ataxin 1 (ATXN1) - coding DNA reference sequence

(used for variant description)

(last modified March 20, 2017)


This file was created to facilitate the description of sequence variants on transcript NM_000332.3 in the ATXN1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011571.1, covering ATXN1 transcript NM_000332.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5011
                                                  gaggagagagc       c.-961

 .         .         .         .         .         .                g.5071
 agagtataccgcagacatcatttctactacagtggcggagccgtacaggacctgtttcac       c.-901

 .         .         .         .         .         .                g.5131
 tgcagggggatccaaaacaagccccgtggagcagcagccagagcaacagcagccgcaaga       c.-841

 .         .         .         .         .         .                g.5191
 cattgtttctctccctctgcccccccttccccacgcaaccccagatccatttacacttta       c.-781

 .  | 02      .         .         .         .         . | 03        g.13152
 ca | gttttacctcacaaaaactactacaagcaccaagctccctgatggaaag | gagcatcgt c.-721

 .         .         .         .         .         .                g.13212
 gcatcaagtcaccagggtggtccattcaagctgcagatttgtttgtcatccttgtacagc       c.-661

 .         .         .         .         .      | 04  .             g.108603
 aatctcctcctccactgccactacagggaagtgcatcacatgtcag | catactggagcata    c.-601

 .         .         .         .         .         .                g.108663
 gtgaaagagtctattttgaagcttcaaacttagtgctgctgcagaccaggaacaagagag       c.-541

 .         .         .         .         .         .  | 05          g.180591
 aaagagtggatttcagcctgcacggatggtcttgaaacacaaatggtttttg | gtctaggc    c.-481

 .         .         .         .         .         .                g.180651
 gttttacactgagattctccactgccaccctttctactcaagcaaaatcttcgtgaaaag       c.-421

 .         .         .         .         .         .                g.180711
 atctgctgcaaggaactgatagcttatggttctccattgtgatgaaagcacatggtacag       c.-361

  | 06        .         .         .         .         .             g.243862
  | ttttccaaagaaattagaccattttcttcgtgagaaagaaatcgacgtgctgttttcata    c.-301

 .  | 07      .         .         .         .         .             g.280439
 gg | gtatttctcacttctctgtgaaaggaagaaagaacacgcctgagcccaagagccctca    c.-241

 .         .         .         .         .         .                g.280499
 ggagccctccagagcctgtgggaagtctccatggtgaagtataggctgaggctacctgtg       c.-181

 .         .          | 08        .         .         .             g.438060
 aacagtacgcagtgaatgtt | catccagagctgctgttggcggattgtacccacggggaga    c.-121

 .         .         .         .         .         .                g.438120
 tgattcctcatgaagagcctggatcccctacagaaatcaaatgtgactttccgtttatca       c.-61

 .         .         .         .         .         .                g.438180
 gactaaaatcagagccatccagacagtgaaacagtcaccgtggaggggggacggcgaaaa       c.-1

          .         .         .         .         .         .       g.438240
 ATGAAATCCAACCAAGAGCGGAGCAACGAATGCCTGCCTCCCAAGAAGCGCGAGATCCCC       c.60
 M  K  S  N  Q  E  R  S  N  E  C  L  P  P  K  K  R  E  I  P         p.20

          .         .         .         .         .         .       g.438300
 GCCACCAGCCGGTCCTCCGAGGAGAAGGCCCCTACCCTGCCCAGCGACAACCACCGGGTG       c.120
 A  T  S  R  S  S  E  E  K  A  P  T  L  P  S  D  N  H  R  V         p.40

          .         .         .         .         .         .       g.438360
 GAGGGCACAGCATGGCTCCCGGGCAACCCTGGTGGCCGGGGCCACGGGGGCGGGAGGCAT       c.180
 E  G  T  A  W  L  P  G  N  P  G  G  R  G  H  G  G  G  R  H         p.60

          .         .         .         .         .         .       g.438420
 GGGCCGGCAGGGACCTCGGTGGAGCTTGGTTTACAACAGGGAATAGGTTTACACAAAGCA       c.240
 G  P  A  G  T  S  V  E  L  G  L  Q  Q  G  I  G  L  H  K  A         p.80

          .         .         .         .         .         .       g.438480
 TTGTCCACAGGGCTGGACTACTCCCCGCCCAGCGCTCCCAGGTCTGTCCCCGTGGCCACC       c.300
 L  S  T  G  L  D  Y  S  P  P  S  A  P  R  S  V  P  V  A  T         p.100

