otoferlin (OTOF) - coding DNA reference sequence

(used for variant description)

(last modified March 18, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_194248.2 in the OTOF gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009937.1, covering OTOF transcript NM_194248.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5007
                                                      atcggag       c.-121

 .         .         .         .         .         .                g.5067
 gggggtcgggaggaggaggaggaggcagcggcagagaagagagaggcgtgtgagccgtgc       c.-61

 .         .         .         .         .         .                g.5127
 tccaccggctagctccttcccgctgctcctgcctggcagtgccaggcagcccacaccagc       c.-1

          .         .         .         .         .         .       g.5187
 ATGGCCTTGCTCATCCACCTCAAGACAGTCTCGGAGCTGCGGGGCAGGGGCGACCGGATC       c.60
 M  A  L  L  I  H  L  K  T  V  S  E  L  R  G  R  G  D  R  I         p.20

          .          | 02        .         .         .         .    g.25965
 GCCAAAGTGACTTTCCGAG | GGCAATCCTTCTACTCTCGGGTCCTGGAGAACTGTGAGGAT    c.120
 A  K  V  T  F  R  G |   Q  S  F  Y  S  R  V  L  E  N  C  E  D      p.40

          .         | 03         .         .         .         .    g.35820
 GTGGCTGACTTTGATGAG | ACATTTCGGTGGCCGGTGGCCAGCAGCATCGACAGAAATGAG    c.180
 V  A  D  F  D  E   | T  F  R  W  P  V  A  S  S  I  D  R  N  E      p.60

          .         .         .         .        | 04.         .    g.44602
 ATGCTGGAGATTCAGGTTTTCAACTACAGCAAAGTCTTCAGCAACAA | GCTCATCGGGACC    c.240
 M  L  E  I  Q  V  F  N  Y  S  K  V  F  S  N  K  |  L  I  G  T      p.80

          .         .         .         .         .         .       g.44662
 TTCCGCATGGTGCTGCAGAAGGTGGTAGAGGAGAGCCATGTGGAGGTGACTGACACGCTG       c.300
 F  R  M  V  L  Q  K  V  V  E  E  S  H  V  E  V  T  D  T  L         p.100

          .         .        | 05.         .         .         .    g.47132
 ATTGATGACAACAATGCTATCATCAAG | ACCAGCCTGTGCGTGGAGGTCCGGTATCAGGCC    c.360
 I  D  D  N  N  A  I  I  K   | T  S  L  C  V  E  V  R  Y  Q  A      p.120

          .         .         .         .         .         .       g.47192
 ACTGACGGCACAGTGGGCTCCTGGGACGATGGGGACTTCCTGGGAGATGAGTCTCTTCAA       c.420
 T  D  G  T  V  G  S  W  D  D  G  D  F  L  G  D  E  S  L  Q         p.140

          .         .         .         .         .         .       g.47252
 GAGGAAGAGAAGGACAGCCAAGAGACGGATGGACTGCTCCCAGGCTCCCGGCCCAGCTCC       c.480
 E  E  E  K  D  S  Q  E  T  D  G  L  L  P  G  S  R  P  S  S         p.160

          .         .          | 06        .         .         .    g.59884
 CGGCCCCCAGGAGAGAAGAGCTTCCGGAG | AGCCGGGAGGAGCGTGTTCTCCGCCATGAAG    c.540
 R  P  P  G  E  K  S  F  R  R  |  A  G  R  S  V  F  S  A  M  K      p.180

          .         .         .         .    | 07    .         .    g.61289
 CTCGGCAAAAACCGGTCTCACAAGGAGGAGCCCCAAAGACCAG | ATGAACCGGCGGTGCTG    c.600
 L  G  K  N  R  S  H  K  E  E  P  Q  R  P  D |   E  P  A  V  L      p.200

          .         .         .         .         .         .       g.61349
 GAGATGGAAGACCTTGACCATCTGGCCATTCGGCTAGGAGATGGACTGGATCCCGACTCG       c.660
 E  M  E  D  L  D  H  L  A  I  R  L  G  D  G  L  D  P  D  S         p.220

          .         .         .         .         . | 08       .    g.61900
 GTGTCTCTAGCCTCAGTCACAGCTCTCACCACTAATGTCTCCAACAAGCG | ATCTAAGCCA    c.720
 V  S  L  A  S  V  T  A  L  T  T  N  V  S  N  K  R  |  S  K  P      p.240

