ankyrin 1, erythrocytic (ANK1) - coding DNA reference sequence

(used for variant description)

(last modified March 5, 2024)


This file was created to facilitate the description of sequence variants on transcript NM_000037.3 in the ANK1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000008.10, covering ANK1 transcript NM_000037.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.104164
                                     agaggctgcggtgagtccgccagc       c.-61

 .         .         .         .         .         .                g.104224
 cccagctgctcctcctcaagcccccaaggcccttcggcgggcccctgctgaaagaccggc       c.-1

          .         .        | 02.         .         .         .    g.143658
 ATGCCCTATTCTGTGGGCTTCCGCGAA | GCCGATGCTGCTACCAGCTTTCTGAGAGCAGCA    c.60
 M  P  Y  S  V  G  F  R  E   | A  D  A  A  T  S  F  L  R  A  A      p.20

          .         .         .         .         .         .       g.143718
 AGATCAGGTAACTTGGACAAAGCTTTGGATCACCTGCGGAATGGGGTAGATATTAACACC       c.120
 R  S  G  N  L  D  K  A  L  D  H  L  R  N  G  V  D  I  N  T         p.40

           | 03        .         .         .         .         .    g.167744
 TGTAACCAG | AATGGGTTGAATGGCTTGCATCTGGCTTCTAAGGAAGGCCATGTGAAAATG    c.180
 C  N  Q   | N  G  L  N  G  L  H  L  A  S  K  E  G  H  V  K  M      p.60

          .         .         .         .         | 04         .    g.173768
 GTGGTTGAACTTCTGCACAAAGAAATCATTCTAGAAACGACAACCAAG | AAGGGGAACACG    c.240
 V  V  E  L  L  H  K  E  I  I  L  E  T  T  T  K   | K  G  N  T      p.80

          .         .         .         .         .         .       g.173828
 GCCCTGCACATCGCTGCTCTAGCCGGGCAGGATGAGGTGGTCCGGGAGCTTGTCAACTAT       c.300
 A  L  H  I  A  A  L  A  G  Q  D  E  V  V  R  E  L  V  N  Y         p.100

          .         .        | 05.         .         .         .    g.174447
 GGAGCCAACGTCAACGCCCAGTCACAG | AAAGGTTTTACACCCCTGTACATGGCAGCACAA    c.360
 G  A  N  V  N  A  Q  S  Q   | K  G  F  T  P  L  Y  M  A  A  Q      p.120

          .         .         .         .         .         .       g.174507
 GAGAACCACTTGGAAGTGGTTAAGTTTTTACTGGAAAATGGAGCTAACCAGAATGTAGCC       c.420
 E  N  H  L  E  V  V  K  F  L  L  E  N  G  A  N  Q  N  V  A         p.140

        | 06 .         .         .         .         .         .    g.175870
 ACAGAA | GACGGCTTCACGCCTCTGGCGGTAGCCCTGCAGCAGGGCCATGAGAACGTCGTC    c.480
 T  E   | D  G  F  T  P  L  A  V  A  L  Q  Q  G  H  E  N  V  V      p.160

          .         .         .         .         .         .       g.175930
 GCGCACCTCATCAACTACGGCACCAAGGGGAAGGTGCGCCTCCCGGCCCTGCACATCGCG       c.540
 A  H  L  I  N  Y  G  T  K  G  K  V  R  L  P  A  L  H  I  A         p.180

          .         .         .         .         .         .       g.175990
 GCCCGCAACGACGACACGCGCACGGCTGCGGTGCTGCTGCAGAACGACCCCAACCCGGAC       c.600
 A  R  N  D  D  T  R  T  A  A  V  L  L  Q  N  D  P  N  P  D         p.200

          .   | 07     .         .         .         .         .    g.177256
 GTGCTTTCCAAG | ACGGGATTCACGCCCCTGCACATTGCGGCTCACTACGAGAACCTCAAC    c.660
 V  L  S  K   | T  G  F  T  P  L  H  I  A  A  H  Y  E  N  L  N      p.220

          .         .         .         .         .  | 08      .    g.178138
 GTGGCCCAGTTGCTCCTCAACAGAGGAGCCAGCGTCAATTTCACACCACAG | AACGGCATC    c.720
 V  A  Q  L  L  L  N  R  G  A  S  V  N  F  T  P  Q   | N  G  I      p.240

          .         .         .         .         .         .       g.178198
 ACGCCACTGCACATCGCCTCCCGCAGGGGCAACGTGATCATGGTGCGGCTGCTGCTGGAT       c.780
 T  P  L  H  I  A  S  R  R  G  N  V  I  M  V  R  L  L  L  D         p.260