          .         .         .         .         .         .       g.438540
 ACGCTGCCTGCCGCGTACGCCACCCCGCAGCCAGGGACCCCGGTGTCCCCCGTGCAGTAC       c.360
 T  L  P  A  A  Y  A  T  P  Q  P  G  T  P  V  S  P  V  Q  Y         p.120

          .         .         .         .         .         .       g.438600
 GCTCACCTGCCGCACACCTTCCAGTTCATTGGGTCCTCCCAATACAGTGGAACCTATGCC       c.420
 A  H  L  P  H  T  F  Q  F  I  G  S  S  Q  Y  S  G  T  Y  A         p.140

          .         .         .         .         .         .       g.438660
 AGCTTCATCCCATCACAGCTGATCCCCCCAACCGCCAACCCCGTCACCAGTGCAGTGGCC       c.480
 S  F  I  P  S  Q  L  I  P  P  T  A  N  P  V  T  S  A  V  A         p.160

          .         .         .         .         .         .       g.438720
 TCGGCCGCAGGGGCCACCACTCCATCCCAGCGCTCCCAGCTGGAGGCCTATTCCACTCTG       c.540
 S  A  A  G  A  T  T  P  S  Q  R  S  Q  L  E  A  Y  S  T  L         p.180

          .         .         .         .         .         .       g.438780
 CTGGCCAACATGGGCAGTCTGAGCCAGACGCCGGGACACAAGGCTGAGCAGCAGCAGCAG       c.600
 L  A  N  M  G  S  L  S  Q  T  P  G  H  K  A  E  Q  Q  Q  Q         p.200

          .         .         .         .         .         .       g.438840
 CAGCAGCAGCAGCAGCAGCAGCAGCATCAGCATCAGCAGCAGCAGCAGCAGCAGCAGCAG       c.660
 Q  Q  Q  Q  Q  Q  Q  Q  H  Q  H  Q  Q  Q  Q  Q  Q  Q  Q  Q         p.220

          .         .         .         .         .         .       g.438900
 CAGCAGCAGCAGCAGCACCTCAGCAGGGCTCCGGGGCTCATCACCCCGGGGTCCCCCCCA       c.720
 Q  Q  Q  Q  Q  H  L  S  R  A  P  G  L  I  T  P  G  S  P  P         p.240

          .         .         .         .         .         .       g.438960
 CCAGCCCAGCAGAACCAGTACGTCCACATTTCCAGTTCTCCGCAGAACACCGGCCGCACC       c.780
 P  A  Q  Q  N  Q  Y  V  H  I  S  S  S  P  Q  N  T  G  R  T         p.260

          .         .         .         .         .         .       g.439020
 GCCTCTCCTCCGGCCATCCCCGTCCACCTCCACCCCCACCAGACGATGATCCCACACACG       c.840
 A  S  P  P  A  I  P  V  H  L  H  P  H  Q  T  M  I  P  H  T         p.280

          .         .         .         .         .         .       g.439080
 CTCACCCTGGGGCCCCCCTCCCAGGTCGTCATGCAATACGCCGACTCCGGCAGCCACTTT       c.900
 L  T  L  G  P  P  S  Q  V  V  M  Q  Y  A  D  S  G  S  H  F         p.300

          .         .         .         .         .         .       g.439140
 GTCCCTCGGGAGGCCACCAAGAAAGCTGAGAGCAGCCGGCTGCAGCAGGCCATCCAGGCC       c.960
 V  P  R  E  A  T  K  K  A  E  S  S  R  L  Q  Q  A  I  Q  A         p.320

          .         .         .         .         .         .       g.439200
 AAGGAGGTCCTGAACGGTGAGATGGAGAAGAGCCGGCGGTACGGGGCCCCGTCCTCAGCC       c.1020
 K  E  V  L  N  G  E  M  E  K  S  R  R  Y  G  A  P  S  S  A         p.340

          .         .         .         .         .         .       g.439260
 GACCTGGGCCTGGGCAAGGCAGGCGGCAAGTCGGTTCCTCACCCGTACGAGTCCAGGCAC       c.1080
 D  L  G  L  G  K  A  G  G  K  S  V  P  H  P  Y  E  S  R  H         p.360