          .         .         .         .      | 09  .         .    g.68640
 GACATTAAGATGGAGCCAAGTGCTGGGCGGCCCATGGATTACCAG | GTCAGCATCACGGTG    c.780
 D  I  K  M  E  P  S  A  G  R  P  M  D  Y  Q   | V  S  I  T  V      p.260

          .         .         .         .         .         .       g.68700
 ATCGAGGCCCGGCAGCTGGTGGGCTTGAACATGGACCCTGTGGTGTGCGTGGAGGTGGGT       c.840
 I  E  A  R  Q  L  V  G  L  N  M  D  P  V  V  C  V  E  V  G         p.280

          .         .         .         .         .        | 10.    g.73961
 GACGACAAGAAGTACACATCCATGAAGGAGTCCACTAACTGCCCCTATTACAACGAG | TAC    c.900
 D  D  K  K  Y  T  S  M  K  E  S  T  N  C  P  Y  Y  N  E   | Y      p.300

          .         .         .         .         .         .       g.74021
 TTCGTCTTCGACTTCCATGTCTCTCCGGATGTCATGTTTGACAAGATCATCAAGATTTCG       c.960
 F  V  F  D  F  H  V  S  P  D  V  M  F  D  K  I  I  K  I  S         p.320

  | 11       .         .         .         .         .         .    g.74463
  | GTGATTCACTCCAAGAACCTGCTGCGCAGTGGCACCCTGGTGGGCTCCTTCAAAATGGAC    c.1020
  | V  I  H  S  K  N  L  L  R  S  G  T  L  V  G  S  F  K  M  D      p.340

          .         .      | 12  .         .         .         .    g.79100
 GTGGGAACCGTGTACTCGCAGCCAG | AGCACCAGTTCCATCACAAGTGGGCCATCCTGTCT    c.1080
 V  G  T  V  Y  S  Q  P  E |   H  Q  F  H  H  K  W  A  I  L  S      p.360

          .         .         .         .         .         .       g.79160
 GACCCCGATGACATCTCCTCGGGGCTGAAGGGCTACGTGAAGTGTGACGTTGCCGTGGTG       c.1140
 D  P  D  D  I  S  S  G  L  K  G  Y  V  K  C  D  V  A  V  V         p.380

          .         .         .         .         .         .       g.79220
 GGCAAAGGGGACAACATCAAGACGCCCCACAAGGCCAATGAGACCGACGAAGATGACATT       c.1200
 G  K  G  D  N  I  K  T  P  H  K  A  N  E  T  D  E  D  D  I         p.400

       | 13  .         .         .         .         .         .    g.80105
 GAGGG | GAACTTGCTGCTCCCCGAGGGGGTGCCCCCCGAACGCCAGTGGGCCCGGTTCTAT    c.1260
 E  G  |  N  L  L  L  P  E  G  V  P  P  E  R  Q  W  A  R  F  Y      p.420

          .         .         .         .         .         .       g.80165
 GTGAAAATTTACCGAGCAGAGGGGCTGCCCCGTATGAACACAAGCCTCATGGCCAATGTA       c.1320
 V  K  I  Y  R  A  E  G  L  P  R  M  N  T  S  L  M  A  N  V         p.440

          .         .         .         .         .         .       g.80225
 AAGAAGGCTTTCATCGGTGAAAACAAGGACCTCGTGGACCCCTACGTGCAAGTCTTCTTT       c.1380
 K  K  A  F  I  G  E  N  K  D  L  V  D  P  Y  V  Q  V  F  F         p.460

          .   | 14     .         .         .         .         .    g.81154
 GCTGGCCAGAAG | GGCAAGACTTCAGTGCAGAAGAGCAGCTATGAGCCCCTGTGGAATGAG    c.1440
 A  G  Q  K   | G  K  T  S  V  Q  K  S  S  Y  E  P  L  W  N  E      p.480

          .         .         .         .         .         .       g.81214
 CAGGTCGTCTTTACAGACCTCTTCCCCCCACTCTGCAAACGCATGAAGGTGCAGATCCGA       c.1500
 Q  V  V  F  T  D  L  F  P  P  L  C  K  R  M  K  V  Q  I  R         p.500

          .         .         .         .         .         .       g.81274
 GACTCGGACAAGGTCAACGACGTGGCCATCGGCACCCACTTCATTGACCTGCGCAAGATT       c.1560
 D  S  D  K  V  N  D  V  A  I  G  T  H  F  I  D  L  R  K  I         p.520

