insulin-like growth factor 1 receptor (IGF1R) - coding DNA reference sequence

(used for variant description)

(last modified August 19, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_000875.3 in the IGF1R gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009492.1, covering IGF1R transcript NM_000875.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5050
           ttttttttttttttttttgagaaaggggaatttcatcccaaataaaagga       c.-1

          .         .         .         .         .         .       g.5110
 ATGAAGTCTGGCTCCGGAGGAGGGTCCCCGACCTCGCTGTGGGGGCTCCTGTTTCTCTCC       c.60
 M  K  S  G  S  G  G  G  S  P  T  S  L  W  G  L  L  F  L  S         p.20

          .         .         .     | 02   .         .         .    g.63056
 GCCGCGCTCTCGCTCTGGCCGACGAGTGGAGAAA | TCTGCGGGCCAGGCATCGACATCCGC    c.120
 A  A  L  S  L  W  P  T  S  G  E  I |   C  G  P  G  I  D  I  R      p.40

          .         .         .         .         .         .       g.63116
 AACGACTATCAGCAGCTGAAGCGCCTGGAGAACTGCACGGTGATCGAGGGCTACCTCCAC       c.180
 N  D  Y  Q  Q  L  K  R  L  E  N  C  T  V  I  E  G  Y  L  H         p.60

          .         .         .         .         .         .       g.63176
 ATCCTGCTCATCTCCAAGGCCGAGGACTACCGCAGCTACCGCTTCCCCAAGCTCACGGTC       c.240
 I  L  L  I  S  K  A  E  D  Y  R  S  Y  R  F  P  K  L  T  V         p.80

          .         .         .         .         .         .       g.63236
 ATTACCGAGTACTTGCTGCTGTTCCGAGTGGCTGGCCTCGAGAGCCTCGGAGACCTCTTC       c.300
 I  T  E  Y  L  L  L  F  R  V  A  G  L  E  S  L  G  D  L  F         p.100

          .         .         .         .         .         .       g.63296
 CCCAACCTCACGGTCATCCGCGGCTGGAAACTCTTCTACAACTACGCCCTGGTCATCTTC       c.360
 P  N  L  T  V  I  R  G  W  K  L  F  Y  N  Y  A  L  V  I  F         p.120

          .         .         .         .         .         .       g.63356
 GAGATGACCAATCTCAAGGATATTGGGCTTTACAACCTGAGGAACATTACTCGGGGGGCC       c.420
 E  M  T  N  L  K  D  I  G  L  Y  N  L  R  N  I  T  R  G  A         p.140

          .         .         .         .         .         .       g.63416
 ATCAGGATTGAGAAAAATGCTGACCTCTGTTACCTCTCCACTGTGGACTGGTCCCTGATC       c.480
 I  R  I  E  K  N  A  D  L  C  Y  L  S  T  V  D  W  S  L  I         p.160

          .         .         .         .         .         .       g.63476
 CTGGATGCGGTGTCCAATAACTACATTGTGGGGAATAAGCCCCCAAAGGAATGTGGGGAC       c.540
 L  D  A  V  S  N  N  Y  I  V  G  N  K  P  P  K  E  C  G  D         p.180

          .         .         .         .         .         .       g.63536
 CTGTGTCCAGGGACCATGGAGGAGAAGCCGATGTGTGAGAAGACCACCATCAACAATGAG       c.600
 L  C  P  G  T  M  E  E  K  P  M  C  E  K  T  T  I  N  N  E         p.200

          .         .         .         . | 03       .         .    g.246813
 TACAACTACCGCTGCTGGACCACAAACCGCTGCCAGAAAA | TGTGCCCAAGCACGTGTGGG    c.660
 Y  N  Y  R  C  W  T  T  N  R  C  Q  K  M |   C  P  S  T  C  G      p.220

          .         .         .         .         .         .       g.246873
 AAGCGGGCGTGCACCGAGAACAATGAGTGCTGCCACCCCGAGTGCCTGGGCAGCTGCAGC       c.720
 K  R  A  C  T  E  N  N  E  C  C  H  P  E  C  L  G  S  C  S         p.240

          .         .         .         .         .         .       g.246933
 GCGCCTGACAACGACACGGCCTGTGTAGCTTGCCGCCACTACTACTATGCCGGTGTCTGT       c.780
 A  P  D  N  D  T  A  C  V  A  C  R  H  Y  Y  Y  A  G  V  C         p.260

          .         .         .         .         .         .       g.246993
 GTGCCTGCCTGCCCGCCCAACACCTACAGGTTTGAGGGCTGGCGCTGTGTGGACCGTGAC       c.840
 V  P  A  C  P  P  N  T  Y  R  F  E  G  W  R  C  V  D  R  D         p.280

          .         .         .         .         .         .       g.247053
 TTCTGCGCCAACATCCTCAGCGCCGAGAGCAGCGACTCCGAGGGGTTTGTGATCCACGAC       c.900
 F  C  A  N  I  L  S  A  E  S  S  D  S  E  G  F  V  I  H  D         p.300