          .         .         .         .         .         .       g.439320
 GTGGTGGTCCACCCGAGCCCCTCAGACTACAGCAGTCGTGATCCTTCGGGGGTCCGGGCC       c.1140
 V  V  V  H  P  S  P  S  D  Y  S  S  R  D  P  S  G  V  R  A         p.380

          .         .         .         .         .         .       g.439380
 TCTGTGATGGTCCTGCCCAACAGCAACACGCCCGCAGCTGACCTGGAGGTGCAACAGGCC       c.1200
 S  V  M  V  L  P  N  S  N  T  P  A  A  D  L  E  V  Q  Q  A         p.400

          .         .         .         .         .         .       g.439440
 ACTCATCGTGAAGCCTCCCCTTCTACCCTCAACGACAAAAGTGGCCTGCATTTAGGGAAG       c.1260
 T  H  R  E  A  S  P  S  T  L  N  D  K  S  G  L  H  L  G  K         p.420

          .         .         .         .         .         .       g.439500
 CCTGGCCACCGGTCCTACGCGCTCTCACCCCACACGGTCATTCAGACCACACACAGTGCT       c.1320
 P  G  H  R  S  Y  A  L  S  P  H  T  V  I  Q  T  T  H  S  A         p.440

          .         .         .         .         .         .       g.439560
 TCAGAGCCACTCCCGGTGGGACTGCCAGCCACGGCCTTCTACGCAGGGACTCAACCCCCT       c.1380
 S  E  P  L  P  V  G  L  P  A  T  A  F  Y  A  G  T  Q  P  P         p.460

          .         .         .         .         .         .       g.439620
 GTCATCGGCTACCTGAGCGGCCAGCAGCAAGCAATCACCTACGCCGGCAGCCTGCCCCAG       c.1440
 V  I  G  Y  L  S  G  Q  Q  Q  A  I  T  Y  A  G  S  L  P  Q         p.480

          .         .         .         .         .         .       g.439680
 CACCTGGTGATCCCCGGCACACAGCCCCTGCTCATCCCGGTCGGCAGCACTGACATGGAA       c.1500
 H  L  V  I  P  G  T  Q  P  L  L  I  P  V  G  S  T  D  M  E         p.500

          .         .         .         .         .         .       g.439740
 GCGTCGGGGGCAGCCCCGGCCATAGTCACGTCATCCCCCCAGTTTGCTGCAGTGCCTCAC       c.1560
 A  S  G  A  A  P  A  I  V  T  S  S  P  Q  F  A  A  V  P  H         p.520

          .         .         .         .         .         .       g.439800
 ACGTTCGTCACCACCGCCCTTCCCAAGAGCGAGAACTTCAACCCTGAGGCCCTGGTCACC       c.1620
 T  F  V  T  T  A  L  P  K  S  E  N  F  N  P  E  A  L  V  T         p.540

          .         .         .         .         .         .       g.439860
 CAGGCCGCCTACCCAGCCATGGTGCAGGCCCAGATCCACCTGCCTGTGGTGCAGTCCGTG       c.1680
 Q  A  A  Y  P  A  M  V  Q  A  Q  I  H  L  P  V  V  Q  S  V         p.560

          .         .         .         .         .         .       g.439920
 GCCTCCCCGGCGGCGGCTCCCCCTACGCTGCCTCCCTACTTCATGAAAGGCTCCATCATC       c.1740
 A  S  P  A  A  A  P  P  T  L  P  P  Y  F  M  K  G  S  I  I         p.580

          .         .         .         .         .         .       g.439980
 CAGTTGGCCAACGGGGAGCTAAAGAAGGTGGAAGACTTAAAAACAGAAGATTTCATCCAG       c.1800
 Q  L  A  N  G  E  L  K  K  V  E  D  L  K  T  E  D  F  I  Q         p.600

          .         .         .         .         .         .       g.440040
 AGTGCAGAGATAAGCAACGACCTGAAGATCGACTCCAGCACCGTAGAGAGGATTGAAGAC       c.1860
 S  A  E  I  S  N  D  L  K  I  D  S  S  T  V  E  R  I  E  D         p.620

          .         .         .         .         .        | 09.    g.459634
 AGCCATAGCCCGGGCGTGGCCGTGATACAGTTCGCCGTCGGGGAGCACCGAGCCCAG | GTC    c.1920
 S  H  S  P  G  V  A  V  I  Q  F  A  V  G  E  H  R  A  Q   | V      p.640

