ankyrin repeat domain 17 (ANKRD17) - coding DNA reference sequence

(used for variant description)

(last modified September 18, 2024)


This file was created to facilitate the description of sequence variants on transcript NM_032217.3 in the ANKRD17 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000004.11, covering ANKRD17 transcript NM_032217.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5057
    gaggcggtggcggcggaggcggcaccgattgctgtgtcggccccagtgcggccgaag       c.-61

 .         .         .         .         .         .                g.5117
 tcgcggtagagcgtagccccacgcccctcccccgtccgcgccctccctctttccctgggg       c.-1

          .         .         .         .         .         .       g.5177
 ATGGAGAAGGCGACGGTTCCGGTGGCGGCGGCGACGGCTGCAGAAGGAGAAGGGAGCCCC       c.60
 M  E  K  A  T  V  P  V  A  A  A  T  A  A  E  G  E  G  S  P         p.20

          .         .         .         .         .         .       g.5237
 CCGGCGGTGGCGGCTGTGGCGGGCCCCCCCGCGGCGGCGGAGGTCGGCGGCGGCGTTGGC       c.120
 P  A  V  A  A  V  A  G  P  P  A  A  A  E  V  G  G  G  V  G         p.40

          .         .         .         .         .         .       g.5297
 GGCAGCAGCAGAGCTCGCTCGGCCTCGTCTCCTCGTGGGATGGTGCGAGTCTGCGACCTG       c.180
 G  S  S  R  A  R  S  A  S  S  P  R  G  M  V  R  V  C  D  L         p.60

          .         .         .         .         .         .       g.5357
 CTCCTGAAGAAGAAGCCGCCGCAGCAGCAGCACCACAAGGCCAAGCGTAACCGGACTTGC       c.240
 L  L  K  K  K  P  P  Q  Q  Q  H  H  K  A  K  R  N  R  T  C         p.80

          .         .         .         .         .         .       g.5417
 CGACCCCCCAGCAGCAGCGAAAGCAGCAGCGACAGCGACAACAGCGGCGGCGGTGGAGGC       c.300
 R  P  P  S  S  S  E  S  S  S  D  S  D  N  S  G  G  G  G  G         p.100

          .         .         .         .         .         .       g.5477
 GGCGGTGGAGGCGGAGGTGGCGGCGGCGGCACCAGCAGTAACAACAGCGAGGAAGAAGAG       c.360
 G  G  G  G  G  G  G  G  G  G  T  S  S  N  N  S  E  E  E  E         p.120

          .         .         .    | 02    .         .         .    g.86279
 GACGACGACGACGAGGAAGAGGAGGTTTCTGAG | GTGGAGTCTTTCATTTTGGATCAGGAT    c.420
 D  D  D  D  E  E  E  E  V  S  E   | V  E  S  F  I  L  D  Q  D      p.140

          .         .         .         .         .         .       g.86339
 GATTTGGAAAATCCAATGCTGGAAACAGCTTCCAAGTTGCTCTTATCAGGTACTGCTGAT       c.480
 D  L  E  N  P  M  L  E  T  A  S  K  L  L  L  S  G  T  A  D         p.160

          .         .         .         .         .         .       g.86399
 GGTGCAGACCTCAGGACAGTAGATCCAGAAACACAGGCTAGACTGGAAGCTTTACTAGAA       c.540
 G  A  D  L  R  T  V  D  P  E  T  Q  A  R  L  E  A  L  L  E         p.180

         | 03.         .         .         .         .         .    g.102490
 GCTGCAG | GAATAGGAAAATTGTCCACGGCTGATGGTAAAGCCTTTGCAGATCCTGAAGTA    c.600
 A  A  G |   I  G  K  L  S  T  A  D  G  K  A  F  A  D  P  E  V      p.200

          .         .         .         .         .         .       g.102550
 CTTCGGAGGTTGACATCGTCTGTTAGTTGTGCGTTGGATGAAGCTGCTGCTGCACTTACC       c.660
 L  R  R  L  T  S  S  V  S  C  A  L  D  E  A  A  A  A  L  T         p.220

          .         .         .         .     | 04   .         .    g.107635
 CGTATGAGAGCTGAAAGCACAGCAAATGCAGGGCAGTCGGACAA | CCGCAGTTTGGCAGAA    c.720
 R  M  R  A  E  S  T  A  N  A  G  Q  S  D  N  |  R  S  L  A  E      p.240

          .         .         .         .         .         .       g.107695
 GCCTGTTCAGAAGGAGATGTAAATGCTGTGCGAAAGTTACTCATTGAAGGGCGAAGTGTA       c.780
 A  C  S  E  G  D  V  N  A  V  R  K  L  L  I  E  G  R  S  V         p.260

          .         .         .         .         .         .       g.107755
 AATGAACACACAGAGGAAGGGGAGAGCCTCCTTTGTTTAGCTTGTTCTGCTGGATACTAT       c.840
 N  E  H  T  E  E  G  E  S  L  L  C  L  A  C  S  A  G  Y  Y         p.280

          .   | 05     .         .         .         .         .    g.108055
 GAGCTTGCACAG | GTTTTGTTGGCAATGCATGCAAATGTGGAAGATAGGGGAATCAAAGGT    c.900
 E  L  A  Q   | V  L  L  A  M  H  A  N  V  E  D  R  G  I  K  G      p.300

          .         .         .         .         .         .       g.108115
 GACATTACACCTTTAATGGCTGCTGCTAATGGAGGACATGTCAAAATTGTGAAGTTGCTG       c.960
 D  I  T  P  L  M  A  A  A  N  G  G  H  V  K  I  V  K  L  L         p.320

