trinucleotide repeat containing 6A (TNRC6A) - coding DNA reference sequence

(used for variant description)

(last modified December 19, 2019)


This file was created to facilitate the description of sequence variants on transcript NM_014494.2 in the TNRC6A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000016.9, covering TNRC6A transcript NM_014494.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5054
       gtgtagaaaatggcgctggtgcagcggctcgggcctctccccgcggcgctgcgg       c.-61

 .         .         .         .         .         .                g.5114
 agggcttgaggctcgcgagcctccttcgccgcgccccacttgctcgtgcactttacacac       c.-1

       | 02  .         .         .         .         .    | 03    . g.26005
 ATGAG | AGAATTGGAAGCTAAAGCTACCAAAGACGTAGAAAGAAATCTTAGCAG | GGATTTA c.60
 M  R  |  E  L  E  A  K  A  T  K  D  V  E  R  N  L  S  R  |  D  L   p.20

          .         .         .         .         .         .       g.26065
 GTGCAAGAAGAAGAACAGTTGATGGAAGAAAAGAAAAAGAAAAAAGACGACAAGAAAAAG       c.120
 V  Q  E  E  E  Q  L  M  E  E  K  K  K  K  K  D  D  K  K  K         p.40

          .         .  | 04      .         .    | 05    .         . g.52222
 AAGGAAGCTGCTCAAAAGAAG | GCCACTGAACAAAAAATCAAAG | TGCCAGAACAGATAAAG c.180
 K  E  A  A  Q  K  K   | A  T  E  Q  K  I  K  V |   P  E  Q  I  K   p.60

          .         .         .         .         .         .       g.52282
 CCCAGTGTAAGCCAGCCTCAGCCTGCCAACTCTAATAACGGCACTTCCACAGCAACCAGC       c.240
 P  S  V  S  Q  P  Q  P  A  N  S  N  N  G  T  S  T  A  T  S         p.80

          .         .         .         .         .         .       g.52342
 ACTAATAATAATGCCAAGCGAGCTACAGCCAACAATCAGCAGCCACAGCAGCAGCAGCAA       c.300
 T  N  N  N  A  K  R  A  T  A  N  N  Q  Q  P  Q  Q  Q  Q  Q         p.100

          .         .         .         .         .         .       g.52402
 CAGCAGCAGCCGCAGCAGCAGCAGCCACAGCAGCAGCCACAGCCGCAGCCGCAGCAGCAG       c.360
 Q  Q  Q  P  Q  Q  Q  Q  P  Q  Q  Q  P  Q  P  Q  P  Q  Q  Q         p.120

          .         .         .         .         .         .       g.52462
 CAGCCACAGCAGCAGCCACAGGCCTTGCCTCGGTATCCTCGTGAAGTACCTCCACGATTT       c.420
 Q  P  Q  Q  Q  P  Q  A  L  P  R  Y  P  R  E  V  P  P  R  F         p.140

          .         .         .         .         .         .       g.52522
 CGCCACCAGGAACACAAACAGCTTCTAAAGAGGGGTCAGCATTTTCCTGTTATAGCAGCA       c.480
 R  H  Q  E  H  K  Q  L  L  K  R  G  Q  H  F  P  V  I  A  A         p.160

          .         .         .         .         .         .       g.52582
 AACCTTGGATCTGCTGTTAAGGTGTTAAACAGCCAGTCAGAAAGCAGTGCTTTAACAAAT       c.540
 N  L  G  S  A  V  K  V  L  N  S  Q  S  E  S  S  A  L  T  N         p.180

          .         .         .         .          | 06        .    g.64515
 CAACAGCCACAAAATAACGGAGAGGTGCAGAACAGCAAAAACCAGTCAG | ATATAAACCAC    c.600
 Q  Q  P  Q  N  N  G  E  V  Q  N  S  K  N  Q  S  D |   I  N  H      p.200

          .         .         .         .         .         .       g.64575
 AGTACTTCAGGATCCCATTATGAAAATTCCCAGCGGGGACCTGTGTCTTCTACAAGTGAT       c.660
 S  T  S  G  S  H  Y  E  N  S  Q  R  G  P  V  S  S  T  S  D         p.220

          .         .         .         .         .         .       g.64635
 TCTAGCACAAACTGTAAGAATGCTGTTGTAAGTGACTTGTCGGAAAAAGAAGCATGGCCC       c.720
 S  S  T  N  C  K  N  A  V  V  S  D  L  S  E  K  E  A  W  P         p.240

          .         .         .         .         .         .       g.64695
 TCAGCCCCTGGCAGTGATCCGGAGTTGGCTTCAGAATGTATGGATGCTGATTCTGCCTCC       c.780
 S  A  P  G  S  D  P  E  L  A  S  E  C  M  D  A  D  S  A  S         p.260

