trichorhinophalangeal syndrome I (TRPS1) - coding DNA reference sequence

(used for variant description)

(last modified May 9, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_014112.2 in the TRPS1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012383.1, covering TRPS1 transcript NM_014112.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5038
                       aatagtgttggtgtcttgaaactgacgtaatgcgcgga       c.-541

 .         .         .         .         .         .                g.5098
 gactgaggtcctgacaagcgataacatttctgataaagacccgatcttactgcaatctct       c.-481

 .         .         .         .         .         .                g.5158
 agcgtcctcttttttggtgctgctggtttctccagacctcgcgtcctctcgattgctctc       c.-421

 .         .         .         .         .         .                g.5218
 tcgccttcctatttcttttttttttttttaaacaaaaaacaacaccccctcccctctccc       c.-361

 .         .         .         .         .         .                g.5278
 acccggcaccgggcacatccttgctctatttcctttctctttctctctctctctctctct       c.-301

 .         .         .         .         .         .                g.5338
 ctctcttttttaataagggtgggggagggaaaggggggggaggcaggaaagacctttttc       c.-241

 .         .         .         .         .         .                g.5398
 tctcccccccgcaataatccaagatcaactctgcaaacaacagaagacggttcatggctt       c.-181

 .         .         .         .         .         .         | 02    g.50244
 tggccgccgcgccaccatctttcgggctgccgagggtgttcttgacgattaatcaacag | a    c.-121

 .         .         .         .         .         .                g.50304
 tgtacagatcagctctcaaaatgtcttctgtgtcttctgagcgtcttctaagacaattgc       c.-61

 .         .         .         .         .         .                g.50364
 attagcctcctgctagttgactaatagaattaataattgtaaaaagcactctaaagccac       c.-1

          .         .         .        | 03.         .         .    g.53964
 ATGCCTTATGAAGTCAATGCTGGGTATGATTTTACAA | ATATGGTCCGGAAAAAGAACCCC    c.60
 M  P  Y  E  V  N  A  G  Y  D  F  T  N |   M  V  R  K  K  N  P      p.20

          .         .         .         .         .         .       g.54024
 CCTCTGAGAAACGTTGCAAGTGAAGGCGAGGGCCAGATCCTGGAGCCTATAGGTACAGAA       c.120
 P  L  R  N  V  A  S  E  G  E  G  Q  I  L  E  P  I  G  T  E         p.40

          .         .         .         .         .         .       g.54084
 AGCAAGGTATCTGGAAAGAACAAAGAATTTTCTGCAGATCAGATGTCAGAAAATACGGAT       c.180
 S  K  V  S  G  K  N  K  E  F  S  A  D  Q  M  S  E  N  T  D         p.60

          .         .         .         .         .         .       g.54144
 CAGAGTGATGCTGCAGAACTAAATCATAAGGAGGAACATAGCTTGCATGTTCAAGATCCA       c.240
 Q  S  D  A  A  E  L  N  H  K  E  E  H  S  L  H  V  Q  D  P         p.80

          .         .         .         .         .         .       g.54204
 TCTTCTAGCAGTAAGAAGGACTTGAAAAGCGCAGTTCTGAGTGAGAAGGCTGGCTTCAAT       c.300
 S  S  S  S  K  K  D  L  K  S  A  V  L  S  E  K  A  G  F  N         p.100

          .         .         .         .         .         .       g.54264
 TATGAAAGCCCCAGTAAGGGAGGAAACTTTCCCTCCTTTCCGCATGATGAGGTGACAGAC       c.360
 Y  E  S  P  S  K  G  G  N  F  P  S  F  P  H  D  E  V  T  D         p.120

          .         .         .         .         .         .       g.54324
 AGAAATATGTTGGCTTTCTCATCTCCAGCTGCTGGGGGAGTCTGTGAGCCCTTGAAGTCT       c.420
 R  N  M  L  A  F  S  S  P  A  A  G  G  V  C  E  P  L  K  S         p.140

