GLI family zinc finger 3 (GLI3) - coding DNA reference sequence

(used for variant description)

(last modified April 4, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_000168.5 in the GLI3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000007.13, covering GLI3 transcript NM_000168.5.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5031
                              ccgcgggtctatgggaagttcggggacttga       c.-61

 .         .        | 02.         .         .         .             g.18766
 cagccgctgccgccgcag | ggcatttttggtcgaagagagctgaagtaatgagaagacatc    c.-1

          .         .         .         .         .         .       g.18826
 ATGGAGGCCCAGTCCCACAGCTCCACGACCACTGAAAAGAAAAAAGTTGAGAATTCCATA       c.60
 M  E  A  Q  S  H  S  S  T  T  T  E  K  K  K  V  E  N  S  I         p.20

          .         .         .         .         .         .       g.18886
 GTGAAGTGCTCCACTCGAACAGATGTGAGCGAGAAAGCCGTTGCCTCCAGCACCACTTCT       c.120
 V  K  C  S  T  R  T  D  V  S  E  K  A  V  A  S  S  T  T  S         p.40

      | 03   .         .         .         .         .         .    g.93607
 AATG | AGGATGAAAGTCCTGGACAGACTTATCACAGAGAGAGAAGAAACGCAATCACTATG    c.180
 N  E |   D  E  S  P  G  Q  T  Y  H  R  E  R  R  N  A  I  T  M      p.60

          .         .         .         .         .         .       g.93667
 CAGCCACAGAATGTCCAGGGGCTCAGCAAAGTCAGTGAGGAACCTTCAACATCGAGTGAC       c.240
 Q  P  Q  N  V  Q  G  L  S  K  V  S  E  E  P  S  T  S  S  D         p.80

          .         .         .         .         .         .       g.93727
 GAGAGGGCCTCATTGATCAAGAAAGAGATCCATGGGTCCCTGCCACACGTGGCGGAGCCC       c.300
 E  R  A  S  L  I  K  K  E  I  H  G  S  L  P  H  V  A  E  P         p.100

          .         .         .         .         .         .       g.93787
 TCTGTGCCGTACCGCGGGACGGTGTTTGCCATGGACCCCAGGAATGGTTACATGGAGCCC       c.360
 S  V  P  Y  R  G  T  V  F  A  M  D  P  R  N  G  Y  M  E  P         p.120

         | 04.         .         .         .         .         .    g.165215
 CACTACC | ACCCTCCTCATCTTTTCCCTGCCTTCCATCCTCCTGTACCAATTGATGCCAGA    c.420
 H  Y  H |   P  P  H  L  F  P  A  F  H  P  P  V  P  I  D  A  R      p.140

          .         .         .         .         .    | 05    .    g.193330
 CATCATGAGGGCCGTTACCATTACGATCCATCTCCGATTCCTCCATTGCATAT | GACTTCC    c.480
 H  H  E  G  R  Y  H  Y  D  P  S  P  I  P  P  L  H  M  |  T  S      p.160

          .         .         .         .         .         .       g.193390
 GCCTTATCTAGTAGCCCTACGTATCCGGACCTGCCCTTCATTAGGATCTCCCCACACCGG       c.540
 A  L  S  S  S  P  T  Y  P  D  L  P  F  I  R  I  S  P  H  R         p.180

          .         .         .         .         .         .       g.193450
 AACCCCACTGCTGCTTCCGAGTCTCCCTTCAGCCCTCCACATCCCTACATTAATCCCTAC       c.600
 N  P  T  A  A  S  E  S  P  F  S  P  P  H  P  Y  I  N  P  Y         p.200

          .         .         .         .         .         .       g.193510
 ATGGACTATATCCGCTCCTTGCACAGCAGCCCATCGCTCTCCATGATCTCAGCAACCCGT       c.660
 M  D  Y  I  R  S  L  H  S  S  P  S  L  S  M  I  S  A  T  R         p.220

          .          | 06        .         .         .         .    g.196530
 GGGCTGAGCCCTACAGATG | CGCCCCATGCAGGAGTCAGCCCAGCAGAATACTATCATCAG    c.720
 G  L  S  P  T  D  A |   P  H  A  G  V  S  P  A  E  Y  Y  H  Q      p.240