          .         .         .         .         .         .       g.64755
 AGTTCTGAATCAGAGAGAAACATCACTATCATGGCTTCAGGGAACACAGGTGGTGAAAAA       c.840
 S  S  E  S  E  R  N  I  T  I  M  A  S  G  N  T  G  G  E  K         p.280

          .         .         .         .         .         .       g.64815
 GATGGCCTTCGGAATAGCACTGGACTTGGTTCCCAAAACAAGTTTGTAGTTGGTAGCAGC       c.900
 D  G  L  R  N  S  T  G  L  G  S  Q  N  K  F  V  V  G  S  S         p.300

          .         .         .         .         .         .       g.64875
 AGCAATAATGTGGGCCATGGAAGTAGTACTGGGCCATGGGGTTTTTCCCATGGAGCCATA       c.960
 S  N  N  V  G  H  G  S  S  T  G  P  W  G  F  S  H  G  A  I         p.320

          .         .         .         .         .         .       g.64935
 ATAAGCACATGTCAGGTCTCTGTGGATGCTCCTGAAAGCAAATCTGAAAGTAGCAACAAT       c.1020
 I  S  T  C  Q  V  S  V  D  A  P  E  S  K  S  E  S  S  N  N         p.340

          .         .         .         .         .         .       g.64995
 AGAATGAATGCTTGGGGCACTGTAAGTTCTTCATCAAATGGAGGGTTAAATCCAAGCACT       c.1080
 R  M  N  A  W  G  T  V  S  S  S  S  N  G  G  L  N  P  S  T         p.360

          .         .         .         .         .         .       g.65055
 TTGAATTCAGCTAGCAACCATGGTGCCTGGCCAGTATTAGAGAACAATGGACTTGCCCTA       c.1140
 L  N  S  A  S  N  H  G  A  W  P  V  L  E  N  N  G  L  A  L         p.380

          .         .         .         .         .         .       g.65115
 AAAGGGCCTGTAGGGAGTGGTAGTTCTGGCATTAATATTCAGTGCAGTACTATAGGCCAG       c.1200
 K  G  P  V  G  S  G  S  S  G  I  N  I  Q  C  S  T  I  G  Q         p.400

          .         .         .         .         .         .       g.65175
 ATGCCTAACAATCAGAGTATTAACTCTAAAGTGAGTGGTGGTTCTACCCATGGTACCTGG       c.1260
 M  P  N  N  Q  S  I  N  S  K  V  S  G  G  S  T  H  G  T  W         p.420

          .         .         .         .         .         .       g.65235
 GGAAGCCTTCAGGAAACTTGTGAATCTGAAGTAAGTGGTACACAGAAGGTTTCATTCAGT       c.1320
 G  S  L  Q  E  T  C  E  S  E  V  S  G  T  Q  K  V  S  F  S         p.440

          .         .         .         .         .         .       g.65295
 GGTCAACCTCAAAATATTACCACTGAAATGACTGGACCAAATAACACTACTAACTTTATG       c.1380
 G  Q  P  Q  N  I  T  T  E  M  T  G  P  N  N  T  T  N  F  M         p.460

          .         .         .         .         .         .       g.65355
 ACCTCTAGTTTACCAAACTCCGGTTCAGTGCAGAATAATGAGCTGCCTAGTAGTAACACA       c.1440
 T  S  S  L  P  N  S  G  S  V  Q  N  N  E  L  P  S  S  N  T         p.480

          .         .         .         .         .         .       g.65415
 GGGGCCTGGCGTGTGAGCACAATGAATCATCCTCAGATGCAGGCTCCATCAGGTATGAAT       c.1500
 G  A  W  R  V  S  T  M  N  H  P  Q  M  Q  A  P  S  G  M  N         p.500

          .         .         .         .         .         .       g.65475
 GGCACTTCCCTTTCTCACCTTAGCAATGGAGAGTCAAAAAGTGGAGGCTCTTATGGTACT       c.1560
 G  T  S  L  S  H  L  S  N  G  E  S  K  S  G  G  S  Y  G  T         p.520

          .         .         .         .         .         .       g.65535
 ACATGGGGTGCCTATGGTTCTAATTACTCTGGAGACAAATGTTCAGGCCCTAATGGCCAA       c.1620
 T  W  G  A  Y  G  S  N  Y  S  G  D  K  C  S  G  P  N  G  Q         p.540

          .         .         .         .         .         .       g.65595
 GCTAATGGTGACACTGTGAATGCAACTCTAATGCAGCCTGGCGTAAATGGTCCTATGGGC       c.1680
 A  N  G  D  T  V  N  A  T  L  M  Q  P  G  V  N  G  P  M  G         p.560

          .         .         .         .         .         .       g.65655
 ACTAACTTTCAAGTTAACACAAACAAAGGAGGTGGTGTGTGGGAATCTGGTGCAGCAAAC       c.1740
 T  N  F  Q  V  N  T  N  K  G  G  G  V  W  E  S  G  A  A  N         p.580