          .         .         .         .         .    | 04    .    g.252232
 GGCGAGTGCATGCAGGAGTGCCCCTCGGGCTTCATCCGCAACGGCAGCCAGAG | CATGTAC    c.960
 G  E  C  M  Q  E  C  P  S  G  F  I  R  N  G  S  Q  S  |  M  Y      p.320

          .         .         .         .         .         .       g.252292
 TGCATCCCTTGTGAAGGTCCTTGCCCGAAGGTCTGTGAGGAAGAAAAGAAAACAAAGACC       c.1020
 C  I  P  C  E  G  P  C  P  K  V  C  E  E  E  K  K  T  K  T         p.340

          .         .         .         .         .         .       g.252352
 ATTGATTCTGTTACTTCTGCTCAGATGCTCCAAGGATGCACCATCTTCAAGGGCAATTTG       c.1080
 I  D  S  V  T  S  A  Q  M  L  Q  G  C  T  I  F  K  G  N  L         p.360

          .         .   | 05     .         .         .         .    g.254983
 CTCATTAACATCCGACGGGGGA | ATAACATTGCTTCAGAGCTGGAGAACTTCATGGGGCTC    c.1140
 L  I  N  I  R  R  G  N |   N  I  A  S  E  L  E  N  F  M  G  L      p.380

          .         .         .         .         .         .       g.255043
 ATCGAGGTGGTGACGGGCTACGTGAAGATCCGCCATTCTCATGCCTTGGTCTCCTTGTCC       c.1200
 I  E  V  V  T  G  Y  V  K  I  R  H  S  H  A  L  V  S  L  S         p.400

          .         .         .         .        | 06.         .    g.264166
 TTCCTAAAAAACCTTCGCCTCATCCTAGGAGAGGAGCAGCTAGAAGG | GAATTACTCCTTC    c.1260
 F  L  K  N  L  R  L  I  L  G  E  E  Q  L  E  G  |  N  Y  S  F      p.420

          .         .         .         .         .         .       g.264226
 TACGTCCTCGACAACCAGAACTTGCAGCAACTGTGGGACTGGGACCACCGCAACCTGACC       c.1320
 Y  V  L  D  N  Q  N  L  Q  Q  L  W  D  W  D  H  R  N  L  T         p.440

          .         .         .         .         .         .       g.264286
 ATCAAAGCAGGGAAAATGTACTTTGCTTTCAATCCCAAATTATGTGTTTCCGAAATTTAC       c.1380
 I  K  A  G  K  M  Y  F  A  F  N  P  K  L  C  V  S  E  I  Y         p.460

          .         .         .         .         .         .       g.264346
 CGCATGGAGGAAGTGACGGGGACTAAAGGGCGCCAAAGCAAAGGGGACATAAACACCAGG       c.1440
 R  M  E  E  V  T  G  T  K  G  R  Q  S  K  G  D  I  N  T  R         p.480

          .         .   | 07     .         .         .         .    g.266821
 AACAACGGGGAGAGAGCCTCCT | GTGAAAGTGACGTCCTGCATTTCACCTCCACCACCACG    c.1500
 N  N  G  E  R  A  S  C |   E  S  D  V  L  H  F  T  S  T  T  T      p.500

          .         .         .         .         .         .       g.266881
 TCGAAGAATCGCATCATCATAACCTGGCACCGGTACCGGCCCCCTGACTACAGGGATCTC       c.1560
 S  K  N  R  I  I  I  T  W  H  R  Y  R  P  P  D  Y  R  D  L         p.520

          .         .          | 08        .         .         .    g.268543
 ATCAGCTTCACCGTTTACTACAAGGAAGC | ACCCTTTAAGAATGTCACAGAGTATGATGGG    c.1620
 I  S  F  T  V  Y  Y  K  E  A  |  P  F  K  N  V  T  E  Y  D  G      p.540

          .         .         .         .         .         .       g.268603
 CAGGATGCCTGCGGCTCCAACAGCTGGAACATGGTGGACGTGGACCTCCCGCCCAACAAG       c.1680
 Q  D  A  C  G  S  N  S  W  N  M  V  D  V  D  L  P  P  N  K         p.560

          .         .         .         .         .         .       g.268663
 GACGTGGAGCCCGGCATCTTACTACATGGGCTGAAGCCCTGGACTCAGTACGCCGTTTAC       c.1740
 D  V  E  P  G  I  L  L  H  G  L  K  P  W  T  Q  Y  A  V  Y         p.580

          .         .         .         .         .         .       g.268723
 GTCAAGGCTGTGACCCTCACCATGGTGGAGAACGACCATATCCGTGGGGCCAAGAGTGAG       c.1800
 V  K  A  V  T  L  T  M  V  E  N  D  H  I  R  G  A  K  S  E         p.600

          .         .         | 09         .         .         .    g.271464
 ATCTTGTACATTCGCACCAATGCTTCAG | TTCCTTCCATTCCCTTGGACGTTCTTTCAGCA    c.1860
 I  L  Y  I  R  T  N  A  S  V |   P  S  I  P  L  D  V  L  S  A      p.620