          .         .         .         .         .         .       g.196590
 ATGGCCCTGCTAACTGGCCAGCGCAGCCCCTATGCAGACATTATTCCCTCAGCTGCCACC       c.780
 M  A  L  L  T  G  Q  R  S  P  Y  A  D  I  I  P  S  A  A  T         p.260

          .         .         .         .       | 07 .         .    g.201794
 GCCGGCACGGGGGCCATCCACATGGAATATCTTCATGCTATGGATA | GCACCAGATTCTCC    c.840
 A  G  T  G  A  I  H  M  E  Y  L  H  A  M  D  S |   T  R  F  S      p.280

          .         .         .         .         .         .       g.201854
 AGCCCCAGGCTGTCAGCCAGGCCGAGCCGAAAACGTACACTGTCCATATCACCACTCTCC       c.900
 S  P  R  L  S  A  R  P  S  R  K  R  T  L  S  I  S  P  L  S         p.300

          .         .         .         .         .         .       g.201914
 GATCATAGCTTTGACCTTCAGACCATGATAAGGACGTCTCCCAACTCCTTGGTCACGATT       c.960
 D  H  S  F  D  L  Q  T  M  I  R  T  S  P  N  S  L  V  T  I         p.320

          .         .         .         .         .         .       g.201974
 CTCAATAATTCCCGTAGCAGCTCTTCAGCAAGTGGCTCCTATGGTCACTTATCTGCAAGT       c.1020
 L  N  N  S  R  S  S  S  S  A  S  G  S  Y  G  H  L  S  A  S         p.340

          | 08         .         .         .         .         .    g.215659
 GCAATCAG | CCCTGCCTTGAGCTTCACCTACTCTTCCGCGCCCGTCTCTCTCCACATGCAT    c.1080
 A  I  S  |  P  A  L  S  F  T  Y  S  S  A  P  V  S  L  H  M  H      p.360

          .         .         .         .         .         .       g.215719
 CAGCAGATCCTAAGCCGACAACAGAGCTTAGGTTCAGCCTTTGGACACAGCCCTCCACTC       c.1140
 Q  Q  I  L  S  R  Q  Q  S  L  G  S  A  F  G  H  S  P  P  L         p.380

          .         .         .         .         .         .       g.215779
 ATCCACCCTGCCCCAACTTTTCCAACACAGAGGCCTATTCCAGGGATCCCTACGGTTCTG       c.1200
 I  H  P  A  P  T  F  P  T  Q  R  P  I  P  G  I  P  T  V  L         p.400

          .         .         .         .   | 09     .         .    g.216660
 AACCCCGTCCAGGTCAGCTCCGGCCCTTCTGAGTCCTCACAG | AACAAGCCCACGAGTGAG    c.1260
 N  P  V  Q  V  S  S  G  P  S  E  S  S  Q   | N  K  P  T  S  E      p.420

          .         .         .         .         .         .       g.216720
 TCTGCAGTGAGCAGCACTGGTGACCCGATGCACAACAAGAGGTCCAAGATCAAACCCGAT       c.1320
 S  A  V  S  S  T  G  D  P  M  H  N  K  R  S  K  I  K  P  D         p.440

          .         .         .       | 10 .         .         .    g.218435
 GAAGACCTCCCCAGCCCAGGGGCTCGGGGGCAGCAG | GAACAGCCCGAAGGAACAACCCTT    c.1380
 E  D  L  P  S  P  G  A  R  G  Q  Q   | E  Q  P  E  G  T  T  L      p.460

          .         .         .         .         .         .       g.218495
 GTCAAGGAGGAAGGGGACAAAGATGAAAGCAAACAGGAGCCTGAAGTCATCTATGAGACA       c.1440
 V  K  E  E  G  D  K  D  E  S  K  Q  E  P  E  V  I  Y  E  T         p.480

          .         .         .         .         .        | 11.    g.263274
 AACTGCCACTGGGAAGGCTGCGCGAGGGAGTTCGACACCCAAGAGCAGCTTGTGCAC | CAT    c.1500
 N  C  H  W  E  G  C  A  R  E  F  D  T  Q  E  Q  L  V  H   | H      p.500

          .         .         .         .         .         .       g.263334
 ATAAATAACGACCATATTCATGGAGAGAAGAAGGAGTTCGTGTGCAGGTGGCTGGACTGC       c.1560
 I  N  N  D  H  I  H  G  E  K  K  E  F  V  C  R  W  L  D  C         p.520