          .          | 15        .         .         .         .    g.82730
 TCTAATGACGGAGACAAAG | GCTTCCTGCCCACACTGGGCCCAGCCTGGGTGAACATGTAC    c.1620
 S  N  D  G  D  K  G |   F  L  P  T  L  G  P  A  W  V  N  M  Y      p.540

          .         .         .         .         .         .       g.82790
 GGCTCCACACGTAACTACACGCTGCTGGATGAGCATCAGGACCTGAACGAGGGCCTGGGG       c.1680
 G  S  T  R  N  Y  T  L  L  D  E  H  Q  D  L  N  E  G  L  G         p.560

          .         .         .         .         .         .       g.82850
 GAGGGTGTGTCCTTCCGGGCCCGGCTCCTGCTGGGCCTGGCTGTGGAGATCGTAGACACC       c.1740
 E  G  V  S  F  R  A  R  L  L  L  G  L  A  V  E  I  V  D  T         p.580

          .         .         .         .         .         .       g.82910
 TCCAACCCTGAGCTCACCAGCTCCACAGAGGTGCAGGTGGAGCAGGCCACGCCCATCTCG       c.1800
 S  N  P  E  L  T  S  S  T  E  V  Q  V  E  Q  A  T  P  I  S         p.600

     | 16    .         .         .         .         .         .    g.83444
 GAG | AGCTGTGCAGGTAAAATGGAAGAATTCTTTCTCTTTGGAGCCTTCCTGGAGGCCTCA    c.1860
 E   | S  C  A  G  K  M  E  E  F  F  L  F  G  A  F  L  E  A  S      p.620

          .         .         .         .         .   | 17     .    g.84053
 ATGATCGACCGGAGAAACGGAGACAAGCCCATCACCTTTGAGGTCACCATAG | GCAACTAT    c.1920
 M  I  D  R  R  N  G  D  K  P  I  T  F  E  V  T  I  G |   N  Y      p.640

          .         .         .         .         .         .       g.84113
 GGGAACGAAGTTGATGGCCTGTCCCGGCCCCAGCGGCCTCGGCCCCGGAAGGAGCCGGGG       c.1980
 G  N  E  V  D  G  L  S  R  P  Q  R  P  R  P  R  K  E  P  G         p.660

          .         .         .         .         .         .       g.84173
 GATGAGGAAGAAGTAGACCTGATTCAGAACGCAAGTGATGACGAGGCCGGTGATGCCGGG       c.2040
 D  E  E  E  V  D  L  I  Q  N  A  S  D  D  E  A  G  D  A  G         p.680

          .         .         .         .         .    | 18    .    g.84321
 GACCTGGCCTCAGTCTCCTCCACTCCACCAATGCGGCCCCAGGTCACCGACAG | GAACTAC    c.2100
 D  L  A  S  V  S  S  T  P  P  M  R  P  Q  V  T  D  R  |  N  Y      p.700

          .         .         .         .         .         .       g.84381
 TTCCATCTGCCCTACCTGGAGCGAAAGCCCTGCATCTACATCAAGAGCTGGTGGCCGGAC       c.2160
 F  H  L  P  Y  L  E  R  K  P  C  I  Y  I  K  S  W  W  P  D         p.720

          .         .         .         .         .     | 19   .    g.85955
 CAGCGCCGCCGCCTCTACAATGCCAACATCATGGACCACATTGCCGACAAGCTG | GAAGAA    c.2220
 Q  R  R  R  L  Y  N  A  N  I  M  D  H  I  A  D  K  L   | E  E      p.740

          .         .         .         .         .         .       g.86015
 GGCCTGAACGACATACAGGAGATGATCAAAACGGAGAAGTCCTACCCTGAGCGTCGCCTG       c.2280
 G  L  N  D  I  Q  E  M  I  K  T  E  K  S  Y  P  E  R  R  L         p.760

          .         .         .      | 20  .         .         .    g.86217
 CGGGGCGTCCTGGAGGAGCTGAGCTGTGGCTGCTG | CCGCTTCCTCTCCCTCGCTGACAAG    c.2340
 R  G  V  L  E  E  L  S  C  G  C  C  |  R  F  L  S  L  A  D  K      p.780

