         p.1440

          .         .         .         .         .         .       g.32768
 CAGTGTGATTCTGTAGTGTTAAATGGAACAGTACCAACAAATGAAGTAATTGTCTCCACT       c.4380
 Q  C  D  S  V  V  L  N  G  T  V  P  T  N  E  V  I  V  S  T         p.1460

          .         .         .         .         .         .       g.32828
 TCAGAAGACCCTCTGGGTGGAGGTGATCCAACAGCACGTCATATAGAGATGGCAGCTTTG       c.4440
 S  E  D  P  L  G  G  G  D  P  T  A  R  H  I  E  M  A  A  L         p.1480

          .         .         .         .         .         .       g.32888
 AAAGAAGGAGAGCCTGACTCCAGCAGTGATGCAGAGGAAGATAACTTATTTTTAACCCAA       c.4500
 K  E  G  E  P  D  S  S  S  D  A  E  E  D  N  L  F  L  T  Q         p.1500

          .         .         .         .         .         .       g.32948
 AATGATCCTGAAGATATGGATTTATGTTCACAAATGGAGAATGACAATTATAAACTCATT       c.4560
 N  D  P  E  D  M  D  L  C  S  Q  M  E  N  D  N  Y  K  L  I         p.1520

          .         .         .         .         .         .       g.33008
 GAACTAATTCATGGAAAAGATACAGTTGAGGTTGAAGAAGATTCTGTAAGTCGGCCTCAG       c.4620
 E  L  I  H  G  K  D  T  V  E  V  E  E  D  S  V  S  R  P  Q         p.1540

          .         .         .         .         .         .       g.33068
 TTGGAATCTTTGAGTGGCACAAAGTGTAAGTACAAAGATTGTCTTGAAACCACAAAAAAC       c.4680
 L  E  S  L  S  G  T  K  C  K  Y  K  D  C  L  E  T  T  K  N         p.1560

          .         .         .         .         .         .       g.33128
 CAGGGTGAATACTGCCCAAAACACTCTGAAGTGAAAGCAGCAGATGAAGATGTATTTCGT       c.4740
 Q  G  E  Y  C  P  K  H  S  E  V  K  A  A  D  E  D  V  F  R         p.1580

          .         .         .         .         .         .       g.33188
 AAACCTGGCTTGCCTCCTCCTGCATCTAAACCTTTGAGACCTACCACTAAGATTTTTAGC       c.4800
 K  P  G  L  P  P  P  A  S  K  P  L  R  P  T  T  K  I  F  S         p.1600

          .         .         .         .         .         .       g.33248
 TCAAAGAGTACTTCACGAATTGCTGGTCTTTCTAAATCTTTGGAAACTTCTTCAGCACTT       c.4860
 S  K  S  T  S  R  I  A  G  L  S  K  S  L  E  T  S  S  A  L         p.1620

          .         .         .         .         .         .       g.33308
 TCACCGTCTCTAAAAAATAAGTCAAAGGGGATACAGTCGATTTTGAAAGTACCACAGCCA       c.4920
 S  P  S  L  K  N  K  S  K  G  I  Q  S  I  L  K  V  P  Q  P         p.1640

          .         .         .         .         .         .       g.33368
 GTTCCCCTCATAGCTCAGAAGCCAGTTGGTGAAATGAAGAATTCGTGCAATGTTCTTCAT       c.4980
 V  P  L  I  A  Q  K  P  V  G  E  M  K  N  S  C  N  V  L  H         p.1660

          .         .         .         .         .         .       g.33428
 CCTCAGTCTCCGAATAATTCCAACAGGCAAGGTTGCAAAGTTCCATTTGGTGAAAGCAAA       c.5040
 P  Q  S  P  N  N  S  N  R  Q  G  C  K  V  P  F  G  E  S  K         p.1680