          .         .         .         .         .         .       g.271524
 TCGAACTCCTCTTCTCAGTTAATCGTGAAGTGGAACCCTCCCTCTCTGCCCAACGGCAAC       c.1920
 S  N  S  S  S  Q  L  I  V  K  W  N  P  P  S  L  P  N  G  N         p.640

          .         .         .         .         .         .       g.271584
 CTGAGTTACTACATTGTGCGCTGGCAGCGGCAGCCTCAGGACGGCTACCTTTACCGGCAC       c.1980
 L  S  Y  Y  I  V  R  W  Q  R  Q  P  Q  D  G  Y  L  Y  R  H         p.660

          .       | 10 .         .         .         .         .    g.272184
 AATTACTGCTCCAAAG | ACAAAATCCCCATCAGGAAGTATGCCGACGGCACCATCGACATT    c.2040
 N  Y  C  S  K  D |   K  I  P  I  R  K  Y  A  D  G  T  I  D  I      p.680

          .         .         .         .         .         .       g.272244
 GAGGAGGTCACAGAGAACCCCAAGACTGAGGTGTGTGGTGGGGAGAAAGGGCCTTGCTGC       c.2100
 E  E  V  T  E  N  P  K  T  E  V  C  G  G  E  K  G  P  C  C         p.700

          .         .         .         .         .         .       g.272304
 GCCTGCCCCAAAACTGAAGCCGAGAAGCAGGCCGAGAAGGAGGAGGCTGAATACCGCAAA       c.2160
 A  C  P  K  T  E  A  E  K  Q  A  E  K  E  E  A  E  Y  R  K         p.720

          .         .         .         .  | 11      .         .    g.277635
 GTCTTTGAGAATTTCCTGCACAACTCCATCTTCGTGCCCAG | ACCTGAAAGGAAGCGGAGA    c.2220
 V  F  E  N  F  L  H  N  S  I  F  V  P  R  |  P  E  R  K  R  R      p.740

          .         .         .         .         .         .       g.277695
 GATGTCATGCAAGTGGCCAACACCACCATGTCCAGCCGAAGCAGGAACACCACGGCCGCA       c.2280
 D  V  M  Q  V  A  N  T  T  M  S  S  R  S  R  N  T  T  A  A         p.760

          .         .         .         .         .         .       g.277755
 GACACCTACAACATCACCGACCCGGAAGAGCTGGAGACAGAGTACCCTTTCTTTGAGAGC       c.2340
 D  T  Y  N  I  T  D  P  E  E  L  E  T  E  Y  P  F  F  E  S         p.780

          .         .         .         .         .         .       g.277815
 AGAGTGGATAACAAGGAGAGAACTGTCATTTCTAACCTTCGGCCTTTCACATTGTACCGC       c.2400
 R  V  D  N  K  E  R  T  V  I  S  N  L  R  P  F  T  L  Y  R         p.800

          .         .         .         .         .         .       g.277875
 ATCGATATCCACAGCTGCAACCACGAGGCTGAGAAGCTGGGCTGCAGCGCCTCCAACTTC       c.2460
 I  D  I  H  S  C  N  H  E  A  E  K  L  G  C  S  A  S  N  F         p.820

          .         .      | 12  .         .         .         .    g.279379
 GTCTTTGCAAGGACTATGCCCGCAG | AAGGAGCAGATGACATTCCTGGGCCAGTGACCTGG    c.2520
 V  F  A  R  T  M  P  A  E |   G  A  D  D  I  P  G  P  V  T  W      p.840

          .         .         .         .         .         .       g.279439
 GAGCCAAGGCCTGAAAACTCCATCTTTTTAAAGTGGCCGGAACCTGAGAATCCCAATGGA       c.2580
 E  P  R  P  E  N  S  I  F  L  K  W  P  E  P  E  N  P  N  G         p.860

          .         .         .         .   | 13     .         .    g.280011
 TTGATTCTAATGTATGAAATAAAATACGGATCACAAGTTGAG | GATCAGCGAGAATGTGTG    c.2640
 L  I  L  M  Y  E  I  K  Y  G  S  Q  V  E   | D  Q  R  E  C  V      p.880

          .         .         .         .         .         .       g.280071
 TCCAGACAGGAATACAGGAAGTATGGAGGGGCCAAGCTAAACCGGCTAAACCCGGGGAAC       c.2700
 S  R  Q  E  Y  R  K  Y  G  G  A  K  L  N  R  L  N  P  G  N         p.900

          .         .         .         .         .         .       g.280131
 TACACAGCCCGGATTCAGGCCACATCTCTCTCTGGGAATGGGTCGTGGACAGATCCTGTG       c.2760
 Y  T  A  R  I  Q  A  T  S  L  S  G  N  G  S  W  T  D  P  V         p.920

          .         .   | 14     .         .         .         .    g.285064
 TTCTTCTATGTCCAGGCCAAAA | CAGGATATGAAAACTTCATCCATCTGATCATCGCTCTG    c.2820
 F  F  Y  V  Q  A  K  T |   G  Y  E  N  F  I  H  L  I  I  A  L      p.940