          .         .         . | 09       .         .         .    g.178569
 CGGGGAGCCCAGATAGAAACCAAGACCAAG | GACGAATTGACACCTCTCCACTGTGCAGCT    c.840
 R  G  A  Q  I  E  T  K  T  K   | D  E  L  T  P  L  H  C  A  A      p.280

          .         .         .         .         .         .       g.178629
 CGAAATGGGCACGTGCGAATCTCAGAGATCCTGCTGGACCACGGGGCACCAATCCAAGCC       c.900
 R  N  G  H  V  R  I  S  E  I  L  L  D  H  G  A  P  I  Q  A         p.300

           | 10        .         .         .         .         .    g.181955
 AAAACCAAG | AACGGCCTGTCCCCAATTCACATGGCGGCTCAGGGAGACCACCTCGACTGT    c.960
 K  T  K   | N  G  L  S  P  I  H  M  A  A  Q  G  D  H  L  D  C      p.320

          .         .         .         .         .         .       g.182015
 GTCCGGCTCCTGTTGCAATACGACGCAGAGATAGACGACATCACCCTGGACCACCTGACC       c.1020
 V  R  L  L  L  Q  Y  D  A  E  I  D  D  I  T  L  D  H  L  T         p.340

          .         .         .         .         .         .       g.182075
 CCACTCCACGTGGCTGCCCACTGTGGACACCACAGGGTGGCTAAGGTCCTTCTGGATAAA       c.1080
 P  L  H  V  A  A  H  C  G  H  H  R  V  A  K  V  L  L  D  K         p.360

          .         .        | 11.         .         .         .    g.183591
 GGGGCCAAACCCAACTCCAGAGCCCTG | AATGGCTTTACCCCCTTACACATCGCCTGCAAA    c.1140
 G  A  K  P  N  S  R  A  L   | N  G  F  T  P  L  H  I  A  C  K      p.380

          .         .         .         .         .         .       g.183651
 AAGAACCACGTCCGTGTCATGGAGCTGCTGCTGAAGACGGGAGCCTCGATCGACGCGGTC       c.1200
 K  N  H  V  R  V  M  E  L  L  L  K  T  G  A  S  I  D  A  V         p.400

        | 12 .         .         .         .         .         .    g.184114
 ACCGAG | TCTGGCCTGACACCTCTCCACGTGGCCTCCTTCATGGGGCACCTTCCCATCGTG    c.1260
 T  E   | S  G  L  T  P  L  H  V  A  S  F  M  G  H  L  P  I  V      p.420

          .         .         .         .      | 13  .         .    g.184726
 AAGAACCTCCTGCAGCGGGGGGCGTCGCCCAACGTCTCCAACGTG | AAAGTGGAGACCCCG    c.1320
 K  N  L  L  Q  R  G  A  S  P  N  V  S  N  V   | K  V  E  T  P      p.440

          .         .         .         .         .         .       g.184786
 CTACACATGGCAGCCAGAGCCGGGCACACGGAAGTGGCCAAATATTTACTCCAGAACAAA       c.1380
 L  H  M  A  A  R  A  G  H  T  E  V  A  K  Y  L  L  Q  N  K         p.460

          .         .     | 14   .         .         .         .    g.185949
 GCCAAAGTCAATGCCAAGGCCAAG | GATGACCAGACCCCACTTCACTGTGCAGCTCGCATC    c.1440
 A  K  V  N  A  K  A  K   | D  D  Q  T  P  L  H  C  A  A  R  I      p.480

          .         .         .         .         .         .       g.186009
 GGCCACACAAACATGGTGAAGCTCCTGCTGGAAAATAACGCCAACCCCAACCTGGCCACC       c.1500
 G  H  T  N  M  V  K  L  L  L  E  N  N  A  N  P  N  L  A  T         p.500

          .         .         .         .         .         .       g.186069
 ACCGCCGGGCACACCCCCCTGCACATTGCAGCCCGTGAGGGCCATGTGGAAACAGTCCTG       c.1560
 T  A  G  H  T  P  L  H  I  A  A  R  E  G  H  V  E  T  V  L         p.520

          .         .         .         .   | 15     .         .    g.186706
 GCCCTTCTGGAAAAGGAAGCATCCCAGGCCTGCATGACCAAG | AAAGGATTTACCCCTCTG    c.1620
 A  L  L  E  K  E  A  S  Q  A  C  M  T  K   | K  G  F  T  P  L      p.540

          .         .         .         .         .         .       g.186766
 CACGTGGCGGCCAAGTACGGGAAGGTGCGGGTGGCAGAGCTGCTGCTGGAGCGGGACGCA       c.1680
 H  V  A  A  K  Y  G  K  V  R  V  A  E  L  L  L  E  R  D  A         p.560