          .         .         .         . | 06       .         .    g.109692
 CTAGCTCATAAAGCAGATGTTAATGCACAGTCTTCAACAG | GCAATACAGCACTTACATAT    c.1020
 L  A  H  K  A  D  V  N  A  Q  S  S  T  G |   N  T  A  L  T  Y      p.340

          .         .         .         .         .         .       g.109752
 GCTTGTGCTGGAGGCTATGTAGATGTTGTAAAGGTGCTCTTGGAATCCGGTGCTAGTATT       c.1080
 A  C  A  G  G  Y  V  D  V  V  K  V  L  L  E  S  G  A  S  I         p.360

          .         .         .         .         .         .       g.109812
 GAGGACCATAATGAAAATGGTCATACCCCTCTTATGGAAGCTGGAAGTGCTGGACATGTG       c.1140
 E  D  H  N  E  N  G  H  T  P  L  M  E  A  G  S  A  G  H  V         p.380

          .         .         .         .         .         .       g.109872
 GAAGTAGCCAGATTGCTGCTAGAAAATGGGGCTGGCATTAATACGCATTCTAATGAATTT       c.1200
 E  V  A  R  L  L  L  E  N  G  A  G  I  N  T  H  S  N  E  F         p.400

          .         .         .     | 07   .         .         .    g.112287
 AAAGAGAGTGCCCTTACCTTAGCTTGTTACAAAG | GACACTTAGAGATGGTGCGATTTCTT    c.1260
 K  E  S  A  L  T  L  A  C  Y  K  G |   H  L  E  M  V  R  F  L      p.420

          .         .         .         .         .         .       g.112347
 TTGGAAGCAGGCGCGGATCAAGAGCATAAAACAGATGAAATGCACACTGCTCTGATGGAG       c.1320
 L  E  A  G  A  D  Q  E  H  K  T  D  E  M  H  T  A  L  M  E         p.440

           | 08        .         .         .         .         .    g.114786
 GCTTGCATG | GATGGCCATGTTGAAGTAGCTAGGTTACTTCTTGACAGCGGTGCCCAAGTG    c.1380
 A  C  M   | D  G  H  V  E  V  A  R  L  L  L  D  S  G  A  Q  V      p.460

          .         .         .         .         .         .       g.114846
 AACATGCCTGCTGATTCATTTGAGTCACCATTAACTTTGGCTGCATGTGGTGGGCATGTG       c.1440
 N  M  P  A  D  S  F  E  S  P  L  T  L  A  A  C  G  G  H  V         p.480

          .         .         .         .         .         .       g.114906
 GAACTTGCGGCTTTACTTATTGAAAGAGGAGCTAGCCTGGAAGAGGTCAATGATGAAGGT       c.1500
 E  L  A  A  L  L  I  E  R  G  A  S  L  E  E  V  N  D  E  G         p.500

          .         .         .         .         .         .       g.114966
 TATACACCATTGATGGAAGCAGCTCGAGAAGGACATGAAGAAATGGTGGCATTACTTCTT       c.1560
 Y  T  P  L  M  E  A  A  R  E  G  H  E  E  M  V  A  L  L  L         p.520

         | 09.         .         .         .         .         .    g.116406
 GGTCAAG | GAGCAAATATCAATGCACAGACAGAAGAAACTCAAGAAACTGCCTTGACTCTG    c.1620
 G  Q  G |   A  N  I  N  A  Q  T  E  E  T  Q  E  T  A  L  T  L      p.540

          .         .         .         .         .         .       g.116466
 GCTTGCTGTGGAGGCTTTCTGGAAGTGGCAGACTTTCTAATTAAGGCAGGAGCCGATATA       c.1680
 A  C  C  G  G  F  L  E  V  A  D  F  L  I  K  A  G  A  D  I         p.560

          .         .         .         .         .         .       g.116526
 GAACTAGGGTGTTCTACCCCTTTAATGGAAGCTGCTCAAGAGGGTCATTTGGAGTTAGTT       c.1740
 E  L  G  C  S  T  P  L  M  E  A  A  Q  E  G  H  L  E  L  V         p.580

          .          | 10        .         .         .         .    g.116953
 AAATACTTATTAGCTGCAG | GAGCTAACGTTCATGCAACAACAGCAACAGGGGATACAGCA    c.1800
 K  Y  L  L  A  A  G |   A  N  V  H  A  T  T  A  T  G  D  T  A      p.600

          .         .         .         .         .         .       g.117013
 CTAACATATGCCTGTGAAAATGGTCATACTGATGTAGCAGATGTCTTACTTCAGGCAGGC       c.1860
 L  T  Y  A  C  E  N  G  H  T  D  V  A  D  V  L  L  Q  A  G         p.620

           | 11        .         .         .         .         .    g.119004
 GCAGATCTG | GAACATGAATCTGAAGGTGGAAGAACTCCTTTAATGAAAGCTGCAAGAGCT    c.1920
 A  D  L   | E  H  E  S  E  G  G  R  T  P  L  M  K  A  A  R  A      p.640

          .         .         .        | 12.         .         .    g.121041
 GGTCATGTTTGTACTGTTCAGTTCTTAATTAGTAAAG | GAGCGAATGTGAATAGAACCACA    c.1980
 G  H  V  C  T  V  Q  F  L  I  S  K  G |   A  N  V  N  R  T  T      p.660

          .         .         .         .         .         .       g.121101
 GCTAATAATGACCATACTGTACTGTCCCTGGCTTGTGCAGGGGGTCATCTGGCAGTGGTG       c.2040
 A  N  N  D  H  T  V  L  S  L  A  C  A  G  G  H  L  A  V  V         p.680

