insulin receptor (INSR) - coding DNA reference sequence

(used for variant description)

(last modified January 23, 2020)


This file was created to facilitate the description of sequence variants on transcript NM_000208.2 in the INSR gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008852.2, covering INSR transcript NM_000208.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5049
            gagaaggacgcgcggcccccagcgcctcttgggtggccgcctcggagca       c.-61

 .         .         .         .         .         .                g.5109
 tgacccccgcgggccagcgccgcgcgctctgatccgaggagaccccgcgctcccgcagcc       c.-1

          .         .         .         .         .         .       g.5169
 ATGGCCACCGGGGGCCGGCGGGGGGCGGCGGCCGCGCCGCTGCTGGTGGCGGTGGCCGCG       c.60
 M  A  T  G  G  R  R  G  A  A  A  A  P  L  L  V  A  V  A  A         p.20

          .         .         .         . | 02       .         .    g.31124
 CTGCTACTGGGCGCCGCGGGCCACCTGTACCCCGGAGAGG | TGTGTCCCGGCATGGATATC    c.120
 L  L  L  G  A  A  G  H  L  Y  P  G  E  V |   C  P  G  M  D  I      p.40

          .         .         .         .         .         .       g.31184
 CGGAACAACCTCACTAGGTTGCATGAGCTGGAGAATTGCTCTGTCATCGAAGGACACTTG       c.180
 R  N  N  L  T  R  L  H  E  L  E  N  C  S  V  I  E  G  H  L         p.60

          .         .         .         .         .         .       g.31244
 CAGATACTCTTGATGTTCAAAACGAGGCCCGAAGATTTCCGAGACCTCAGTTTCCCCAAA       c.240
 Q  I  L  L  M  F  K  T  R  P  E  D  F  R  D  L  S  F  P  K         p.80

          .         .         .         .         .         .       g.31304
 CTCATCATGATCACTGATTACTTGCTGCTCTTCCGGGTCTATGGGCTCGAGAGCCTGAAG       c.300
 L  I  M  I  T  D  Y  L  L  L  F  R  V  Y  G  L  E  S  L  K         p.100

          .         .         .         .         .         .       g.31364
 GACCTGTTCCCCAACCTCACGGTCATCCGGGGATCACGACTGTTCTTTAACTACGCGCTG       c.360
 D  L  F  P  N  L  T  V  I  R  G  S  R  L  F  F  N  Y  A  L         p.120

          .         .         .         .         .         .       g.31424
 GTCATCTTCGAGATGGTTCACCTCAAGGAACTCGGCCTCTACAACCTGATGAACATCACC       c.420
 V  I  F  E  M  V  H  L  K  E  L  G  L  Y  N  L  M  N  I  T         p.140

          .         .         .         .         .         .       g.31484
 CGGGGTTCTGTCCGCATCGAGAAGAACAATGAGCTCTGTTACTTGGCCACTATCGACTGG       c.480
 R  G  S  V  R  I  E  K  N  N  E  L  C  Y  L  A  T  I  D  W         p.160

          .         .         .         .         .         .       g.31544
 TCCCGTATCCTGGATTCCGTGGAGGATAATTACATCGTGTTGAACAAAGATGACAACGAG       c.540
 S  R  I  L  D  S  V  E  D  N  Y  I  V  L  N  K  D  D  N  E         p.180

          .         .         .         .         .         .       g.31604
 GAGTGTGGAGACATCTGTCCGGGTACCGCGAAGGGCAAGACCAACTGCCCCGCCACCGTC       c.600
 E  C  G  D  I  C  P  G  T  A  K  G  K  T  N  C  P  A  T  V         p.200

          .         .         .         .         .   | 03     .    g.114371
 ATCAACGGGCAGTTTGTCGAACGATGTTGGACTCATAGTCACTGCCAGAAAG | TTTGCCCG    c.660
 I  N  G  Q  F  V  E  R  C  W  T  H  S  H  C  Q  K  V |   C  P      p.220

          .         .         .         .         .         .       g.114431
 ACCATCTGTAAGTCACACGGCTGCACCGCCGAAGGCCTCTGTTGCCACAGCGAGTGCCTG       c.720
 T  I  C  K  S  H  G  C  T  A  E  G  L  C  C  H  S  E  C  L         p.240

          .         .         .         .         .         .       g.114491
 GGCAACTGTTCTCAGCCCGACGACCCCACCAAGTGCGTGGCCTGCCGCAACTTCTACCTG       c.780
 G  N  C  S  Q  P  D  D  P  T  K  C  V  A  C  R  N  F  Y  L         p.260