          .         .  | 16      .         .         .         .    g.187547
 CACCCGAATGCTGCCGGAAAA | AATGGCCTGACCCCCCTGCACGTGGCCGTCCATCACAAC    c.1740
 H  P  N  A  A  G  K   | N  G  L  T  P  L  H  V  A  V  H  H  N      p.580

          .         .         .         .         .         .       g.187607
 AACCTGGACATCGTCAAGCTGCTGCTTCCCCGGGGCGGCTCCCCGCACAGCCCTGCCTGG       c.1800
 N  L  D  I  V  K  L  L  L  P  R  G  G  S  P  H  S  P  A  W         p.600

  | 17       .         .         .         .         .         .    g.192847
  | AATGGCTACACCCCTTTGCACATCGCTGCCAAGCAGAACCAGGTGGAGGTGGCCCGTAGT    c.1860
  | N  G  Y  T  P  L  H  I  A  A  K  Q  N  Q  V  E  V  A  R  S      p.620

          .         .         .         .         .         .       g.192907
 CTGCTGCAGTATGGGGGCTCAGCAAACGCCGAGTCGGTGCAAGGTGTGACGCCCCTTCAC       c.1920
 L  L  Q  Y  G  G  S  A  N  A  E  S  V  Q  G  V  T  P  L  H         p.640

          .         .         .         .         .         .       g.192967
 CTGGCCGCCCAGGAGGGCCACGCAGAGATGGTGGCTCTGCTGCTCTCGAAACAAGCCAAT       c.1980
 L  A  A  Q  E  G  H  A  E  M  V  A  L  L  L  S  K  Q  A  N         p.660

          .         | 18         .         .         .         .    g.195563
 GGCAACCTGGGGAACAAG | AGCGGACTCACTCCCCTCCATCTGGTAGCACAAGAAGGCCAC    c.2040
 G  N  L  G  N  K   | S  G  L  T  P  L  H  L  V  A  Q  E  G  H      p.680

          .         .         .         .         .        | 19.    g.197293
 GTTCCAGTGGCAGATGTGCTGATCAAACACGGCGTCATGGTGGACGCCACCACCCGG | ATG    c.2100
 V  P  V  A  D  V  L  I  K  H  G  V  M  V  D  A  T  T  R   | M      p.700

          .         .         .         .         .         .       g.197353
 GGCTACACTCCCCTCCATGTGGCCAGTCACTATGGAAACATCAAGCTGGTGAAGTTTCTG       c.2160
 G  Y  T  P  L  H  V  A  S  H  Y  G  N  I  K  L  V  K  F  L         p.720

          .         .         .       | 20 .         .         .    g.197647
 CTGCAGCACCAGGCAGATGTCAATGCCAAGACCAAG | CTAGGATACAGCCCCCTGCACCAG    c.2220
 L  Q  H  Q  A  D  V  N  A  K  T  K   | L  G  Y  S  P  L  H  Q      p.740

          .         .         .         .         .         .       g.197707
 GCAGCCCAGCAGGGACACACAGACATCGTGACTCTGCTTCTGAAAAACGGTGCTTCCCCA       c.2280
 A  A  Q  Q  G  H  T  D  I  V  T  L  L  L  K  N  G  A  S  P         p.760

          .      | 21  .         .         .         .         .    g.199663
 AACGAGGTCAGCTCG | GATGGAACCACACCTCTGGCCATAGCCAAGCGCTTGGGCTACATT    c.2340
 N  E  V  S  S   | D  G  T  T  P  L  A  I  A  K  R  L  G  Y  I      p.780

          .         .         .         .         | 22         .    g.200152
 TCTGTCACCGACGTGCTCAAGGTCGTCACGGATGAAACCAGTTTCGTG | TTAGTCAGTGAT    c.2400
 S  V  T  D  V  L  K  V  V  T  D  E  T  S  F  V   | L  V  S  D      p.800

          .         .         .         .         .         .       g.200212
 AAGCATCGAATGAGTTTCCCTGAGACAGTTGATGAGATCCTGGATGTCTCGGAAGATGAA       c.2460
 K  H  R  M  S  F  P  E  T  V  D  E  I  L  D  V  S  E  D  E         p.820

   | 23      .         .         .         .         .         .    g.202273
 G | GGGAAGAACTCATCAGCTTCAAGGCTGAGAGGCGGGATTCCAGGGATGTTGATGAAGAG    c.2520
 G |   E  E  L  I  S  F  K  A  E  R  R  D  S  R  D  V  D  E  E      p.840

          .         .         .         | 24         .         .    g.203663
 AAGGAGCTGCTGGATTTTGTGCCGAAGCTAGACCAAGT | GGTGGAATCTCCAGCCATCCCC    c.2580
 K  E  L  L  D  F  V  P  K  L  D  Q  V  |  V  E  S  P  A  I  P      p.860