          .         .         .         .         .         .       g.86277
 GACCAGGGCCACTCATCCCGCACCAGGCTTGACCGGGAGCGCCTCAAGTCCTGCATGAGG       c.2400
 D  Q  G  H  S  S  R  T  R  L  D  R  E  R  L  K  S  C  M  R         p.800

        | 21 .         .         .         .         .         .    g.86464
 GAGCTG | GAAAACATGGGGCAGCAGGCCAGGATGCTGCGGGCCCAGGTGAAGCGGCACACG    c.2460
 E  L   | E  N  M  G  Q  Q  A  R  M  L  R  A  Q  V  K  R  H  T      p.820

          .         .         .         .         .         .       g.86524
 GTGCGGGACAAGCTGAGGCTGTGCCAGAACTTCCTGCAGAAGCTGCGCTTCCTGGCGGAC       c.2520
 V  R  D  K  L  R  L  C  Q  N  F  L  Q  K  L  R  F  L  A  D         p.840

     | 22    .         .         .         .         .         .    g.86712
 GAG | CCCCAGCACAGCATTCCCGACATCTTCATCTGGATGATGAGCAACAACAAGCGTGTC    c.2580
 E   | P  Q  H  S  I  P  D  I  F  I  W  M  M  S  N  N  K  R  V      p.860

          .         .         .         .         .         .       g.86772
 GCCTATGCCCGTGTGCCCTCCAAGGACCTGCTCTTCTCCATCGTGGAGGAGGAGACTGGC       c.2640
 A  Y  A  R  V  P  S  K  D  L  L  F  S  I  V  E  E  E  T  G         p.880

          .         .         .       | 23 .         .         .    g.87405
 AAGGACTGCGCCAAGGTCAAGACGCTCTTCCTTAAG | CTGCCAGGGAAGCGGGGCTTCGGC    c.2700
 K  D  C  A  K  V  K  T  L  F  L  K   | L  P  G  K  R  G  F  G      p.900

          .         .         .         .         .         .       g.87465
 TCGGCAGGCTGGACAGTGCAGGCCAAGGTGGAGCTGTACCTGTGGCTGGGCCTCAGCAAA       c.2760
 S  A  G  W  T  V  Q  A  K  V  E  L  Y  L  W  L  G  L  S  K         p.920

          .         .         .         .         .         .       g.87525
 CAGCGCAAGGAGTTCCTGTGCGGCCTGCCCTGTGGCTTCCAGGAGGTCAAGGCAGCCCAG       c.2820
 Q  R  K  E  F  L  C  G  L  P  C  G  F  Q  E  V  K  A  A  Q         p.940

          .         .         .         .       | 24 .         .    g.87674
 GGCCTGGGCCTGCATGCCTTCCCACCCGTCAGCCTGGTCTACACCA | AGAAGCAGGCGTTC    c.2880
 G  L  G  L  H  A  F  P  P  V  S  L  V  Y  T  K |   K  Q  A  F      p.960

          .         .         .         .         .         .       g.87734
 CAGCTCCGAGCGCACATGTACCAGGCCCGCAGCCTCTTTGCCGCCGACAGCAGCGGACTC       c.2940
 Q  L  R  A  H  M  Y  Q  A  R  S  L  F  A  A  D  S  S  G  L         p.980

          .         .         .         .         .  | 25      .    g.88214
 TCAGACCCCTTTGCCCGCGTCTTCTTCATCAATCAGAGTCAGTGCACAGAG | GTGCTGAAT    c.3000
 S  D  P  F  A  R  V  F  F  I  N  Q  S  Q  C  T  E   | V  L  N      p.1000

          .         .         .         .         .         .       g.88274
 GAGACCCTGTGTCCCACCTGGGACCAGATGCTGGTGTTCGACAACCTGGAGCTCTATGGT       c.3060
 E  T  L  C  P  T  W  D  Q  M  L  V  F  D  N  L  E  L  Y  G         p.1020

          .         .         .         .         .         .       g.88334
 GAAGCTCATGAGCTGAGGGACGATCCGCCCATCATTGTCATTGAAATCTATGACCAGGAT       c.3120
 E  A  H  E  L  R  D  D  P  P  I  I  V  I  E  I  Y  D  Q  D         p.1040

        | 26 .         .         .         .         .         .    g.89078
 TCCATG | GGCAAAGCTGACTTCATGGGCCGGACCTTCGCCAAACCCCTGGTGAAGATGGCA    c.3180
 S  M   | G  K  A  D  F  M  G  R  T  F  A  K  P  L  V  K  M  A      p.1060

          .         .         .         .         .         .       g.89138
 GACGAGGCGTACTGCCCACCCCGCTTCCCACCTCAGCTCGAGTACTACCAGATCTACCGT       c.3240
 D  E  A  Y  C  P  P  R  F  P  P  Q  L  E  Y  Y  Q  I  Y  R         p.1080