          .         .         .         .         .         .       g.33488
 TATTTTCCATCTTCCTCTCCAGTAAACATTCTTTTGTCATCACAGTCTGTCTCTGACACC       c.5100
 Y  F  P  S  S  S  P  V  N  I  L  L  S  S  Q  S  V  S  D  T         p.1700

          .         .         .         .         .         .       g.33548
 TTCGTTAAAGAGGTCTTAAAATGGAAATATGAAATGTTTTTGAACTTTGGTCAGTGTGGG       c.5160
 F  V  K  E  V  L  K  W  K  Y  E  M  F  L  N  F  G  Q  C  G         p.1720

          .         .         .         .         .         .       g.33608
 CCCCCTGCAAGTCTTTGTCAGTCCATCTCAAGACCTGTGCCTGTCAGATTTCACAATTAT       c.5220
 P  P  A  S  L  C  Q  S  I  S  R  P  V  P  V  R  F  H  N  Y         p.1740

          .         .         .         .         .     | 11   .    g.48135
 GGAGATTATTTTAATGTTTTTTTCCCTTTGATGGTATTGAATACTTTTGAAACA | GTGGCA    c.5280
 G  D  Y  F  N  V  F  F  P  L  M  V  L  N  T  F  E  T   | V  A      p.1760

          .         .         .         .         .         .       g.48195
 CAAGAATGGCTCAACTCTCCAAATAGAGAGAATTTCTATCAGTTGCAAGTACGAAAATTT       c.5340
 Q  E  W  L  N  S  P  N  R  E  N  F  Y  Q  L  Q  V  R  K  F         p.1780

          .         .         .     | 12   .         .         .    g.59208
 CCTGCCGATTATATAAAATACTGGGAGTTTGCAG | TTTATCTGGAAGAATGTGAACTGGCT    c.5400
 P  A  D  Y  I  K  Y  W  E  F  A  V |   Y  L  E  E  C  E  L  A      p.1800

          .         .         .         .         .         .       g.59268
 AAACAGCTTTATCCAAAGGAAAACGATTTGGTGTTTTTAGCTCCTGAGAGAATAAATGAA       c.5460
 K  Q  L  Y  P  K  E  N  D  L  V  F  L  A  P  E  R  I  N  E         p.1820

          .         .         .         .         .         .       g.59328
 GAGAAGAAAGATACAGAGAGAAATGACATACAAGATCTCCACGAATATCATTCTGGTTAT       c.5520
 E  K  K  D  T  E  R  N  D  I  Q  D  L  H  E  Y  H  S  G  Y         p.1840

          .         .         | 13         .         .         .    g.61705
 GTTCATAAATTTCGCCGCACGTCAGTCA | TGCGTAATGGGAAAACTGAGTGTTACCTTTCC    c.5580
 V  H  K  F  R  R  T  S  V  M |   R  N  G  K  T  E  C  Y  L  S      p.1860

          .         .         .         .         .         .       g.61765
 ATCCAGACTCAAGAGAACTTTCCGGCCAATTTAAACGAACTTGTGAATTGTATTGTAATC       c.5640
 I  Q  T  Q  E  N  F  P  A  N  L  N  E  L  V  N  C  I  V  I         p.1880

          .         .         .         .         .         .       g.61825
 AGTTCTCTGGTAACTACACAAAGGAAGTTGAAAGCCATGTCTCTGTTGGGTAGTCGGAAC       c.5700
 S  S  L  V  T  T  Q  R  K  L  K  A  M  S  L  L  G  S  R  N         p.1900

          .         .         .         .         .         .       g.61885
 CAACTGGCTAGAGCTGTTCTGAATCCAAACCCTATGGACTTCTGTACAAAAGATTTACTG       c.5760
 Q  L  A  R  A  V  L  N  P  N  P  M  D  F  C  T  K  D  L  L         p.1920

          .         .  | 14      .         .         .         .    g.62970
 ACTACAACATCTGAGAGAATT | ATTGCGTACTTAAGAGATTTCAATGAAGATCAAAAGAAA    c.5820
 T  T  T  S  E  R  I   | I  A  Y  L  R  D  F  N  E  D  Q  K  K      p.1940