          .         .         .         .         .         .       g.114551
 GACGGCAGGTGTGTGGAGACCTGCCCGCCCCCGTACTACCACTTCCAGGACTGGCGCTGT       c.840
 D  G  R  C  V  E  T  C  P  P  P  Y  Y  H  F  Q  D  W  R  C         p.280

          .         .         .         .         .         .       g.114611
 GTGAACTTCAGCTTCTGCCAGGACCTGCACCACAAATGCAAGAACTCGCGGAGGCAGGGC       c.900
 V  N  F  S  F  C  Q  D  L  H  H  K  C  K  N  S  R  R  Q  G         p.300

          .         .         .         .         .         .       g.114671
 TGCCACCAGTACGTCATTCACAACAACAAGTGCATCCCTGAGTGTCCCTCCGGGTACACG       c.960
 C  H  Q  Y  V  I  H  N  N  K  C  I  P  E  C  P  S  G  Y  T         p.320

          .     | 04   .         .         .         .         .    g.124315
 ATGAATTCCAGCAA | CTTGCTGTGCACCCCATGCCTGGGTCCCTGTCCCAAGGTGTGCCAC    c.1020
 M  N  S  S  N  |  L  L  C  T  P  C  L  G  P  C  P  K  V  C  H      p.340

          .         .         .         .         .         .       g.124375
 CTCCTAGAAGGCGAGAAGACCATCGACTCGGTGACGTCTGCCCAGGAGCTCCGAGGATGC       c.1080
 L  L  E  G  E  K  T  I  D  S  V  T  S  A  Q  E  L  R  G  C         p.360

          .         .         .         .    | 05    .         .    g.126583
 ACCGTCATCAACGGGAGTCTGATCATCAACATTCGAGGAGGCA | ACAATCTGGCAGCTGAG    c.1140
 T  V  I  N  G  S  L  I  I  N  I  R  G  G  N |   N  L  A  A  E      p.380

          .         .         .         .         .         .       g.126643
 CTAGAAGCCAACCTCGGCCTCATTGAAGAAATTTCAGGGTATCTAAAAATCCGCCGATCC       c.1200
 L  E  A  N  L  G  L  I  E  E  I  S  G  Y  L  K  I  R  R  S         p.400

          .         .         .         .         .         .       g.126703
 TACGCTCTGGTGTCACTTTCCTTCTTCCGGAAGTTACGTCTGATTCGAGGAGAGACCTTG       c.1260
 Y  A  L  V  S  L  S  F  F  R  K  L  R  L  I  R  G  E  T  L         p.420

          | 06         .         .         .         .         .    g.128301
 GAAATTGG | GAACTACTCCTTCTATGCCTTGGACAACCAGAACCTAAGGCAGCTCTGGGAC    c.1320
 E  I  G  |  N  Y  S  F  Y  A  L  D  N  Q  N  L  R  Q  L  W  D      p.440

          .         .         .         .         .         .       g.128361
 TGGAGCAAACACAACCTCACCATCACTCAGGGGAAACTCTTCTTCCACTATAACCCCAAA       c.1380
 W  S  K  H  N  L  T  I  T  Q  G  K  L  F  F  H  Y  N  P  K         p.460

          .         .         .         .         .         .       g.128421
 CTCTGCTTGTCAGAAATCCACAAGATGGAAGAAGTTTCAGGAACCAAGGGGCGCCAGGAG       c.1440
 L  C  L  S  E  I  H  K  M  E  E  V  S  G  T  K  G  R  Q  E         p.480

          .         .         .         .    | 07    .         .    g.130923
 AGAAACGACATTGCCCTGAAGACCAATGGGGACCAGGCATCCT | GTGAAAATGAGTTACTT    c.1500
 R  N  D  I  A  L  K  T  N  G  D  Q  A  S  C |   E  N  E  L  L      p.500

          .         .         .         .         .         .       g.130983
 AAATTTTCTTACATTCGGACATCTTTTGACAAGATCTTGCTGAGATGGGAGCCGTACTGG       c.1560
 K  F  S  Y  I  R  T  S  F  D  K  I  L  L  R  W  E  P  Y  W         p.520

          .         .         .         .         . | 08       .    g.132606
 CCCCCCGACTTCCGAGACCTCTTGGGGTTCATGCTGTTCTACAAAGAGGC | CCCTTATCAG    c.1620
 P  P  D  F  R  D  L  L  G  F  M  L  F  Y  K  E  A  |  P  Y  Q      p.540