          .         .         .         .      | 13  .         .    g.121415
 GAACTACTTTTGGCTCATGGGGCAGATCCTACTCACCGTTTGAAA | GATGGCTCAACTATG    c.2100
 E  L  L  L  A  H  G  A  D  P  T  H  R  L  K   | D  G  S  T  M      p.700

          .         .         .         .         .         .       g.121475
 TTGATAGAAGCAGCAAAAGGTGGCCATACAAGTGTTGTTTGCTATCTCTTGGATTATCCT       c.2160
 L  I  E  A  A  K  G  G  H  T  S  V  V  C  Y  L  L  D  Y  P         p.720

          .         .         .         .         .         .       g.121535
 AATAACTTGCTTTCAGCCCCTCCACCAGATGTCACTCAGTTAACTCCCCCATCCCACGAT       c.2220
 N  N  L  L  S  A  P  P  P  D  V  T  Q  L  T  P  P  S  H  D         p.740

           | 14        .         .         .         .         .    g.121993
 TTAAATAGG | GCTCCTCGTGTACCAGTTCAAGCACTGCCCATGGTTGTTCCACCTCAGGAG    c.2280
 L  N  R   | A  P  R  V  P  V  Q  A  L  P  M  V  V  P  P  Q  E      p.760

          .         .         .         .         .   | 15     .    g.123510
 CCTGACAAACCACCTGCCAATGTTGCCACCACTCTTCCCATCAGGAATAAAG | CTGCTTCT    c.2340
 P  D  K  P  P  A  N  V  A  T  T  L  P  I  R  N  K  A |   A  S      p.780

          .         .         .         .         .         .       g.123570
 AAACAAAAGTCCAGCAGCCATTTGCCAGCAAACAGCCAGGATGTACAGGGTTACATCACC       c.2400
 K  Q  K  S  S  S  H  L  P  A  N  S  Q  D  V  Q  G  Y  I  T         p.800

          .         .         .         .         .         .       g.123630
 AATCAGTCTCCAGAGAGCATTGTAGAAGAGGCTCAGGGAAAGTTAACAGAACTGGAACAG       c.2460
 N  Q  S  P  E  S  I  V  E  E  A  Q  G  K  L  T  E  L  E  Q         p.820

          .         .         .         .         .         .       g.123690
 AGGATAAAAGAAGCCATAGAAAAGAATGCACAGCTGCAGTCCTTGGAACTGGCTCATGCT       c.2520
 R  I  K  E  A  I  E  K  N  A  Q  L  Q  S  L  E  L  A  H  A         p.840

          .         .         .         .         .         .       g.123750
 GACCAACTTACCAAGGAGAAGATCGAGGAGCTCAACAAAACAAGGGAGGAACAAATTCAG       c.2580
 D  Q  L  T  K  E  K  I  E  E  L  N  K  T  R  E  E  Q  I  Q         p.860

          .         .         .         .         .         .       g.123810
 AAGAAACAAAAGATTTTGGAGGAACTACAGAAAGTAGAACGAGAGTTACAACTGAAAACT       c.2640
 K  K  Q  K  I  L  E  E  L  Q  K  V  E  R  E  L  Q  L  K  T         p.880

          .         .         .         .         .         .       g.123870
 CAGCAGCAGCTAAAAAAGCAGTATCTAGAGGTTAAAGCTCAAAGAATTCAACTTCAGCAA       c.2700
 Q  Q  Q  L  K  K  Q  Y  L  E  V  K  A  Q  R  I  Q  L  Q  Q         p.900

          .         .         .         .         .         .       g.123930
 CAGCAGCAACAGTCTTGCCAACACCTGGGATTACTAACTCCTGTTGGAGTTGGAGAGCAG       c.2760
 Q  Q  Q  Q  S  C  Q  H  L  G  L  L  T  P  V  G  V  G  E  Q         p.920

          .         .         .         .         .         .       g.123990
 CTTTCTGAGGGAGACTATGCACGGTTACAGCAAGTGGATCCTGTTTTACTTAAAGATGAA       c.2820
 L  S  E  G  D  Y  A  R  L  Q  Q  V  D  P  V  L  L  K  D  E         p.940

          .         .         .         .         .         .       g.124050
 CCCCAGCAGACTGCTGCTCAGATGGGTTTTGCGCCAATCCAGCCTCTGGCGATGCCTCAA       c.2880
 P  Q  Q  T  A  A  Q  M  G  F  A  P  I  Q  P  L  A  M  P  Q         p.960

          .         .         .         .         .         .       g.124110
 GCTTTGCCTCTGGCGGCAGGTCCCTTGCCTCCAGGGTCCATCGCAAATCTTACAGAACTG       c.2940
 A  L  P  L  A  A  G  P  L  P  P  G  S  I  A  N  L  T  E  L         p.980

          .         .         .         .         .         .       g.124170
 CAAGGAGTGATAGTTGGACAGCCAGTACTGGGCCAAGCACAGTTGGCAGGGCTGGGGCAA       c.3000
 Q  G  V  I  V  G  Q  P  V  L  G  Q  A  Q  L  A  G  L  G  Q         p.1000

          .         .         .         .         .         .       g.124230
 GGAATTCTGACAGAAACACAACAAGGGTTAATGGTAGCCAGCCCTGCTCAGACCCTCAAT       c.3060
 G  I  L  T  E  T  Q  Q  G  L  M  V  A  S  P  A  Q  T  L  N         p.1020

          .         .      | 16  .         .         .         .    g.128555
 GACACGCTGGATGACATCATGGCAG | CAGTCAGTGGAAGAGCATCTGCAATGTCAAACACT    c.3120
 D  T  L  D  D  I  M  A  A |   V  S  G  R  A  S  A  M  S  N  T      p.1040