          .         .         .         .         .         .       g.459694
 AGCGTTGAAGTTTTGGTAGAGTATCCTTTTTTTGTGTTTGGACAGGGCTGGTCATCCTGC       c.1980
 S  V  E  V  L  V  E  Y  P  F  F  V  F  G  Q  G  W  S  S  C         p.660

          .         .         .         .         .         .       g.459754
 TGTCCGGAGAGAACCAGCCAGCTCTTTGATTTGCCGTGTTCCAAACTCTCAGTTGGGGAT       c.2040
 C  P  E  R  T  S  Q  L  F  D  L  P  C  S  K  L  S  V  G  D         p.680

          .         .         .         .         .         .       g.459814
 GTCTGCATCTCGCTTACCCTCAAGAACCTGAAGAACGGCTCTGTTAAAAAGGGCCAGCCC       c.2100
 V  C  I  S  L  T  L  K  N  L  K  N  G  S  V  K  K  G  Q  P         p.700

          .         .         .         .         .         .       g.459874
 GTGGATCCCGCCAGCGTCCTGCTGAAGCACTCAAAGGCCGACGGCCTGGCGGGCAGCAGA       c.2160
 V  D  P  A  S  V  L  L  K  H  S  K  A  D  G  L  A  G  S  R         p.720

          .         .         .         .         .         .       g.459934
 CACAGGTATGCCGAGCAGGAAAACGGAATCAACCAGGGGAGTGCCCAGATGCTCTCTGAG       c.2220
 H  R  Y  A  E  Q  E  N  G  I  N  Q  G  S  A  Q  M  L  S  E         p.740

          .         .         .         .         .         .       g.459994
 AATGGCGAACTGAAGTTTCCAGAGAAAATGGGATTGCCTGCAGCGCCCTTCCTCACCAAA       c.2280
 N  G  E  L  K  F  P  E  K  M  G  L  P  A  A  P  F  L  T  K         p.760

          .         .         .         .         .         .       g.460054
 ATAGAACCCAGCAAGCCCGCGGCAACGAGGAAGAGGAGGTGGTCGGCGCCAGAGAGCCGC       c.2340
 I  E  P  S  K  P  A  A  T  R  K  R  R  W  S  A  P  E  S  R         p.780

          .         .         .         .         .         .       g.460114
 AAACTGGAGAAGTCAGAAGACGAACCACCTTTGACTCTTCCTAAGCCTTCTCTAATTCCT       c.2400
 K  L  E  K  S  E  D  E  P  P  L  T  L  P  K  P  S  L  I  P         p.800

          .         .         .         .                           g.460162
 CAGGAGGTTAAGATTTGCATTGAAGGCCGGTCTAATGTAGGCAAGTAG                   c.2448
 Q  E  V  K  I  C  I  E  G  R  S  N  V  G  K  X                     p.815

          .         .         .         .         .         .       g.460222
 aggcagcgtgggggaaaggaaacgtggctctcccttatcatttgtatccagattactgta       c.*60

          .         .         .         .         .         .       g.460282
 ctgtaggctaaaataacacagtatttacatgttatcttcttaattttaggtttctgttct       c.*120

          .         .         .         .         .         .       g.460342
 aaccttgtcattagagttacagcaggtgtgtcgcaggagactggtgcatatgctttttcc       c.*180

          .         .         .         .         .         .       g.460402
 acgagtgtctgtcagtgagcgggcgggaggaagggcacagcaggagcggtcagggctcca       c.*240

          .         .         .         .         .         .       g.460462
 ggcatccccggggaagaaaggaacggggcttcacagtgcctgccttctctagcggcacag       c.*300

          .         .         .         .         .         .       g.460522
 aagcagccgggggcgctgactcccgctagtgtcaggagaaaagtcccgtgggaagggtcc       c.*360

          .         .         .         .         .         .       g.460582
 tgcaggggtgcagggttgcacgcatgtgggggtgcacaggcgctgtggcggcgagtgagg       c.*420

          .         .         .         .         .         .       g.460642
 gtctctttttctctgcctccctctgcctcactctcttgctatcggcatgggccggggggg       c.*480

          .         .         .         .         .         .       g.460702
 ttcagagcagtgtcctcctggggttcccacgtgcaaaatcaacatcaggaacccagcttc       c.*540

          .         .         .         .         .         .       g.460762
 agggcatcgcggagacgcgtcagatggcagatttggaaagttaaccatttaaaagaacat       c.*600