          .         .         .         .         .         .       g.65715
 TCCCAGAGTACATCATGGGGAAGTGGAAATGGCGCAAATTCTGGAGGAAGTCGAAGAGGA       c.1800
 S  Q  S  T  S  W  G  S  G  N  G  A  N  S  G  G  S  R  R  G         p.600

          .         .         .         .         .         .       g.65775
 TGGGGAACCCCTGCACAAAACACTGGCACTAATTTACCCAGCGTTGAGTGGAACAAACTG       c.1860
 W  G  T  P  A  Q  N  T  G  T  N  L  P  S  V  E  W  N  K  L         p.620

          .         .         .         .         .         .       g.65835
 CCTAGCAATCAGCATTCCAATGATAGTGCAAATGGCAATGGTAAGACGTTTACAAATGGA       c.1920
 P  S  N  Q  H  S  N  D  S  A  N  G  N  G  K  T  F  T  N  G         p.640

          .         .         .         .         .         .       g.65895
 TGGAAATCTACTGAGGAAGAGGATCAGGGTTCTGCCACATCTCAGACAAATGAGCAAAGC       c.1980
 W  K  S  T  E  E  E  D  Q  G  S  A  T  S  Q  T  N  E  Q  S         p.660

          .         .         .         .         .         .       g.65955
 AGTGTGTGGGCCAAAACAGGAGGTACAGTGGAGAGCGATGGTAGTACAGAAAGCACTGGA       c.2040
 S  V  W  A  K  T  G  G  T  V  E  S  D  G  S  T  E  S  T  G         p.680

          .         .         .         .         .         .       g.66015
 CGCCTTGAGGAAAAAGGAACTGGGGAAAGTCAGAGTAGAGACAGAAGAAAAATTGATCAG       c.2100
 R  L  E  E  K  G  T  G  E  S  Q  S  R  D  R  R  K  I  D  Q         p.700

          .         .         .         .         .         .       g.66075
 CACACATTACTCCAAAGCATTGTAAACAGAACTGACTTAGATCCACGTGTCCTGTCCAAC       c.2160
 H  T  L  L  Q  S  I  V  N  R  T  D  L  D  P  R  V  L  S  N         p.720

          .         .         .         .         .         .       g.66135
 TCTGGTTGGGGACAGACTCCTATTAAGCAGAATACTGCCTGGGATACAGAAACATCACCT       c.2220
 S  G  W  G  Q  T  P  I  K  Q  N  T  A  W  D  T  E  T  S  P         p.740

          .         .         .         .         .         .       g.66195
 AGAGGGGAACGAAAGACTGACAATGGGACAGAGGCCTGGGGAAGCTCTGCAACACAGACT       c.2280
 R  G  E  R  K  T  D  N  G  T  E  A  W  G  S  S  A  T  Q  T         p.760

          .         .         .         .         .         .       g.66255
 TTTAACTCAGGGGCATGTATAGATAAGACTAGCCCTAATGGTAATGATACCTCATCTGTA       c.2340
 F  N  S  G  A  C  I  D  K  T  S  P  N  G  N  D  T  S  S  V         p.780

          .         .         .         .         .         .       g.66315
 TCAGGGTGGGGCGATCCCAAACCTGCTCTGAGGTGGGGAGATTCCAAAGGCTCAAACTGC       c.2400
 S  G  W  G  D  P  K  P  A  L  R  W  G  D  S  K  G  S  N  C         p.800

          .         .         .         .         .         .       g.66375
 CAGGGGGGGTGGGAAGATGATTCTGCTGCTACAGGAATGGTCAAGAGCAATCAGTGGGGG       c.2460
 Q  G  G  W  E  D  D  S  A  A  T  G  M  V  K  S  N  Q  W  G         p.820

          .         .         .         .         .         .       g.66435
 AATTGCAAAGAGGAGAAGGCTGCATGGAATGACTCGCAAAAGAATAAACAGGGATGGGGT       c.2520
 N  C  K  E  E  K  A  A  W  N  D  S  Q  K  N  K  Q  G  W  G         p.840

          .         .         .         .         .         .       g.66495
 GATGGACAAAAATCAAGCCAAGGGTGGTCTGTTTCTGCCAGTGATAACTGGGGAGAAACT       c.2580
 D  G  Q  K  S  S  Q  G  W  S  V  S  A  S  D  N  W  G  E  T         p.860

          .         .         .         .         .         .       g.66555
 TCAAGGAATAACCATTGGGGTGAGGCCAATAAGAAATCCAGCTCAGGAGGTAGTGACAGT       c.2640
 S  R  N  N  H  W  G  E  A  N  K  K  S  S  S  G  G  S  D  S         p.880