          .         .         .         .         .        | 25.    g.204992
 AGGATTCCCTGTGCCATGCCTGAGACAGTGGTGATCAGGTCAGAAGAGCAGGAGCAG | GCA    c.2640
 R  I  P  C  A  M  P  E  T  V  V  I  R  S  E  E  Q  E  Q   | A      p.880

          .         .         .         .         .         .       g.205052
 TCTAAAGAGTATGATGAGGACTCCCTCATCCCCAGCAGCCCGGCCACCGAGACCTCAGAC       c.2700
 S  K  E  Y  D  E  D  S  L  I  P  S  S  P  A  T  E  T  S  D         p.900

          .         .         .      | 26  .         .         .    g.205200
 AACATCAGCCCGGTGGCCAGCCCGGTGCATACAGG | GTTTCTGGTGAGCTTCATGGTTGAC    c.2760
 N  I  S  P  V  A  S  P  V  H  T  G  |  F  L  V  S  F  M  V  D      p.920

          .         .         .         .         .         .       g.205260
 GCCCGGGGTGGTTCCATGAGAGGAAGTCGCCACAACGGCCTGCGAGTGGTGATCCCGCCA       c.2820
 A  R  G  G  S  M  R  G  S  R  H  N  G  L  R  V  V  I  P  P         p.940

          .         .         .         .         .         .       g.205320
 CGGACGTGCGCAGCGCCCACCCGCATCACCTGCCGCCTGGTCAAGCCCCAGAAGCTCAGC       c.2880
 R  T  C  A  A  P  T  R  I  T  C  R  L  V  K  P  Q  K  L  S         p.960

          .         .         .         .         .         .       g.205380
 ACGCCGCCCCCACTGGCCGAGGAGGAGGGCCTGGCCAGCAGGATCATAGCACTGGGGCCC       c.2940
 T  P  P  P  L  A  E  E  E  G  L  A  S  R  I  I  A  L  G  P         p.980

          .         . | 27       .         .         .         .    g.206471
 ACGGGGGCACAGTTCCTGAG | CCCTGTAATCGTGGAGATCCCGCACTTTGCCTCCCATGGC    c.3000
 T  G  A  Q  F  L  S  |  P  V  I  V  E  I  P  H  F  A  S  H  G      p.1000

          .         .         .         .         .         .       g.206531
 CGTGGAGACCGCGAGCTCGTGGTTCTGAGGAGCGAAAACGGCTCCGTGTGGAAGGAGCAC       c.3060
 R  G  D  R  E  L  V  V  L  R  S  E  N  G  S  V  W  K  E  H         p.1020

          .         .         .         .         .      | 28  .    g.206964
 AGGAGCCGCTATGGAGAGAGCTACCTGGATCAGATCCTCAACGGGATGGACGAAG | AGCTG    c.3120
 R  S  R  Y  G  E  S  Y  L  D  Q  I  L  N  G  M  D  E  E |   L      p.1040

          .         .         .         .         .         .       g.207024
 GGGAGCCTGGAGGAGCTAGAGAAGAAGAGGGTGTGCCGAATCATCACCACCGACTTCCCG       c.3180
 G  S  L  E  E  L  E  K  K  R  V  C  R  I  I  T  T  D  F  P         p.1060

          .         .         .         .         .         .       g.207084
 CTGTACTTCGTGATCATGTCACGGCTCTGCCAGGACTACGACACCATCGGTCCCGAAGGG       c.3240
 L  Y  F  V  I  M  S  R  L  C  Q  D  Y  D  T  I  G  P  E  G         p.1080

          .         .         .         .         .         .       g.207144
 GGCTCCCTGAAGAGCAAGCTGGTGCCCCTGGTACAGGCAACGTTCCCGGAGAATGCCGTC       c.3300
 G  S  L  K  S  K  L  V  P  L  V  Q  A  T  F  P  E  N  A  V         p.1100

          .         .        | 29.         .         .         .    g.207693
 ACCAAGAGAGTGAAGCTGGCTCTGCAG | GCCCAGCCTGTCCCGGATGAGCTTGTCACTAAG    c.3360
 T  K  R  V  K  L  A  L  Q   | A  Q  P  V  P  D  E  L  V  T  K      p.1120

          .         .         .         .         .         .       g.207753
 CTCCTGGGCAACCAGGCCACATTCAGCCCCATTGTCACCGTGGAGCCCCGGCGCCGGAAG       c.3420
 L  L  G  N  Q  A  T  F  S  P  I  V  T  V  E  P  R  R  R  K         p.1140