          .         .         .         .         .         .       g.285124
 CCCGTCGCTGTCCTGTTGATCGTGGGAGGGTTGGTGATTATGCTGTACGTCTTCCATAGA       c.2880
 P  V  A  V  L  L  I  V  G  G  L  V  I  M  L  Y  V  F  H  R         p.960

       | 15  .         .         .         .         .         .    g.285758
 AAGAG | AAATAACAGCAGGCTGGGGAATGGAGTGCTGTATGCCTCTGTGAACCCGGAGTAC    c.2940
 K  R  |  N  N  S  R  L  G  N  G  V  L  Y  A  S  V  N  P  E  Y      p.980

          .       | 16 .         .         .         .         .    g.290336
 TTCAGCGCTGCTGATG | TGTACGTTCCTGATGAGTGGGAGGTGGCTCGGGAGAAGATCACC    c.3000
 F  S  A  A  D  V |   Y  V  P  D  E  W  E  V  A  R  E  K  I  T      p.1000

          .         .         .         .         .         .       g.290396
 ATGAGCCGGGAACTTGGGCAGGGGTCGTTTGGGATGGTCTATGAAGGAGTTGCCAAGGGT       c.3060
 M  S  R  E  L  G  Q  G  S  F  G  M  V  Y  E  G  V  A  K  G         p.1020

          .         .         .         .         .         .       g.290456
 GTGGTGAAAGATGAACCTGAAACCAGAGTGGCCATTAAAACAGTGAACGAGGCCGCAAGC       c.3120
 V  V  K  D  E  P  E  T  R  V  A  I  K  T  V  N  E  A  A  S         p.1040

          .         .         .         .         .         .       g.290516
 ATGCGTGAGAGGATTGAGTTTCTCAACGAAGCTTCTGTGATGAAGGAGTTCAATTGTCAC       c.3180
 M  R  E  R  I  E  F  L  N  E  A  S  V  M  K  E  F  N  C  H         p.1060

        | 17 .         .         .         .         .         .    g.290838
 CATGTG | GTGCGATTGCTGGGTGTGGTGTCCCAAGGCCAGCCAACACTGGTCATCATGGAA    c.3240
 H  V   | V  R  L  L  G  V  V  S  Q  G  Q  P  T  L  V  I  M  E      p.1080

          .         .         .         .         .        | 18.    g.294672
 CTGATGACACGGGGCGATCTCAAAAGTTATCTCCGGTCTCTGAGGCCAGAAATGGAG | AAT    c.3300
 L  M  T  R  G  D  L  K  S  Y  L  R  S  L  R  P  E  M  E   | N      p.1100

          .         .         .         .         .         .       g.294732
 AATCCAGTCCTAGCACCTCCAAGCCTGAGCAAGATGATTCAGATGGCCGGAGAGATTGCA       c.3360
 N  P  V  L  A  P  P  S  L  S  K  M  I  Q  M  A  G  E  I  A         p.1120

          .         .         .         .         .         .       g.294792
 GACGGCATGGCATACCTCAACGCCAATAAGTTCGTCCACAGAGACCTTGCTGCCCGGAAT       c.3420
 D  G  M  A  Y  L  N  A  N  K  F  V  H  R  D  L  A  A  R  N         p.1140

          .         .         .        | 19.         .         .    g.298414
 TGCATGGTAGCCGAAGATTTCACAGTCAAAATCGGAG | ATTTTGGTATGACGCGAGATATC    c.3480
 C  M  V  A  E  D  F  T  V  K  I  G  D |   F  G  M  T  R  D  I      p.1160

          .         .         .         .         .         .       g.298474
 TATGAGACAGACTATTACCGGAAAGGAGGGAAAGGGCTGCTGCCCGTGCGCTGGATGTCT       c.3540
 Y  E  T  D  Y  Y  R  K  G  G  K  G  L  L  P  V  R  W  M  S         p.1180

          .         .         .         .        | 20.         .    g.304055
 CCTGAGTCCCTCAAGGATGGAGTCTTCACCACTTACTCGGACGTCTG | GTCCTTCGGGGTC    c.3600
 P  E  S  L  K  D  G  V  F  T  T  Y  S  D  V  W  |  S  F  G  V      p.1200

          .         .         .         .         .         .       g.304115
 GTCCTCTGGGAGATCGCCACACTGGCCGAGCAGCCCTACCAGGGCTTGTCCAACGAGCAA       c.3660
 V  L  W  E  I  A  T  L  A  E  Q  P  Y  Q  G  L  S  N  E  Q         p.1220

          .         .         .         .         .         .       g.304175
 GTCCTTCGCTTCGTCATGGAGGGCGGCCTTCTGGACAAGCCAGACAACTGTCCTGACATG       c.3720
 V  L  R  F  V  M  E  G  G  L  L  D  K  P  D  N  C  P  D  M         p.1240

    | 21     .         .         .         .         .         .    g.312587
 CT | GTTTGAACTGATGCGCATGTGCTGGCAGTATAACCCCAAGATGAGGCCTTCCTTCCTG    c.3780
 L  |  F  E  L  M  R  M  C  W  Q  Y  N  P  K  M  R  P  S  F  L      p.1260