          .         .         .         .         .         .       g.263394
 TCAAGAGAGCAGAAACCCTTCAAAGCCCAGTATATGTTGGTAGTGCATATGAGAAGACAC       c.1620
 S  R  E  Q  K  P  F  K  A  Q  Y  M  L  V  V  H  M  R  R  H         p.540

          .         .        | 12.         .         .         .    g.264330
 ACGGGCGAGAAGCCTCACAAATGCACT | TTTGAAGGTTGCACAAAGGCCTACTCGAGACTA    c.1680
 T  G  E  K  P  H  K  C  T   | F  E  G  C  T  K  A  Y  S  R  L      p.560

          .         .         .         .         .         .       g.264390
 GAAAACTTGAAAACACACTTGAGATCTCACACTGGAGAGAAACCATACGTCTGTGAGCAC       c.1740
 E  N  L  K  T  H  L  R  S  H  T  G  E  K  P  Y  V  C  E  H         p.580

          .         .         .         .         .         .       g.264450
 GAAGGTTGCAACAAGGCTTTCTCAAATGCCTCTGATCGCGCCAAACACCAAAACAGAACG       c.1800
 E  G  C  N  K  A  F  S  N  A  S  D  R  A  K  H  Q  N  R  T         p.600

          .   | 13     .         .         .         .         .    g.269440
 CATTCCAATGAG | AAACCATATGTGTGCAAAATCCCAGGCTGCACTAAGCGTTACACAGAC    c.1860
 H  S  N  E   | K  P  Y  V  C  K  I  P  G  C  T  K  R  Y  T  D      p.620

          .         .         .         .         .         .       g.269500
 CCAAGCTCCCTCCGGAAACATGTGAAGACAGTGCATGGCCCAGAGGCTCATGTCACCAAG       c.1920
 P  S  S  L  R  K  H  V  K  T  V  H  G  P  E  A  H  V  T  K         p.640

          .         .         .         .         .         .       g.269560
 AAGCAGCGAGGGGACATCCATCCTCGGCCGCCACCCCCGAGAGATTCCGGCAGCCATTCA       c.1980
 K  Q  R  G  D  I  H  P  R  P  P  P  P  R  D  S  G  S  H  S         p.660

          .         .         .         .         .         .       g.269620
 CAGTCCAGGTCGCCTGGCCGACCGACTCAGGGAGCCCTTGGTGAGCAGCAGGACCTCAGC       c.2040
 Q  S  R  S  P  G  R  P  T  Q  G  A  L  G  E  Q  Q  D  L  S         p.680

          .         .         .         .         .         .       g.269680
 AACACTACCTCAAAGCGGGAAGAATGCCTCCAGGTGAAAACCGTCAAGGCAGAGAAGCCA       c.2100
 N  T  T  S  K  R  E  E  C  L  Q  V  K  T  V  K  A  E  K  P         p.700

     | 14    .         .         .         .         .         .    g.274154
 ATG | ACATCTCAGCCAAGCCCTGGTGGTCAGTCTTCATGCAGCAGCCAACAGTCCCCCATC    c.2160
 M   | T  S  Q  P  S  P  G  G  Q  S  S  C  S  S  Q  Q  S  P  I      p.720

          .         .         .         .         .         .       g.274214
 AGCAACTATTCCAACAGTGGGCTCGAGCTTCCTCTGACCGATGGAGGTAGTATAGGAGAC       c.2220
 S  N  Y  S  N  S  G  L  E  L  P  L  T  D  G  G  S  I  G  D         p.740

          .         .         .         .         .         .       g.274274
 CTCAGTGCCATCGATGAAACCCCAATCATGGACTCAACCATTTCCACTGCAACCACAGCC       c.2280
 L  S  A  I  D  E  T  P  I  M  D  S  T  I  S  T  A  T  T  A         p.760

          .         .         .         .         .         .       g.274334
 CTTGCTTTGCAAGCCAGGAGAAACCCGGCAGGGACCAAATGGATGGAGCACGTAAAACTA       c.2340
 L  A  L  Q  A  R  R  N  P  A  G  T  K  W  M  E  H  V  K  L         p.780

          .         .         .         .         .         .       g.274394
 GAAAGGCTAAAACAAGTGAATGGAATGTTTCCGCGACTGAACCCCATTCTACCCCCTAAA       c.2400
 E  R  L  K  Q  V  N  G  M  F  P  R  L  N  P  I  L  P  P  K         p.800