          .         .         .         .         | 27         .    g.89600
 GGCAACGCCACAGCTGGAGACCTGCTGGCGGCCTTCGAGCTGCTGCAG | ATTGGACCAGCA    c.3300
 G  N  A  T  A  G  D  L  L  A  A  F  E  L  L  Q   | I  G  P  A      p.1100

          .         .         .         .         .         .       g.89660
 GGGAAGGCTGACCTGCCCCCCATCAATGGCCCGGTGGACGTGGACCGAGGTCCCATCATG       c.3360
 G  K  A  D  L  P  P  I  N  G  P  V  D  V  D  R  G  P  I  M         p.1120

          .         .         .         .         | 28         .    g.90143
 CCCGTGCCCATGGGCATCCGGCCCGTGCTCAGCAAGTACCGAGTGGAG | GTGCTGTTCTGG    c.3420
 P  V  P  M  G  I  R  P  V  L  S  K  Y  R  V  E   | V  L  F  W      p.1140

          .         .         .         .         .         .       g.90203
 GGCCTACGGGACCTAAAGCGGGTGAACCTGGCCCAGGTGGACCGGCCACGGGTGGACATC       c.3480
 G  L  R  D  L  K  R  V  N  L  A  Q  V  D  R  P  R  V  D  I         p.1160

          .         .         .         .         .         .       g.90263
 GAGTGTGCAGGGAAGGGGGTGCAGTCGTCCCTGATCCACAATTATAAGAAGAACCCCAAC       c.3540
 E  C  A  G  K  G  V  Q  S  S  L  I  H  N  Y  K  K  N  P  N         p.1180

          .         .         . | 29       .         .         .    g.90434
 TTCAACACCCTCGTCAAGTGGTTTGAAGTG | GACCTCCCAGAGAACGAGCTGCTGCACCCG    c.3600
 F  N  T  L  V  K  W  F  E  V   | D  L  P  E  N  E  L  L  H  P      p.1200

          .         .         .         .         .         .       g.90494
 CCCTTGAACATCCGTGTGGTGGACTGCCGGGCCTTCGGTCGCTACACACTGGTGGGCTCC       c.3660
 P  L  N  I  R  V  V  D  C  R  A  F  G  R  Y  T  L  V  G  S         p.1220

          .         .         .         .         .         .       g.90554
 CATGCCGTCAGCTCCCTGCGACGCTTCATCTACCGGCCCCCAGACCGCTCGGCCCCCAGC       c.3720
 H  A  V  S  S  L  R  R  F  I  Y  R  P  P  D  R  S  A  P  S         p.1240

          .    | 30    .         .         .         .         .    g.91096
 TGGAACACCACGG | TCAGGCTTCTCCGGCGCTGCCGTGTGCTGTGCAATGGGGGCTCCTCC    c.3780
 W  N  T  T  V |   R  L  L  R  R  C  R  V  L  C  N  G  G  S  S      p.1260

          .         .         .         .         .         .       g.91156
 TCTCACTCCACAGGGGAGGTTGTGGTGACTATGGAGCCAGAGGTACCCATCAAGAAACTG       c.3840
 S  H  S  T  G  E  V  V  V  T  M  E  P  E  V  P  I  K  K  L         p.1280

          .         .     | 31   .         .         .     | 32   . g.92983
 GAGACCATGGTGAAGCTGGACGCG | ACTTCTGAAGCTGTTGTCAAGGTGGATGTG | GCTGAG c.3900
 E  T  M  V  K  L  D  A   | T  S  E  A  V  V  K  V  D  V   | A  E   p.1300

          .         .         .         .         .         .       g.93043
 GAGGAGAAGGAGAAGAAGAAGAAGAAGAAGGGCACTGCGGAGGAGCCAGAGGAGGAGGAG       c.3960
 E  E  K  E  K  K  K  K  K  K  G  T  A  E  E  P  E  E  E  E         p.1320

          .         .         .         .         .         .       g.93103
 CCAGACGAGAGCATGCTGGACTGGTGGTCCAAGTACTTTGCCTCCATTGACACCATGAAG       c.4020
 P  D  E  S  M  L  D  W  W  S  K  Y  F  A  S  I  D  T  M  K         p.1340

     | 33    .         .         .         .         .         .    g.95281
 GAG | CAACTTCGACAACAAGAGCCCTCTGGAATTGACTTGGAGGAGAAGGAGGAAGTGGAC    c.4080
 E   | Q  L  R  Q  Q  E  P  S  G  I  D  L  E  E  K  E  E  V  D      p.1360