          .         .         .         .         .         .       g.460822
 ttttctctccaacatattttacaataaaagcaacttttaattgtatagatatatatttcc       c.*660

          .         .         .         .         .         .       g.460882
 ccctatggggcctgactgcactgatatatattttttttaaagagcaactgccacatgcgg       c.*720

          .         .         .         .         .         .       g.460942
 gatttcatttctgctttttactagtgcagcgatgtcaccagggtgttgtggtggacaggg       c.*780

          .         .         .         .         .         .       g.461002
 aagcccctgctgtcatggccccacatggggtaaggggggttgggggtgggggagagggag       c.*840

          .         .         .         .         .         .       g.461062
 agagcgaacacccacgctggtttctgtgcagtgttaggaaaaccaatcaggttattgcat       c.*900

          .         .         .         .         .         .       g.461122
 tgacttcactcccaagaggtagatgcaaactgcccttcagtgagagcaacagaagctctt       c.*960

          .         .         .         .         .         .       g.461182
 cacgttgagtttgcgaaatctttttgtctttgaactctagtactgtttatagttcatgac       c.*1020

          .         .         .         .         .         .       g.461242
 tatggacaactcgggtgccactttttttttttttcagattccagtgtgacatgaggaatt       c.*1080

          .         .         .         .         .         .       g.461302
 agattttgaagatgagcatatattactatctttaagcatttaaaaatactgttcacactt       c.*1140

          .         .         .         .         .         .       g.461362
 tattaccaagcatcttggtctctcattcaacaagtactgtatctcactttaaactctttg       c.*1200

          .         .         .         .         .         .       g.461422
 gggaaaaaacaaaaacaaaaaaaactaagttgctttctttttttcaacactgtaactaca       c.*1260

          .         .         .         .         .         .       g.461482
 tttcagctctgcagaattgctgaagagcaagatattgaaagtttcaatgtggtttaaagg       c.*1320

          .         .         .         .         .         .       g.461542
 gatgaatgtgaattatgaactagtatgtgacaataaatgaccaccaagtactacctgacg       c.*1380

          .         .         .         .         .         .       g.461602
 ggaggcacttttcactttgatgtctgagaatcagttcaaggcatatgcagagttggcaga       c.*1440

          .         .         .         .         .         .       g.461662
 gaaactgagagaaaagggatggagaagagaatactcatttttgtccagtgtttttctttt       c.*1500

          .         .         .         .         .         .       g.461722
 taagatgaacttttaaagaaccttgcgatttgcacatattgagtttataacttgtgtgat       c.*1560

          .         .         .         .         .         .       g.461782
 attcctgcagtttttatccaataacattgtgggaaaggtttgggggactgaacgagcata       c.*1620

          .         .         .         .         .         .       g.461842
 aataaatgtagcaaaatttctttctaacctgcctaaactctaggccattttataaggtta       c.*1680

          .         .         .         .         .         .       g.461902
 tgttcctttgaaaattcattttggtctttttaccacatctgtcacaaaaagccaggtctt       c.*1740

          .         .         .         .         .         .       g.461962
 agcgggctcttagaaactctgagaattttcttcagattcattgagagagttttccataaa       c.*1800

          .         .         .         .         .         .       g.462022
 gacatttatatatgtgagcaagattttttttaaacaattactttattattgttgttatta       c.*1860

          .         .         .         .         .         .       g.462082
 atgttattttcagaatggcttttttttttctattcaaaatcaaatcgagatttaatgttt       c.*1920

          .         .         .         .         .         .       g.462142
 ggtacaaacccagaaagggtatttcatagtttttaaacctttcattcccagagatccgaa       c.*1980

          .         .         .         .         .         .       g.462202
 atatcatttgtgggttttgaatgcatctttaaagtgctttaaaaaaaagttttataagta       c.*2040

          .         .         .         .         .         .       g.462262
 gggagaaatttttaaatattcttacttggatggctgcaactaaactgaacaaatacctga       c.*2100

          .         .         .         .         .         .       g.462322
 cttttcttttaccccattgaaaatagtactttcttcgtttcacaaattaaaaaaaaaatc       c.*2160

          .         .         .         .         .         .       g.462382
 tggtatcaacccacattttggctgtctagtattcatttacatttagggttcaccaggact       c.*2220

          .         .         .         .         .         .       g.462442
 aatgatttttataaaccgttttctggggtgtaccaaaaacatttgaataggtttagaata       c.*2280