          .         .         .         .         .         .       g.63030
 GCAATAGAAACTGCATATGCTATGGTGAAACACTCACCATCAGTTGCCAAAATCTGCTTG       c.5880
 A  I  E  T  A  Y  A  M  V  K  H  S  P  S  V  A  K  I  C  L         p.1960

          .         .         .         .         .         .       g.63090
 ATTCATGGACCACCTGGAACAGGAAAATCAAAAACTATTGTTGGCCTCCTCTATCGTCTA       c.5940
 I  H  G  P  P  G  T  G  K  S  K  T  I  V  G  L  L  Y  R  L         p.1980

           | 15        .         .         .         .         .    g.64008
 CTGACAGAG | AACCAGAGGAAGGGGCATTCAGACGAAAACTCCAATGCCAAAATCAAACAA    c.6000
 L  T  E   | N  Q  R  K  G  H  S  D  E  N  S  N  A  K  I  K  Q      p.2000

          .         .         .         .         .         .       g.64068
 AACCGTGTCCTCGTGTGTGCACCTTCCAATGCAGCTGTTGATGAACTCATGAAAAAAATT       c.6060
 N  R  V  L  V  C  A  P  S  N  A  A  V  D  E  L  M  K  K  I         p.2020

          .         .         .         .       | 16 .         .    g.71348
 ATCCTTGAATTCAAAGAAAAATGTAAAGACAAGAAGAATCCTTTAG | GAAACTGTGGAGAT    c.6120
 I  L  E  F  K  E  K  C  K  D  K  K  N  P  L  G |   N  C  G  D      p.2040

          .         .         .         .         .         .       g.71408
 ATAAATTTAGTACGACTGGGTCCAGAAAAGTCTATTAATAGTGAGGTTCTAAAGTTCAGT       c.6180
 I  N  L  V  R  L  G  P  E  K  S  I  N  S  E  V  L  K  F  S         p.2060

          .         .         | 17         .         .         .    g.71666
 TTGGACAGCCAAGTAAACCACAGAATGA | AAAAAGAGTTACCTTCTCATGTTCAGGCGATG    c.6240
 L  D  S  Q  V  N  H  R  M  K |   K  E  L  P  S  H  V  Q  A  M      p.2080

          .         .         .         .         .         .       g.71726
 CATAAAAGAAAGGAATTTCTAGATTATCAGCTGGATGAGCTTTCCCGGCAGCGAGCTCTA       c.6300
 H  K  R  K  E  F  L  D  Y  Q  L  D  E  L  S  R  Q  R  A  L         p.2100

          .         .     | 18   .         .         .         .    g.73527
 TGCCGAGGTGGACGGGAAATACAG | AGGCAAGAATTAGATGAAAACATTTCCAAAGTTTCT    c.6360
 C  R  G  G  R  E  I  Q   | R  Q  E  L  D  E  N  I  S  K  V  S      p.2120

          .         .         .       | 19 .         .         .    g.76596
 AAGGAAAGGCAGGAACTTGCTTCTAAAATTAAAGAG | GTTCAAGGACGCCCACAGAAAACA    c.6420
 K  E  R  Q  E  L  A  S  K  I  K  E   | V  Q  G  R  P  Q  K  T      p.2140

          .         .         .         .         .         .       g.76656
 CAGAGTATCATCATCTTAGAGTCCCATATCATCTGCTGCACGTTGAGCACAAGTGGTGGT       c.6480
 Q  S  I  I  I  L  E  S  H  I  I  C  C  T  L  S  T  S  G  G         p.2160