          .         .         .         .         .         .       g.132666
 AATGTGACGGAGTTCGACGGGCAGGATGCGTGTGGTTCCAACAGTTGGACGGTGGTAGAC       c.1680
 N  V  T  E  F  D  G  Q  D  A  C  G  S  N  S  W  T  V  V  D         p.560

          .         .         .         .         .         .       g.132726
 ATTGACCCACCCCTGAGGTCCAACGACCCCAAATCACAGAACCACCCAGGGTGGCTGATG       c.1740
 I  D  P  P  L  R  S  N  D  P  K  S  Q  N  H  P  G  W  L  M         p.580

          .         .         .         .         .         .       g.132786
 CGGGGTCTCAAGCCCTGGACCCAGTATGCCATCTTTGTGAAGACCCTGGTCACCTTTTCG       c.1800
 R  G  L  K  P  W  T  Q  Y  A  I  F  V  K  T  L  V  T  F  S         p.600

          .         .         .         .         .         .       g.132846
 GATGAACGCCGGACCTATGGGGCCAAGAGTGACATCATTTATGTCCAGACAGATGCCACC       c.1860
 D  E  R  R  T  Y  G  A  K  S  D  I  I  Y  V  Q  T  D  A  T         p.620

   | 09      .         .         .         .         .         .    g.135860
 A | ACCCCTCTGTGCCCCTGGATCCAATCTCAGTGTCTAACTCATCATCCCAGATTATTCTG    c.1920
 N |   P  S  V  P  L  D  P  I  S  V  S  N  S  S  S  Q  I  I  L      p.640

          .         .         .         .         .         .       g.135920
 AAGTGGAAACCACCCTCCGACCCCAATGGCAACATCACCCACTACCTGGTTTTCTGGGAG       c.1980
 K  W  K  P  P  S  D  P  N  G  N  I  T  H  Y  L  V  F  W  E         p.660

          .         .         .         .          | 10        .    g.146084
 AGGCAGGCGGAAGACAGTGAGCTGTTCGAGCTGGATTATTGCCTCAAAG | GGCTGAAGCTG    c.2040
 R  Q  A  E  D  S  E  L  F  E  L  D  Y  C  L  K  G |   L  K  L      p.680

          .         .         .         .         .         .       g.146144
 CCCTCGAGGACCTGGTCTCCACCATTCGAGTCTGAAGATTCTCAGAAGCACAACCAGAGT       c.2100
 P  S  R  T  W  S  P  P  F  E  S  E  D  S  Q  K  H  N  Q  S         p.700

          .         .         .         .         .         .       g.146204
 GAGTATGAGGATTCGGCCGGCGAATGCTGCTCCTGTCCAAAGACAGACTCTCAGATCCTG       c.2160
 E  Y  E  D  S  A  G  E  C  C  S  C  P  K  T  D  S  Q  I  L         p.720

          .         .         .         .         .         .       g.146264
 AAGGAGCTGGAGGAGTCCTCGTTTAGGAAGACGTTTGAGGATTACCTGCACAACGTGGTT       c.2220
 K  E  L  E  E  S  S  F  R  K  T  F  E  D  Y  L  H  N  V  V         p.740

          .  | 11      .         .         .        | 12.         . g.155923
 TTCGTCCCCAG | AAAAACCTCTTCAGGCACTGGTGCCGAGGACCCTAG | GCCATCTCGGAAA c.2280
 F  V  P  R  |  K  T  S  S  G  T  G  A  E  D  P  R  |  P  S  R  K   p.760

          .         .         .         .         .         .       g.155983
 CGCAGGTCCCTTGGCGATGTTGGGAATGTGACGGTGGCCGTGCCCACGGTGGCAGCTTTC       c.2340
 R  R  S  L  G  D  V  G  N  V  T  V  A  V  P  T  V  A  A  F         p.780

          .         .         .         .         .         .       g.156043
 CCCAACACTTCCTCGACCAGCGTGCCCACGAGTCCGGAGGAGCACAGGCCTTTTGAGAAG       c.2400
 P  N  T  S  S  T  S  V  P  T  S  P  E  E  H  R  P  F  E  K         p.800

          .         .         .         .         .         .       g.156103
 GTGGTGAACAAGGAGTCGCTGGTCATCTCCGGCTTGCGACACTTCACGGGCTATCGCATC       c.2460
 V  V  N  K  E  S  L  V  I  S  G  L  R  H  F  T  G  Y  R  I         p.820