          .         .         .         .         .         .       g.207813
 TTCCACCGCCCCATTGGGCTTCGGATCCCACTACCTCCTTCCTGGACCGACAACCCGAGG       c.3480
 F  H  R  P  I  G  L  R  I  P  L  P  P  S  W  T  D  N  P  R         p.1160

          .         .         .         .         .   | 30     .    g.208569
 GACAGCGGGGAGGGAGACACCACCAGCCTGCGCCTGCTTTGCAGCGTCATTG | GAGGAACA    c.3540
 D  S  G  E  G  D  T  T  S  L  R  L  L  C  S  V  I  G |   G  T      p.1180

          .         .         .         .         .         .       g.208629
 GACCAAGCCCAGTGGGAAGACATAACAGGAACCACCAAACTTGTATATGCCAACGAGTGC       c.3600
 D  Q  A  Q  W  E  D  I  T  G  T  T  K  L  V  Y  A  N  E  C         p.1200

          .         .          | 31        .         .         .    g.208917
 GCCAACTTCACCACCAATGTCTCTGCCAG | GTTTTGGCTGTCGGACTGTCCTCGGACTGCT    c.3660
 A  N  F  T  T  N  V  S  A  R  |  F  W  L  S  D  C  P  R  T  A      p.1220

          .         .         .         .         .         .       g.208977
 GAGGCTGTGAACTTTGCCACCCTGCTGTACAAAGAGCTCACTGCAGTGCCCTACATGGCC       c.3720
 E  A  V  N  F  A  T  L  L  Y  K  E  L  T  A  V  P  Y  M  A         p.1240

          .         .         .         .         .         .       g.209037
 AAATTCGTCATCTTTGCCAAGATGAATGACCCCCGAGAGGGGCGCCTGCGCTGCTACTGC       c.3780
 K  F  V  I  F  A  K  M  N  D  P  R  E  G  R  L  R  C  Y  C         p.1260

          .         .         .         .         .         .       g.209097
 ATGACAGATGATAAAGTGGACAAGACCCTGGAGCAGCATGAGAACTTCGTGGAGGTGGCC       c.3840
 M  T  D  D  K  V  D  K  T  L  E  Q  H  E  N  F  V  E  V  A         p.1280

          .         | 32         .         .         .         .    g.211205
 CGGAGCAGGGACATAGAG | GTGTTGGAAGGAATGTCCCTGTTTGCAGAACTCTCTGGGAAC    c.3900
 R  S  R  D  I  E   | V  L  E  G  M  S  L  F  A  E  L  S  G  N      p.1300

          .         .         .         .         .         .       g.211265
 CTGGTGCCTGTGAAGAAAGCTGCCCAGCAGCGGAGCTTCCACTTCCAGTCATTTCGGGAG       c.3960
 L  V  P  V  K  K  A  A  Q  Q  R  S  F  H  F  Q  S  F  R  E         p.1320

          .         .     | 33   .         .         .         .    g.211452
 AACCGTCTGGCCATGCCTGTAAAG | GTGAGGGACAGCAGTCGAGAGCCGGGAGGGTCCCTG    c.4020
 N  R  L  A  M  P  V  K   | V  R  D  S  S  R  E  P  G  G  S  L      p.1340

          .         .         .         .         .         .       g.211512
 TCGTTTCTGCGCAAGGCGATGAAGTACGAGGACACCCAGCACATTCTCTGCCACCTGAAC       c.4080
 S  F  L  R  K  A  M  K  Y  E  D  T  Q  H  I  L  C  H  L  N         p.1360

          .         .     | 34   .         .         .         .    g.213209
 ATCACCATGCCCCCCTGCGCCAAG | GGAAGTGGAGCCGAAGATAGGAGAAGGACCCCGACG    c.4140
 I  T  M  P  P  C  A  K   | G  S  G  A  E  D  R  R  R  T  P  T      p.1380

          .         .         .         .    | 35    .         .    g.213549
 CCCCTGGCCCTGCGATACAGCATTCTCAGTGAGTCCACACCAG | GTTCTCTCAGTGGGACA    c.4200
 P  L  A  L  R  Y  S  I  L  S  E  S  T  P  G |   S  L  S  G  T      p.1400

          .         .         .         .         .         | 36    g.215481
 GAGCAGGCAGAGATGAAGATGGCTGTTATCTCAGAGCACCTCGGTCTCAGCTGGGCAG | AG    c.4260
 E  Q  A  E  M  K  M  A  V  I  S  E  H  L  G  L  S  W  A  E |       p.1420

          .         .         .         .         .         .       g.215541
 TTGGCCCGGGAGCTGCAGTTCAGTGTGGAAGACATCAACAGGATCCGAGTGGAAAATCCC       c.4320
 L  A  R  E  L  Q  F  S  V  E  D  I  N  R  I  R  V  E  N  P         p.1440