          .         .         .         .         .         .       g.76716
 TTACTACTTGAGTCTGCTTTCCGTGGGCAAGGGGGTGTCCCCTTCAGCTGTGTCATTGTT       c.6540
 L  L  L  E  S  A  F  R  G  Q  G  G  V  P  F  S  C  V  I  V         p.2180

        | 20 .         .         .         .         .         .    g.78465
 GATGAG | GCTGGACAGTCTTGTGAAATTGAGACTCTTACTCCACTCATCCATCGCTGCAAT    c.6600
 D  E   | A  G  Q  S  C  E  I  E  T  L  T  P  L  I  H  R  C  N      p.2200

          .         .         .         .         .     | 21   .    g.81734
 AAGCTCATCCTAGTAGGAGATCCTAAGCAGCTCCCTCCGACAGTCATCTCTATG | AAAGCA    c.6660
 K  L  I  L  V  G  D  P  K  Q  L  P  P  T  V  I  S  M   | K  A      p.2220

          .         .         .         .         .         .       g.81794
 CAGGAGTATGGCTACGACCAGTCAATGATGGCTCGCTTCTGCAGACTGCTGGAAGAGAAT       c.6720
 Q  E  Y  G  Y  D  Q  S  M  M  A  R  F  C  R  L  L  E  E  N         p.2240

          .         .         .         .         .         .       g.81854
 GTAGAACACAACATGATCAGCAGGCTGCCCATTCTACAGCTCACTGTTCAGTACAGGATG       c.6780
 V  E  H  N  M  I  S  R  L  P  I  L  Q  L  T  V  Q  Y  R  M         p.2260

          .         .         .         .         .         .       g.81914
 CATCCAGACATATGCCTCTTCCCTTCTAATTATGTTTATAACAGAAACTTAAAAACAAAT       c.6840
 H  P  D  I  C  L  F  P  S  N  Y  V  Y  N  R  N  L  K  T  N         p.2280

    | 22     .         .         .         .         .         .    g.82891
 AG | ACAGACAGAAGCCATTCGATGTTCATCAGATTGGCCATTTCAGCCATACCTTGTGTTT    c.6900
 R  |  Q  T  E  A  I  R  C  S  S  D  W  P  F  Q  P  Y  L  V  F      p.2300

          .         .         .      | 23  .         .         .    g.84590
 GATGTTGGAGATGGTTCAGAAAGACGGGATAATGA | CTCATATATAAATGTTCAAGAAATA    c.6960
 D  V  G  D  G  S  E  R  R  D  N  D  |  S  Y  I  N  V  Q  E  I      p.2320

          .         .         .         .         .         .       g.84650
 AAACTGGTGATGGAAATAATTAAGCTTATTAAAGACAAAAGAAAGGATGTTAGTTTTCGA       c.7020
 K  L  V  M  E  I  I  K  L  I  K  D  K  R  K  D  V  S  F  R         p.2340

          .         .         .         .         .         .       g.84710
 AACATTGGCATAATAACTCATTACAAGGCCCAGAAGACGATGATTCAGAAGGATTTGGAC       c.7080
 N  I  G  I  I  T  H  Y  K  A  Q  K  T  M  I  Q  K  D  L  D         p.2360

          .         . | 24       .         .         .         .    g.88217
 AAAGAGTTCGATAGAAAAGG | ACCAGCAGAAGTAGACACTGTGGATGCATTCCAGGGTCGG    c.7140
 K  E  F  D  R  K  G  |  P  A  E  V  D  T  V  D  A  F  Q  G  R      p.2380

          .         .         .         .         .          | 25    g.90284
 CAGAAGGATTGTGTTATTGTTACGTGTGTCAGAGCAAATAGCATCCAAGGTTCAATTGG | A    c.7200
 Q  K  D  C  V  I  V  T  C  V  R  A  N  S  I  Q  G  S  I  G  |      p.2400

          .         .         .         .         .         .       g.90344
 TTCCTGGCAAGTTTGCAGAGATTGAATGTCACCATCACACGAGCCAAGTACAGCCTCTTC       c.7260
 F  L  A  S  L  Q  R  L  N  V  T  I  T  R  A  K  Y  S  L  F         p.2420