          .         .         .         .         .         .       g.312647
 GAGATCATCAGCAGCATCAAAGAGGAGATGGAGCCTGGCTTCCGGGAGGTCTCCTTCTAC       c.3840
 E  I  I  S  S  I  K  E  E  M  E  P  G  F  R  E  V  S  F  Y         p.1280

          .         .         .         .         .         .       g.312707
 TACAGCGAGGAGAACAAGCTGCCCGAGCCGGAGGAGCTGGACCTGGAGCCAGAGAACATG       c.3900
 Y  S  E  E  N  K  L  P  E  P  E  E  L  D  L  E  P  E  N  M         p.1300

          .         .         .         .         .         .       g.312767
 GAGAGCGTCCCCCTGGACCCCTCGGCCTCCTCGTCCTCCCTGCCACTGCCCGACAGACAC       c.3960
 E  S  V  P  L  D  P  S  A  S  S  S  S  L  P  L  P  D  R  H         p.1320

          .         .         .         .         .         .       g.312827
 TCAGGACACAAGGCCGAGAACGGCCCCGGCCCTGGGGTGCTGGTCCTCCGCGCCAGCTTC       c.4020
 S  G  H  K  A  E  N  G  P  G  P  G  V  L  V  L  R  A  S  F         p.1340

          .         .         .         .         .         .       g.312887
 GACGAGAGACAGCCTTACGCCCACATGAACGGGGGCCGCAAGAACGAGCGGGCCTTGCCG       c.4080
 D  E  R  Q  P  Y  A  H  M  N  G  G  R  K  N  E  R  A  L  P         p.1360

          .         .                                               g.312911
 CTGCCCCAGTCTTCGACCTGCTGA                                           c.4104
 L  P  Q  S  S  T  C  X                                             p.1367

          .         .         .         .         .         .       g.312971
 tccttggatcctgaatctgtgcaaacagtaacgtgtgcgcacgcgcagcggggtgggggg       c.*60

          .         .         .         .         .         .       g.313031
 ggagagagagttttaacaatccattcacaagcctcctgtacctcagtggatcttcagaac       c.*120

          .         .         .         .         .         .       g.313091
 tgcccttgctgcccgcgggagacagcttctctgcagtaaaacacatttgggatgttcctt       c.*180

          .         .         .         .         .         .       g.313151
 ttttcaatatgcaagcagctttttattccctgcccaaacccttaactgacatgggccttt       c.*240

          .         .         .         .         .         .       g.313211
 aagaaccttaatgacaacacttaatagcaacagagcacttgagaaccagtctcctcactc       c.*300

          .         .         .         .         .         .       g.313271
 tgtccctgtccttccctgttctccctttctctctcctctctgcttcataacggaaaaata       c.*360

          .         .         .         .         .         .       g.313331
 attgccacaagtccagctgggaagccctttttatcagtttgaggaagtggctgtccctgt       c.*420

          .         .         .         .         .         .       g.313391
 ggccccatccaaccactgtacacacccgcctgacaccgtgggtcattacaaaaaaacacg       c.*480

          .         .         .         .         .         .       g.313451
 tggagatggaaatttttacctttatctttcacctttctagggacatgaaatttacaaagg       c.*540

          .         .         .         .         .         .       g.313511
 gccatcgttcatccaaggctgttaccattttaacgctgcctaattttgccaaaatcctga       c.*600

          .         .         .         .         .         .       g.313571
 actttctccctcatcggcccggcgctgattcctcgtgtccggaggcatgggtgagcatgg       c.*660

          .         .         .         .         .         .       g.313631
 cagctggttgctccatttgagagacacgctggcgacacactccgtccatccgactgcccc       c.*720

          .         .         .         .         .         .       g.313691
 tgctgtgctgctcaaggccacaggcacacaggtctcattgcttctgactagattattatt       c.*780

          .         .         .         .         .         .       g.313751
 tgggggaactggacacaataggtctttctctcagtgaaggtggggagaagctgaaccggc       c.*840

          .         .         .         .         .         .       g.313811
 ttccctgccctgcctccccagccccctgcccaacccccaagaatctggtggccatgggcc       c.*900

          .         .         .         .         .         .       g.313871
 ccgaagcagcctggcggacaggcttggagtcaaggggccccatgcctgcttctctcccag       c.*960

          .         .         .         .         .         .       g.313931
 ccccagctcccccgcccgcccccaaggacacagatgggaaggggtttccagggactcagc       c.*1020

          .         .         .         .         .         .       g.313991
 cccactgttgatgcaggtttgcaaggaaagaaattcaaacaccacaacagcagtaagaag       c.*1080

          .         .         .         .         .         .       g.314051
 aaaagcagtcaatggattcaagcattctaagctttgttgacattttctctgttcctagga       c.*1140

          .         .         .         .         .         .       g.314111
 cttcttcatgggtcttacagttctatgttagaccatgaaacatttgcatacacatcgtct       c.*1200

          .         .         .         .         .         .       g.314171
 ttaatgtcacttttataacttttttacggttcagatattcatctatacgtctgtacagaa       c.*1260

          .         .         .         .         .         .       g.314231
 aaaaaaaagctgctattttttttgttcttgatctttgtggatttaatctatgaaaacctt       c.*1320