          .         .         .         .         .         .       g.156163
 GAGCTGCAGGCTTGCAACCAGGACACCCCTGAGGAACGGTGCAGTGTGGCAGCCTACGTC       c.2520
 E  L  Q  A  C  N  Q  D  T  P  E  E  R  C  S  V  A  A  Y  V         p.840

          .         .   | 13     .         .         .         .    g.157222
 AGTGCGAGGACCATGCCTGAAG | CCAAGGCTGATGACATTGTTGGCCCTGTGACGCATGAA    c.2580
 S  A  R  T  M  P  E  A |   K  A  D  D  I  V  G  P  V  T  H  E      p.860

          .         .         .         .         .         .       g.157282
 ATCTTTGAGAACAACGTCGTCCACTTGATGTGGCAGGAGCCGAAGGAGCCCAATGGTCTG       c.2640
 I  F  E  N  N  V  V  H  L  M  W  Q  E  P  K  E  P  N  G  L         p.880

          .         .         .         .   | 14     .         .    g.166701
 ATCGTGCTGTATGAAGTGAGTTATCGGCGATATGGTGATGAG | GAGCTGCATCTCTGCGTC    c.2700
 I  V  L  Y  E  V  S  Y  R  R  Y  G  D  E   | E  L  H  L  C  V      p.900

          .         .         .         .         .         .       g.166761
 TCCCGCAAGCACTTCGCTCTGGAACGGGGCTGCAGGCTGCGTGGGCTGTCACCGGGGAAC       c.2760
 S  R  K  H  F  A  L  E  R  G  C  R  L  R  G  L  S  P  G  N         p.920

          .         .         .         .         .         .       g.166821
 TACAGCGTGCGAATCCGGGCCACCTCCCTTGCGGGCAACGGCTCTTGGACGGAACCCACC       c.2820
 Y  S  V  R  I  R  A  T  S  L  A  G  N  G  S  W  T  E  P  T         p.940

          .         .   | 15     .         .         .         .    g.170084
 TATTTCTACGTGACAGACTATT | TAGACGTCCCGTCAAATATTGCAAAAATTATCATCGGC    c.2880
 Y  F  Y  V  T  D  Y  L |   D  V  P  S  N  I  A  K  I  I  I  G      p.960

          .         .         .         .         .         .       g.170144
 CCCCTCATCTTTGTCTTTCTCTTCAGTGTTGTGATTGGAAGTATTTATCTATTCCTGAGA       c.2940
 P  L  I  F  V  F  L  F  S  V  V  I  G  S  I  Y  L  F  L  R         p.980

       | 16  .         .         .         .         .         .    g.172404
 AAGAG | GCAGCCAGATGGGCCGCTGGGACCGCTTTACGCTTCTTCAAACCCTGAGTATCTC    c.3000
 K  R  |  Q  P  D  G  P  L  G  P  L  Y  A  S  S  N  P  E  Y  L      p.1000

          .    | 17    .         .         .         .         .    g.173520
 AGTGCCAGTGATG | TGTTTCCATGCTCTGTGTACGTGCCGGACGAGTGGGAGGTGTCTCGA    c.3060
 S  A  S  D  V |   F  P  C  S  V  Y  V  P  D  E  W  E  V  S  R      p.1020

          .         .         .         .         .         .       g.173580
 GAGAAGATCACCCTCCTTCGAGAGCTGGGGCAGGGCTCCTTCGGCATGGTGTATGAGGGC       c.3120
 E  K  I  T  L  L  R  E  L  G  Q  G  S  F  G  M  V  Y  E  G         p.1040

          .         .         .         .         .         .       g.173640
 AATGCCAGGGACATCATCAAGGGTGAGGCAGAGACCCGCGTGGCGGTGAAGACGGTCAAC       c.3180
 N  A  R  D  I  I  K  G  E  A  E  T  R  V  A  V  K  T  V  N         p.1060

          .         .         .         .         .         .       g.173700
 GAGTCAGCCAGTCTCCGAGAGCGGATTGAGTTCCTCAATGAGGCCTCGGTCATGAAGGGC       c.3240
 E  S  A  S  L  R  E  R  I  E  F  L  N  E  A  S  V  M  K  G         p.1080