          .         .         .         .         .         .       g.54384
 CCGCAAAGAGCAGAGGCAGATGACCCTCAAGATATGGCCTGCACCCCCTCAGGGGACTCA       c.480
 P  Q  R  A  E  A  D  D  P  Q  D  M  A  C  T  P  S  G  D  S         p.160

          .         .         .         .         .         .       g.54444
 CTGGAGACAAAGGAAGATCAGAAGATGTCACCAAAGGCTACAGAGGAAACAGGGCAAGCA       c.540
 L  E  T  K  E  D  Q  K  M  S  P  K  A  T  E  E  T  G  Q  A         p.180

          .         .         .         .         .         .       g.54504
 CAGAGTGGTCAAGCCAATTGTCAAGGTTTGAGCCCAGTTTCAGTGGCCTCAAAAAACCCA       c.600
 Q  S  G  Q  A  N  C  Q  G  L  S  P  V  S  V  A  S  K  N  P         p.200

          .         .         .         .         .         .       g.54564
 CAAGTGCCTTCAGATGGGGGTGTAAGACTGAATAAATCCAAAACTGACTTACTGGTGAAT       c.660
 Q  V  P  S  D  G  G  V  R  L  N  K  S  K  T  D  L  L  V  N         p.220

          .         .         .         .         .         .       g.54624
 GACAACCCAGACCCGGCACCTCTGTCTCCAGAGCTTCAGGACTTTAAATGCAATATCTGT       c.720
 D  N  P  D  P  A  P  L  S  P  E  L  Q  D  F  K  C  N  I  C         p.240

          .         .         .         .         .         .       g.54684
 GGATATGGTTACTACGGCAACGACCCCACAGATCTGATTAAGCACTTCCGAAAGTATCAC       c.780
 G  Y  G  Y  Y  G  N  D  P  T  D  L  I  K  H  F  R  K  Y  H         p.260

          .         .         .         .         .         .       g.54744
 TTAGGACTGCATAACCGCACCAGGCAAGATGCTGAGCTGGACAGCAAAATCTTGGCCCTT       c.840
 L  G  L  H  N  R  T  R  Q  D  A  E  L  D  S  K  I  L  A  L         p.280

          .         .         .         .         .         .       g.54804
 CATAACATGGTGCAGTTCAGCCATTCCAAAGACTTCCAGAAGGTCAACCGTTCTGTGTTT       c.900
 H  N  M  V  Q  F  S  H  S  K  D  F  Q  K  V  N  R  S  V  F         p.300

          .         .         .         .         .         .       g.54864
 TCTGGTGTGCTGCAGGACATCAATTCTTCAAGGCCTGTTTTACTAAATGGGACCTATGAT       c.960
 S  G  V  L  Q  D  I  N  S  S  R  P  V  L  L  N  G  T  Y  D         p.320

        | 04 .         .         .         .         .         .    g.69053
 GTGCAG | GTGACTTCAGGTGGAACATTCATTGGCATTGGACGGAAAACACCAGATTGCCAA    c.1020
 V  Q   | V  T  S  G  G  T  F  I  G  I  G  R  K  T  P  D  C  Q      p.340

          .         .         .         .         .         .       g.69113
 GGGAACACCAAGTATTTCCGCTGTAAATTCTGCAATTTCACTTATATGGGCAACTCATCC       c.1080
 G  N  T  K  Y  F  R  C  K  F  C  N  F  T  Y  M  G  N  S  S         p.360

          .         .         .         .         .         .       g.69173
 ACCGAATTAGAACAACATTTTCTTCAGACTCACCCAAACAAAATAAAAGCTTCTCTCCCC       c.1140
 T  E  L  E  Q  H  F  L  Q  T  H  P  N  K  I  K  A  S  L  P         p.380