          .         .         .         .         .         .       g.314291
 caggtccaccctctcccctttctgctcactccaagaaacttcttatgctttgtactagag       c.*1380

          .         .         .         .         .         .       g.314351
 tgcgtgactttcttcctcttttcccggtaatggatacttctatcacataatttgccatga       c.*1440

          .         .         .         .         .         .       g.314411
 actgttggatgcctttttataaatacatcccccatccctgctcccacctgcccctttagt       c.*1500

          .         .         .         .         .         .       g.314471
 tgttttctaacccgtaggctctctgggcacgaggcagaaagcaggccgggcacccatcct       c.*1560

          .         .         .         .         .         .       g.314531
 gagagggccgcgctcctctccccagcctgccctcacagcattggagcctgttacagtgca       c.*1620

          .         .         .         .         .         .       g.314591
 agacatgatacaaactcaggtcagaaaaacaaaggttaaatatttcacacgtctttgttc       c.*1680

          .         .         .         .         .         .       g.314651
 agtgtttccactcaccgtggttgagaagcctcaccctctctttcccttgcctttgcttag       c.*1740

          .         .         .         .         .         .       g.314711
 gttgtgacacacatatatatatatttttttaattcttgggtacaacagcagtgttaaccg       c.*1800

          .         .         .         .         .         .       g.314771
 cagacactaggcatttggattactatttttcttaatggctatttaatccttccatcccac       c.*1860

          .         .         .         .         .         .       g.314831
 gaaaaacagctgctgagtccaagggagcagcagagcgtggtccggcagggcctgttgtgg       c.*1920

          .         .         .         .         .         .       g.314891
 ccctcgccacccccctcaccggaccgactgacctgtctttggaaccagaacatcccaagg       c.*1980

          .         .         .         .         .         .       g.314951
 gaactccttcgcactggcgttgagtgggaccccgggatccaggctggcccagggcggcac       c.*2040

          .         .         .         .         .         .       g.315011
 cctcagggctgtgcccgctggagtgctaggtggaggcagcacagacgccacggtggccca       c.*2100

          .         .         .         .         .         .       g.315071
 agagcccctttgcttcttgctgggggaccagggctgtggtgctggcccactttccctcgg       c.*2160

          .         .         .         .         .         .       g.315131
 ccaggaatccaggtccttggggcccaggggtcttgtcttgtttcatttttagcacttctc       c.*2220

          .         .         .         .         .         .       g.315191
 accagagagatgacagcacaagagttgcttctgggatagaaatgtttaggagtaagaaca       c.*2280

          .         .         .         .         .         .       g.315251
 aagctgggatacggtgattgctagttgtgactgaagattcaacacagaaaagaaagttta       c.*2340

          .         .         .         .         .         .       g.315311
 tacggcttttttgctggtcagcagtttgtcccactgctttctctagtctctatcccatag       c.*2400

          .         .         .         .         .         .       g.315371
 cgtgttccctttaaaaaaaaaaaaaaggtattatatgtaggagttttcttttaatttatt       c.*2460

          .         .         .         .         .         .       g.315431
 ttgtgataaattaccagtttcaatcactgtagaaaagccccattatgaatttaaatttca       c.*2520

          .         .         .         .         .         .       g.315491
 aggaaagggtgtgtgtgtgtgtatgtgtggggtgtgtgtgtgtgagagtgatgggacagt       c.*2580

          .         .         .         .         .         .       g.315551
 tcttgattttttgggttttttttcccccaaacatttatctacctcactcttattttttat       c.*2640

          .         .         .         .         .         .       g.315611
 atgtgtatatagacaaaagaatacatctcacctttctcagcacctgacaataggccgttg       c.*2700

          .         .         .         .         .         .       g.315671
 atactggtaacctcatccacgccacaggcgccacacccaggtgatgcagggggaagccag       c.*2760

          .         .         .         .         .         .       g.315731
 gctgtattccggggtcaaagcaacactaactcacctctctgctcatttcagacagcttgc       c.*2820

          .         .         .         .         .         .       g.315791
 ctttttctgagatgtcctgttttgtgttgctttttttgttttgttttctatcttggtttc       c.*2880

          .         .         .         .         .         .       g.315851
 caccaaggtgttagatttctcctcctcctagccaggtggccctgtgaggccaacgagggc       c.*2940

          .         .         .         .         .         .       g.315911
 accagagcacacctgggggagccaccaggctgtccctggctggttgtctttggaacaaac       c.*3000

          .         .         .         .         .         .       g.315971
 tgcttctgtgcagatggaatgaccaacacatttcgtccttaagagagcagtggttcctca       c.*3060

          .         .         .         .         .         .       g.316031
 ggttctgaggagaggaaggtgtccaggcagcaccatctctgtgcgaatccccagggtaaa       c.*3120

          .         .         .         .         .         .       g.316091
 ggcgtggggcattgggtttgctccccttgctgctgctccatccctgcaggaggctcgcgc       c.*3180

          .         .         .         .         .         .       g.316151
 tgaggcaggaccgtgcggccatggctgctgcattcattgagcacaaaggtgcagctgcag       c.*3240