          .         .         .         .         .         .       g.128615
 CCTACCCACAGTATTGCTGCATCCATTTCCCAACCTCAGACTCCAACTCCAAGTCCTATC       c.3180
 P  T  H  S  I  A  A  S  I  S  Q  P  Q  T  P  T  P  S  P  I         p.1060

          .         .         .         .         .     | 17   .    g.138479
 ATCTCTCCTTCAGCCATGCTTCCTATCTACCCTGCCATTGATATTGATGCACAG | ACTGAG    c.3240
 I  S  P  S  A  M  L  P  I  Y  P  A  I  D  I  D  A  Q   | T  E      p.1080

          .         .         .         .         .         .       g.138539
 AGTAATCATGACACGGCACTAACACTTGCCTGTGCTGGTGGCCACGAGGAACTGGTACAA       c.3300
 S  N  H  D  T  A  L  T  L  A  C  A  G  G  H  E  E  L  V  Q         p.1100

          .         .         .         .       | 18 .         .    g.138741
 ACACTGCTAGAGAGAGGAGCTAGTATAGAGCACCGAGACAAGAAAG | GTTTTACTCCACTC    c.3360
 T  L  L  E  R  G  A  S  I  E  H  R  D  K  K  G |   F  T  P  L      p.1120

          .         .         .         .         .         .       g.138801
 ATCTTGGCTGCCACAGCTGGTCATGTTGGTGTTGTGGAAATATTGCTGGACAATGGTGCA       c.3420
 I  L  A  A  T  A  G  H  V  G  V  V  E  I  L  L  D  N  G  A         p.1140

          .         .         .         .         .         .       g.138861
 GACATTGAAGCCCAGTCTGAAAGAACCAAGGACACACCACTCTCCTTGGCTTGTTCTGGG       c.3480
 D  I  E  A  Q  S  E  R  T  K  D  T  P  L  S  L  A  C  S  G         p.1160

          .   | 19     .         .         .         .         .    g.142074
 GGAAGACAGGAG | GTGGTGGAGCTATTGTTAGCTCGAGGGGCAAATAAAGAGCACAGGAAT    c.3540
 G  R  Q  E   | V  V  E  L  L  L  A  R  G  A  N  K  E  H  R  N      p.1180

          .         .         .         .         .         .       g.142134
 GTTTCTGATTACACACCTCTAAGTCTGGCTGCTTCTGGTGGCTATGTGAACATCATCAAA       c.3600
 V  S  D  Y  T  P  L  S  L  A  A  S  G  G  Y  V  N  I  I  K         p.1200

          .         .         .      | 20  .         .         .    g.142716
 ATATTACTAAATGCAGGAGCTGAGATTAACTCTAG | AACTGGTAGCAAATTGGGCATCTCT    c.3660
 I  L  L  N  A  G  A  E  I  N  S  R  |  T  G  S  K  L  G  I  S      p.1220

          .         .         .         .         .         .       g.142776
 CCTCTGATGTTAGCAGCTATGAATGGGCATACAGCTGCTGTTAAGCTCCTGTTAGACATG       c.3720
 P  L  M  L  A  A  M  N  G  H  T  A  A  V  K  L  L  L  D  M         p.1240

          .         .         .         .         .         .       g.142836
 GGCTCTGACATAAATGCTCAGATAGAAACCAATCGGAACACTGCCCTTACTTTAGCCTGC       c.3780
 G  S  D  I  N  A  Q  I  E  T  N  R  N  T  A  L  T  L  A  C         p.1260

          .         .         .         .         .         .       g.142896
 TTCCAAGGAAGAACTGAAGTGGTTAGTCTTCTGCTTGATAGAAAAGCAAATGTTGAACAC       c.3840
 F  Q  G  R  T  E  V  V  S  L  L  L  D  R  K  A  N  V  E  H         p.1280

           | 21        .         .         .         .         .    g.143499
 AGAGCTAAG | ACTGGTCTCACACCACTAATGGAAGCTGCCTCTGGTGGATATGCGGAGGTG    c.3900
 R  A  K   | T  G  L  T  P  L  M  E  A  A  S  G  G  Y  A  E  V      p.1300

          .         .         .         .         .         .       g.143559
 GGCCGAGTTCTTTTGGATAAAGGTGCTGATGTTAATGCCCCTCCAGTTCCCTCCTCAAGA       c.3960
 G  R  V  L  L  D  K  G  A  D  V  N  A  P  P  V  P  S  S  R         p.1320

          .         .         .         .         .         .       g.143619
 GATACAGCTTTAACCATAGCAGCAGATAAAGGGCATTACAAATTCTGTGAGCTTCTTATT       c.4020
 D  T  A  L  T  I  A  A  D  K  G  H  Y  K  F  C  E  L  L  I         p.1340

       | 22  .         .         .         .         .         .    g.144990
 GGCAG | GGGAGCTCATATTGATGTACGTAACAAGAAGGGGAACACTCCATTGTGGCTAGCA    c.4080
 G  R  |  G  A  H  I  D  V  R  N  K  K  G  N  T  P  L  W  L  A      p.1360

          .         .         .         .         .         .       g.145050
 GCAAATGGTGGACACCTCGATGTGGTTCAGTTACTGGTGCAAGCAGGTGCAGATGTGGAT       c.4140
 A  N  G  G  H  L  D  V  V  Q  L  L  V  Q  A  G  A  D  V  D         p.1380

          .         .         .         .         | 23         .    g.147881
 GCAGCAGATAACCGCAAGATAACTCCTCTTATGGCAGCATTTAGAAAG | GGTCATGTGAAG    c.4200
 A  A  D  N  R  K  I  T  P  L  M  A  A  F  R  K   | G  H  V  K      p.1400