          .         .        | 26.         .         .         .    g.95033
 ATCCTCGGACATTTGAGGACCCTGATG | GAAAACCAGCATTGGAATCAGCTGATTCAGGAT    c.7320
 I  L  G  H  L  R  T  L  M   | E  N  Q  H  W  N  Q  L  I  Q  D      p.2440

          .         .         .         .         .         .       g.95093
 GCTCAGAAGCGTGGTGCCATTATTAAGACCTGTGACAAAAACTATAGACATGATGCAGTG       c.7380
 A  Q  K  R  G  A  I  I  K  T  C  D  K  N  Y  R  H  D  A  V         p.2460

          .         .         .         .         .         .       g.95153
 AAGATTCTGAAACTCAAGCCTGTGCTGCAGAGAAGTCTCACTCACCCTCCTACCATAGCC       c.7440
 K  I  L  K  L  K  P  V  L  Q  R  S  L  T  H  P  P  T  I  A         p.2480

          .         .         .         .         .         .       g.95213
 CCAGAGGGGTCCAGACCCCAGGGTGGTTTGCCCAGCAGCAAGCTAGACAGTGGATTTGCC       c.7500
 P  E  G  S  R  P  Q  G  G  L  P  S  S  K  L  D  S  G  F  A         p.2500

          .         .         .         .         .         .       g.95273
 AAGACATCTGTTGCTGCTTCTCTATACCACACACCCTCTGACTCCAAGGAAATTACTCTT       c.7560
 K  T  S  V  A  A  S  L  Y  H  T  P  S  D  S  K  E  I  T  L         p.2520

          .         .         .         .         .         .       g.95333
 ACTGTTACTTCAAAGGACCCTGAAAGACCTCCTGTTCATGACCAACTTCAGGACCCACGA       c.7620
 T  V  T  S  K  D  P  E  R  P  P  V  H  D  Q  L  Q  D  P  R         p.2540

          .         .         .         .         .         .       g.95393
 CTGCTGAAGAGGATGGGCATTGAGGTCAAAGGAGGAATATTCCTTTGGGATCCACAACCC       c.7680
 L  L  K  R  M  G  I  E  V  K  G  G  I  F  L  W  D  P  Q  P         p.2560

          .         .         .         .         .         .       g.95453
 TCGAGCCCCCAGCATCCTGGAGCAACACCTCCTACGGGCGAGCCGGGCTTCCCTGTCGTT       c.7740
 S  S  P  Q  H  P  G  A  T  P  P  T  G  E  P  G  F  P  V  V         p.2580

          .         .         .         .         .         .       g.95513
 CACCAGGACCTGAGCCATATACAGCAGCCCGCTGCTGTAGTGGCTGCTCTGAGCAGCCAC       c.7800
 H  Q  D  L  S  H  I  Q  Q  P  A  A  V  V  A  A  L  S  S  H         p.2600

          .         .         .         .         .         .       g.95573
 AAACCTCCCGTGCGGGGCGAACCTCCAGCTGCCAGTCCCGAGGCTTCCACGTGTCAGAGC       c.7860
 K  P  P  V  R  G  E  P  P  A  A  S  P  E  A  S  T  C  Q  S         p.2620

          .         .         .         .         .         .       g.95633
 AAATGTGATGACCCGGAAGAGGAGCTCTGTCACAGGAGAGAGGCCAGGGCTTTCAGTGAA       c.7920
 K  C  D  D  P  E  E  E  L  C  H  R  R  E  A  R  A  F  S  E         p.2640

          .         .         .         .         .         .       g.95693
 GGGGAGCAGGAGAAGTGTGGTTCCGAGACCCATCACACCAGGAGGAACTCTAGGTGGGAC       c.7980
 G  E  Q  E  K  C  G  S  E  T  H  H  T  R  R  N  S  R  W  D         p.2660

