calmodulin regulated spectrin-associated protein 1 (CAMSAP1) - coding DNA reference sequence

(used for variant description)

(last modified November 27, 2022)


This file was created to facilitate the description of sequence variants on transcript NM_015447.3 in the CAMSAP1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000009.11, covering CAMSAP1 transcript NM_015447.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
          .         .         .         .         .         .       g.60
 ATGGTGGACGCGAGCGGCCGCGCCGCCGCCGAGGGCTGGAGGAAGATGGAGGCCCCGCCG       c.60
 M  V  D  A  S  G  R  A  A  A  E  G  W  R  K  M  E  A  P  P         p.20

          .         .         .         .         .         .       g.120
 GACGGCGCCGCCGACCTCGTGCCCCTGGACCGCTACGACGCGGCGCGCGCCAAGATCGCC       c.120
 D  G  A  A  D  L  V  P  L  D  R  Y  D  A  A  R  A  K  I  A         p.40

          .         .         .         . | 02       .         .    g.24101
 GCCAACCTGCAGTGGATCTGCGCCAAGGCCTACGGCCGAG | ATAACATCCCTGAGGACCTC    c.180
 A  N  L  Q  W  I  C  A  K  A  Y  G  R  D |   N  I  P  E  D  L      p.60

          .         .         .         .         .         .       g.24161
 AGAGACCCTTTCTACGTTGACCAGTATGAGCAGGAGCACATTAAGCCGCCTGTTATCAAG       c.240
 R  D  P  F  Y  V  D  Q  Y  E  Q  E  H  I  K  P  P  V  I  K         p.80

          .         .         .         .         .         .       g.24221
 CTTCTCCTGTCCAGCGAGCTGTACTGCCGTGTCTGCAGCCTCATCCTGAAAGGGGACCAG       c.300
 L  L  L  S  S  E  L  Y  C  R  V  C  S  L  I  L  K  G  D  Q         p.100

          .         .         .         .         .         .       g.24281
 GTGGCCGCCTTACAGGGACACCAGTCTGTCATCCAGGCCCTGTCCCGGAAAGGGATCTAT       c.360
 V  A  A  L  Q  G  H  Q  S  V  I  Q  A  L  S  R  K  G  I  Y         p.120

          .         .         .         .         .         .       g.24341
 GTGATGGAGAGTGATGACACCCCCGTGACAGAGTCCGACCTCAGTCGCGCACCCATAAAA       c.420
 V  M  E  S  D  D  T  P  V  T  E  S  D  L  S  R  A  P  I  K         p.140

     | 03    .         .         .         .         .         .    g.25422
 ATG | AGTGCCCACATGGCAATGGTGGATGCCCTGATGATGGCCTACACTGTGGAGATGATC    c.480
 M   | S  A  H  M  A  M  V  D  A  L  M  M  A  Y  T  V  E  M  I      p.160

          .         .         .         .         .         .       g.25482
 AGCATCGAGAAGGTGGTGGCCAGTGTCAAGCGCTTCTCAACGTTCAGTGCCTCGAAAGAA       c.540
 S  I  E  K  V  V  A  S  V  K  R  F  S  T  F  S  A  S  K  E         p.180

          .         .         .         .      | 04  .         .    g.40638
 CTTCCGTACGACCTCGAGGATGCCATGGTGTTCTGGATCAACAAG | GTAAATCTTAAAATG    c.600
 L  P  Y  D  L  E  D  A  M  V  F  W  I  N  K   | V  N  L  K  M      p.200

          .         .         .         .         .         .       g.40698
 AGAGAGATAACAGAGAAAGAAGTTAAATTAAAACAACAGTTATTGGAAAGTCCAGCTCAT       c.660
 R  E  I  T  E  K  E  V  K  L  K  Q  Q  L  L  E  S  P  A  H         p.220

        | 05 .         .         .         .         .         .    g.44605
 CAAAAG | GTCCGCTATCGACGAGAGCACCTTTCTGCTAGGCAGTCACCCTACTTCCCGTTG    c.720
 Q  K   | V  R  Y  R  R  E  H  L  S  A  R  Q  S  P  Y  F  P  L      p.240