          .         .         .         .         .         .       g.147941
 GTGGTGCGCTACTTAGTCAAAGAAGTCAATCAGTTTCCATCAGATTCTGAATGTATGAGA       c.4260
 V  V  R  Y  L  V  K  E  V  N  Q  F  P  S  D  S  E  C  M  R         p.1420

          .         .     | 24   .         .         .         .    g.149913
 TACATAGCAACCATCACTGATAAG | GAGATGCTGAAGAAGTGTCATCTTTGTATGGAGTCA    c.4320
 Y  I  A  T  I  T  D  K   | E  M  L  K  K  C  H  L  C  M  E  S      p.1440

          .         .         .         .         .         .       g.149973
 ATAGTACAAGCCAAAGATAGACAGGCTGCTGAAGCAAACAAAAACGCCAGCATTTTGTTA       c.4380
 I  V  Q  A  K  D  R  Q  A  A  E  A  N  K  N  A  S  I  L  L         p.1460

          .         .  | 25      .         .         .         .    g.161277
 GAGGAGTTAGACTTGGAAAAG | TTAAGGGAAGAAAGTCGGAGGCTGGCTTTGGCTGCGAAA    c.4440
 E  E  L  D  L  E  K   | L  R  E  E  S  R  R  L  A  L  A  A  K      p.1480

          .         .         .         .         .         .       g.161337
 AGAGAAAAAAGAAAAGAGAAGAGAAGGAAGAAAAAGGAAGAACAAAGAAGGAAACTAGAA       c.4500
 R  E  K  R  K  E  K  R  R  K  K  K  E  E  Q  R  R  K  L  E         p.1500

          .         .         .         .         .         .       g.161397
 GAAATTGAAGCCAAAAATAAAGAGAACTTTGAACTCCAAGCTGCTCAAGAAAAAGAAAAG       c.4560
 E  I  E  A  K  N  K  E  N  F  E  L  Q  A  A  Q  E  K  E  K         p.1520

          .    | 26    .         .         .         .         .    g.165312
 CTTAAAGTTGAAG | ATGAGCCTGAAGTCTTGACAGAACCTCCAAGTGCCACAACCACTACT    c.4620
 L  K  V  E  D |   E  P  E  V  L  T  E  P  P  S  A  T  T  T  T      p.1540

          .         .         .         .         .         .       g.165372
 ACCATAGGTATATCTGCAACCTGGACAACTTTGGCAGGTTCTCATGGTAAAAGAAATAAT       c.4680
 T  I  G  I  S  A  T  W  T  T  L  A  G  S  H  G  K  R  N  N         p.1560

          .         .         .         .         .         .       g.165432
 ACCATAACTACAACCAGTTCAAAGAGGAAAAACAGGAAAAATAAAATTACTCCAGAAAAC       c.4740
 T  I  T  T  T  S  S  K  R  K  N  R  K  N  K  I  T  P  E  N         p.1580

          .         .         .         .         .         .       g.165492
 GTTCAAATTATATTTGATGATCCACTACCAATTTCATACAGTCAGCCAGAGAAGGTGAAT       c.4800
 V  Q  I  I  F  D  D  P  L  P  I  S  Y  S  Q  P  E  K  V  N         p.1600

          .         .         .         .         .         .       g.165552
 GGAGAGTCCAAGAGCAGCAGTACCAGCGAGAGTGGGGACAGTGATAACATGAGGATTTCC       c.4860
 G  E  S  K  S  S  S  T  S  E  S  G  D  S  D  N  M  R  I  S         p.1620

          .         .         .         .         .         .       g.165612
 AGCTGCAGCGATGAAAGTAGTAACAGCAACAGCAGTCGTAAGAGTGACAATCATTCACCA       c.4920
 S  C  S  D  E  S  S  N  S  N  S  S  R  K  S  D  N  H  S  P         p.1640

          .         .         .         .         .         .       g.165672
 GCTGTGGTCACTACCACTGTGAGCAGCAAAAAGCAGCCATCAGTTCTTGTTACATTTCCA       c.4980
 A  V  V  T  T  T  V  S  S  K  K  Q  P  S  V  L  V  T  F  P         p.1660

          .         .         .         .  | 27      .         .    g.166532
 AAGGAAGAGAGAAAATCTGTTTCTGGCAAGGCTTCAATAAA | ATTGTCAGAAACTATCAGT    c.5040
 K  E  E  R  K  S  V  S  G  K  A  S  I  K  |  L  S  E  T  I  S      p.1680

          .         .         .         .         .         .       g.166592
 GAAGGGACCAGTAATTCTCTATCTACTTGTACAAAATCTGGTCCATCTCCCCTTTCTTCT       c.5100
 E  G  T  S  N  S  L  S  T  C  T  K  S  G  P  S  P  L  S  S         p.1700

          .         .         .         .         .         .       g.166652
 CCAAATGGGAAGTTAACAGTAGCAAGTCCTAAGCGTGGGCAAAAGAGGGAAGAAGGATGG       c.5160
 P  N  G  K  L  T  V  A  S  P  K  R  G  Q  K  R  E  E  G  W         p.1720

          .        | 28.         .         .         .         .    g.169600
 AAAGAAGTTGTAAGAAG | GTCAAAGAAAGTATCTGTTCCATCAACTGTGATATCCAGAGTG    c.5220
 K  E  V  V  R  R  |  S  K  K  V  S  V  P  S  T  V  I  S  R  V      p.1740

          .         .         .         .         .         .       g.169660
 ATTGGAAGAGGAGGCTGTAATATCAATGCTATTCGGGAGTTTACTGGTGCACACATAGAT       c.5280
 I  G  R  G  G  C  N  I  N  A  I  R  E  F  T  G  A  H  I  D         p.1760