          . | 34       .         .         .         .         .    g.96247
 AATACCGAGG | GCCTGAAGGGGTCAATGAAGGGCAAGGAGAAGGCAAGGGCTGCCAAAGAG    c.4140
 N  T  E  G |   L  K  G  S  M  K  G  K  E  K  A  R  A  A  K  E      p.1380

          .         .         .         .         .         .       g.96307
 GAGAAGAAGAAGAAAACTCAGAGCTCTGGCTCTGGCCAGGGGTCCGAGGCCCCCGAGAAG       c.4200
 E  K  K  K  K  T  Q  S  S  G  S  G  Q  G  S  E  A  P  E  K         p.1400

          .         .        | 35.         .         .         .    g.96498
 AAGAAACCCAAGATTGATGAGCTTAAG | GTATACCCCAAAGAGCTGGAGTCCGAGTTTGAT    c.4260
 K  K  P  K  I  D  E  L  K   | V  Y  P  K  E  L  E  S  E  F  D      p.1420

          .         .         .         .         .         .       g.96558
 AACTTTGAGGACTGGCTGCACACTTTCAACTTGCTTCGGGGCAAGACCGGGGATGATGAG       c.4320
 N  F  E  D  W  L  H  T  F  N  L  L  R  G  K  T  G  D  D  E         p.1440

          .         .         .         .   | 36     .         .    g.96865
 GATGGCTCCACCGAGGAGGAGCGCATTGTGGGACGCTTCAAG | GGCTCCCTCTGCGTGTAC    c.4380
 D  G  S  T  E  E  E  R  I  V  G  R  F  K   | G  S  L  C  V  Y      p.1460

          .         .         .         .         .         .       g.96925
 AAAGTGCCACTCCCAGAGGACGTGTCCCGGGAAGCCGGCTACGACTCCACCTACGGCATG       c.4440
 K  V  P  L  P  E  D  V  S  R  E  A  G  Y  D  S  T  Y  G  M         p.1480

          .         .         .         .         .         .       g.96985
 TTCCAGGGCATCCCGAGCAATGACCCCATCAATGTGCTGGTCCGAGTCTATGTGGTCCGG       c.4500
 F  Q  G  I  P  S  N  D  P  I  N  V  L  V  R  V  Y  V  V  R         p.1500

  | 37       .         .         .         .         .         .    g.97682
  | GCCACGGACCTGCACCCTGCTGACATCAACGGCAAAGCTGACCCCTACATCGCCATCCGG    c.4560
  | A  T  D  L  H  P  A  D  I  N  G  K  A  D  P  Y  I  A  I  R      p.1520

          .         .         .         .         .         .       g.97742
 CTAGGCAAGACTGACATCCGCGACAAGGAGAACTACATCTCCAAGCAGCTCAACCCTGTC       c.4620
 L  G  K  T  D  I  R  D  K  E  N  Y  I  S  K  Q  L  N  P  V         p.1540

          | 38         .         .         .         .         .    g.97908
 TTTGGGAA | GTCCTTTGACATCGAGGCCTCCTTCCCCATGGAATCCATGCTGACGGTGGCT    c.4680
 F  G  K  |  S  F  D  I  E  A  S  F  P  M  E  S  M  L  T  V  A      p.1560

          .         .         .         .         .         .       g.97968
 GTGTATGACTGGGACCTGGTGGGCACTGATGACCTCATTGGGGAAACCAAGATCGACCTG       c.4740
 V  Y  D  W  D  L  V  G  T  D  D  L  I  G  E  T  K  I  D  L         p.1580

          .         .         .         .         .          | 39    g.98670
 GAGAACCGCTTCTACAGCAAGCACCGCGCCACCTGCGGCATCGCCCAGACCTACTCCAC | A    c.4800
 E  N  R  F  Y  S  K  H  R  A  T  C  G  I  A  Q  T  Y  S  T  |      p.1600

          .         .         .         .         .         .       g.98730
 CATGGCTACAATATCTGGCGGGACCCCATGAAGCCCAGCCAGATCCTGACCCGCCTCTGC       c.4860
 H  G  Y  N  I  W  R  D  P  M  K  P  S  Q  I  L  T  R  L  C         p.1620