          .         | 18         .         .         .         .    g.176053
 TTCACCTGCCATCACGTG | GTGCGCCTCCTGGGAGTGGTGTCCAAGGGCCAGCCCACGCTG    c.3300
 F  T  C  H  H  V   | V  R  L  L  G  V  V  S  K  G  Q  P  T  L      p.1100

          .         .         .         .         .         .       g.176113
 GTGGTGATGGAGCTGATGGCTCACGGAGACCTGAAGAGCTACCTCCGTTCTCTGCGGCCA       c.3360
 V  V  M  E  L  M  A  H  G  D  L  K  S  Y  L  R  S  L  R  P         p.1120

           | 19        .         .         .         .         .    g.176278
 GAGGCTGAG | AATAATCCTGGCCGCCCTCCCCCTACCCTTCAAGAGATGATTCAGATGGCG    c.3420
 E  A  E   | N  N  P  G  R  P  P  P  T  L  Q  E  M  I  Q  M  A      p.1140

          .         .         .         .         .         .       g.176338
 GCAGAGATTGCTGACGGGATGGCCTACCTGAACGCCAAGAAGTTTGTGCATCGGGACCTG       c.3480
 A  E  I  A  D  G  M  A  Y  L  N  A  K  K  F  V  H  R  D  L         p.1160

          .         .         .         .          | 20        .    g.178262
 GCAGCGAGAAACTGCATGGTCGCCCATGATTTTACTGTCAAAATTGGAG | ACTTTGGAATG    c.3540
 A  A  R  N  C  M  V  A  H  D  F  T  V  K  I  G  D |   F  G  M      p.1180

          .         .         .         .         .         .       g.178322
 ACCAGAGACATCTATGAAACGGATTACTACCGGAAAGGGGGCAAGGGTCTGCTCCCTGTA       c.3600
 T  R  D  I  Y  E  T  D  Y  Y  R  K  G  G  K  G  L  L  P  V         p.1200

          .         .         .         .         .          | 21    g.179418
 CGGTGGATGGCACCGGAGTCCCTGAAGGATGGGGTCTTCACCACTTCTTCTGACATGTG | G    c.3660
 R  W  M  A  P  E  S  L  K  D  G  V  F  T  T  S  S  D  M  W  |      p.1220

          .         .         .         .         .         .       g.179478
 TCCTTTGGCGTGGTCCTTTGGGAAATCACCAGCTTGGCAGAACAGCCTTACCAAGGCCTG       c.3720
 S  F  G  V  V  L  W  E  I  T  S  L  A  E  Q  P  Y  Q  G  L         p.1240

          .         .         .         .         .         .       g.179538
 TCTAATGAACAGGTGTTGAAATTTGTCATGGATGGAGGGTATCTGGATCAACCCGACAAC       c.3780
 S  N  E  Q  V  L  K  F  V  M  D  G  G  Y  L  D  Q  P  D  N         p.1260

          .     | 22   .         .         .         .         .    g.181636
 TGTCCAGAGAGAGT | CACTGACCTCATGCGCATGTGCTGGCAATTCAACCCCAAGATGAGG    c.3840
 C  P  E  R  V  |  T  D  L  M  R  M  C  W  Q  F  N  P  K  M  R      p.1280

          .         .         .         .         .         .       g.181696
 CCAACCTTCCTGGAGATTGTCAACCTGCTCAAGGACGACCTGCACCCCAGCTTTCCAGAG       c.3900
 P  T  F  L  E  I  V  N  L  L  K  D  D  L  H  P  S  F  P  E         p.1300

          .         .         .         .         .         .       g.181756
 GTGTCGTTCTTCCACAGCGAGGAGAACAAGGCTCCCGAGAGTGAGGAGCTGGAGATGGAG       c.3960
 V  S  F  F  H  S  E  E  N  K  A  P  E  S  E  E  L  E  M  E         p.1320

          .         .         .         .         .         .       g.181816
 TTTGAGGACATGGAGAATGTGCCCCTGGACCGTTCCTCGCACTGTCAGAGGGAGGAGGCG       c.4020
 F  E  D  M  E  N  V  P  L  D  R  S  S  H  C  Q  R  E  E  A         p.1340

          .         .         .         .         .         .       g.181876
 GGGGGCCGGGATGGAGGGTCCTCGCTGGGTTTCAAGCGGAGCTACGAGGAACACATCCCT       c.4080
 G  G  R  D  G  G  S  S  L  G  F  K  R  S  Y  E  E  H  I  P         p.1360