          .         .         .         .        | 29.         .    g.171498
 ATTGATAAACAGAAAGACAAGACTGGAGACCGGATAATCACTATAAG | GGGTGGCACTGAA    c.5340
 I  D  K  Q  K  D  K  T  G  D  R  I  I  T  I  R  |  G  G  T  E      p.1780

          .         .         .         .         .         .       g.171558
 TCAACAAGACAAGCAACTCAATTGATTAATGCTTTGATCAAGGATCCAGACAAAGAAATT       c.5400
 S  T  R  Q  A  T  Q  L  I  N  A  L  I  K  D  P  D  K  E  I         p.1800

          .         .         .         .         .         .       g.171618
 GATGAACTTATTCCAAAGAATCGTTTGAAAAGCTCCTCAGCAAATTCCAAAATAGGGTCA       c.5460
 D  E  L  I  P  K  N  R  L  K  S  S  S  A  N  S  K  I  G  S         p.1820

          .         .         .         .         .         .       g.171678
 TCAGCACCTACCACCACTGCTGCTAACACTTCCTTAATGGGAATTAAAATGACAACTGTA       c.5520
 S  A  P  T  T  T  A  A  N  T  S  L  M  G  I  K  M  T  T  V         p.1840

          .         .         .         .         .         .       g.171738
 GCTCTGTCATCAACATCTCAAACTGCCACAGCACTCACTGTGCCTGCAATTTCTTCTGCA       c.5580
 A  L  S  S  T  S  Q  T  A  T  A  L  T  V  P  A  I  S  S  A         p.1860

          .         .         .         .         .         .       g.171798
 TCCACTCACAAAACCATTAAGAACCCAGTGAATAATGTGAGGCCTGGTTTTCCAGTTTCT       c.5640
 S  T  H  K  T  I  K  N  P  V  N  N  V  R  P  G  F  P  V  S         p.1880

          .         .         .         .         .         .       g.171858
 CTTCCATTAGCATATCCTCCTCCACAGTTTGCACATGCTTTGCTTGCTGCTCAGACTTTC       c.5700
 L  P  L  A  Y  P  P  P  Q  F  A  H  A  L  L  A  A  Q  T  F         p.1900

          .         .         .         .         .         .       g.171918
 CAGCAGATCCGTCCACCAAGGTTGCCCATGACCCACTTTGGAGGTACTTTTCCACCAGCT       c.5760
 Q  Q  I  R  P  P  R  L  P  M  T  H  F  G  G  T  F  P  P  A         p.1920

          .         .         .         .         .         .       g.171978
 CAATCCACTTGGGGTCCGTTTCCTGTCAGGCCTTTGAGCCCTGCCAGAGCTACTAACTCG       c.5820
 Q  S  T  W  G  P  F  P  V  R  P  L  S  P  A  R  A  T  N  S         p.1940

          .         .         .         .         .         .       g.172038
 CCTAAGCCTCACATGGTGCCTCGCCATAGCAATCAGAATAGCAGTGGTTCTCAGGTGAAT       c.5880
 P  K  P  H  M  V  P  R  H  S  N  Q  N  S  S  G  S  Q  V  N         p.1960

          .         .         .         .         .         .       g.172098
 TCAGCAGGTTCTTTAACTTCAAGCCCAACAACTACAACCAGTTCATCAGCTTCAACGGTG       c.5940
 S  A  G  S  L  T  S  S  P  T  T  T  T  S  S  S  A  S  T  V         p.1980

          .         .         .         .         .         .       g.172158
 CCTGGTACATCTACAAATGGCAGTCCAAGTTCACCTTCTGTCCGAAGGCAGCTTTTTGTC       c.6000
 P  G  T  S  T  N  G  S  P  S  S  P  S  V  R  R  Q  L  F  V         p.2000

          .         .         .         .         .         .       g.172218
 ACAGTTGTGAAGACATCCAATGCCACCACAACAACAGTCACAACCACGGCAAGCAACAAC       c.6060
 T  V  V  K  T  S  N  A  T  T  T  T  V  T  T  T  A  S  N  N         p.2020

          .         .         .         .         .         .       g.172278
 AACACTGCACCCACAAATGCCACATATCCTATGCCTACTGCCAAAGAACACTATCCAGTA       c.6120
 N  T  A  P  T  N  A  T  Y  P  M  P  T  A  K  E  H  Y  P  V         p.2040

          .         .         .         .         .         .       g.172338
 TCATCCCCATCTTCCCCATCACCACCAGCCCAGCCAGGAGGGGTTTCTAGAAACAGCCCT       c.6180
 S  S  P  S  S  P  S  P  P  A  Q  P  G  G  V  S  R  N  S  P         p.2060

          .         .         .         .         .         .       g.172398
 TTGGATTGTGGATCAGCATCTCCAAATAAAGTGGCATCTTCCTCCGAACAGGAAGCAGGT       c.6240
 L  D  C  G  S  A  S  P  N  K  V  A  S  S  S  E  Q  E  A  G         p.2080

          .         .         .         .         .         .       g.172458
 AGTCCACCAGTAGTAGAAACAACAAACACTAGACCTCCAAACAGCAGCAGTTCTTCTGGG       c.6300
 S  P  P  V  V  E  T  T  N  T  R  P  P  N  S  S  S  S  S  G         p.2100

          .         .         .         .         .         .       g.172518
 AGTTCATCAGCTCATTCTAATCAGCAACAACCTCCGGGATCTGTTTCTCAGGAACCAAGA       c.6360
 S  S  S  A  H  S  N  Q  Q  Q  P  P  G  S  V  S  Q  E  P  R         p.2120