          .         .         .         .         .         .       g.44665
 TTGGAGGATTTGATGAGAGACGGCAGTGATGGTGCTGCTCTCTTAGCTGTGATTCACTAT       c.780
 L  E  D  L  M  R  D  G  S  D  G  A  A  L  L  A  V  I  H  Y         p.260

          .         .         | 06         .         .         .    g.56730
 TATTGCCCAGAGCAGATGAAACTGGATG | ATATATGCTTAAAGGAGGTAACGTCGATGGCC    c.840
 Y  C  P  E  Q  M  K  L  D  D |   I  C  L  K  E  V  T  S  M  A      p.280

          .         .         .         .         .         .       g.56790
 GACAGTCTGTATAATATTCGGCTTCTGAGAGAATTCTCCAATGAATATCTTAATAAATGT       c.900
 D  S  L  Y  N  I  R  L  L  R  E  F  S  N  E  Y  L  N  K  C         p.300

          .         .         .         .         | 07         .    g.56938
 TTTTATCTCACCTTGGAAGATATGCTGTATGCGCCATTAGTGTTGAAG | CCGAATGTTATG    c.960
 F  Y  L  T  L  E  D  M  L  Y  A  P  L  V  L  K   | P  N  V  M      p.320

          .         .         .         .         .         .       g.56998
 GTTTTTATTGCGGAGCTTTTTTGGTGGTTCGAGAATGTCAAGCCAGATTTTGTTCAGCCC       c.1020
 V  F  I  A  E  L  F  W  W  F  E  N  V  K  P  D  F  V  Q  P         p.340

          .         .      | 08  .         .         .         .    g.79610
 AGGGATGTTCAGGAGCTGAAAGACG | CGAAAACAGTGTTACACCAGAAGAGCAGCCGGCCT    c.1080
 R  D  V  Q  E  L  K  D  A |   K  T  V  L  H  Q  K  S  S  R  P      p.360

          .         .         .         .         .         .       g.79670
 CCTGTACCGATCTCCAACGCGACCAAACGCAGTTTCCTAGGCAGCCCTGCTGCAGGGACC       c.1140
 P  V  P  I  S  N  A  T  K  R  S  F  L  G  S  P  A  A  G  T         p.380

          .         .         .         .         .         .       g.79730
 CTGGCTGAGCTGCAGCCCCCCGTGCAGCTGCCGGCGGAAGGCTGTCACAGGCACTACCTG       c.1200
 L  A  E  L  Q  P  P  V  Q  L  P  A  E  G  C  H  R  H  Y  L         p.400

          .         .    | 09    .         .         .         .    g.82316
 CACCCGGAAGAACCTGAATACCT | CGGGAAAGGAACTGCTGCCTTCAGCCCATCCCATCCT    c.1260
 H  P  E  E  P  E  Y  L  |  G  K  G  T  A  A  F  S  P  S  H  P      p.420

          .         .         .         .         .      | 10  .    g.83130
 TTATTGCCACTGAGACAGAAACAGCAGAAATCCATACAGGGAGAGGACATCCCTG | ATCAG    c.1320
 L  L  P  L  R  Q  K  Q  Q  K  S  I  Q  G  E  D  I  P  D |   Q      p.440

          .         .         .         .         .         .       g.83190
 CGACATCGATCGAATTCTTTGACCCGAGTTGATGGTCAGCCTCGAGGAGCAGCAATAGCC       c.1380
 R  H  R  S  N  S  L  T  R  V  D  G  Q  P  R  G  A  A  I  A         p.460

          .         . | 11       .         .         .         .    g.83939
 TGGCCAGAAAAAAAAACCAG | GCCTGCGTCCCAGCCAACACCTTTTGCTCTACATCACGCT    c.1440
 W  P  E  K  K  T  R  |  P  A  S  Q  P  T  P  F  A  L  H  H  A      p.480

          .         .         .         .         .         .       g.83999
 GCGAGTTGTGAAGTGGATCCCAGCTCTGGCGACAGCATCAGCTTGGCCCGCTCCATCAGC       c.1500
 A  S  C  E  V  D  P  S  S  G  D  S  I  S  L  A  R  S  I  S         p.500