          .         .         .         .         .         .       g.462502
 gctagaatagttccttgactttcctcgaatttcattaccctctcagcatgcttgcagaga       c.*2340

          .         .         .         .         .         .       g.462562
 gctgggtgggctcattcttgcagtcatactgcttatttagtgctgtattttttaaacgtt       c.*2400

          .         .         .         .         .         .       g.462622
 tctgttcagagaacttgcttaatcttccatatattctgctcagggcacttgcaattatta       c.*2460

          .         .         .         .         .         .       g.462682
 ggttttgtttttctttttgttttttagcctttgatggtaagaggaatacgggctgccaca       c.*2520

          .         .         .         .         .         .       g.462742
 tagactttgttctcattaatatcactatttacaactcatgtggactcagaaaaacacaca       c.*2580

          .         .         .         .         .         .       g.462802
 ccaccttttggcttacttcgagtattgaattgactggatccactaaaccaacactaagat       c.*2640

          .         .         .         .         .         .       g.462862
 gggaaaacacacatggtttggagcaataggaacatcatcataatttttgtggttctattt       c.*2700

          .         .         .         .         .         .       g.462922
 caggtataggaattataaaataattggttctttctaaacacttgtcccatttcattctct       c.*2760

          .         .         .         .         .         .       g.462982
 tgcttttttagcatgtgcaatactttctgtgccaatagagtctgaccagtgtgctatata       c.*2820

          .         .         .         .         .         .       g.463042
 gttaaagctcattcccttttggctttttccttgtttggttgatcttccccattctggcca       c.*2880

          .         .         .         .         .         .       g.463102
 gagcagggctggagggaaggagccaggagggagagagcctcccacctttcccctgctgcg       c.*2940

          .         .         .         .         .         .       g.463162
 gatgctgagtgctggggcggggagccttcaggagccccgtgcgtctgccgccacgttgca       c.*3000

          .         .         .         .         .         .       g.463222
 gaaagagccagccaaggagacccgggggaggaaccgcagtgtcccctgtcaccacacgga       c.*3060

          .         .         .         .         .         .       g.463282
 atagtgaatgtggagtgtggagaggaaggaggcagattcatttctaagacgcactctgga       c.*3120

          .         .         .         .         .         .       g.463342
 gccatgtagcctggagtcaacccattttccacggtcttttctgcaagtgggcaggcccct       c.*3180

          .         .         .         .         .         .       g.463402
 cctcggggtctgtgtccttgagacttggagccctgcctctgagcctggacgggaagtgtg       c.*3240

          .         .         .         .         .         .       g.463462
 gcctgttgtgtgtgtgcgttctgagcgtgttggccagtggctgtggaggggaccacctgc       c.*3300

          .         .         .         .         .         .       g.463522
 cacccacggtcaccactcccttgtggcagctttctcttcaaataggaagaacgcacagag       c.*3360

          .         .         .         .         .         .       g.463582
 ggcaggagcctcctgtttgcagacgttggcgggccccgaggctcccagagcagcctctgt       c.*3420

          .         .         .         .         .         .       g.463642
 caccgcttctgtgtagcaaacattaacgatgacaggggtagaaattcttcggtgccgttc       c.*3480

          .         .         .         .         .         .       g.463702
 agcttacaaggatcagccatgtgcctctgtactatgtccactttgcaatatttaccgaca       c.*3540

          .         .         .         .         .         .       g.463762
 gccgtcttttgttctttctttcctgttttccatttttaaactagtaacagcaggcctttt       c.*3600

          .         .         .         .         .         .       g.463822
 gcgtttacaatggaacacaatcaccaagaaattagtcagggcgaaaagaaaaaaataata       c.*3660

          .         .         .         .         .         .       g.463882
 ctattaataagaaaccaacaaacaagaacctctctttctagggatttctaaatatataaa       c.*3720

          .         .         .         .         .         .       g.463942
 atgactgttccttagaatgtttaacttaagaattatttcagtttgtctgggccacactgg       c.*3780

          .         .         .         .         .         .       g.464002
 ggcagaggggggagggagggatacagagatggatgccacttacctcagatcttttaaagt       c.*3840

          .         .         .         .         .         .       g.464062
 ggaaatccaaattgaattttcatttggactttcaggataattttctatgttggtcaactt       c.*3900

          .         .         .         .         .         .       g.464122
 ttcgttttccctaactcacccagtttagtttgggatgatttgatttctgttgttgttgat       c.*3960