          .         .         .         .         .         .       g.215601
 AACTCCCTGTTGGAGCAGAGTGTGGCCTTGCTGAACCTCTGGGTCATCCGTGAAGGCCAA       c.4380
 N  S  L  L  E  Q  S  V  A  L  L  N  L  W  V  I  R  E  G  Q         p.1460

          . | 37       .         .         .         .         .    g.217122
 AACGCAAACA | TGGAGAATCTGTACACAGCCCTGCAGAGCATTGACCGTGGCGAGATCGTG    c.4440
 N  A  N  M |   E  N  L  Y  T  A  L  Q  S  I  D  R  G  E  I  V      p.1480

          .         .         .         .         .         .       g.217182
 AACATGCTGGAGGGTTCCGGCCGACAGAGCCGCAACTTGAAGCCAGACAGGCGGCACACC       c.4500
 N  M  L  E  G  S  G  R  Q  S  R  N  L  K  P  D  R  R  H  T         p.1500

          .         .         .        | 38.         .         .    g.228873
 GACCGCGACTACTCGCTGTCACCCTCCCAGATGAATG | GTTACTCCTCACTGCAGGACGAG    c.4560
 D  R  D  Y  S  L  S  P  S  Q  M  N  G |   Y  S  S  L  Q  D  E      p.1520

          .         .         .         .         .         .       g.228933
 CTGCTGTCCCCTGCCTCCCTGGGCTGTGCACTTTCCTCTCCGCTACGTGCAGACCAGTAC       c.4620
 L  L  S  P  A  S  L  G  C  A  L  S  S  P  L  R  A  D  Q  Y         p.1540

          .         .         .         .         .         .       g.228993
 TGGAATGAGGTGGCCGTCCTAGACGCCATCCCCTTGGCGGCCACGGAGCATGACACCATG       c.4680
 W  N  E  V  A  V  L  D  A  I  P  L  A  A  T  E  H  D  T  M         p.1560

          .         .         .         .         .         .       g.229053
 CTGGAGATGTCTGACATGCAGGTGTGGTCTGCGGGCCTCACGCCTTCTCTGGTCACTGCT       c.4740
 L  E  M  S  D  M  Q  V  W  S  A  G  L  T  P  S  L  V  T  A         p.1580

          .         .         .         .         .         .       g.229113
 GAGGACTCCTCTCTGGAGTGTAGCAAGGCTGAGGACTCTGATGCCACAGGTCACGAGTGG       c.4800
 E  D  S  S  L  E  C  S  K  A  E  D  S  D  A  T  G  H  E  W         p.1600

          .         .         .         .         .         .       g.229173
 AAGTTGGAGGGGGCACTCTCAGAGGAACCGCGGGGCCCCGAGTTGGGCTCTCTGGAACTT       c.4860
 K  L  E  G  A  L  S  E  E  P  R  G  P  E  L  G  S  L  E  L         p.1620

          .         .         .         .         .         .       g.229233
 GTGGAGGACGACACAGTGGATTCAGATGCCACAAATGGCCTTATCGATTTGCTTGAACAG       c.4920
 V  E  D  D  T  V  D  S  D  A  T  N  G  L  I  D  L  L  E  Q         p.1640

          .         .         .         .         .         .       g.229293
 GAGGAAGGTCAGAGGTCAGAAGAGAAGCTGCCAGGTTCTAAGAGGCAGGATGACGCGACA       c.4980
 E  E  G  Q  R  S  E  E  K  L  P  G  S  K  R  Q  D  D  A  T         p.1660

          .         .         .         .         .         .       g.229353
 GGTGCAGGGCAGGACTCAGAGAATGAAGTGTCTCTTGTTTCAGGCCATCAGAGGGGGCAA       c.5040
 G  A  G  Q  D  S  E  N  E  V  S  L  V  S  G  H  Q  R  G  Q         p.1680

          .         .         .         .         .       | 39 .    g.233202
 GCCCGAATCACACATTCCCCCACCGTGAGTCAGGTGACGGAGAGGAGTCAGGACAG | ACTG    c.5100
 A  R  I  T  H  S  P  T  V  S  Q  V  T  E  R  S  Q  D  R  |  L      p.1700

          .         .         .         .         .         .       g.233262
 CAGGACTGGGATGCAGACGGCTCGATTGTCTCATACCTGCAAGATGCTGCACAAGGTTCC       c.5160
 Q  D  W  D  A  D  G  S  I  V  S  Y  L  Q  D  A  A  Q  G  S         p.1720

          .         .         .         .         .         .       g.233322
 TGGCAAGAGGAGGTCACGCAAGGTCCACACTCATTCCAGGGAACAAGTACCATGACTGAA       c.5220
 W  Q  E  E  V  T  Q  G  P  H  S  F  Q  G  T  S  T  M  T  E         p.1740