          .         .         .         .         .         .       g.69233
 TCCTCTGAGGTTGCAAAACCTTCAGAGAAAAACTCTAACAAGTCCATCCCTGCACTTCAA       c.1200
 S  S  E  V  A  K  P  S  E  K  N  S  N  K  S  I  P  A  L  Q         p.400

          .         .         .         .         .         .       g.69293
 TCCAGTGATTCTGGAGACTTGGGAAAATGGCAGGACAAGATAACAGTCAAAGCAGGAGAT       c.1260
 S  S  D  S  G  D  L  G  K  W  Q  D  K  I  T  V  K  A  G  D         p.420

          .         .         .         .         .         .       g.69353
 GACACTCCTGTTGGGTACTCAGTGCCCATAAAGCCCCTCGATTCCTCTAGACAAAATGGT       c.1320
 D  T  P  V  G  Y  S  V  P  I  K  P  L  D  S  S  R  Q  N  G         p.440

          .         .         .         .         .         .       g.69413
 ACAGAGGCCACCAGTTACTACTGGTGTAAATTTTGTAGTTTCAGCTGTGAGTCATCTAGC       c.1380
 T  E  A  T  S  Y  Y  W  C  K  F  C  S  F  S  C  E  S  S  S         p.460

          .         .         .         .         .         .       g.69473
 TCACTTAAACTGCTAGAACATTATGGCAAGCAGCACGGAGCAGTGCAGTCAGGCGGCCTT       c.1440
 S  L  K  L  L  E  H  Y  G  K  Q  H  G  A  V  Q  S  G  G  L         p.480

          .         .         .         .         .         .       g.69533
 AATCCAGAGTTAAATGATAAGCTTTCCAGGGGCTCTGTCATTAATCAGAATGATCTAGCC       c.1500
 N  P  E  L  N  D  K  L  S  R  G  S  V  I  N  Q  N  D  L  A         p.500

          .         .         .         .         .         .       g.69593
 AAAAGTTCAGAAGGAGAGACAATGACCAAGACAGACAAGAGCTCGAGTGGGGCTAAAAAG       c.1560
 K  S  S  E  G  E  T  M  T  K  T  D  K  S  S  S  G  A  K  K         p.520

          .         .         .         .         .         .       g.69653
 AAGGACTTCTCCAGCAAGGGAGCCGAGGATAATATGGTAACGAGCTATAATTGTCAGTTC       c.1620
 K  D  F  S  S  K  G  A  E  D  N  M  V  T  S  Y  N  C  Q  F         p.540

          .         .         .         .         .         .       g.69713
 TGTGACTTCCGATATTCCAAAAGCCATGGCCCTGATGTAATTGTAGTGGGGCCACTTCTC       c.1680
 C  D  F  R  Y  S  K  S  H  G  P  D  V  I  V  V  G  P  L  L         p.560

          .         .         .         .         .         .       g.69773
 CGTCATTATCAACAGCTCCATAACATTCACAAGTGTACCATTAAACACTGTCCATTCTGT       c.1740
 R  H  Y  Q  Q  L  H  N  I  H  K  C  T  I  K  H  C  P  F  C         p.580

          .         .         .         .         .         .       g.69833
 CCCAGAGGACTTTGCAGCCCAGAAAAGCACCTTGGAGAAATTACTTATCCGTTTGCTTGT       c.1800
 P  R  G  L  C  S  P  E  K  H  L  G  E  I  T  Y  P  F  A  C         p.600

          .         .         .         .         .         .       g.69893
 AGAAAAAGTAATTGTTCCCACTGTGCACTCTTGCTTCTGCACTTGTCTCCTGGGGCGGCT       c.1860
 R  K  S  N  C  S  H  C  A  L  L  L  L  H  L  S  P  G  A  A         p.620

          .         .         .         .         .         .       g.69953
 GGAAGCTCGCGAGTCAAACATCAGTGCCATCAGTGTTCATTCACCACCCCTGACGTAGAT       c.1920
 G  S  S  R  V  K  H  Q  C  H  Q  C  S  F  T  T  P  D  V  D         p.640