          .         .         .         .         .         .       g.84059
 AAAGACAGTTTGGCATCCAACATTGTTAATCTGACCCCACAGAACCAGCCACACCCCACG       c.1560
 K  D  S  L  A  S  N  I  V  N  L  T  P  Q  N  Q  P  H  P  T         p.520

          .         .         .         .         .         .       g.84119
 GCCACGAAGAGCCACGGGAAGAGCCTCCTGAGCAATGTCAGTATTGAGGATGAGGAAGAG       c.1620
 A  T  K  S  H  G  K  S  L  L  S  N  V  S  I  E  D  E  E  E         p.540

          .         .         .         .         .         .       g.84179
 GAGCTTGTGGCTATTGTTAGAGCAGACGTGGTTCCCCAGCAGGCTGACCCGGAGTTCCCC       c.1680
 E  L  V  A  I  V  R  A  D  V  V  P  Q  Q  A  D  P  E  F  P         p.560

          .         .         .         .         .         .       g.84239
 AGGGCCTCACCCCGGGCCTTAGGCCTTACAGCAAATGCCCGGTCTCCCCAAGGACAGCTG       c.1740
 R  A  S  P  R  A  L  G  L  T  A  N  A  R  S  P  Q  G  Q  L         p.580

          .         .         .         .         .         .       g.84299
 GACACCTCGGAAAGTAAGCCTGACAGTTTTTTCTTGGAGCCTTTGATGCCAGCAGTTCTT       c.1800
 D  T  S  E  S  K  P  D  S  F  F  L  E  P  L  M  P  A  V  L         p.600

          .         .         .         .         .         .       g.84359
 AAGCCAGCGAAAGAGAAGCAGGTGATCACCAAGGAGGATGAACGGGGGGAAGGGAGACCG       c.1860
 K  P  A  K  E  K  Q  V  I  T  K  E  D  E  R  G  E  G  R  P         p.620

          .         .         .         .         .         .       g.84419
 AGGAGCATCGTGTCTAGGAGGCCCAGCGAGGGCCCCCAGCCTTTGGTACGAAGGAAAATG       c.1920
 R  S  I  V  S  R  R  P  S  E  G  P  Q  P  L  V  R  R  K  M         p.640

          .         .         .         .         .         .       g.84479
 ACTGGCAGTCGCGACTTGAATAGGACTTTTACCCCGATTCCATGCTCAGAATTCCCCATG       c.1980
 T  G  S  R  D  L  N  R  T  F  T  P  I  P  C  S  E  F  P  M         p.660

          .         .         .         .         .         .       g.84539
 GGCATCGACCCCACCGAGACAGGACCACTGTCAGTGGAAACCGCAGGAGAGGTCTGTGGT       c.2040
 G  I  D  P  T  E  T  G  P  L  S  V  E  T  A  G  E  V  C  G         p.680

          .         .         .         .         .         .       g.84599
 GGGCCTCTGGCCCTTGGCGGATTCGATCCGTTCCCCCAGGGACCATCCACGGATGGCTTC       c.2100
 G  P  L  A  L  G  G  F  D  P  F  P  Q  G  P  S  T  D  G  F         p.700

          .         .         .         .         .         .       g.84659
 TTCCTTCATGTAGGCAGGGCCGATGAAGACACCGAGGGAAGGTTATATGTTAGTTGTTCA       c.2160
 F  L  H  V  G  R  A  D  E  D  T  E  G  R  L  Y  V  S  C  S         p.720

          .         .         .         .         .         .       g.84719
 AAAAGCCCCAACTCCCACGATTCAGAGCCGTGGACTCTCCTCAGGCAGGATTCTGACTCG       c.2220
 K  S  P  N  S  H  D  S  E  P  W  T  L  L  R  Q  D  S  D  S         p.740

          .         .         .         .         .         .       g.84779
 GATGTGGTGGACATAGAGGAAGCCGAGCACGATTTCATGGGTGAGGCCCATCCTGTGGTT       c.2280
 D  V  V  D  I  E  E  A  E  H  D  F  M  G  E  A  H  P  V  V         p.760

          .         .         .         .         .         .       g.84839
 TTCAGCAGATACATTGGGGAGGAAGAGTCGGCCAAACTGCAGGAGGACATGAAGGTGAAG       c.2340
 F  S  R  Y  I  G  E  E  E  S  A  K  L  Q  E  D  M  K  V  K         p.780