          .         .         .         .         .         .       g.464182
 cccatttctaacttggaattgtgagcctctatgttttctgttaggtgagtgtgttgggtt       c.*4020

          .         .         .         .         .         .       g.464242
 ttttccccccaccaggaagtggcagcatccctccttctcccctaaagggactctgcggaa       c.*4080

          .         .         .         .         .         .       g.464302
 cctttcacacctctttctcagggacggggcaggtgtgtgtgtggtacactgacgtgtcca       c.*4140

          .         .         .         .         .         .       g.464362
 gaagcagcactttgactgctctggagtagggttgtacaatttcaaggaatgtttggattt       c.*4200

          .         .         .         .         .         .       g.464422
 cctgcatcttgtggattactccttagataccgcatagattgcaatataatgctgcatgtt       c.*4260

          .         .         .         .         .         .       g.464482
 caagatgaacagtagctcctagtaatcataaaatccactctttgcacagtttgatcttta       c.*4320

          .         .         .         .         .         .       g.464542
 ctgaaatatgttgccaaaatttatttttgttgttgtagctctggattttgttttgttttg       c.*4380

          .         .         .         .         .         .       g.464602
 ttttttaaggaaacgattgacaataccctttaacatctgtgactactaaggaaacctatt       c.*4440

          .         .         .         .         .         .       g.464662
 tctttcatagagagaaaaatctccaatgcttttgaagacactaataccgtgctatttcag       c.*4500

          .         .         .         .         .         .       g.464722
 atatgggtgaggaagcagagctctcggtaccgaaggccgggcttcttgagctgtgttggt       c.*4560

          .         .         .         .         .         .       g.464782
 tgtcatggctactgtttcatgaaccacaagcagctcaacagactggtctgttgccttctg       c.*4620

          .         .         .         .         .         .       g.464842
 aaaccctttgcacttcaatttgcaccaggtgaaaacagggccagcagactccatggccca       c.*4680

          .         .         .         .         .         .       g.464902
 attcggtttcttcggtggtgatgtgaaaggagagaattacactttttttttttttaagtg       c.*4740

          .         .         .         .         .         .       g.464962
 gcgtggaggcctttgcttccacatttgtttttaacccagaatttctgaaatagagaattt       c.*4800

          .         .         .         .         .         .       g.465022
 aagaacacatcaagtaataaatatacagagaatatacttttttataaagcacatgcatct       c.*4860

          .         .         .         .         .         .       g.465082
 gctattgtgttgggttggtttcctctcttttccacggacagtgttgtgtttctggcatag       c.*4920

          .         .         .         .         .         .       g.465142
 ggaaactccaaacaacttgcacacctctactccggagctgagatttcttttacatagatg       c.*4980

          .         .         .         .         .         .       g.465202
 acctcgcttcaaatacgttaccttactgatgataggatcttttcttgtagcactatacct       c.*5040

          .         .         .         .         .         .       g.465262
 tgtgggaatttttttttaaatgtacacctgatttgagaagctgaagaaaacaaaattttg       c.*5100

          .         .         .         .         .         .       g.465322
 aagcactcactttgaggagtacaggtaatgttttaaaaaattgcacaaaagaaaaatgaa       c.*5160

          .         .         .         .         .         .       g.465382
 tgtcgaaatgattcattcagtgtttgaaagatatggctctgttgaaacaatgagtttcat       c.*5220

          .         .         .         .         .         .       g.465442
 actttgtttgtaaaaaaaaaaaagcagagaagggttgaaagttacatgtttttttgtata       c.*5280

          .         .         .         .         .         .       g.465502
 tagaaatttgtcatgtctaaatgatcagatttgtatggttatggcctggaagaattacta       c.*5340

          .         .         .         .         .         .       g.465562
 cgtaaaaggctcttaaactatacctatgcttattgttatttttgttacatatagccctcg       c.*5400

          .         .         .         .         .         .       g.465622
 tctgagggaggggaactcggtattctgcgatttgagaatactgttcattcctatgctgaa       c.*5460

          .         .         .         .         .         .       g.465682
 agtacttctctgagctcccttcttagtctaaactcttaagccattgcaacttctttttct       c.*5520

          .         .         .         .         .         .       g.465742
 tcagagatgatgtttgacattttcagcacttcctgttcctataaacccaaagaatataat       c.*5580