          .         .         .         .         .         .       g.70013
 GTACTCCTCTTTCACTATGAAAGTGTGCATGAGTCCCAAGCATCGGATGTCAAACAAGAA       c.1980
 V  L  L  F  H  Y  E  S  V  H  E  S  Q  A  S  D  V  K  Q  E         p.660

          .         .         .         .         .         .       g.70073
 GCAAATCACCTGCAAGGATCGGATGGGCAGCAGTCTGTCAAGGAAAGCAAAGAACACTCA       c.2040
 A  N  H  L  Q  G  S  D  G  Q  Q  S  V  K  E  S  K  E  H  S         p.680

          .         .         .         .         .       | 05 .    g.86401
 TGTACCAAATGTGATTTTATTACCCAAGTGGAAGAAGAGATTTCCCGACACTACAG | GAGA    c.2100
 C  T  K  C  D  F  I  T  Q  V  E  E  E  I  S  R  H  Y  R  |  R      p.700

          .         .         .         .         .         .       g.86461
 GCACACAGCTGCTACAAATGCCGTCAGTGCAGTTTTACAGCTGCCGATACTCAGTCACTA       c.2160
 A  H  S  C  Y  K  C  R  Q  C  S  F  T  A  A  D  T  Q  S  L         p.720

          .         .         .         .         .         .       g.86521
 CTGGAGCACTTCAACACTGTTCACTGCCAGGAACAGGACATCACTACAGCCAACGGCGAA       c.2220
 L  E  H  F  N  T  V  H  C  Q  E  Q  D  I  T  T  A  N  G  E         p.740

          .         .         .         .         .         .       g.86581
 GAGGACGGTCATGCCATATCCACCATCAAAGAGGAGCCCAAAATTGACTTCAGGGTCTAC       c.2280
 E  D  G  H  A  I  S  T  I  K  E  E  P  K  I  D  F  R  V  Y         p.760

          .         .         .         .         .         .       g.86641
 AATCTGCTAACTCCAGACTCTAAAATGGGAGAGCCAGTTTCTGAGAGTGTGGTGAAGAGA       c.2340
 N  L  L  T  P  D  S  K  M  G  E  P  V  S  E  S  V  V  K  R         p.780

          .         .         .         .         .         .       g.86701
 GAGAAGCTGGAAGAGAAGGACGGGCTCAAAGAGAAAGTTTGGACCGAGAGTTCCAGTGAT       c.2400
 E  K  L  E  E  K  D  G  L  K  E  K  V  W  T  E  S  S  S  D         p.800

          .         .         .         .         .         .       g.86761
 GACCTTCGCAATGTGACTTGGAGAGGGGCAGACATCCTGCGGGGGAGTCCGTCATACACC       c.2460
 D  L  R  N  V  T  W  R  G  A  D  I  L  R  G  S  P  S  Y  T         p.820

          .         .         .         .         .         .       g.86821
 CAAGCAAGCCTGGGGCTGCTGACGCCTGTGTCTGGCACCCAAGAGCAGACAAAGACTCTA       c.2520
 Q  A  S  L  G  L  L  T  P  V  S  G  T  Q  E  Q  T  K  T  L         p.840

          .         .         .         .         .         .       g.86881
 AGGGATAGTCCCAATGTGGAGGCCGCCCATCTGGCGCGACCTATTTATGGCTTGGCTGTG       c.2580
 R  D  S  P  N  V  E  A  A  H  L  A  R  P  I  Y  G  L  A  V         p.860

          .         .         .         .         .         .       g.86941
 GAAACCAAGGGATTCCTGCAGGGGGCGCCAGCTGGCGGAGAGAAGTCTGGGGCCCTCCCC       c.2640
 E  T  K  G  F  L  Q  G  A  P  A  G  G  E  K  S  G  A  L  P         p.880