          .         .         .         .         .         .       g.233382
 GGGCTAGAGCCCGGTGGATCTCAGGAGTACGAGAAGGTCCTGGTGTCTGTAAGTGAGCAC       c.5280
 G  L  E  P  G  G  S  Q  E  Y  E  K  V  L  V  S  V  S  E  H         p.1760

          .         .         .         .         .         .       g.233442
 ACGTGGACAGAACAGCCCGAGGCTGAGAGCTCCCAGGCCGACAGGGACCGGAGGCAGCAA       c.5340
 T  W  T  E  Q  P  E  A  E  S  S  Q  A  D  R  D  R  R  Q  Q         p.1780

          .         .         .         .         .     | 40   .    g.238026
 GGCCAAGAAGAGCAGGTGCAGGAGGCCAAGAACACCTTCACCCAAGTGGTGCAG | GGGAAT    c.5400
 G  Q  E  E  Q  V  Q  E  A  K  N  T  F  T  Q  V  V  Q   | G  N      p.1800

          .         .         .         .         .         .       g.238086
 GAGTTTCAGAATATTCCAGGGGAGCAGGTGACAGAGGAGCAATTCACGGATGAGCAGGGC       c.5460
 E  F  Q  N  I  P  G  E  Q  V  T  E  E  Q  F  T  D  E  Q  G         p.1820

          .         | 41         .         .         .         .    g.239863
 AACATTGTCACCAAGAAG | ATCATTCGCAAGGTGGTTCGACAGATAGACTTGTCCAGCGCC    c.5520
 N  I  V  T  K  K   | I  I  R  K  V  V  R  Q  I  D  L  S  S  A      p.1840

          .         .     | 42   .         .         .         .    g.240234
 GATGCCGCCCAGGAGCACGAGGAG | GTGGAGCTGAGAGGGAGTGGCCTACAGCCGGACCTG    c.5580
 D  A  A  Q  E  H  E  E   | V  E  L  R  G  S  G  L  Q  P  D  L      p.1860

          .         .         .         .         .         .       g.240294
 ATAGAGGGCAGGAAGGGGGCGCAGATAGTGAAGCGGGCCAGCCTGAAAAGGGGGAAACAG       c.5640
 I  E  G  R  K  G  A  Q  I  V  K  R  A  S  L  K  R  G  K  Q         p.1880

                                                                g.240297
 TGA |                                                             c.5644
 X                                                               p.1880

          .         .         .       | 43 .         .         .    g.246032
 ccccgagccgctctccttggagtagcctctcgggag | gatcacacctcgacacccaacccc    c.*60

          .         .         .         .         .         .       g.246092
 tgaaccccacacactctgccatgcacacaggaggagagctggacctgagggccaccgcag       c.*120

          .         .         .         .         .         .       g.246152
 cggtgcacacattcctctgggctgacggcatgacctctgtaagggactcctgctagtccc       c.*180

          .         .         .         .         .         .       g.246212
 ctcttggcatgaatgactgactgtagacgcatgacctccaggcttcaatcctgcctcttg       c.*240

          .         .         .         .         .         .       g.246272
 caatgacagctgatctgtcggaaccaggacacaaaagcagcaagaagcggggagagagag       c.*300

          .         .         .         .         .         .       g.246332
 ggatagaaaacaagcgcaggagagcctgcgaacgcaaaagtgaatgagggctttttgtgg       c.*360

          .         .         .         .         .         .       g.246392
 ctggggatgggttttggttttggggttttttttttaaattgttttgacttcgtacagggt       c.*420

          .         .         .         .         .         .       g.246452
 actttttcccaacctcatctgtcagaaatccatgtgggcttcctggaaagaaaaaaaaaa       c.*480

          .         .         .         .         .         .       g.246512
 aaaagaaaactaggcatgaaatcagtttaacaccttaatcttaagccatgtcctcatctg       c.*540

          .         .         .         .         .         .       g.246572
 cccaccctccccaacccacatacctccattccacttgtgacaccccctcgactccctggt       c.*600

          .         .         .         .         .         .       g.246632
 gacgctcctcccagatcgctctacatgacattcaggacacacacacacacacacacacac       c.*660

          .         .         .         .         .         .       g.246692
 cactcgcctccactgaatctacacacagattttactgtgacttctgaagctgtatagact       c.*720

          .         .         .         .         .         .       g.246752
 ctgctgtggataaattggaattttttatgttgtctctctctctgccaatttcaatacgaa       c.*780

          .         .         .         .         .         .       g.246812
 tcatcttccaatggaaaatcattaccttgaagagtgcattcggggttccttgtgttaggg       c.*840