          .         .         .         .         .                 g.95747
 AAGAGGACACTGGAGCAGGAGGACAGCAGTTCCAAGAAAAGAAAGCTTTTATAG             c.8034
 K  R  T  L  E  Q  E  D  S  S  S  K  K  R  K  L  L  X               p.2677

          .         .         .         .         .         .       g.95807
 gaaagcccagtgacatgggccagcagccacagcatattgtaaactgaagatgaccagctc       c.*60

          .         .         .         .         .         .       g.95867
 gtgggaccatctagataagcttgttttttgtaaggagtttgtgtgctgttggaaaacatg       c.*120

          .         .         .         .         .         .       g.95927
 gaaaatgcatccttaacacctgagcctctggtcatcttcagtattttctgtcatttgcaa       c.*180

          .         .         .         .         .         .       g.95987
 aagctttcagagggcattgtgtatccgtaataatgtccttgaagtcagagactggaaatg       c.*240

          .         .         .         .         .         .       g.96047
 ttgatctcttagtcttctatagacaaggaggtcagactggagtgaatgttgtaaaagttg       c.*300

          .         .         .         .         .         .       g.96107
 aaatgtatatttgtatagcaaataacaaaatccttttaaaatttaatctagtagaccgct       c.*360

          .         .         .         .         .         .       g.96167
 tttctttccccctgtttaaaatgttaatcagttttcaacagaacaaactttatattacca       c.*420

          .         .         .         .         .         .       g.96227
 aaaaaaaaaagatgggaggagggcgggtcctttcaaccattgttagagcaagacagataa       c.*480

          .         .         .         .         .         .       g.96287
 ttatttaacagcctagcttggaataagctgagttagtgctggtgggtcaggtgtctctgg       c.*540

          .         .         .         .         .         .       g.96347
 ctctattaaaaaaagcaaaaacccccccaaaaacctggagtctcctaggggacactttgg       c.*600

          .         .         .         .         .         .       g.96407
 gcagcacggttatgttaggtaaagtcttgctgacatggtgcatttttagatagagtgcat       c.*660

          .         .         .         .         .         .       g.96467
 tggcccagggtattatatttctgtgatgagttcatttacctgtttcagtatgcacatagt       c.*720

          .         .         .         .         .         .       g.96527
 tccctagctaaaattcctaatcttcttgagagagaagaatatggagtgaaagaataattc       c.*780

          .         .         .         .         .         .       g.96587
 ttgagctatcattcaaatgctcccagcatattgtgagccttgtgtgactggtgaggtaca       c.*840

          .         .         .         .         .         .       g.96647
 gacatttggttgccaaatgctagattagcgctgggtcagctgtggaagaatcgcctcagc       c.*900

          .         .         .         .         .         .       g.96707
 ttacagattgtcagacagatctaactagttttccagaaagcctgggaagctgtgtgttca       c.*960

          .         .         .         .         .         .       g.96767
 acatttcccaagggattctgatcaccaggcagcttgggaaccactggggcaggccaaata       c.*1020

          .         .         .         .         .         .       g.96827
 gaatattttgggcgggaaagaagcacccgatttaaaatgaagcgtaaccagaggagttca       c.*1080

          .         .         .         .         .         .       g.96887
 gaactgggaagagagtggtagacttcctgtgatcttcagaaatcatctacctggtaaaaa       c.*1140

          .         .         .         .         .         .       g.96947
 tacatgctgtttagaatatctgataggtgtttccagctactattagaggtgatagtgctt       c.*1200

          .         .         .         .         .         .       g.97007
 ttgtgggggaaaaaattggtcatggtgaatggagatcgaggaagctcgggacaagggagg       c.*1260

          .         .         .         .         .         .       g.97067
 ggtgggctgcctgattttgtccagttttccaaatatccacgcagtgaactggagtatcct       c.*1320

          .         .         .         .         .         .       g.97127
 aaacatgagaatgtacagttgacagttgtaaaaactagggatctgtagtgaatgctgtgc       c.*1380