          .         .         .         .         .         .       g.66615
 GACAGGTCCGTTTCCGGTTGGAACGAACTTGGTAAAACTAGTTCTTTCACTTGGGGAAAC       c.2700
 D  R  S  V  S  G  W  N  E  L  G  K  T  S  S  F  T  W  G  N         p.900

          .         .         .         .         .         .       g.66675
 AACATAAATCCAAATAATTCATCAGGATGGGATGAATCTTCTAAACCTACTCCTTCCCAG       c.2760
 N  I  N  P  N  N  S  S  G  W  D  E  S  S  K  P  T  P  S  Q         p.920

          .         .         .         .         .         .       g.66735
 GGATGGGGAGACCCTCCAAAGTCTAATCAGTCTCTAGGTTGGGGAGATTCGTCAAAGCCA       c.2820
 G  W  G  D  P  P  K  S  N  Q  S  L  G  W  G  D  S  S  K  P         p.940

          .         .         .         .         .         .       g.66795
 GTCAGCTCTCCAGACTGGAACAAGCAACAAGACATTGTTGGATCTTGGGGAATCCCACCA       c.2880
 V  S  S  P  D  W  N  K  Q  Q  D  I  V  G  S  W  G  I  P  P         p.960

          .         .         .         .         .         .       g.66855
 GCTACAGGCAAACCTCCTGGTACAGGCTGGCTGGGGGGACCTATACCAGCCCCAGCAAAA       c.2940
 A  T  G  K  P  P  G  T  G  W  L  G  G  P  I  P  A  P  A  K         p.980

          .         .         .         .         .         .       g.66915
 GAAGAAGAACCCACAGGCTGGGAGGAACCATCCCCAGAATCTATACGTCGCAAAATGGAG       c.3000
 E  E  E  P  T  G  W  E  E  P  S  P  E  S  I  R  R  K  M  E         p.1000

          .         .         .         .         .         .       g.66975
 ATTGATGATGGAACTTCAGCTTGGGGAGATCCAAGCAAATACAACTACAAAAATGTGAAC       c.3060
 I  D  D  G  T  S  A  W  G  D  P  S  K  Y  N  Y  K  N  V  N         p.1020

          .         .         .         .         .         .       g.67035
 ATGTGGAACAAAAACGTCCCAAATGGCAACAGCCGTTCAGACCAGCAAGCACAGGTACAT       c.3120
 M  W  N  K  N  V  P  N  G  N  S  R  S  D  Q  Q  A  Q  V  H         p.1040

          .         .         .         .         .      | 07  .    g.68750
 CAGCTGCTAACGCCTGCAAGTGCCATCTCAAACAAAGAGGCAAGCAGTGGCTCTG | GCTGG    c.3180
 Q  L  L  T  P  A  S  A  I  S  N  K  E  A  S  S  G  S  G |   W      p.1060

          .         .         .         .         .         .       g.68810
 GGTGAGCCCTGGGGGGAGCCTTCTACTCCAGCCACAACTGTGGATAATGGTACTTCAGCA       c.3240
 G  E  P  W  G  E  P  S  T  P  A  T  T  V  D  N  G  T  S  A         p.1080

          .         .         .         .         .         .       g.68870
 TGGGGTAAGCCCATAGACAGTGGTCCCAGCTGGGGGGAACCCATTGCTGCGGCATCCAGC       c.3300
 W  G  K  P  I  D  S  G  P  S  W  G  E  P  I  A  A  A  S  S         p.1100

          .         .         .         .         .   | 08     .    g.69824
 ACATCCACGTGGGGCTCCAGCTCTGTTGGTCCACAAGCATTAAGCAAATCTG | GGCCAAAA    c.3360
 T  S  T  W  G  S  S  S  V  G  P  Q  A  L  S  K  S  G |   P  K      p.1120

          .         .         .         .         .         .       g.69884
 TCTATGCAAGATGGCTGGTGTGGTGATGATATGCCATTGCCTGGAAATCGCCCCACTGGC       c.3420
 S  M  Q  D  G  W  C  G  D  D  M  P  L  P  G  N  R  P  T  G         p.1140

          .         .         .         .         .         .       g.69944
 TGGGAAGAGGAAGAGGATGTGGAGATTGGAATGTGGAATAGTAATTCATCTCAAGAGCTT       c.3480
 W  E  E  E  E  D  V  E  I  G  M  W  N  S  N  S  S  Q  E  L         p.1160

          .         .         .         .         | 09         .    g.71191
 AACTCATCTTTAAATTGGCCACCATATACAAAGAAAATGTCATCGAAG | GGTCTGAGTGGC    c.3540
 N  S  S  L  N  W  P  P  Y  T  K  K  M  S  S  K   | G  L  S  G      p.1180