          .         .         .         .         .         .       g.172578
 CCACCTCTTCAGCAGTCTCAGGTTCCTCCCCCGGAAGTTAGAATGACTGTTCCTCCTTTA       c.6420
 P  P  L  Q  Q  S  Q  V  P  P  P  E  V  R  M  T  V  P  P  L         p.2140

          .         .         .         .         .         .       g.172638
 GCAACAAGTTCTGCTCCAGTGGCGGTGCCTTCTACTGCCCCAGTGACTTACCCTATGCCT       c.6480
 A  T  S  S  A  P  V  A  V  P  S  T  A  P  V  T  Y  P  M  P         p.2160

          .         .         .         .         .         .       g.172698
 CAGACACCAATGGGATGCCCCCAGCCTACTCCTAAAATGGAAACCCCTGCTATTAGACCA       c.6540
 Q  T  P  M  G  C  P  Q  P  T  P  K  M  E  T  P  A  I  R  P         p.2180

          .         .         .         .         .         .       g.172758
 CCCCCTCATGGCACAACTGCCCCTCACAAGAATTCAGCTTCAGTGCAAAATTCATCTGTT       c.6600
 P  P  H  G  T  T  A  P  H  K  N  S  A  S  V  Q  N  S  S  V         p.2200

          .         .         .         .         .         .       g.172818
 GCAGTCCTCAGTGTCAATCACATTAAAAGACCTCACAGTGTTCCCTCTTCTGTCCAGCTA       c.6660
 A  V  L  S  V  N  H  I  K  R  P  H  S  V  P  S  S  V  Q  L         p.2220

          .         .         .         .         .         .       g.172878
 CCTTCGACCTTAAGTACACAAAGTGCTTGTCAGAATTCAGTACATCCAGCAAATAAGCCT       c.6720
 P  S  T  L  S  T  Q  S  A  C  Q  N  S  V  H  P  A  N  K  P         p.2240

          .         .         .         .         .         .       g.172938
 ATTGCTCCCAATTTCAGTGCCCCCTTACCATTTGGGCCCTTTAGCACATTGTTTGAAAAC       c.6780
 I  A  P  N  F  S  A  P  L  P  F  G  P  F  S  T  L  F  E  N         p.2260

          .         .         .         .         .         .       g.172998
 AGCCCTACTTCTGCTCATGCCTTCTGGGGAGGATCTGTTGTTTCATCTCAGTCAACACCA       c.6840
 S  P  T  S  A  H  A  F  W  G  G  S  V  V  S  S  Q  S  T  P         p.2280

          .         .         .         .         .         .       g.173058
 GAATCTATGCTATCAGGAAAATCCTCATATTTGCCAAATTCAGATCCTTTACATCAGTCT       c.6900
 E  S  M  L  S  G  K  S  S  Y  L  P  N  S  D  P  L  H  Q  S         p.2300

          .         .         .         .         .         .       g.173118
 GATACTTCCAAAGCTCCAGGTTTTAGACCACCATTACAGAGACCTGCTCCAAGTCCCTCA       c.6960
 D  T  S  K  A  P  G  F  R  P  P  L  Q  R  P  A  P  S  P  S         p.2320

   | 30      .         .         .         .         .         .    g.178398
 G | GTATTGTCAATATGGACTCGCCATATGGTTCTGTAACACCTTCTTCAACACATTTGGGA    c.7020
 G |   I  V  N  M  D  S  P  Y  G  S  V  T  P  S  S  T  H  L  G      p.2340

          .         .         .         .         .         .       g.178458
 AACTTTGCTTCAAACATTTCAGGAGGTCAGATGTACGGACCTGGGGCACCCCTTGGAGGA       c.7080
 N  F  A  S  N  I  S  G  G  Q  M  Y  G  P  G  A  P  L  G  G         p.2360

          .         .         .         .         .         .       g.178518
 GCACCCGCAGCTGCTAACTTTAACAGACAACATTTTTCCCCGCTTAGTTTGTTGACTCCG       c.7140
 A  P  A  A  A  N  F  N  R  Q  H  F  S  P  L  S  L  L  T  P         p.2380

          .          | 31        .         .         .         .    g.184936
 TGTTCATCAGCATCAAATG | ATTCTTCTGCACAGTCAGTATCCTCGGGAGTTCGTGCACCA    c.7200
 C  S  S  A  S  N  D |   S  S  A  Q  S  V  S  S  G  V  R  A  P      p.2400

          .         .         .         .         .         .       g.184996
 TCTCCTGCCCCATCATCAGTACCGTTAGGGTCAGAAAAGCCCAGCAATGTGTCTCAGGAC       c.7260
 S  P  A  P  S  S  V  P  L  G  S  E  K  P  S  N  V  S  Q  D         p.2420

          .         .         .         .         .         .       g.185056
 AGGAAAGTTCCAGTCCCTATTGGGACTGAACGTTCTGCACGTATCAGGCAAACTGGAACG       c.7320
 R  K  V  P  V  P  I  G  T  E  R  S  A  R  I  R  Q  T  G  T         p.2440

          .         .         .         .         .         .       g.185116
 TCAGCTCCATCTGTTATTGGGAGCAATTTGTCTACATCAGTAGGACATAGTGGCATCTGG       c.7380
 S  A  P  S  V  I  G  S  N  L  S  T  S  V  G  H  S  G  I  W         p.2460

          .         .         | 32         .         .         .    g.186284
 TCCTTTGAAGGGATTGGTGGCAATCAAG | ACAAAGTAGACTGGTGTAACCCTGGGATGGGA    c.7440
 S  F  E  G  I  G  G  N  Q  D |   K  V  D  W  C  N  P  G  M  G      p.2480