          .         .         .         .         .         .       g.316211
 cagcagctggagagcaagagtcacccagcctgtgcgccagaatgcagaggctcctgacct       c.*3300

          .         .         .         .         .         .       g.316271
 cacagccagtccctgatagaacacacgcaggagcagagtcccctccccctccaggctgcc       c.*3360

          .         .         .         .         .         .       g.316331
 ctctcaacttctccctcacctccttccctaggggtagacagagatgtaccaaaccttccg       c.*3420

          .         .         .         .         .         .       g.316391
 gctggaaagcccagtggccggcgccgaggctcgtggcgtcacgccccccccgccagggct       c.*3480

          .         .         .         .         .         .       g.316451
 gtacctccgtctccctggtcctgctgctcacaggacagacggctcgctcccctcttccag       c.*3540

          .         .         .         .         .         .       g.316511
 cagctgctcttacaggcactgatgatttcgctgggaagtgtggcgggcagctttgcctaa       c.*3600

          .         .         .         .         .         .       g.316571
 gcgtggatggctcctcggcaattccagcctaagtgaaggcgctcaggagcctcctgctgg       c.*3660

          .         .         .         .         .         .       g.316631
 aacgcgacccatctctcccaggaccccggggatcttaaggtcattgagaaatactgttgg       c.*3720

          .         .         .         .         .         .       g.316691
 atcagggttttgttcttccacactgtaggtgaccccttggaataacggcctctcctctcg       c.*3780

          .         .         .         .         .         .       g.316751
 tgcacatacctaccggtttccacaactggatttctacagatcattcagctggttataagg       c.*3840

          .         .         .         .         .         .       g.316811
 gttttgtttaaactgtccgagttactgatgtcattttgtttttgttttatgtaggtagct       c.*3900

          .         .         .         .         .         .       g.316871
 tttaagtagaaaacactaacagtgtagtgcccatcatagcaaatgcttcagaaacacctc       c.*3960

          .         .         .         .         .         .       g.316931
 aataaaagagaaaacttggcttgtgtgatggtgcagtcactttactggaccaacccaccc       c.*4020

          .         .         .         .         .         .       g.316991
 accttgactataccaaggcatcatctatccacagttctagcctaacttcatgctgatttc       c.*4080

          .         .         .         .         .         .       g.317051
 tctgcctcttgatttttctctgtgtgttccaaataatcttaagctgagttgtggcatttt       c.*4140

          .         .         .         .         .         .       g.317111
 ccatgcaacctccttctgccagcagctcacactgcttgaagtcatatgaaccactgaggc       c.*4200

          .         .         .         .         .         .       g.317171
 acatcatggaattgatgtgagcattaagacgttctcccacacagcccttccctgaggcag       c.*4260

          .         .         .         .         .         .       g.317231
 caggagctggtgtgtactggagacactgttgaacttgatcaagacccagaccaccccagg       c.*4320

          .         .         .         .         .         .       g.317291
 tctccttcgtgggatgtcatgacgtttgacatacctttggaacgagcctcctccttggaa       c.*4380

          .         .         .         .         .         .       g.317351
 gatggaagaccgtgttcgtggccgacctggcctctcctggcctgtttcttaagatgcgga       c.*4440

          .         .         .         .         .         .       g.317411
 gtcacatttcaatggtacgaaaagtggcttcgtaaaatagaagagcagtcactgtggaac       c.*4500

          .         .         .         .         .         .       g.317471
 taccaaatggcgagatgctcggtgcacattggggtgctttgggataaaagatttatgagc       c.*4560

          .         .         .         .         .         .       g.317531
 caactattctctggcaccagattctaggccagtttgttccactgaagcttttcccacagc       c.*4620

          .         .         .         .         .         .       g.317591
 agtccacctctgcaggctggcagccgaatggcttgccagtggctctgtggcaagatcaca       c.*4680

          .         .         .         .         .         .       g.317651
 ctgagatcgatgggtgagaaggctaggatgcttgtctagtgttcttagctgtcacgttgg       c.*4740

          .         .         .         .         .         .       g.317711
 ctccttccagggtggccagacggtgttggccactcccttctaaaacacaggcgccctcct       c.*4800

          .         .         .         .         .         .       g.317771
 ggtgacagtgacccgccgtggtatgccttggcccattccagcagtcccagttatgcattt       c.*4860

          .         .         .         .         .         .       g.317831
 caagtttggggtttgttcttttcgttaatgttcctctgtgttgtcagctgtcttcatttc       c.*4920

          .         .         .         .         .         .       g.317891
 ctgggctaagcagcattgggagatgtggaccagagatccactccttaagaaccagtggcg       c.*4980

          .         .         .         .         .         .       g.317951
 aaagacactttctttcttcactctgaagtagctggtggtacaaatgagaacttcaagaga       c.*5040

          .         .         .         .         .         .       g.318011
 ggatgttatttagactgaacctctgttgccagagatgctgaagatacagaccttggacag       c.*5100

          .         .         .         .         .         .       g.318071
 gtcagagggtttcatttttggccttcatcttagatgactggttgcgtcatttggagaagt       c.*5160