          .         .         .  | 15      .         .         .    g.275408
 GCCCCTGCGGTCTCTCCTCTCATAGGAAATG | GCACACAGTCCAACAACACCTGCAGCTTG    c.2460
 A  P  A  V  S  P  L  I  G  N  G |   T  Q  S  N  N  T  C  S  L      p.820

          .         .         .         .         .         .       g.275468
 GGTGGGCCCATGACGCTTCTCCCGGGCAGAAGCGACCTCTCTGGGGTGGACGTCACTATG       c.2520
 G  G  P  M  T  L  L  P  G  R  S  D  L  S  G  V  D  V  T  M         p.840

          .         .         .         .         .         .       g.275528
 CTGAACATGCTCAACAGAAGGGACAGCAGCGCCAGCACCATCAGCTCGGCCTACCTGAGC       c.2580
 L  N  M  L  N  R  R  D  S  S  A  S  T  I  S  S  A  Y  L  S         p.860

          .         .         .         .         .         .       g.275588
 AGCCGCCGCTCCTCAGGGATCTCGCCCTGCTTCTCCAGCCGCCGCTCCAGCGAGGCGTCA       c.2640
 S  R  R  S  S  G  I  S  P  C  F  S  S  R  R  S  S  E  A  S         p.880

          .         .         .         .         .         .       g.275648
 CAGGCCGAGGGCCGGCCGCAGAACGTGAGCGTGGCCGACTCCTACGACCCCATCTCCACC       c.2700
 Q  A  E  G  R  P  Q  N  V  S  V  A  D  S  Y  D  P  I  S  T         p.900

          .         .         .         .         .         .       g.275708
 GACGCCTCGCGCCGCTCCAGCGAAGCCAGCCAGAGCGACGGCCTGCCCAGCCTGCTCAGC       c.2760
 D  A  S  R  R  S  S  E  A  S  Q  S  D  G  L  P  S  L  L  S         p.920

          .         .         .         .         .         .       g.275768
 CTCACGCCCGCCCAGCAGTACCGCCTCAAGGCCAAGTACGCGGCTGCCACAGGAGGGCCG       c.2820
 L  T  P  A  Q  Q  Y  R  L  K  A  K  Y  A  A  A  T  G  G  P         p.940

          .         .         .         .         .         .       g.275828
 CCGCCGACGCCCCTGCCCAACATGGAGAGGATGAGCCTGAAGACGCGCCTGGCGCTGCTC       c.2880
 P  P  T  P  L  P  N  M  E  R  M  S  L  K  T  R  L  A  L  L         p.960

          .         .         .         .         .         .       g.275888
 GGGGATGCCCTCGAGCCTGGCGTGGCCCTGCCTCCAGTTCATGCCCCGAGGAGGTGCAGC       c.2940
 G  D  A  L  E  P  G  V  A  L  P  P  V  H  A  P  R  R  C  S         p.980

          .         .         .         .         .         .       g.275948
 GACGGGGGAGCCCACGGCTACGGGCGGCGCCACCTGCAGCCGCACGATGCGCCGGGCCAC       c.3000
 D  G  G  A  H  G  Y  G  R  R  H  L  Q  P  H  D  A  P  G  H         p.1000

          .         .         .         .         .         .       g.276008
 GGCGTGAGGAGGGCCAGCGACCCGGTGCGGACAGGCTCCGAGGGCCTGGCCCTGCCTCGT       c.3060
 G  V  R  R  A  S  D  P  V  R  T  G  S  E  G  L  A  L  P  R         p.1020

          .         .         .         .         .         .       g.276068
 GTGCCGCGCTTCAGCAGCCTCAGCAGCTGCAACCCCCCGGCGATGGCCACGTCCGCGGAG       c.3120
 V  P  R  F  S  S  L  S  S  C  N  P  P  A  M  A  T  S  A  E         p.1040

          .         .         .         .         .         .       g.276128
 AAGCGCAGTCTCGTGCTTCAGAATTACACGCGGCCCGAGGGCGGCCAGTCCCGAAACTTC       c.3180
 K  R  S  L  V  L  Q  N  Y  T  R  P  E  G  G  Q  S  R  N  F         p.1060