          .         .         .         .         .         .       g.84899
 GAACATGAAGACAAAGATGACGCCAGCGGCCGCTCGAGCCCCTGCCTGAGCACAGCCTCT       c.2400
 E  H  E  D  K  D  D  A  S  G  R  S  S  P  C  L  S  T  A  S         p.800

          .         .         .         .         .         .       g.84959
 CAGATGAGCAGTGTCTCCATGGCGAGTGGGAGCGTGAAGATGACCAGCTTTGCGGAGAGG       c.2460
 Q  M  S  S  V  S  M  A  S  G  S  V  K  M  T  S  F  A  E  R         p.820

          .         .         .         .         .         .       g.85019
 AAGCTCCAGAGACTCAACAGCTGTGAGACCAAGTCCAGCACCAGCAGCTCCCAGAAGACC       c.2520
 K  L  Q  R  L  N  S  C  E  T  K  S  S  T  S  S  S  Q  K  T         p.840

          .         .         .         .         .         .       g.85079
 ACGCCAGATGCGTCTGAGAGCTGCCCAGCCCCTCTGACGACGTGGAGGCAGAAGAGGGAG       c.2580
 T  P  D  A  S  E  S  C  P  A  P  L  T  T  W  R  Q  K  R  E         p.860

          .         .         .         .         .         .       g.85139
 CAGAGTCCGAGCCAGCATGGCAAGGATCCCGCCAGCCTCCTGGCATCTGAGCTGGTACAG       c.2640
 Q  S  P  S  Q  H  G  K  D  P  A  S  L  L  A  S  E  L  V  Q         p.880

          .         .         .         .         .         .       g.85199
 CTGCACATGCAGCTGGAGGAGAAGCGCAGGGCCATCGAGGCCCAGAAGAAGAAGATGGAG       c.2700
 L  H  M  Q  L  E  E  K  R  R  A  I  E  A  Q  K  K  K  M  E         p.900

          .         .         .         .         .         .       g.85259
 GCGCTGTCGGCAAGGCAGCGCCTGAAGCTCGGCAAGGCTGCATTCCTGCATGTGGTGAAG       c.2760
 A  L  S  A  R  Q  R  L  K  L  G  K  A  A  F  L  H  V  V  K         p.920

          .         .         .         .         .         .       g.85319
 AAGGGCAAGGCCGAGGCTGCCCCACCCCTCAGGCCGGAGCACTTTGCAAAGGAGTACTCT       c.2820
 K  G  K  A  E  A  A  P  P  L  R  P  E  H  F  A  K  E  Y  S         p.940

          .         .         .         .         .         .       g.85379
 CAGCACAACGGGGAGGACTGTGGGGACGCTGTTTCCAAAACCGAAGACTTTCTCGTGAAG       c.2880
 Q  H  N  G  E  D  C  G  D  A  V  S  K  T  E  D  F  L  V  K         p.960

          .         .         .         .         .         .       g.85439
 GAGGAGCAGAGAGAGGAGCTCCTTCACGAGCCACAGGATGTGGACAAAGAGAGCCTGGCC       c.2940
 E  E  Q  R  E  E  L  L  H  E  P  Q  D  V  D  K  E  S  L  A         p.980

          .         .         .         .         .         .       g.85499
 TTTGCTCAGCAACATAAAGCAAAAGACCCTGTGGCTCTGCACGAGCTGGAGAGAAATAAG       c.3000
 F  A  Q  Q  H  K  A  K  D  P  V  A  L  H  E  L  E  R  N  K         p.1000

          .         .         .         .         .         .       g.85559
 GTGATCTCCGCTGCCCTCCTGGAGGACACTGTTGGGGAGGTTGTCGACGTGAATGAATGT       c.3060
 V  I  S  A  A  L  L  E  D  T  V  G  E  V  V  D  V  N  E  C         p.1020

          .         .         .         .         .         .       g.85619
 GACCTTTCCATCGAGAAGCTTAACGAAACCATCAGTACGCTGCAGCAGGCCATCCTGAAA       c.3120
 D  L  S  I  E  K  L  N  E  T  I  S  T  L  Q  Q  A  I  L  K         p.1040