          .         .         .         .         .         .       g.87001
 CAGCAGTATCCTGCATCGGGAGAAAACAAGTCCAAGGATGAATCCCAGTCCCTGTTACGG       c.2700
 Q  Q  Y  P  A  S  G  E  N  K  S  K  D  E  S  Q  S  L  L  R         p.900

  | 06       .         .         .         .         .         .    g.255608
  | AGGCGTAGAGGCTCCGGTGTTTTTTGTGCCAATTGCCTGACCACAAAGACCTCTCTCTGG    c.2760
  | R  R  R  G  S  G  V  F  C  A  N  C  L  T  T  K  T  S  L  W      p.920

          .         .         .         .         .         .       g.255668
 CGAAAGAATGCAAATGGCGGATATGTATGCAACGCGTGTGGCCTCTACCAGAAGCTTCAC       c.2820
 R  K  N  A  N  G  G  Y  V  C  N  A  C  G  L  Y  Q  K  L  H         p.940

     | 07    .         .         .         .         .         .    g.258973
 TCG | ACTCCCAGGCCTTTAAACATCATTAAACAAAACAACGGTGAGCAGATTATTAGGAGG    c.2880
 S   | T  P  R  P  L  N  I  I  K  Q  N  N  G  E  Q  I  I  R  R      p.960

          .         .         .         .         .         .       g.259033
 AGAACAAGAAAGCGCCTTAACCCAGAGGCACTTCAGGCTGAGCAGCTCAACAAACAGCAG       c.2940
 R  T  R  K  R  L  N  P  E  A  L  Q  A  E  Q  L  N  K  Q  Q         p.980

          .         .         .         .         .         .       g.259093
 AGGGGCAGCAATGAGGAGCAAGTCAATGGAAGCCCGTTAGAGAGGAGGTCAGAAGATCAT       c.3000
 R  G  S  N  E  E  Q  V  N  G  S  P  L  E  R  R  S  E  D  H         p.1000

          .         .         .         .         .         .       g.259153
 CTAACTGAAAGTCACCAGAGAGAAATTCCACTCCCCAGCCTAAGTAAATACGAAGCCCAG       c.3060
 L  T  E  S  H  Q  R  E  I  P  L  P  S  L  S  K  Y  E  A  Q         p.1020

          .         .         .         .         .         .       g.259213
 GGTTCATTGACTAAAAGCCATTCTGCTCAGCAGCCAGTCCTGGTCAGCCAAACTCTGGAT       c.3120
 G  S  L  T  K  S  H  S  A  Q  Q  P  V  L  V  S  Q  T  L  D         p.1040

          .         .         .         .         .         .       g.259273
 ATTCACAAAAGGATGCAACCTTTGCACATTCAGATAAAAAGTCCTCAGGAAAGTACTGGA       c.3180
 I  H  K  R  M  Q  P  L  H  I  Q  I  K  S  P  Q  E  S  T  G         p.1060

          .         .         .         .         .         .       g.259333
 GATCCAGGAAATAGTTCATCCGTATCTGAAGGGAAAGGAAGTTCTGAGAGAGGCAGTCCT       c.3240
 D  P  G  N  S  S  S  V  S  E  G  K  G  S  S  E  R  G  S  P         p.1080

          .         .         .         .         .         .       g.259393
 ATAGAAAAGTACATGAGACCTGCGAAACACCCAAATTATTCACCACCAGGCAGCCCTATT       c.3300
 I  E  K  Y  M  R  P  A  K  H  P  N  Y  S  P  P  G  S  P  I         p.1100

          .         .         .         .         .         .       g.259453
 GAAAAGTACCAGTACCCACTTTTTGGACTTCCCTTTGTACATAATGACTTCCAGAGTGAA       c.3360
 E  K  Y  Q  Y  P  L  F  G  L  P  F  V  H  N  D  F  Q  S  E         p.1120

          .         .         .         .         .         .       g.259513
 GCTGATTGGCTGCGGTTCTGGAGTAAATATAAGCTCTCCGTTCCTGGGAATCCGCACTAC       c.3420
 A  D  W  L  R  F  W  S  K  Y  K  L  S  V  P  G  N  P  H  Y         p.1140