          .         .  | 10      .         .         .         .    g.72801
 AAAAAAAGGAGAAGGGAAAGG | GGAATGATGAAAGGTGGAAACAAACAAGAAGAAGCGTGG    c.3600
 K  K  R  R  R  E  R   | G  M  M  K  G  G  N  K  Q  E  E  A  W      p.1200

          .         .         .         .   | 11     .         .    g.73205
 ATAAATCCATTTGTTAAACAGTTTTCAAACATCAGTTTTTCG | AGAGACTCACCAGAGGAA    c.3660
 I  N  P  F  V  K  Q  F  S  N  I  S  F  S   | R  D  S  P  E  E      p.1220

          .         .         .     | 12   .         .         .    g.79475
 AATGTACAAAGCAATAAGATGGACCTTTCTGGAG | GAATGTTACAAGACAAACGAATGGAG    c.3720
 N  V  Q  S  N  K  M  D  L  S  G  G |   M  L  Q  D  K  R  M  E      p.1240

          .         .         .         .         .         .       g.79535
 ATAGATAAACATAGCCTAAATATTGGTGATTACAATCGAACGGTCGGGAAAGGCCCTGGT       c.3780
 I  D  K  H  S  L  N  I  G  D  Y  N  R  T  V  G  K  G  P  G         p.1260

          .         .         .         .         .        | 13.    g.79980
 TCTCGGCCTCAGATTTCCAAAGAGTCTTCCATGGAGCGCAATCCTTATTTTGATAAG | GAT    c.3840
 S  R  P  Q  I  S  K  E  S  S  M  E  R  N  P  Y  F  D  K   | D      p.1280

          .         .         .         .         .         .       g.80040
 GGCATTGTAGCAGATGAATCCCAAAACATGCAGTTTATGTCCAGTCAAAGCATGAAGCTT       c.3900
 G  I  V  A  D  E  S  Q  N  M  Q  F  M  S  S  Q  S  M  K  L         p.1300

          .         .         .         .         .         .       g.80100
 CCCCCTTCAAATAGTGCACTACCTAACCAGGCCCTTGGCTCCATAGCAGGGCTGGGTATG       c.3960
 P  P  S  N  S  A  L  P  N  Q  A  L  G  S  I  A  G  L  G  M         p.1320

          .         .     | 14   .         .         .         .    g.80322
 CAAAACTTGAATTCTGTTAGACAG | AATGGCAATCCCAGTATGTTTGGTGTTGGAAACACA    c.4020
 Q  N  L  N  S  V  R  Q   | N  G  N  P  S  M  F  G  V  G  N  T      p.1340

          .         .         .         .         .         .       g.80382
 GCAGCACAACCCCGGGGCATGCAGCAGCCTCCAGCACAACCTCTTAGTTCATCTCAGCCT       c.4080
 A  A  Q  P  R  G  M  Q  Q  P  P  A  Q  P  L  S  S  S  Q  P         p.1360

          .         .         .         .   | 15     .         .    g.80895
 AATCTCCGTGCTCAAGTGCCTCCTCCATTACTCTCCCCTCAG | GTTCCAGTTTCATTGCTG    c.4140
 N  L  R  A  Q  V  P  P  P  L  L  S  P  Q   | V  P  V  S  L  L      p.1380

          .         .         .         .         .         .       g.80955
 AAGTATGCACCAAACAACGGTGGCCTGAATCCACTCTTTGGCCCTCAACAGGTAGCCATG       c.4200
 K  Y  A  P  N  N  G  G  L  N  P  L  F  G  P  Q  Q  V  A  M         p.1400

          .         .         .         .         .  | 16      .    g.81487
 CTGAACCAGCTATCCCAGCTAAACCAGCTTTCTCAGATCTCCCAGTTACAG | CGATTGTTA    c.4260
 L  N  Q  L  S  Q  L  N  Q  L  S  Q  I  S  Q  L  Q   | R  L  L      p.1420

          .         .         .         .         .         .       g.81547
 GCGCAGCAGCAAAGGGCGCAGAGTCAGAGAAGCGTGCCTTCTGGGAACCGGCCGCAGCAA       c.4320
 A  Q  Q  Q  R  A  Q  S  Q  R  S  V  P  S  G  N  R  P  Q  Q         p.1440

           | 17        .         .         .         .         .    g.81897
 GACCAGCAG | GGTCGACCTCTTAGTGTGCAGCAGCAAATGATGCAACAATCTCGTCAACTT    c.4380
 D  Q  Q   | G  R  P  L  S  V  Q  Q  Q  M  M  Q  Q  S  R  Q  L      p.1460

          .         .         .         .         .         .       g.81957
 GATCCAAACCTGTTGGTGAAGCAGCAGACTCCACCATCTCAGCAGCAGCCACTCCATCAG       c.4440
 D  P  N  L  L  V  K  Q  Q  T  P  P  S  Q  Q  Q  P  L  H  Q         p.1480