          .         .         .         .         .         .       g.85679
 ATCTCTCAGCAGCAAGAGCAGCTTCTGATGAAGTCCCCCACAGTCCCAGTGCCAGGCTCT       c.3180
 I  S  Q  Q  Q  E  Q  L  L  M  K  S  P  T  V  P  V  P  G  S         p.1060

          .         .         .         .         .         .       g.85739
 AAGAATAACTCGCAGGACCACAAAGTGAAGGCACCAGTCCACTTCGTGGAGCCACTCTCT       c.3240
 K  N  N  S  Q  D  H  K  V  K  A  P  V  H  F  V  E  P  L  S         p.1080

          .         .         .         .         .         .       g.85799
 CCCACGGGCGTGGCTGGCCACCGCAAAGCCCCCCGGCTGGGTCAAGGCCGGAATTCCCGT       c.3300
 P  T  G  V  A  G  H  R  K  A  P  R  L  G  Q  G  R  N  S  R         p.1100

          .         .         .         .         .         .       g.85859
 TCCGGAAGGCCGGCGGAGCTGAAGGTCCCAAAAGACAGGCCACAGGGCTCCTCCCGAAGT       c.3360
 S  G  R  P  A  E  L  K  V  P  K  D  R  P  Q  G  S  S  R  S         p.1120

          .         .         .         .         .         .       g.85919
 AAAACCCCAACGCCCAGTGTAGAGACGCTCCCGCACTTGAGACCCTTCCCTGCCAGCAGC       c.3420
 K  T  P  T  P  S  V  E  T  L  P  H  L  R  P  F  P  A  S  S         p.1140

          .         .         .         .         .         .       g.85979
 CACCCTCGGACGCCCACGGACCCTGGCCTGGACAGTGCCCTGGAGCCCAGTGGTGACCCA       c.3480
 H  P  R  T  P  T  D  P  G  L  D  S  A  L  E  P  S  G  D  P         p.1160

          .         .         .         .         .         .       g.86039
 CATGGGAAGTGTCTCTTCGACAGTTACAGGCTCCATGATGAAAGCAATCAGCGGACACTT       c.3540
 H  G  K  C  L  F  D  S  Y  R  L  H  D  E  S  N  Q  R  T  L         p.1180

          .         .         .         .         .         .       g.86099
 ACTCTGTCCTCTTCCAAAGATGCCAACATTCTTTCGGAGCAGATGAGCCTCAAAGAAGTT       c.3600
 T  L  S  S  S  K  D  A  N  I  L  S  E  Q  M  S  L  K  E  V         p.1200

          .         .         .         .         .         .       g.86159
 CTGGATGCGAGTGTGAAGGAGGTGGGGTCCAGCTCCTCAGATGTCTCGGGAAAAGAGAGC       c.3660
 L  D  A  S  V  K  E  V  G  S  S  S  S  D  V  S  G  K  E  S         p.1220

          .         .         .         .         .         .       g.86219
 GTCCCCGTGGAGGAGCCTCTGAGGAGCAGGGCCAGCCTCATTGAAGTGGACCTCTCCGAC       c.3720
 V  P  V  E  E  P  L  R  S  R  A  S  L  I  E  V  D  L  S  D         p.1240

          .         .         .         .         .         .       g.86279
 CTGAAGGCCCCCGACGAGGATGGGGAGCTGGTAAGCCTCGATGGCTCGGCGGACCTTGTC       c.3780
 L  K  A  P  D  E  D  G  E  L  V  S  L  D  G  S  A  D  L  V         p.1260

          .         .         .         .   | 12     .         .    g.88031
 AGCGAAGGCGACCAGAAGCCGGGGGTCGGCTTCTTCTTCAAG | GATGAACAGAAAGCGGAA    c.3840
 S  E  G  D  Q  K  P  G  V  G  F  F  F  K   | D  E  Q  K  A  E      p.1280

          .         .         .         .         .         .       g.88091
 GATGAGCTCGCCAAGAAGCGGGCGGCCTTCCTCCTGAAGCAGCAGCGCAAGGCCGAGGAG       c.3900
 D  E  L  A  K  K  R  A  A  F  L  L  K  Q  Q  R  K  A  E  E         p.1300