          .         .         .         .         .         .       g.465802
 cttgaacacgaagtgtttgtaacaagggatccaggctaccaatcaaacaggactcattat       c.*5640

          .         .         .         .         .         .       g.465862
 ggggacaaaaaaaaaaattatttcaccttctttccccccacacctcatttaaatgggggg       c.*5700

          .         .         .         .         .         .       g.465922
 agtaaaaacatgatttcaatgtaaatgcctcattttattttagttttattttgattttta       c.*5760

          .         .         .         .         .         .       g.465982
 tttaatataaagaggccagaataaatacggagcatcttctcagaatagtattcctgtcca       c.*5820

          .         .         .         .         .         .       g.466042
 aaaatcaagccggacagtggaaactggacagctgtggggatattaagcacccccacttac       c.*5880

          .         .         .         .         .         .       g.466102
 aattcttaaattcagaatctcgtcccctcccttctcgttgaaggcaactgttctggtagc       c.*5940

          .         .         .         .         .         .       g.466162
 taactttctcctgtgtaatggcgggagggaacaccggcttcagtttttcatgtccccatg       c.*6000

          .         .         .         .         .         .       g.466222
 acttgcatacaaatggttcaactgtattaaaattaagtgcatttggccaataggtagtat       c.*6060

          .         .         .         .         .         .       g.466282
 ctatacaataacaacaatctctaagaatttccataacttttcttatctgaaaggactcaa       c.*6120

          .         .         .         .         .         .       g.466342
 gtcttccactgcagatacattggaggcttcacccacgttttctttccctttagtttgttt       c.*6180

          .         .         .         .         .         .       g.466402
 gctgtctggatggccaatgagcctgtctccttttctgtggccaatctgaaggccttcgtt       c.*6240

          .         .         .         .         .         .       g.466462
 ggaagtgttgtttacagtaatccttaccaagataacatactgtcctccagaataccaagt       c.*6300

          .         .         .         .         .         .       g.466522
 attaggtgacactagctcaagctgttgtcttcagagcagttaccaagaagctcggtgcac       c.*6360

          .         .         .         .         .         .       g.466582
 aggttttctctggttcttacaggaaccacctactctttcagttttctggcccaggagtgg       c.*6420

          .         .         .         .         .         .       g.466642
 ggtaaatcctttagttagtgcatttgaacttgatacctgtgcattcagttctgtgaatac       c.*6480

          .         .         .         .         .         .       g.466702
 tgccctttttggcggggtttcctcatctccccagcctgaactgctcaactctaaacccaa       c.*6540

          .         .         .         .         .         .       g.466762
 attagtgtcagccgaaaggaggtttcaagatagtcctgtcagtatttgtggtgaccttca       c.*6600

          .         .         .         .         .         .       g.466822
 gattagacagtcttcatttccagccagtggagtcctggctccagagccatctctgagact       c.*6660

          .         .         .         .         .         .       g.466882
 cgtactactggatgttttaatatcagatcattacccaccatatgcctcccacaggccaag       c.*6720

          .         .         .         .         .         .       g.466942
 ggaaaacagacaccagaacttgggttgagggcactaccagactgacatggccagtacaga       c.*6780

          .         .         .         .         .         .       g.467002
 ggagaactagggaaggaatgatgttttgcaccttattgaaaagaaaattttaagtgcata       c.*6840

          .         .         .         .         .         .       g.467062
 cataatagttaagagcttttattgtgacaggagaacttttttccatatgcgtgcatactc       c.*6900

          .         .         .         .         .         .       g.467122
 tctgtaattccagtgtaaaatattgtacttgcactagcttttttaaacaaatattaaaaa       c.*6960

          .         .         .         .         .         .       g.467182
 atggaagaattcatattctattttctaatcgtggtgtgtctatttgtaggatacactcga       c.*7020

          .         .         .         .         .         .       g.467242
 gtctgtttattgaattttatggtccctttctttgatggtgcttgcaggttttctaggtag       c.*7080

          .         .         .         .         .         .       g.467302
 aaattatttcattattataataaaacaatgtttgattcaaaatttgaacaaaattgtttt       c.*7140

          .         .         .         .         .         .       g.467362
 aaataaattgtctgtataccagtacaagtttattgtttcagtatactcgtactaataaaa       c.*7200

          .                                                         g.467379
 taacagtgccaattgca                                                  c.*7217

 (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 Ataxin 1 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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