          .         .         .         .         .         .       g.181936
 TACACACACATGAACGGAGGCAAGAAAAACGGGCGGATTCTGACCTTGCCTCGGTCCAAT       c.4140
 Y  T  H  M  N  G  G  K  K  N  G  R  I  L  T  L  P  R  S  N         p.1380

                                                                    g.181945
 CCTTCCTAA                                                          c.4149
 P  S  X                                                            p.1382

          .         .         .         .         .         .       g.182005
 cagtgcctaccgtggcgggggcgggcaggggttcccattttcgctttcctctggtttgaa       c.*60

          .         .         .         .         .         .       g.182065
 agcctctggaaaactcaggattctcacgactctaccatgtccaatggagttcagagatcg       c.*120

          .         .         .         .         .         .       g.182125
 ttcctatacatttctgttcatcttaaggtggactcgtttggttaccaatttaactagtcc       c.*180

          .         .         .         .         .         .       g.182185
 tgcagaggatttaactgtgaacctggagggcaaggggtttccacagttgctgctcctttg       c.*240

          .         .         .         .         .         .       g.182245
 gggcaacgacggtttcaaaccaggattttgtgttttttcgttccccccacccgcccccag       c.*300

          .         .         .         .         .         .       g.182305
 cagatggaaagaaagcacctgtttttacaaattctttttttttttttttttttttgctgg       c.*360

          .         .         .         .         .         .       g.182365
 tgtctgagcttcagtataaaagacaaaacttcctgtttgtggaacaaaagttcgaaagaa       c.*420

          .         .         .         .         .         .       g.182425
 aaaacaaaacaaaaacacccagccctgttccaggagaatttcaagttttacaggttgagc       c.*480

          .         .         .         .         .         .       g.182485
 ttcaagatggtttttttggttttttttttttctctcatccaggctgaaggattttttttt       c.*540

          .         .         .         .         .         .       g.182545
 tctttacaaaatgagttcctcaaattgaccaatagctgctgctttcatattttggataag       c.*600

          .         .         .         .         .         .       g.182605
 ggtctgtggtcccggcgtgtgctcacgtgtgtatgcacgtgtgtgtgtccattagacacg       c.*660

          .         .         .         .         .         .       g.182665
 gctgatgtgtgtgcaaagtatccatgcggagttgatgctttgggaattggctcatgaagg       c.*720

          .         .         .         .         .         .       g.182725
 ttcttctcaagggtgcgagctcatccccctctctccttccttcttattgactgggagact       c.*780

          .         .         .         .         .         .       g.182785
 gtgctctcgacagattcttcttgtgtcagaagtctagcctcaggtttctaccctcccttc       c.*840

          .         .         .         .         .         .       g.182845
 acattggtggccaagggaggagcatttcatttggagtgattatgaatcttttcaagacca       c.*900

          .         .         .         .         .         .       g.182905
 aaccaagctaggacattaaaaaaaaaaaaagaaaaagaaagaaaaaacaaaatggaaaaa       c.*960

          .         .         .         .         .         .       g.182965
 ggaaaaaaaaaaagaactgagatgacagagttttgagaatatatttgtaccatatttaat       c.*1020

          .         .         .         .         .         .       g.183025
 ttttaaagtctctggtattagcctcataagttattgactattccccggggttggcgggga       c.*1080

          .         .         .         .         .         .       g.183085
 gtggggacatgagttggtctgcctgttgtggggccgggaaggggagggagtcaggcacaa       c.*1140

          .         .         .         .         .         .       g.183145
 gtggcctctttgtttggtcttaaaggcatccatttctgggaatgaagccatgttcgctgc       c.*1200

          .         .         .         .         .         .       g.183205
 taacacttttggatgttgtgaggccacgtggagtgtgtgagagactaggttttatggatg       c.*1260

          .         .         .         .         .         .       g.183265
 gtctggttcaggtaccaggtctgctggaaggttcctgttcggataagctggtagctacct       c.*1320

          .         .         .         .         .         .       g.183325
 agctctgagcctgccttcaagaacacctgtgttcatcctctgattctctgtgtgtacctc       c.*1380

          .         .         .         .         .         .       g.183385
 ttgtggcgtttcctctcccgggtgtgaacatcctaaccgttattgtgcaaacccaagaac       c.*1440

          .         .         .         .         .         .       g.183445
 gtcagatcccaaagcacaacaacctggatggactttgggaacatctaagcaatgtaagag       c.*1500

          .         .         .         .         .         .       g.183505
 agaggtgcactgagagtacgtcttggtcccctccaccctgagagcatctgacggtcctca       c.*1560