          .         .         .         .         .         .       g.276188
 CACTCGTCCCCCTGTCCTCCCAGCATCACCGAGAACGTCACCCTGGAGTCCCTGACCATG       c.3240
 H  S  S  P  C  P  P  S  I  T  E  N  V  T  L  E  S  L  T  M         p.1080

          .         .         .         .         .         .       g.276248
 GACGCTGATGCCAACCTGAACGATGAGGATTTCCTGCCGGACGACGTGGTGCAGTATTTA       c.3300
 D  A  D  A  N  L  N  D  E  D  F  L  P  D  D  V  V  Q  Y  L         p.1100

          .         .         .         .         .         .       g.276308
 AATTCCCAGAACCAAGCAGGGTACGAGCAGCACTTCCCCAGCGCCCTCCCGGACGACAGC       c.3360
 N  S  Q  N  Q  A  G  Y  E  Q  H  F  P  S  A  L  P  D  D  S         p.1120

          .         .         .         .         .         .       g.276368
 AAAGTGCCCCACGGGCCCGGTGACTTTGACGCGCCCGGGCTGCCAGACAGCCACGCTGGC       c.3420
 K  V  P  H  G  P  G  D  F  D  A  P  G  L  P  D  S  H  A  G         p.1140

          .         .         .         .         .         .       g.276428
 CAGCAGTTCCATGCCCTCGAGCAGCCCTGCCCCGAGGGCAGCAAAACCGACCTGCCCATT       c.3480
 Q  Q  F  H  A  L  E  Q  P  C  P  E  G  S  K  T  D  L  P  I         p.1160

          .         .         .         .         .         .       g.276488
 CAGTGGAACGAAGTCAGCTCCGGAAGCGCCGACCTGTCCTCCTCCAAGCTCAAGTGTGGG       c.3540
 Q  W  N  E  V  S  S  G  S  A  D  L  S  S  S  K  L  K  C  G         p.1180

          .         .         .         .         .         .       g.276548
 CCGCGGCCCGCTGTGCCGCAGACTCGCGCCTTTGGGTTCTGCAACGGCATGGTCGTCCAC       c.3600
 P  R  P  A  V  P  Q  T  R  A  F  G  F  C  N  G  M  V  V  H         p.1200

          .         .         .         .         .         .       g.276608
 CCGCAGAACCCCTTGAGGAGCGGGCCTGCTGGGGGCTATCAGACCCTCGGGGAGAACAGC       c.3660
 P  Q  N  P  L  R  S  G  P  A  G  G  Y  Q  T  L  G  E  N  S         p.1220

          .         .         .         .         .         .       g.276668
 AACCCCTACGGTGGCCCAGAGCACTTGATGCTCCACAACAGCCCCGGAAGTGGCACCAGT       c.3720
 N  P  Y  G  G  P  E  H  L  M  L  H  N  S  P  G  S  G  T  S         p.1240

          .         .         .         .         .         .       g.276728
 GGAAACGCCTTCCATGAACAGCCCTGTAAGGCCCCGCAGTATGGGAACTGTCTCAACAGG       c.3780
 G  N  A  F  H  E  Q  P  C  K  A  P  Q  Y  G  N  C  L  N  R         p.1260

          .         .         .         .         .         .       g.276788
 CAGCCAGTGGCCCCTGGTGCACTCGACGGTGCCTGTGGTGCCGGGATTCAAGCCTCAAAG       c.3840
 Q  P  V  A  P  G  A  L  D  G  A  C  G  A  G  I  Q  A  S  K         p.1280

          .         .         .         .         .         .       g.276848
 CTGAAGAGCACCCCCATGCAAGGGAGCGGGGGCCAGCTGAATTTCGGCCTGCCGGTAGCG       c.3900
 L  K  S  T  P  M  Q  G  S  G  G  Q  L  N  F  G  L  P  V  A         p.1300

          .         .         .         .         .         .       g.276908
 CCAAATGAGTCAGCTGGCAGCATGGTGAATGGCATGCAGAACCAGGACCCAGTGGGACAG       c.3960
 P  N  E  S  A  G  S  M  V  N  G  M  Q  N  Q  D  P  V  G  Q         p.1320

          .         .         .         .         .         .       g.276968
 GGGTACCTGGCTCACCAGCTCCTCGGCGACAGCATGCAGCACCCGGGGGCAGGCCGCCCC       c.4020
 G  Y  L  A  H  Q  L  L  G  D  S  M  Q  H  P  G  A  G  R  P         p.1340