          .         .         .         .         .         .       g.98790
 AAAGACGGCAAAGTGGACGGCCCCCACTTTGGGCCCCCTGGGAGAGTGAAGGTGGCCAAC       c.4920
 K  D  G  K  V  D  G  P  H  F  G  P  P  G  R  V  K  V  A  N         p.1640

          .         .         .         . | 40       .         .    g.99612
 CGCGTCTTCACTGGGCCCTCTGAGATTGAGGACGAGAACG | GTCAGAGGAAGCCCACAGAC    c.4980
 R  V  F  T  G  P  S  E  I  E  D  E  N  G |   Q  R  K  P  T  D      p.1660

          .         .         .         .         .         .       g.99672
 GAGCATGTGGCGCTGTTGGCCCTGAGGCACTGGGAGGACATCCCCCGCGCAGGCTGCCGC       c.5040
 E  H  V  A  L  L  A  L  R  H  W  E  D  I  P  R  A  G  C  R         p.1680

          .         .         .         .         .         .       g.99732
 CTGGTGCCAGAGCATGTGGAGACGAGGCCGCTGCTCAACCCCGACAAGCCGGGCATCGAG       c.5100
 L  V  P  E  H  V  E  T  R  P  L  L  N  P  D  K  P  G  I  E         p.1700

     | 41    .         .         .         .         .         .    g.100184
 CAG | GGCCGCCTGGAGCTGTGGGTGGACATGTTCCCCATGGACATGCCAGCCCCTGGGACG    c.5160
 Q   | G  R  L  E  L  W  V  D  M  F  P  M  D  M  P  A  P  G  T      p.1720

          .         .         .   | 42     .         .         .    g.101545
 CCTCTGGACATCTCACCTCGGAAGCCCAAGAA | GTACGAGCTGCGGGTCATCATCTGGAAC    c.5220
 P  L  D  I  S  P  R  K  P  K  K  |  Y  E  L  R  V  I  I  W  N      p.1740

          .         .         .         .         .         .       g.101605
 ACAGATGAGGTGGTCTTGGAGGACGACGACTTCTTCACAGGGGAGAAGTCCAGTGACATC       c.5280
 T  D  E  V  V  L  E  D  D  D  F  F  T  G  E  K  S  S  D  I         p.1760

          .  | 43      .         .         .         .         .    g.101810
 TTCGTGAGGGG | GTGGCTGAAGGGCCAGCAGGAGGACAAGCAGGACACAGACGTCCACTAC    c.5340
 F  V  R  G  |  W  L  K  G  Q  Q  E  D  K  Q  D  T  D  V  H  Y      p.1780

          .         .         .         .         .         .       g.101870
 CACTCCCTCACTGGCGAGGGCAACTTCAACTGGCGCTACCTGTTCCCCTTCGACTACCTG       c.5400
 H  S  L  T  G  E  G  N  F  N  W  R  Y  L  F  P  F  D  Y  L         p.1800

          .         .         .         .         .         .       g.101930
 GCGGCGGAGGAGAAGATCGTCATCTCCAAGAAGGAGTCCATGTTCTCCTGGGACGAGACC       c.5460
 A  A  E  E  K  I  V  I  S  K  K  E  S  M  F  S  W  D  E  T         p.1820

          .         .         .         .         .         .       g.101990
 GAGTACAAGATCCCCGCGCGGCTCACCCTGCAGATCTGGGATGCGGACCACTTCTCCGCT       c.5520
 E  Y  K  I  P  A  R  L  T  L  Q  I  W  D  A  D  H  F  S  A         p.1840

          .    | 44    .         .         .         .         .    g.102715
 GACGACTTCCTGG | GGGCCATCGAGCTGGACCTGAACCGGTTCCCGCGGGGCGCAAAGACA    c.5580
 D  D  F  L  G |   A  I  E  L  D  L  N  R  F  P  R  G  A  K  T      p.1860

          .         .         .         .         .         .       g.102775
 GCCAAGCAGTGCACCATGGAGATGGCCACCGGGGAGGTGGACGTGCCCCTCGTGTCCATC       c.5640
 A  K  Q  C  T  M  E  M  A  T  G  E  V  D  V  P  L  V  S  I         p.1880

          .         .         .         .         .         .       g.102835
 TTCAAGCAAAAGCGCGTCAAAGGCTGGTGGCCCCTCCTGGCCCGCAATGAGAACGATGAG       c.5700
 F  K  Q  K  R  V  K  G  W  W  P  L  L  A  R  N  E  N  D  E         p.1900