          .         .         .         .         .          | 13    g.88544
 GCCCGCGTGCGCAAGCAGCAGCTGGAAGCGGAGGTGGAGCTCAAGCGTGACGAAGCCCG | G    c.3960
 A  R  V  R  K  Q  Q  L  E  A  E  V  E  L  K  R  D  E  A  R  |      p.1320

          .         .         .         .         .         .       g.88604
 CGCAAAGCTGAGGAAGACCGGGTGCGGAAGGAGGAGGAGAAGGCGCGGCGCGAGCTCATC       c.4020
 R  K  A  E  E  D  R  V  R  K  E  E  E  K  A  R  R  E  L  I         p.1340

          .         .         .         .         .         .       g.88664
 AAGCAGGAGTACCTGCGGAGGAAGCAGCAGCAGATCCTAGAGGAGCAGGGGCTCGGCAAG       c.4080
 K  Q  E  Y  L  R  R  K  Q  Q  Q  I  L  E  E  Q  G  L  G  K         p.1360

          .         .         .         .         .         .       g.88724
 CCCAAGTCAAAGCCGAAGAAGCCGCGGCCGAAGTCGGTGCACCGGGAAGAGTCGTGCAGC       c.4140
 P  K  S  K  P  K  K  P  R  P  K  S  V  H  R  E  E  S  C  S         p.1380

          .         .         | 14         .         .         .    g.89112
 GACTCCGGCACCAAGTGCTCCTCCACCC | CTGATAACTTGAGCCGGACTCAGTCAGGCTCC    c.4200
 D  S  G  T  K  C  S  S  T  P |   D  N  L  S  R  T  Q  S  G  S      p.1400

          .         .         .         .         .         .       g.89172
 AGCCTGTCCTTGGCCTCTGCGGCGACGACAGAACCCGAGAGCGTTCATTCCGGGGGCACA       c.4260
 S  L  S  L  A  S  A  A  T  T  E  P  E  S  V  H  S  G  G  T         p.1420

          .  | 15      .         .         .         .         .    g.91203
 CCCTCTCAGCG | AGTGGAATCGATGGAAGCCCTGCCCATACTGAGCCGTAACCCAAGCAGG    c.4320
 P  S  Q  R  |  V  E  S  M  E  A  L  P  I  L  S  R  N  P  S  R      p.1440

          .         .         .         .         .         .       g.91263
 AGCACAGACCGAGACTGGGAGACCGCGTCGGCGGCATCTTCCCTGGCCTCAGTGGCCGAG       c.4380
 S  T  D  R  D  W  E  T  A  S  A  A  S  S  L  A  S  V  A  E         p.1460

         | 16.         .         .         .         .         .    g.91997
 TACACAG | GTCCCAAGCTCTTTAAGGAGCCCAGTAGTAAATCAAACAAGCCGATTATTCAC    c.4440
 Y  T  G |   P  K  L  F  K  E  P  S  S  K  S  N  K  P  I  I  H      p.1480

          .         .         .         .         .         .       g.92057
 AATGCCATATCCCATTGCTGCCTGGCTGGAAAAGTGAACGAACCCCACAAGAATTCCATA       c.4500
 N  A  I  S  H  C  C  L  A  G  K  V  N  E  P  H  K  N  S  I         p.1500

        | 17 .         .         .         .         .         .    g.95602
 TTGGAG | GAGCTGGAGAAGTGTGATGCCAATCACTACATCATACTGTTTCGTGATGCTGGC    c.4560
 L  E   | E  L  E  K  C  D  A  N  H  Y  I  I  L  F  R  D  A  G      p.1520

          .         .         .         .         .         .       g.95662
 TGCCAGTTCAGGGCGCTTTACTGCTACTATCCTGATACTGAGGAAATCTACAAACTCACT       c.4620
 C  Q  F  R  A  L  Y  C  Y  Y  P  D  T  E  E  I  Y  K  L  T         p.1540

          .         .         .         .         .         .       g.95722
 GGCACGGGGCCAAAGAACATCACCAAGAAAATGATCGACAAACTGTATAAATACAGCTCA       c.4680
 G  T  G  P  K  N  I  T  K  K  M  I  D  K  L  Y  K  Y  S  S         p.1560