          .         .         .         .         .         .       g.277028
 GGTCAGCAGATGCTTGGGCAGATTAGTGCTACCTCACACATCAACATCTACCAAGGGCCA       c.4080
 G  Q  Q  M  L  G  Q  I  S  A  T  S  H  I  N  I  Y  Q  G  P         p.1360

          .         .         .         .         .         .       g.277088
 GAGAGCTGCCTGCCAGGGGCTCACGGCATGGGCAGCCAGCCGTCAAGCTTGGCAGTTGTC       c.4140
 E  S  C  L  P  G  A  H  G  M  G  S  Q  P  S  S  L  A  V  V         p.1380

          .         .         .         .         .         .       g.277148
 AGGGGCTACCAGCCATGTGCCAGCTTTGGGGGCAGCAGGCGCCAGGCTATGCCGAGGGAC       c.4200
 R  G  Y  Q  P  C  A  S  F  G  G  S  R  R  Q  A  M  P  R  D         p.1400

          .         .         .         .         .         .       g.277208
 AGCCTTGCTCTGCAGTCAGGACAGCTCAGTGACACAAGTCAGACCTGCAGGGTGAATGGT       c.4260
 S  L  A  L  Q  S  G  Q  L  S  D  T  S  Q  T  C  R  V  N  G         p.1420

          .         .         .         .         .         .       g.277268
 ATCAAGATGGAGATGAAAGGGCAGCCCCATCCGCTGTGCTCTAATCTGCAGAATTACTCT       c.4320
 I  K  M  E  M  K  G  Q  P  H  P  L  C  S  N  L  Q  N  Y  S         p.1440

          .         .         .         .         .         .       g.277328
 GGTCAGTTCTATGACCAAACCGTGGGCTTCAGTCAGCAAGACACGAAAGCTGGTTCATTC       c.4380
 G  Q  F  Y  D  Q  T  V  G  F  S  Q  Q  D  T  K  A  G  S  F         p.1460

          .         .         .         .         .         .       g.277388
 TCTATTTCAGACGCCAGCTGCCTGCTACAGGGGACCAGCGCCAAAAACTCTGAGTTACTT       c.4440
 S  I  S  D  A  S  C  L  L  Q  G  T  S  A  K  N  S  E  L  L         p.1480

          .         .         .         .         .         .       g.277448
 TCCCCAGGTGCTAATCAGGTGACAAGCACAGTGGACAGCCTCGACAGCCATGACCTGGAA       c.4500
 S  P  G  A  N  Q  V  T  S  T  V  D  S  L  D  S  H  D  L  E         p.1500

          .         .         .         .         .         .       g.277508
 GGGGTACAGATTGACTTCGATGCCATCATAGACGATGGGGACCACTCCAGCCTGATGTCG       c.4560
 G  V  Q  I  D  F  D  A  I  I  D  D  G  D  H  S  S  L  M  S         p.1520

          .         .         .         .         .         .       g.277568
 GGGGCCCTGAGCCCAAGTATCATTCAGAACCTTTCCCATAGCTCCTCCCGCCTCACCACG       c.4620
 G  A  L  S  P  S  I  I  Q  N  L  S  H  S  S  S  R  L  T  T         p.1540

          .         .         .         .         .         .       g.277628
 CCTCGGGCGTCCCTCCCATTCCCAGCGCTGTCCATGAGCACCACCAACATGGCTATCGGG       c.4680
 P  R  A  S  L  P  F  P  A  L  S  M  S  T  T  N  M  A  I  G         p.1560

          .         .         .         .         .         .       g.277688
 GACATGAGTTCTTTGCTGACCTCCCTAGCGGAAGAAAGCAAATTCCTTGCAGTTATGCAA       c.4740
 D  M  S  S  L  L  T  S  L  A  E  E  S  K  F  L  A  V  M  Q         p.1580

                                                                    g.277691
 TAG                                                                c.4743
 X                                                                  p.1580

          .         .         .         .         .         .       g.277751
 gctttaggaaaaaaagactgcaaccaacggaaatcaataggagttgaagagattaaactg       c.*60

          .         .         .         .         .         .       g.277811
 actttgttttggctgtttttttagttctgtatgtattttagcaatctcatctcacctaac       c.*120