          .   | 45     .         .         .         .         .    g.102999
 TTTGAGCTCACG | GGCAAGGTGGAGGCTGAGCTGCATTTACTGACAGCAGAGGAGGCAGAG    c.5760
 F  E  L  T   | G  K  V  E  A  E  L  H  L  L  T  A  E  E  A  E      p.1920

          .         .         .         .         .    | 46    .    g.103500
 AAGAACCCAGTGGGCCTGGCCCGCAATGAACCTGACCCCCTAGAGAAACCCAA | CCGGCCC    c.5820
 K  N  P  V  G  L  A  R  N  E  P  D  P  L  E  K  P  N  |  R  P      p.1940

          .         .         .         .         .         .       g.103560
 GACACGAGCTTCATCTGGTTCCTGAACCCTCTCAAGTCGGCTCGCTACTTCTTGTGGCAC       c.5880
 D  T  S  F  I  W  F  L  N  P  L  K  S  A  R  Y  F  L  W  H         p.1960

          .         .         .         .         .         .       g.103620
 ACGTATCGCTGGCTGCTCCTCAAACTGTTGCTGCTCCTGCTGCTGCTCCTCCTCCTCGCC       c.5940
 T  Y  R  W  L  L  L  K  L  L  L  L  L  L  L  L  L  L  L  A         p.1980

          .         .         .         .         .                 g.103674
 CTGTTCCTCTACTCTGTGCCTGGCTACCTGGTCAAGAAAATCCTCGGGGCCTGA             c.5994
 L  F  L  Y  S  V  P  G  Y  L  V  K  K  I  L  G  A  X               p.1997

          .        | 47.         .         .         .         .    g.105521
 gcccagtggcctcctgg | ccggcccgacacggccttcgtctggttcctcaaccctctcaag    c.*60

          .         .         .         .         .         .       g.105581
 tccatcaagtacctcatctgcacccggtacaagtggctcatcatcaagatcgtgctggcg       c.*120

          .         .         .         .         .         .       g.105641
 ctgttggggctgctcatgttggggctcttcctctacagcctccctggctacatggtcaaa       c.*180

          .         .         .         .         .         .       g.105701
 aagctccttggggcatgaaggccgccagctcccgccagccgctccccagccctgccgcat       c.*240

          .         .         .         .         .         .       g.105761
 ttcctttcagtggcttggactctttcccatctcccctggggagcctgaggagcccagcgt       c.*300

          .         .         .         .         .         .       g.105821
 ccactcttcatgccttgggccgagcctgcctcctgcttgcgggggccgcctgtcctcact       c.*360

          .         .         .         .         .         .       g.105881
 gccccaggctgcggcttgcccagtcccgcccctctgacccctgcctgtgggctggggagc       c.*420

          .         .         .         .         .         .       g.105941
 cttggatggggtggggacctggaatgggtctctcttgccccacctggctgaggcgccacc       c.*480

          .         .         .         .         .         .       g.106001
 cttcttcaggcccaggctccagaggaagactcctgaaaccctccccaggtcttccaagta       c.*540

          .         .         .         .         .         .       g.106061
 caggattgaagctttagtgaaattaaccaaggaccatgggtcagtgcccagggctttaaa       c.*600

          .         .         .         .         .         .       g.106121
 aagaatgaacgagcaaaaggtatccccgccgtgacccctgcagatagcaccggtctttga       c.*660

          .         .         .         .         .         .       g.106181
 tccgcagcaggggccagaccctgcccacaagtcccagcgcggctgcttctgccactgctg       c.*720

          .         .         .         .         .         .       g.106241
 ggctccacttggctcctctcacttcccagggggtcgcctgtcctgcctgtgggtttccat       c.*780

          .         .         .         .         .         .       g.106301
 ggcttcccagagctccctctgccccagccagcgcctccaggcccagctgaggagctgtga       c.*840

          .         .         .         .         .         .       g.106361
 gaagcagcagaggggactccccatcccgggcacaccctgtcctcccacccctgccccctt       c.*900

          .         .         .         .         .         .       g.106421
 gcccttccagccctttcagctgcagctgggagctggcccgtcaagtgctgcccctgcctg       c.*960

          .         .         .         .         .         .       g.106481
 tgtctgggtttctgttggctgtttttcttttcttgagtggtgatttttctctaaataaaa       c.*1020

          .                                                         g.106496
 gaagtcaagcactga                                                    c.*1035

 (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 Otoferlin 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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