          .         .         .         .         .         .       g.318131
 gagtgctccttgatggtggaatgaccgggtggtgggtacagaaccattgtcacagggatc       c.*5220

          .         .         .         .         .         .       g.318191
 ctggcacagagaagagttacgagcagcagggtgcagggcttggaaggaatgtgggcaagg       c.*5280

          .         .         .         .         .         .       g.318251
 ttttgaacttgattgttcttgaagctatcagaccacatcgaggctcagcagtcatccgtg       c.*5340

          .         .         .         .         .         .       g.318311
 ggcatttggtttcaacaaagaaacctaacatcctactctggaaactgatctcggagttaa       c.*5400

          .         .         .         .         .         .       g.318371
 ggcgaattgttcaagaacacaaactacatcgcactcgtcagttgtcagttctggggcatg       c.*5460

          .         .         .         .         .         .       g.318431
 actttagcgttttgtttctgcgagaacataacgatcactcatttttatgtcccacgtgtg       c.*5520

          .         .         .         .         .         .       g.318491
 tgtgtccgcatctttctggtcaacattgttttaactagtcactcattagcgttttcaata       c.*5580

          .         .         .         .         .         .       g.318551
 gggctcttaagtccagtagattacgggtagtcagttgacgaagatctggtttacaagaac       c.*5640

          .         .         .         .         .         .       g.318611
 taattaaatgtttcattgcatttttgtaagaacagaataattttataaaatgtttgtagt       c.*5700

          .         .         .         .         .         .       g.318671
 ttataattgccgaaaataatttaaagacactttttttttctctgtgtgtgcaaatgtgtg       c.*5760

          .         .         .         .         .         .       g.318731
 tttgtgatccattttttttttttttttttaggacacctgtttactagctagctttacaat       c.*5820

          .         .         .         .         .         .       g.318791
 atgccaaaaaaggatttctccctgaccccatccgtggttcaccctcttttccccccatgc       c.*5880

          .         .         .         .         .         .       g.318851
 tttttgccctagtttataacaaaggaatgatgatgatttaaaaagtagttctgtatcttc       c.*5940

          .         .         .         .         .         .       g.318911
 agtatcttggtcttccagaaccctctggttgggaaggggatcattttttactggtcattt       c.*6000

          .         .         .         .         .         .       g.318971
 ccctttggagtgtagctactttaacagatggaaagaacctcattggccatggaaacagcc       c.*6060

          .         .         .         .         .         .       g.319031
 gaggtgttggagcccagcagtgcatggcaccgttcggcatctggcttgattggtctggct       c.*6120

          .         .         .         .         .         .       g.319091
 gccgtcattgtcagcacagtgccatggacatgggaagacttgactgcacagccaatggtt       c.*6180

          .         .         .         .         .         .       g.319151
 ttcatgatgattacagcatacacagtgatcacataaacgatgacagctatggggcacaca       c.*6240

          .         .         .         .         .         .       g.319211
 ggccatttgcttacatgcctcgtatcatgactgattactgctttgttagaacacagaaga       c.*6300

          .         .         .         .         .         .       g.319271
 gaccctattttatttaaggcagaaccccgaagatacgtatttccaatacagaaaagaatt       c.*6360

          .         .         .         .         .         .       g.319331
 tttaataaaaactataacatacacaaaaattggttttaaagttgactccacttcctctaa       c.*6420

          .         .         .         .         .         .       g.319391
 ctccagtggattgttggccatgtctccccaactccacaatatctctatcatgggaaacac       c.*6480

          .         .         .         .         .         .       g.319451
 ctggggtttttgcgctacataggagaaagatctggaaactatttgggttttgttttcaac       c.*6540

          .         .         .         .         .         .       g.319511
 ttttcatttggatgtttggcgttgcacacacacatccaccggtggaagagacgcccggtg       c.*6600

          .         .         .         .         .         .       g.319571
 aaaacacctgtctgctttctaagccagtgaggttgaggtgagaggtttgccagagtttgt       c.*6660

          .         .         .         .         .         .       g.319631
 ctacctctgggtatccctttgtctgggataaaaaaaatcaaaccagaaggcgggatggaa       c.*6720

          .         .         .         .         .         .       g.319691
 tggatgcaccgcaaataatgcattttctgagttttcttgttaaaaaaaaatttttttaag       c.*6780

          .         .         .         .         .         .       g.319751
 taagaaaaaaaaaggtaataacatggccaatttgttacataaaatgactttctgtgtata       c.*6840

          .         .         .         .         .         .       g.319811
 aattattcctaaaaaatcctgtttatataaaaaatcagtagatgaaaaaaatttcaaaat       c.*6900

          .         .         .         .         .         .       g.319871
 gtttttgtatattctgttgtaagaatttattcctgttattgcgatatactctggattctt       c.*6960

          .         .         .         .         .         .       g.319931
 tacataatggaaaaaagaaactgtctattttgaatggctgaagctaaggcaacgttagtt       c.*7020

          .         .         .         .         .         .       g.319991
 tctcttactctgcttttttctagtaaagtactacatggtttaagttaaataaaataattc       c.*7080

                                                                    g.319999
 tgtatgca                                                           c.*7088

 (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-like growth factor 1 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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