          .         .         .         .         .         .       g.183565
 gtactgaactcccggaagctgctctgagcccggtgacctcatctgggccaggtgtggtgc       c.*1620

          .         .         .         .         .         .       g.183625
 ctgagctgaatgctcaggtgcttacagtgttgcaatccctaagagagtagagtctggagg       c.*1680

          .         .         .         .         .         .       g.183685
 agaaaccgtgaaaaagaccttacacaccaccaagaacttccgaatgggcgtgaatccacc       c.*1740

          .         .         .         .         .         .       g.183745
 gtttcttctctttgcaaaaagaaccaccacagctgctcaaagaacacagtgaactcatca       c.*1800

          .         .         .         .         .         .       g.183805
 ctttggttcatcaaaaaatcatcgcccatgcgttattcctgagtgcattttcttacaact       c.*1860

          .         .         .         .         .         .       g.183865
 ttttgactgcttccttttcttcttctcttaagagttgtgggcttaagaatgggatagagt       c.*1920

          .         .         .         .         .         .       g.183925
 cataatggcaacctccaagccctctcaattcttgattaagaacacaggtagacatgaatc       c.*1980

          .         .         .         .         .         .       g.183985
 ccaattgtctattgctatcttatttatatgattcgggaaaatacagcatgtaaaaatatt       c.*2040

          .         .         .         .         .         .       g.184045
 gctgaggagcctcagtgattgggtacaagaagcaagagtacagaaattatttttgccaaa       c.*2100

          .         .         .         .         .         .       g.184105
 tttattttgtaaatatgagggtctgtacctaaatttaaaaaaaaaacacgtagaactagg       c.*2160

          .         .         .         .         .         .       g.184165
 tattttgttctcttcttagtaaatttgtagtggttgtatactacactagctgcaattttc       c.*2220

          .         .         .         .         .         .       g.184225
 acatttttctaattcagaaaggtttttcttatattaggggaaaaagtatttattttaata       c.*2280

          .         .         .         .         .         .       g.184285
 tataaaatcactctgaaaatcactctcataaaaaatggagcgcatgtaaatttttatcaa       c.*2340

          .         .         .         .         .         .       g.184345
 agaaaaataaacaggtgaatgggggatagtgattttcttttttcagcacagtctacctca       c.*2400

          .         .         .         .         .         .       g.184405
 gtgtattgttaagatgtgattcaatcatggacatctttgagatttcagaattctacctgg       c.*2460

          .         .         .         .         .         .       g.184465
 aaccggtctgaatcagggaacgtgtgtatcagctgattcgaatgccagggaccagtaaga       c.*2520

          .         .         .         .         .         .       g.184525
 attttgagggagggagttgggatggagaaggtatggcctttatgcgagcatagatccttt       c.*2580

          .         .         .         .         .         .       g.184585
 tcttcctggctggtaatattcttctctgaatttaatcttcctttaaaaaaaaatcctcca       c.*2640

          .         .         .         .         .         .       g.184645
 tctattgtcactatgttccccaaacataaactaagttccaggctgtcatgatgtatctga       c.*2700

          .         .         .         .         .         .       g.184705
 tatatggggtaacccagcaaggtgtaccttcctttggtgagagatggctgccggggcaaa       c.*2760

          .         .         .         .         .         .       g.184765
 gacgggctttgattcagagcaagcattcccacctgttccatggaatccccctgaagtgag       c.*2820

          .         .         .         .         .         .       g.184825
 cacaaaggtgccctgggctccctgatggtttatgcccactcctttcaggctggtgatgca       c.*2880

          .         .         .         .         .         .       g.184885
 ccttacacacaaacacctaatgcaatgtctttttaaattctccaagtgggatgggagcat       c.*2940

          .         .         .         .         .         .       g.184945
 gtgagggaaattccaatccaaaacccattaatgtgctgaacgcttttttttttttttttt       c.*3000

          .         .         .         .         .         .       g.185005
 ttttttttgcaacaacaccttggacctctgtgttggggtttgactgacctcaagctgata       c.*3060

          .         .         .         .         .         .       g.185065
 ttattggaccttgtgcagctttgataacccatgtgagagtctaggcaggaccagtggggc       c.*3120

          .         .         .         .         .         .       g.185125
 ccaaatcttgctgctcttgtacttttaggcactgcccttgcagactcacctttctccacc       c.*3180