          .         .         .         .         .         .       g.277871
 tgagatgtgtttcaattatattccttttatggaaaaggactctgaaaaaccctaaagtat       c.*180

          .         .         .         .         .         .       g.277931
 tctagggagaaactgtcttccatttcagttttgaatcagtattgttacactcaaaccacc       c.*240

          .         .         .         .         .         .       g.277991
 ctctttttaaaaaaaaaaaaaaaaactgtaagccccgccccctttttagtaaaccgatgt       c.*300

          .         .         .         .         .         .       g.278051
 aaatttgtgatgtgcatattcttctttcttttagaagagcagtcaaattaaaggatttga       c.*360

          .         .         .         .         .         .       g.278111
 catgttttgctgttgctcaaaggaaataggagttggtgtgcttgtgaccaaggggttaca       c.*420

          .         .         .         .         .         .       g.278171
 cttccagcttttaaaattctcctttacatgtgctcagtgttttgttttgtgttttggttt       c.*480

          .         .         .         .         .         .       g.278231
 ctgttttttattttaattcccacattgggcacaagaatcagaatatggatagctagttta       c.*540

          .         .         .         .         .         .       g.278291
 agaaacttttgtgggtgcactgtagcatagatgacagaatattgatgttccccccatctc       c.*600

          .         .         .         .         .         .       g.278351
 caattcagttcagggcattccacagttaaacagaaatgggaacgtggggctcttataaat       c.*660

          .         .         .         .         .         .       g.278411
 gaaatgggcgctcacagttttggttttcagctcttcatgtctgtaagtgtgctttggggg       c.*720

          .         .         .         .         .         .       g.278471
 aggctatgtctgtatggtcgattctcagttatcacatttgcctctcctcccactaccttc       c.*780

          .         .         .         .         .         .       g.278531
 atgaacattcagtgctgtttcgcactgcagttagagagaagggacggacagttggtgaca       c.*840

          .         .         .         .         .         .       g.278591
 ctcagccacattgctacttttatctgttctggtaagaagttagatagatggtagattgaa       c.*900

          .         .         .         .         .         .       g.278651
 gcaattgggtagaattagttgggggaatatttatgagttgctgtgtttgttgattagttc       c.*960

          .         .         .         .         .         .       g.278711
 catctctttcccattttaactgagaattgattatatatagctctaagtatataggtattt       c.*1020

          .         .         .         .         .         .       g.278771
 aaacaaccccacaagcggctgtatcagtaacatttattaattccactatagtgagggagg       c.*1080

          .         .         .         .         .         .       g.278831
 atttccattctaaataccttattttgagggatttataaaacttagttgtaaaagagaaag       c.*1140

          .         .         .         .         .         .       g.278891
 cccacatagtgggaataaattgcttcagccatttttagtatttgagagcactagggaaga       c.*1200

          .         .         .         .         .         .       g.278951
 tgtttagtagctgtgtggatgccttttttcacaccctgtctattgaatgctgcatccatt       c.*1260

          .         .         .         .         .         .       g.279011
 cacgaagttaaatgttacatgcagttagtccttaatgtggactggatctgtacttttgtt       c.*1320

          .         .         .         .         .         .       g.279071
 ttggattaaaacatttaaagatttttgaagtgcagctactccccacgtgcatttgataca       c.*1380

          .         .         .         .         .         .       g.279131
 cataaaagtcatactgtgtgtgcacaaagagtacatggattttccagcatattgctttaa       c.*1440

          .         .         .         .         .         .       g.279191
 aaaattatataaactgttaaaatattaacacctcaggctacctgctgtattctgtcccat       c.*1500

          .         .         .         .         .         .       g.279251
 tgacccctggaattggatttactgcaagtgattgataattcaattatgtggcttttcccc       c.*1560

          .         .         .         .         .         .       g.279311
 tttaatcttgccatttaaattacagtagaaagacaaaatcaagtaaaataaagtgttaga       c.*1620

          .         .         .         .         .         .       g.279371
 taatagaaagagtgttaagaccagcccacttttctcatgtttatgttctttcatttggac       c.*1680

          .         .         .         .         .         .       g.279431
 caagaatctccgcatggaggttgatttgccactggggactttggctaagactattaggtt       c.*1740

          .         .         .         .         .         .       g.279491
 tgctttcaactagatgttcctgagacaagcagagggacactgcaattccccttccatgcc       c.*1800