          .         .         .         .         .         .       g.82017
 CCAGCCATGAAGTCTTTCCTTGACAATGTCATGCCCCACACTACACCTGAGCTGCAAAAA       c.4500
 P  A  M  K  S  F  L  D  N  V  M  P  H  T  T  P  E  L  Q  K         p.1500

          .         .         .         . | 18       .         .    g.84642
 GGGCCATCACCAATAAATGCTTTCAGCAACTTCCCTATAG | GCTTGAACTCAAACTTGAAT    c.4560
 G  P  S  P  I  N  A  F  S  N  F  P  I  G |   L  N  S  N  L  N      p.1520

          .         .         .         .         .         .       g.84702
 GTAAATATGGATATGAACAGTATTAAAGAGCCACAGTCAAGACTAAGGAAGTGGACGACA       c.4620
 V  N  M  D  M  N  S  I  K  E  P  Q  S  R  L  R  K  W  T  T         p.1540

          .         .         .         .         .   | 19     .    g.90427
 GTGGACAGCATTTCTGTGAACACATCTTTGGATCAAAACTCCAGCAAACATG | GTGCTATT    c.4680
 V  D  S  I  S  V  N  T  S  L  D  Q  N  S  S  K  H  G |   A  I      p.1560

          .         .         .         .         .         .       g.90487
 TCAAGTGGTTTCAGGCTGGAAGAGTCTCCATTTGTTCCCTATGACTTTATGAACAGCAGT       c.4740
 S  S  G  F  R  L  E  E  S  P  F  V  P  Y  D  F  M  N  S  S         p.1580

          .         .         .         .         .         .       g.90547
 ACTTCACCAGCCAGTCCTCCAGGTTCAATAGGAGATGGCTGGCCACGTGCCAAATCGCCT       c.4800
 T  S  P  A  S  P  P  G  S  I  G  D  G  W  P  R  A  K  S  P         p.1600

          .         .         .  | 20      .         .         .    g.92117
 AACGGCTCTAGCAGTGTTAATTGGCCACCAG | AATTTCGTCCTGGTGAGCCATGGAAAGGT    c.4860
 N  G  S  S  S  V  N  W  P  P  E |   F  R  P  G  E  P  W  K  G      p.1620

          .         .         .         .         .         .       g.92177
 TATCCAAACATTGACCCTGAAACTGACCCTTACGTCACTCCTGGCAGTGTCATAAACAAT       c.4920
 Y  P  N  I  D  P  E  T  D  P  Y  V  T  P  G  S  V  I  N  N         p.1640

          .         .         .         .         .   | 21     .    g.93873
 CTTTCAATTAATACTGTGCGGGAAGTTGACCACCTCAGGGACAGGAACAGTG | GGTCATCC    c.4980
 L  S  I  N  T  V  R  E  V  D  H  L  R  D  R  N  S  G |   S  S      p.1660

          .         .         .         .         .         .       g.93933
 TCATCCTTGAACACCACGCTGCCTTCAACTAGTGCCTGGTCATCCATTCGTGCCTCCAAC       c.5040
 S  S  L  N  T  T  L  P  S  T  S  A  W  S  S  I  R  A  S  N         p.1680

          .         .         .         . | 22       .         .    g.95431
 TACAACGTTCCCCTCAGCAGTACAGCACAAAGCACTTCAG | CCAGAAATAGTGATTCCAAA    c.5100
 Y  N  V  P  L  S  S  T  A  Q  S  T  S  A |   R  N  S  D  S  K      p.1700

          .         .         .         .         .         .       g.95491
 TTGACATGGTCTCCTGGTTCAGTTACAAACACCTCTCTGGCTCATGAGCTGTGGAAGGTC       c.5160
 L  T  W  S  P  G  S  V  T  N  T  S  L  A  H  E  L  W  K  V         p.1720

          .         .         .         .         .         .       g.95551
 CCTTTGCCACCTAAAAACATCACTGCTCCGTCCCGCCCACCTCCGGGACTGACTGGTCAG       c.5220
 P  L  P  P  K  N  I  T  A  P  S  R  P  P  P  G  L  T  G  Q         p.1740

          .         .         .         .         .         .       g.95611
 AAGCCACCCTTGTCTACGTGGGATAATTCTCCCCTTCGTATAGGTGGAGGATGGGGAAAT       c.5280
 K  P  P  L  S  T  W  D  N  S  P  L  R  I  G  G  G  W  G  N         p.1760

          .         .   | 23     .         .         .         .    g.97387
 TCTGACGCCAGATATACCCCAG | GTTCCAGCTGGGGTGAGAGCAGCTCAGGGAGAATAACA    c.5340
 S  D  A  R  Y  T  P  G |   S  S  W  G  E  S  S  S  G  R  I  T      p.1780