          .         .         .         .         .         .       g.97187
 agccccatatctcatttgggggtaggaaaatagctgaagattcatgtgcattatttgaca       c.*1440

          .         .         .         .         .         .       g.97247
 tttcctttgtcatctgctttttaagcaaaaaagggttttgtgttagaaattctacttgag       c.*1500

          .         .         .         .         .         .       g.97307
 cagattataaagagctttaaaaaacaactttcggttgccaaaagtttgagcatttgattt       c.*1560

          .         .         .         .         .         .       g.97367
 cattacctgtgtctccctcactggtgtccagacggtcaactgaatactcctgaaacccag       c.*1620

          .         .         .         .         .         .       g.97427
 ggagcaggtgacttcctggagtgctttgtccccagagtcagccactgcttcctctgtggg       c.*1680

          .         .         .         .         .         .       g.97487
 ggtggagagtttgtctttggccatgcagtgtgcgacagttcaggacgggtagggatgggt       c.*1740

          .         .         .         .         .         .       g.97547
 cccattctgtctgggtcaagggctctatcagcttcttccatgtgcctttgggaagaaatc       c.*1800

          .         .         .         .         .         .       g.97607
 tcgttactttaagtttgctttcctgttatcttgatgaagtgcccattttagcagacactt       c.*1860

          .         .         .         .         .         .       g.97667
 gtagtgctgaccacttagggaatgtacaaactcctaagcttctaaagggaggcatggcaa       c.*1920

          .         .         .         .         .         .       g.97727
 aaacgttggggtcaggatgtctctcacgctgctcatgttaatactattaacacatgattt       c.*1980

          .         .         .         .         .         .       g.97787
 gagaaataagttttctctaaaatgcatattttgccgccacacactgaacaatattatttc       c.*2040

          .         .         .         .         .         .       g.97847
 cagtgaagtttgatgcctgttcttacgttgtgttcacctgttggttcaccactcagcaga       c.*2100

          .         .         .         .         .         .       g.97907
 tctgattctgcaagaattaatggtagaactagatcatcctttctaacagacgagcctgtg       c.*2160

          .         .         .         .         .         .       g.97967
 tcctgtgacggcctttcacagcggaatgcagttgtacctcacattacttttgaaacttca       c.*2220

          .         .         .         .         .         .       g.98027
 ctcgttccagttggtacaagtatttgccaaagccatttcctatgttcaccgtggcccctc       c.*2280

          .         .         .         .         .         .       g.98087
 ctgatgtggctgtcagcgcagcgttgttgaacagggctattctttttacaaggtgtgaag       c.*2340

          .         .         .         .         .         .       g.98147
 tgtggctcttcgcttcgtctttgccatggcattaaaagaaagttccctgtcttctttcaa       c.*2400

          .         .         .         .         .         .       g.98207
 tattagttatttcaaatgaatatgtgctacttaaaagcttgttttgtttctttgtatata       c.*2460

          .         .         .         .         .         .       g.98267
 atttgccttggatttattgtgcacagtttgttgagttgtatgtttttgtgaattatcagg       c.*2520

          .         .         .         .         .         .       g.98327
 agtaaatttgacaagtacatgtgaataacctcctgtaaatgaattttataacaaaaatgt       c.*2580

          .         .         .         .         .         .       g.98387
 actgaactattttttaaagttgtgcagattagcaattttttgctatagctttgacttttc       c.*2640

          .         .         .         .         .         .       g.98447
 tatgctgtgaattaatagctgcgatttggcaaacagccctgttgtctttgttaaacccta       c.*2700

          .         .         .         .         .         .       g.98507
 aattttaagaggaaatggcagaattaaaagcagaaacaagaagatggacatggattagag       c.*2760

          .         .         .                                     g.98546
 gttatgtattatgaagtaaactacaaggtactaacatca                            c.*2799

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Senataxin protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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