          .         .         .         .         .         .       g.279551
 tgctgttctcccccatgtaagtcttctttgaaattaacggatgtgtctcctttggaacag       c.*1860

          .         .         .         .         .         .       g.279611
 ccccataacaaaagagaactactgatctgagcataggaaagtagaggctctaccactttt       c.*1920

          .         .         .         .         .         .       g.279671
 cagttgaaaaagcaagactttctctgtgtttctgaaacaaggcataatgttgtcacagaa       c.*1980

          .         .         .         .         .         .       g.279731
 tcagagatccagtctcacttttccacaaatctccaaatctccagtcttatcttgtgtgct       c.*2040

          .         .         .         .         .         .       g.279791
 ctaatggtttggttcaatccctttccaactcttgttttcaaagcatggggcctgagtgtt       c.*2100

          .         .         .         .         .         .       g.279851
 ctccactcctcctaagaaaggagcttgggtggaagggaccatgctgacctcctccatcag       c.*2160

          .         .         .         .         .         .       g.279911
 agggctcttccagtagtattctcggatgcaacctccatttctcagttaccattatttcct       c.*2220

          .         .         .         .         .         .       g.279971
 gtatcagctttgtccttcctggagggatgcacagtgatccggcccaccactgttgttgtc       c.*2280

          .         .         .         .         .         .       g.280031
 ttgtgcttctgctctttcctatggtttcaggttattttctgggtttcccctattcttctt       c.*2340

          .         .         .         .         .         .       g.280091
 ttatttctttttttttttatatttgctttcctttctactgcttttagatttgcaggagat       c.*2400

          .         .         .         .         .         .       g.280151
 gcaagtttcagctcaatgtttggcttctctcaatatggaaatttcagaaggacagaggag       c.*2460

          .         .         .         .         .         .       g.280211
 aggagggaggaagaagaaagtatactcctccagaatttcagtgatctgttgtggcagtcc       c.*2520

          .         .         .         .         .         .       g.280271
 agtggaaggaaggtcttttgaggtcacttagaagcatctttttgggacatccttttggga       c.*2580

          .         .         .         .         .         .       g.280331
 tctctgtaggctaggcatctcatatcttgagactcacccccagcctccaagcctctctcc       c.*2640

          .         .         .         .         .         .       g.280391
 atttctctaacctatgcattttagagcgagaggaccgcctcactagtgtcaccatcctgc       c.*2700

          .         .         .         .         .         .       g.280451
 cttttctaaaacatgcaggctcacacattctactcctgcttaatgtctgtgttaaacgtt       c.*2760

          .         .         .         .         .         .       g.280511
 ttctaaccatttttgttttatttttctgaaaaagttaacccctcccaactcctcacacat       c.*2820

          .         .         .         .         .         .       g.280571
 tggctcttcctcttgagccacaaagttttgattcttgcgatgtatgtgccttattttatg       c.*2880

          .         .         .         .         .         .       g.280631
 ttaatcttgtcaatgagagggaccagttggtgttgcccaatcagcactccaaggctgtgt       c.*2940

          .         .         .         .         .         .       g.280691
 gtgcaccagccagagagcgcacggtggtagcagagtcgaggctgtcttgtatcctggttt       c.*3000

          .         .         .         .         .         .       g.280751
 catgtgttgttttgaactgataggaggatgttctcttctgacaagttacccttgtgtatc       c.*3060

          .         .         .         .         .         .       g.280811
 ctgcagacatgtaaaataaaatacaagttcatttttttcaccttttttagatttttttaa       c.*3120

          .         .         .         .         .         .       g.280871
 aaaataaaatgtgtaatcctttttttaaaagaaacacatgtaaatacatttaagtattgt       c.*3180

          .         .         .         .         .         .       g.280931
 aggcatagcgttcagatgtgactggcccaggcgttcctcggacaagcctgcattccccgt       c.*3240

          .         .         .         .         .         .       g.280991
 gatcacgcccacctcaagcccaggggctgcagcccagccacagatgaactctacctttgc       c.*3300

          .         .         .         .         .         .       g.281051
 tttcagaaccacttagtccttttgtaacaaagaaaaaaaaatgtttcttacaatgtcaat       c.*3360

          .         .                                               g.281072
 aaaaaattctttgtatggaaa                                              c.*3381

 (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 GLI family zinc finger 3 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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