          .         .         .         .         .         .       g.186344
 AATCCTATGATCCACAGACCGATGTCTGACCCAGGAGTATTTTCACAACATCAAGCAATG       c.7500
 N  P  M  I  H  R  P  M  S  D  P  G  V  F  S  Q  H  Q  A  M         p.2500

          .         .         .         .         .         .       g.186404
 GAGCGAGATAGTACAGGAATTGTAACTCCTTCTGGTACATTCCATCAGCATGTTCCTGCA       c.7560
 E  R  D  S  T  G  I  V  T  P  S  G  T  F  H  Q  H  V  P  A         p.2520

          .         .        | 33.         .         .         .    g.186714
 GGCTACATGGACTTTCCTAAAGTTGGG | GGTATGCCTTTTTCTGTGTATGGGAATGCAATG    c.7620
 G  Y  M  D  F  P  K  V  G   | G  M  P  F  S  V  Y  G  N  A  M      p.2540

          .         .         .         .         .         .       g.186774
 ATTCCTCCAGTAGCACCTATCCCTGATGGTGCTGGAGGACCCATATTTAATGGCCCTCAT       c.7680
 I  P  P  V  A  P  I  P  D  G  A  G  G  P  I  F  N  G  P  H         p.2560

          .         .         .         .         .         .       g.186834
 GCTGCAGACCCTTCTTGGAACTCACTGATAAAGATGGTTTCCAGCTCCACGGAAAATAAT       c.7740
 A  A  D  P  S  W  N  S  L  I  K  M  V  S  S  S  T  E  N  N         p.2580

          .   | 34     .         .         .         .         .    g.187543
 GGCCCTCAAACG | GTGTGGACTGGACCCTGGGCACCTCACATGAACAGTGTGCATATGAAC    c.7800
 G  P  Q  T   | V  W  T  G  P  W  A  P  H  M  N  S  V  H  M  N      p.2600

          .                                                         g.187555
 CAGCTTGGCTGA                                                       c.7812
 Q  L  G  X                                                         p.2603

          .         .         .         .         .         .       g.187615
 tgaggatcagcttgttagcctgcagattccttttcatttggaggaaatcacaagtggccg       c.*60

          .         .         .         .         .         .       g.187675
 aaaaaaaaaattatgctcccaaatcattctactgatgtgcttgactgaagtgtgtaggct       c.*120

          .         .         .         .         .         .       g.187735
 ttttgcagaagatcttactaactgacctattttctgtgaacatttgtgactgcccattcc       c.*180

          .         .         .         .         .         .       g.187795
 ccatcatcatccgttttaccttagttagcatttttcttatcatttttctttttttctttc       c.*240

          .         .         .         .         .         .       g.187855
 cctcttcccctttggacataactttctgttgaagctgttctttggctggttggttttagt       c.*300

          .         .         .         .         .         .       g.187915
 actgtaaactgcttctgagcaaacacggaaatttagcaaaattatgtaaacttgatcctg       c.*360

          .         .         .         .         .         .       g.187975
 aagttttagaatggcaaataaatgtacaattgtttacataacagaaaaggctaagcagaa       c.*420

          .         .         .         .         .         .       g.188035
 agtaaatttcaatatgtcagtatagaggctctactttatgtagacttaaattaatgtgag       c.*480

          .         .         .         .         .         .       g.188095
 atatgtaccttcatattcagaaatctggatgtttccttcatacattaaactattaataag       c.*540

          .         .         .         .         .         .       g.188155
 cataacttttctactggtgtaatttaagtataaagtaaaataatgggcattatcattgga       c.*600

          .         .         .         .         .         .       g.188215
 tgtttccccacattggcttttaaaatacccatcttgctttctttttggtttatttgtagc       c.*660

          .         .         .         .         .         .       g.188275
 aaggcacatatagaagaagaaatttctggcttttccatgttgttttattaccttttctca       c.*720

          .         .         .         .         .         .       g.188335
 cttttaaaactaatacagacttatctcctcactcctttttctctccttacctttaccact       c.*780

          .         .         .         .         .         .       g.188395
 aataccagtaaaattatctttctgatagtgaaaaggttctgtcaagattttcactgtaat       c.*840

          .         .         .         .         .         .       g.188455
 ggctgctacagagatggaccatcttcatcatcaccagtggtttcttctaattataaaatg       c.*900

          .         .         .         .         .         .       g.188515
 tttaaactttctgagaatttaaaaagccaccactgttcccagtcagcatatacaagctct       c.*960

          .         .         .         .         .         .       g.188575
 taatattctgtttattaaataattcaatgtactattttatattggatgatattgattctt       c.*1020

          .         .         .         .         .         .       g.188635
 aacattggcttttcagtcatcaacagtcaacataaaaatttcaattttcagtaatttagt       c.*1080

          .         .         .         .         .         .       g.188695
 ggaaaatatcttatttcttttttcaattttaaaggcttcctgcttttttacccttgtata       c.*1140

          .         .         .         .         .         .       g.188755
 ttatcagtgaaaaggatcaacagttaatttgagccaagtaataaaagaaattctgcattt       c.*1200

          .         .         .         .         .         .       g.188815
 gtcacgaagacaatttatggtagacagataaatacacagattacagtgtaaagtctccat       c.*1260

          .         .         .         .         .         .       g.188875
 ttaacctgtttataaaagatacaaggccacactaaactactcagtgggatttatatattc       c.*1320

          .         .         .         .         .         .       g.188935
 catccacttgaaacaataaacagtaatgtatccaagaagattatgtgtcctaccctgtct       c.*1380

          .         .         .         .         .         .       g.188995
 catggaaaaattaattatatggttgaaatgtaaaagaaagtaagcataaaaatcgagtaa       c.*1440

                                                                    g.189001
 tgtata                                                             c.*1446

 (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 Ankyrin repeat domain 17 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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