          .         .         .         .         .         .       g.246872
 acttaagaatctgaggcgaggacccccaggcttacctgtaggactcaaagggagccagga       c.*900

          .         .         .         .         .         .       g.246932
 ccccatctgaaagggtctcctctctcagttgggggacaggccggtggctgacccaggatt       c.*960

          .         .         .         .         .         .       g.246992
 gcaccagcatgtccatagagaagaggttttctatgtcttcaagcactatatcatagtccg       c.*1020

          .         .         .         .         .         .       g.247052
 tgttcaaagtgtaaactgtacagtaatcagccttgtgtatatgaaaaacaataaatacta       c.*1080

          .         .         .         .         .         .       g.247112
 tgcaaaccaatagaaacatttagcagtacgtacagagcctgacagcgcagctcctgagga       c.*1140

          .         .         .         .         .         .       g.247172
 cttctgcggctgcaggagaaggagctgtggcctgtctttcagtgaaagaggaaggaaagg       c.*1200

          .         .         .         .         .         .       g.247232
 agtagggctagtgaatgtatctgccaggtcttagaagtcaggaccacccagggtctccca       c.*1260

          .         .         .         .         .         .       g.247292
 gagtgaacttggtgctctaagtccaggcagcctgcaggctggggaccctgggtgcaggtg       c.*1320

          .         .         .         .         .         .       g.247352
 ccaggctcgaggctgttccctgtcctgcctcagtgcctcccctctgcccagcccctgtgg       c.*1380

          .         .         .         .         .         .       g.247412
 cctcttggagaggcgagccagggggctccccggaccgcatggccggtgagagtagagtcg       c.*1440

          .         .         .         .         .         .       g.247472
 gaggcggagagcctggacgcccagaggccggggccaggctctgggtcaaggcaggaagga       c.*1500

          .         .         .         .         .         .       g.247532
 gacagacagctggcagttcctcgcctcggtgccatcagggaggagccttaagttccacta       c.*1560

          .         .         .         .         .         .       g.247592
 gagcctccggcccagggaggccagaatcagcacaatcccggccccgccctcgcggcgggc       c.*1620

          .         .         .         .         .         .       g.247652
 gcccccagggccaggagagagagacagggctggctcctctcgcccctggagccgcggtgt       c.*1680

          .         .         .         .         .         .       g.247712
 ggacggcccggccccgtccgccccgccgctctgcgggagtgtcctcgggacacacttaaa       c.*1740

          .         .         .         .         .         .       g.247772
 ccttccaagtagcacagaagccccctccacgtcagaggccccctggccgcggggcctgtg       c.*1800

          .         .         .         .         .         .       g.247832
 agcggagaggggccctgcttcccacacaaatccgccccggtgcacccccggccaggcagg       c.*1860

          .         .         .         .         .         .       g.247892
 ccccggggcggcctaggcgccttgtcggccgggggtggggctgcttttgcttcctttaga       c.*1920

          .         .         .         .         .         .       g.247952
 ggggcgggcagggagaggaagctctagctccgggcctgagtttccccgaggctgcgtcgg       c.*1980

          .         .         .         .         .         .       g.248012
 aggagctgcagggcgagcccggacggctgccgtctccgccagaggccaccccggcccggc       c.*2040

          .         .         .         .         .         .       g.248072
 ctccagggcgcagaggcgcccccctccatcctcccccatcccgggggccacggcaggggg       c.*2100

          .         .         .         .         .         .       g.248132
 gccgcacagcgcggctgggaccgattcggtgacggcccaaggaagctgggctcagggctc       c.*2160

          .         .         .         .         .         .       g.248192
 gcctctcccgcctcgatcctgcaccttcctctcccaggtcgctgctgcagccaacccagt       c.*2220

          .         .         .         .         .         .       g.248252
 agcccccttagcgcccccgcggaccccgcagctccagactccgctttggcacctctgctc       c.*2280

          .         .         .         .         .         .       g.248312
 cggctggcatggctgcacgctccggctgctagtaggagccgttaggggaggagtttgggg       c.*2340

          .         .         .         .         .         .       g.248372
 tctccacacgatgcctagagaatgctgcagtctgcacattagacgctttttagaagtttt       c.*2400

          .         .         .         .         .         .       g.248432
 gaaattaccttgatttttttaattgttatgaaaatggatcttttcttgactctcccacat       c.*2460

          .         .         .         .         .         .       g.248492
 gctctgttatgggagagaatcccctaccctactctgatgtatagaccattctcccttcac       c.*2520

          .         .         .         .                           g.248537
 cagccgaaccaatgtcaaaattaataaagaaatggactaatggca                      c.*2565

 (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 1, erythrocytic 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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