          .         .         .    | 24    .         .         .    g.98173
 AATTGGCTTGTTCTAAAAAACCTTACACCTCAG | ATCGATGGCTCAACTCTGCGCACTCTG    c.5400
 N  W  L  V  L  K  N  L  T  P  Q   | I  D  G  S  T  L  R  T  L      p.1800

          .         .         .         .         .         .       g.98233
 TGCATGCAGCACGGCCCGCTGATCACATTCCACCTGAACCTCCCTCACGGAAATGCTCTG       c.5460
 C  M  Q  H  G  P  L  I  T  F  H  L  N  L  P  H  G  N  A  L         p.1820

          .         .         .         .         .    | 25    .    g.98711
 GTCCGCTACAGTTCAAAAGAAGAGGTAGTGAAGGCACAAAAGTCTCTGCACAT | GTGTGTA    c.5520
 V  R  Y  S  S  K  E  E  V  V  K  A  Q  K  S  L  H  M  |  C  V      p.1840

          .         .         .         .         .         .       g.98771
 CTGGGGAACACTACTATTCTTGCTGAGTTTGCCAGTGAAGAGGAGATCAGTCGTTTCTTT       c.5580
 L  G  N  T  T  I  L  A  E  F  A  S  E  E  E  I  S  R  F  F         p.1860

          .         .         .         .         .         .       g.98831
 GCACAAAGCCAGTCTCTGACCCCTTCTCCCGGCTGGCAGTCTCTCGGGTCCAGCCAGAGC       c.5640
 A  Q  S  Q  S  L  T  P  S  P  G  W  Q  S  L  G  S  S  Q  S         p.1880

          .         .         .         .         .         .       g.98891
 CGGCTGGGCTCCCTCGACTGTTCCCACTCATTCTCCAGCCGGACCGATCTCAATCACTGG       c.5700
 R  L  G  S  L  D  C  S  H  S  F  S  S  R  T  D  L  N  H  W         p.1900

          .         .         .         .         .         .       g.98951
 AATGGTGCTGGGCTGTCGGGAACTAACTGTGGAGACCTTCACGGCACTTCACTCTGGGGG       c.5760
 N  G  A  G  L  S  G  T  N  C  G  D  L  H  G  T  S  L  W  G         p.1920

          .         .         .         .         .         .       g.99011
 ACCCCGCATTATTCCACAAGCCTGTGGGGTCCCCCAAGCAGCAGCGACCCCCGAGGAATT       c.5820
 T  P  H  Y  S  T  S  L  W  G  P  P  S  S  S  D  P  R  G  I         p.1940

          .         .         .         .         .         .       g.99071
 AGCAGCCCATCTCCCATTAACGCTTTTCTTTCTGTTGACCACCTGGGTGGGGGTGGAGAG       c.5880
 S  S  P  S  P  I  N  A  F  L  S  V  D  H  L  G  G  G  G  E         p.1960

                                                                    g.99080
 TCCATGTAA                                                          c.5889
 S  M  X                                                            p.1962

          .         .         .         .         .         .       g.99140
 cagtgtagatgcagactcaccgaccgggacctcagacgcgagggaaaggagcactaagtg       c.*60

          .         .         .         .         .         .       g.99200
 gggctcgccgcctgcagccaggggccgcctgtgggaacagctattctctgcacattttcc       c.*120

          .         .         .         .         .         .       g.99260
 actttgttttccccaaaacatatcagtttgaatacttgaatcatgcaggccaatattata       c.*180

          .         .         .         .         .         .       g.99320
 atgtgaaaaggtatctactctatttacactcccaaatagcgccatacatgctaaaccgta       c.*240

          .         .         .         .         .         .       g.99380
 gagaatgagctcgcttgtgtctattcatcatgtttagcctttggattctttttttttttt       c.*300

          .         .         .         .         .         .       g.99440
 tccttctattcctccccaacccccccccccgcccctttttttctctcttgcaaaaccatt       c.*360

          .         .         .         .         .         .       g.99500
 ttttgggctgataacgtatgagcttttccctttgcactgaatgatgttctctccgtctca       c.*420

          .         .         .         .         .         .       g.99560
 tcggcagtatggggggcagctgtcccagtgtcaatgtttactcaagggtgttcttaggag       c.*480

          .         .         .         .         .         .       g.99620
 gcgtgcgctctctactatgccttgatgttgcctaccttattgtggtatcgtggagtttaa       c.*540

          .         .         .         .         .         .       g.99680
 aagatcaagttaggatgctgacttaggattattaatgaaagtgttgcaccagttttttca       c.*600

          .         .         .         .         .         .       g.99740
 tgttgtaaaactaaagaatttcgctctgcagtttgaaaaactgtggccacagctgtgact       c.*660