          .         .         .         .         .         .       g.95782
 GACCGAAAACAGTTTAACTTGATCCCAGCCAAAACCATGTCTGTCAGTGTGGACGCACTC       c.4740
 D  R  K  Q  F  N  L  I  P  A  K  T  M  S  V  S  V  D  A  L         p.1580

          .         .         .         .         .         .       g.95842
 ACAATCCACAACCACCTGTGGCAGCCCAAGCGGCCTGCAGTGCCAAAGAAGGCCCAGACT       c.4800
 T  I  H  N  H  L  W  Q  P  K  R  P  A  V  P  K  K  A  Q  T         p.1600

                                                                    g.95851
 CGTAAATGA                                                          c.4809
 R  K  X                                                            p.1602

          .         .         .         .         .         .       g.95911
 ccccggtgcagctggcgtccaaagggtgacccagactcgtaaatgatgcccttgtggctg       c.*60

          .         .         .         .         .         .       g.95971
 gcatccagagggtgccacggggtccttatttattgttttcatctatttgggtacgaagtg       c.*120

          .         .         .         .         .         .       g.96031
 tgcaaagtcacagaccttttgcaaagaggtttctagacagcagaagaaaacccctctctc       c.*180

          .         .         .         .         .         .       g.96091
 agcgctcatctcacgcagaggatgccaggcagggtgaggatgggggagtagatgccgctt       c.*240

          .         .         .         .         .         .       g.96151
 ttgcagtggctcgcactgctgtggccactgctgaccactgaggctcccagcggagggtgt       c.*300

          .         .         .         .         .         .       g.96211
 tcacagccaggtcccgggccacggagctcccttacttgaagttctccttcagcatagatt       c.*360

          .         .         .         .         .         .       g.96271
 agacgtgatccactttgctttcttgcttctcacctcgcccccttgcacattgcctgacac       c.*420

          .         .         .         .         .         .       g.96331
 cctcatattggccagctgtaatctcgtgactatgggactgaggctcaatcttggcttggg       c.*480

          .         .         .         .         .         .       g.96391
 gtgtttgaatgtctatagcaaaggaattcataatgggaaatctttttcatttgagaaatt       c.*540

          .         .         .         .         .         .       g.96451
 gtatgatatttattggttgtgtctactgccaacatttatatccaattctaagatttctga       c.*600

          .         .         .         .         .         .       g.96511
 aaaaaaattcttatcccttgctgctcagaaaaagtttacggaaaacaccagttcactaaa       c.*660

          .         .         .         .         .         .       g.96571
 agcaccgaaatctgcaaagcctgtcttccgctagaacaacgtctacaaatgtgaagatga       c.*720

          .         .         .         .         .         .       g.96631
 tgacttctggcacgcggtcatgagggtggggaatggcactaggagctgatgtttgcctca       c.*780

          .         .         .         .         .         .       g.96691
 tttaaagtaggcaagccgagccaactgcagccatcattcattaagttttgggtagtgctc       c.*840

          .         .         .         .         .         .       g.96751
 taatggtttgttcactttaataaagacagattttggtaaagtagaatatttttcattctg       c.*900

          .         .         .         .         .         .       g.96811
 agcatgtttgtcccaaaaggtgatgcacttaagctgacagtcccttcagtggttttgtta       c.*960

          .         .         .         .         .         .       g.96871
 ggtcacggcttgtcctgtctggattctgcatctggaagcgctgcatgctctcagaggagc       c.*1020

          .         .         .         .         .         .       g.96931
 gtgccgtttcccctgtagatggatacttttgttttgttgcctatttaaaaacaattaagt       c.*1080

          .         .         .         .         .         .       g.96991
 ggttatttgcagttatttcagaactccaagtaagtggatggctttgggttctttctgcct       c.*1140

          .         .         .         .         .         .       g.97051
 tggtcccaatggtgttgatgcttctgtggagcgcggacattcccaggagcaggtgcgtgc       c.*1200

          .         .         .         .         .         .       g.97111
 cagccatggctgccagacactgctgcaactgaccagctgccggaagattctggagccact       c.*1260

          .         .         .         .         .         .       g.97171
 aacattagttttgcacatattttcttgggagtgttacttgaatctatctcaaactgcaga       c.*1320