          .         .         .         .         .         .       g.185185
 tgccctggagaaaggtagggtgtgctgggcctgccccttgcaaatgggattcaccagttt       c.*3240

          .         .         .         .         .         .       g.185245
 catttatttgactctactgccacagtgaaaagagcaaacagctattgggttgcaaacctc       c.*3300

          .         .         .         .         .         .       g.185305
 ctttgacattaggaaatgttgactttgtaacaataaaactttggtcctagaaagacacgg       c.*3360

          .         .         .         .         .         .       g.185365
 ttgtcctgggagtttgtagtgttaagttgcaacaacaacaacaaaaagcaacaaaaccag       c.*3420

          .         .         .         .         .         .       g.185425
 cttaggataacactttttgttgcttgttcttaaagatgtctcactatgattaaaaccctt       c.*3480

          .         .         .         .         .         .       g.185485
 ttcattaatgtagtgaaagccacacaggagttccttcttccaggaggagaataccaagca       c.*3540

          .         .         .         .         .         .       g.185545
 catcactttctctctgcatcagtgatgtcaaatacgcatcagaaaatgttcaggttttag       c.*3600

          .         .         .         .         .         .       g.185605
 gagctgtcctaggtgctgtttcatcattggaagcagtgagaaagagaagcactgctgctt       c.*3660

          .         .         .         .         .         .       g.185665
 gtctggatataggctgaggatgattgagagaagctgtgggaactgacacaagggtctgca       c.*3720

          .         .         .         .         .         .       g.185725
 taggtcatcctgtgaccctggggactatgttaccaactgacagacagatctttcactgta       c.*3780

          .         .         .         .         .         .       g.185785
 tcctagcagggcaggtagtccaccaagaaatgtgcttattggattgggaggtgtttattt       c.*3840

          .         .         .         .         .         .       g.185845
 gtagtctgctgtaacacgtgtgaaagagcaggagcgtcatcagcatatgacttgcgctgg       c.*3900

          .         .         .         .         .         .       g.185905
 tcatccggtaaatggatgtgctgtagtcccagtgctaatcatttctctccttcacagtgg       c.*3960

          .         .         .         .         .         .       g.185965
 gtggaagtttagggttaaatgtcctttgaatgtcacctggtgagtccttgacaccttagg       c.*4020

          .         .         .         .         .         .       g.186025
 ctcttcagaaacaatggttttgttgaggatggggaacagggaatgccgattttatataca       c.*4080

          .         .         .         .         .         .       g.186085
 tggtacacagagaggggtgtcacttcagaaaatcttccagcatgttcttcagaatattaa       c.*4140

          .         .         .         .         .         .       g.186145
 tttatatgcgaggtgaggttgggaatgaaaagaacaggtcagcacttttttttttcctag       c.*4200

          .         .         .         .         .         .       g.186205
 aacatacaaaagaacatggtggactttcagggagtgcaatggaaggtgaatatttcctta       c.*4260

          .         .         .         .         .         .       g.186265
 agggtccccgagaaatgggagtgaggggaggggacacaatggctttttgagcttactttt       c.*4320

          .         .         .         .         .         .       g.186325
 accttctgatactagtcaaggtccagaaccagccaccagccaaatttctatctgggtgcg       c.*4380

          .         .         .         .         .         .       g.186385
 ggccactgaaaatccttgttaaaaaccagatcacaaatctggggctcttggtcccattgg       c.*4440

          .         .         .         .         .         .       g.186445
 agaaggaaggaagagcctcaaaataagtgtgcacccatgcacatattcaggaacagcttg       c.*4500

          .         .         .         .         .         .       g.186505
 tttagtctttacactttgcctgaaagttgcttctcctcgtccctttgtgtgcctgggtgg       c.*4560

          .         .         .         .         .         .       g.186565
 cctcggccctgtgcgttggcaacgcaggatcaaatgtgctgcagcttttgcagaaaacaa       c.*4620

          .         .         .         .         .         .       g.186625
 ctcagaaacacaaaaccccccaacagctcaattattattttttcaatgttttcctacaag       c.*4680

          .         .         .         .         .         .       g.186685
 agccaagtagcaccatgtacagaagacgcctttttttttggaatattgaaatcgttctgc       c.*4740

          .         .         .         .         .         .       g.186745
 atgtaaaatatgggataatgacctgtttatattaaaattctgattaaattatctgagaat       c.*4800

                                                                    g.186746
 a                                                                  c.*4801

 (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 Insulin receptor 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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