          .         .         .         .         .         .       g.99800
 tgcagcccacctgccacccaggacgggccctgcactttgaataggctttccattttgttt       c.*720

          .         .         .         .         .         .       g.99860
 tggaggttctcactttgaaccttcttgtttacagatttttttgtttgttttttgagaaaa       c.*780

          .         .         .         .         .         .       g.99920
 aaaaatgtttactcttccatcatttaaaaaaaatgtaaaagacaaaaaaaaaatggagga       c.*840

          .         .         .         .         .         .       g.99980
 tgatttaaaagatgctttctatctctgggaaaaaggagcagcatttggccatgttctttt       c.*900

          .         .         .         .         .         .       g.100040
 gtttttctattcctgtcccaaatcaaagagcatggttctcaggaaaaccagttccccagt       c.*960

          .         .         .         .         .         .       g.100100
 ttaaaaaaaaaaaaaaaaattccttgtagtttcttagaggaaaaaaagaaaaaccccaac       c.*1020

          .         .         .         .         .         .       g.100160
 ttttagcactgatactacatattgctctgttaaagaattttctctgccaaaaaaaaagaa       c.*1080

          .         .         .         .         .         .       g.100220
 aaaacaaaaaaacgcttaaagctggagtttgacattctgctttcagatgctgtcttttta       c.*1140

          .         .         .         .         .         .       g.100280
 ttagtgagtgatgatggtttgctaataatcaataggtaataattttttgtaatcccatca       c.*1200

          .         .         .         .         .         .       g.100340
 agtggctccatatgtttctgctctctcgtgactgtgttaatgtttaactgttgtacctta       c.*1260

          .         .         .         .         .         .       g.100400
 aagccgaaatcagtaactatgcatactgtaaccaaggtattgggcttacagagttgtttg       c.*1320

          .         .         .         .         .         .       g.100460
 ttgtataaagaaaattttaaatgttgttgcaaactaacgagttacaccattttaaacttt       c.*1380

          .         .         .         .         .         .       g.100520
 ctttcctcccccctttttttgcccacaaatggtattataatgcttgcttagtcaaagaag       c.*1440

          .         .         .         .         .         .       g.100580
 agagactaaacaagggtaaaaattttaacagtacagaatttgccatcatatcattgcctt       c.*1500

          .         .         .         .         .         .       g.100640
 gattctaactgtttgtgtcctaagatgcaaaagaagtcagtggcttttaactgtttacaa       c.*1560

          .         .         .         .         .         .       g.100700
 atagaatgtgattgtaaaatgtacagtttggttgtgtttgaattatgaaatttcttcaga       c.*1620

          .         .         .         .         .         .       g.100760
 tataataaaccatgactttttggctgctcaacattaattgtctcctttttgtgaatttat       c.*1680

          .         .         .         .         .         .       g.100820
 ttgtaggctcttttttataatgaaagtttcaaagttgctatgtatgagggttctcataga       c.*1740

          .         .         .         .         .         .       g.100880
 gcaaccgattaaaaatctaagcaaatatttgaacattttatctgaactcatcacaatttc       c.*1800

          .         .         .         .         .         .       g.100940
 accctgaaataatgtgagaacaatgggaaactgtagcttgctccttcccaccctctctga       c.*1860

          .         .         .         .         .         .       g.101000
 gcatctttgggatcttgttgctcaaaactcttctgtgacttcatcttccccaccatttgt       c.*1920

          .         .         .         .         .         .       g.101060
 gcccatctcaagcctcagcaagaaaccatgtggaacatgaagcttaatgacttgacagtg       c.*1980

          .         .         .         .         .         .       g.101120
 tactagtgttaaactctcatacctctgttacaaagcgagaaacgccacacccggactggc       c.*2040

          .         .         .         .         .         .       g.101180
 cttttcttcccccttcacggccctcgcttctccctgcaggagctcgggggcgaaacctgt       c.*2100

          .         .         .         .         .         .       g.101240
 gtatggatttcagtgtatgacttcagatcatgctccaacttgccaggtgtgagctaatgt       c.*2160

          .         .         .         .         .         .       g.101300
 tgtcggacaccttactataagcaaatgttattcagtgcgttcaatgtatattgacttcca       c.*2220

          .         .         .         .         .         .       g.101360
 tactggtttttccaaaaaccaaaggtagctttgaaaaaccatgtctggaaatgtttggag       c.*2280

          .         .         .         .         .         .       g.101420
 cgttaagctgattgaccttctgaccttggggctttgagtagtatataattcataactgcg       c.*2340

          .         .         .         .         .         .       g.101480
 ttaattgtattgttaaagtgtttgggagttttttgcgcttgttatgtggaaataaagtgt       c.*2400

          .         .                                               g.101500
 ttgatttaaaattttttaaa                                               c.*2420

 (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 Trinucleotide repeat containing 6A 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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