          .         .         .         .         .         .       g.97231
 aaaaatcaaaagatcaataattgggagaaaaagagacaaatttaactgttacataatttt       c.*1380

          .         .         .         .         .         .       g.97291
 agatagacaaaaaacatgagtgagtcgtgtacataaggagggaacatggtacagaaggct       c.*1440

          .         .         .         .         .         .       g.97351
 agaaggaattataggtcttattcccctttcctcagtcctttgaagagaagtacagtctct       c.*1500

          .         .         .         .         .         .       g.97411
 tgcgattttgtatatatcgtgttcgacacagccgctctctgtcctgtaaatagggaacta       c.*1560

          .         .         .         .         .         .       g.97471
 aaggctgtatgatttctcaagtgctgagttacacagtcctgagtgagctttctgttacca       c.*1620

          .         .         .         .         .         .       g.97531
 tactttcacacgtgggctttatttctcactgtatgtttgatatgatattactgtatttat       c.*1680

          .         .         .         .         .         .       g.97591
 tttaagaaagcactaagatgtaataaagtgatgaactaatttgctttacattgaatcgta       c.*1740

          .         .         .         .         .         .       g.97651
 tgtgtgaggttgctgtggctcatttcgctgaccaggcgacaccaactccttgctttatag       c.*1800

          .         .         .         .         .         .       g.97711
 gagtttcacattgttctttaccatggccctatcgaagtcagtggaattggattcttttta       c.*1860

          .         .         .         .         .         .       g.97771
 atgaagagctagaaaatatctggcatagagctggaaaattgcattcccatgggacgtctg       c.*1920

          .         .         .         .         .         .       g.97831
 aatcaattctggattttctccatggaatgagtcagtgtgtggaacatcctgaaacttgtc       c.*1980

          .         .         .         .         .         .       g.97891
 cttaagcgtgtagttttcactgttcgttgcgagtaagcactaatgtggcatggacattcc       c.*2040

          .         .         .         .         .         .       g.97951
 tgatgtcccaagtccccaggccagtgttcgcctaatgattgacagaagcgtccctgcgtt       c.*2100

          .         .         .         .         .         .       g.98011
 cttcatgcttggacacagcaacccttttaattagtcttgaaaagtttcagacacaggatt       c.*2160

          .         .         .         .         .         .       g.98071
 aattttcgtggtggtgcttttgggcctttctggcttgggtggtggtaaagtcatgatttt       c.*2220

          .         .         .         .         .         .       g.98131
 gcagttgataacactgacttataactctgtttatcaatgtctcctatattcaaagcccct       c.*2280

          .         .         .         .         .         .       g.98191
 gcagtggtatttgtgtctcgttgcaaatttctttcagcggaaagcttgcacaactttcgt       c.*2340

          .         .         .         .         .         .       g.98251
 tgtgtctcagaattctaaccttgttatttaagacaagctgctctacccatttaggatata       c.*2400

          .         .         .         .         .         .       g.98311
 actttgtaaagaaagtgtaaaccaaatgattcaatgtatgatgaagtttatgtgtaaatc       c.*2460

          .         .         .         .         .         .       g.98371
 cttggtaatgctagaattctgggagcccagaagggttgaaagagaaatgaaacttgcgtg       c.*2520

          .         .         .         .         .         .       g.98431
 agtcccattattttacgcatgtatgtgcagatacgttctacccacacgtgtgcgtgcaca       c.*2580

          .         .         .         .         .         .       g.98491
 tggctgtgtgcgtgcaccaaagatggactgctttccatgtgtccttttgactttctgcac       c.*2640

          .         .         .         .         .         .       g.98551
 gtgtcactgcggtgcagtctcttagcagacttcaggcccaaactgtattcttcactcagg       c.*2700

          .         .         .         .         .         .       g.98611
 caaaattgaaaagtggaataattctaaattacttctaggttatacttttacctccctgaa       c.*2760

          .         .         .         .         .         .       g.98671
 attgtagttgtcacttggagggcaaaatatttattgaaataaaattttctgttaaaaatt       c.*2820

                                                                    g.98673
 ca                                                                 c.*2822

 (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 Calmodulin regulated spectrin-associated protein 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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