          .         .         .         .         .         .       g.259573
 TTGAGTCACGTGCCTGGCCTACCAAATCCTTGCCAAAACTATGTGCCTTATCCCACCTTC       c.3480
 L  S  H  V  P  G  L  P  N  P  C  Q  N  Y  V  P  Y  P  T  F         p.1160

          .         .         .         .         .         .       g.259633
 AATCTGCCTCCTCATTTTTCAGCTGTTGGATCAGACAATGACATTCCTCTAGATTTGGCG       c.3540
 N  L  P  P  H  F  S  A  V  G  S  D  N  D  I  P  L  D  L  A         p.1180

          .         .         .         .         .         .       g.259693
 ATCAAGCATTCCAGACCTGGGCCAACTGCAAACGGTGCCTCCAAGGAGAAAACGAAGGCA       c.3600
 I  K  H  S  R  P  G  P  T  A  N  G  A  S  K  E  K  T  K  A         p.1200

          .         .         .         .         .         .       g.259753
 CCACCAAATGTAAAAAATGAAGGTCCCTTGAATGTAGTAAAAACAGAGAAAGTTGATAGA       c.3660
 P  P  N  V  K  N  E  G  P  L  N  V  V  K  T  E  K  V  D  R         p.1220

          .         .         .         .         .         .       g.259813
 AGTACTCAAGATGAACTTTCAACAAAATGTGTGCACTGTGGCATTGTCTTTCTGGATGAA       c.3720
 S  T  Q  D  E  L  S  T  K  C  V  H  C  G  I  V  F  L  D  E         p.1240

          .         .         .         .         .         .       g.259873
 GTGATGTATGCTTTGCATATGAGTTGCCATGGTGACAGTGGACCTTTCCAGTGCAGCATA       c.3780
 V  M  Y  A  L  H  M  S  C  H  G  D  S  G  P  F  Q  C  S  I         p.1260

          .         .         .         .         .         .       g.259933
 TGCCAGCATCTTTGCACGGACAAATATGACTTCACAACACATATCCAGAGGGGCCTGCAT       c.3840
 C  Q  H  L  C  T  D  K  Y  D  F  T  T  H  I  Q  R  G  L  H         p.1280

          .         .         .         .                           g.259978
 AGGAACAATGCACAAGTGGAAAAAAATGGAAAACCTAAAGAGTAA                      c.3885
 R  N  N  A  Q  V  E  K  N  G  K  P  K  E  X                        p.1294

          .         .         .         .         .         .       g.260038
 aaccttagcacttagcacaattaaatagaaataggttttcttgatgggaattcaatagct       c.*60

          .         .         .         .         .         .       g.260098
 tgtaatgtcttatgaagacctattaaaaaaatacttcatagagcctgccttatccaacat       c.*120

          .         .         .         .         .         .       g.260158
 gaaattcccttcttttgttattctttcttttgatgagtaggttaccaagattaaaaagtg       c.*180

          .         .         .         .         .         .       g.260218
 agataaatggtcaatgagaaagaatggaagatggtaaacaatcactttttaaaacctgtt       c.*240

          .         .         .         .         .         .       g.260278
 aagtcaaaaccatcttggctaatatgtactggggaaataatccataagagatatcaccag       c.*300

          .         .         .         .         .         .       g.260338
 actagaattaatatatttataaagaaagagaccaaaactgtctagaatttgaaagggttt       c.*360

          .         .         .         .         .         .       g.260398
 acatattattatactaaagcagtactggactggccattggaccatttgttccaaaaccca       c.*420

          .         .         .         .         .         .       g.260458
 taaattgttgcctaaatttataatgatcatgaaaccctaggcagaggaggagaaattgaa       c.*480

          .         .         .         .         .         .       g.260518
 ggtccagggcaatgaaagaaaaatggcgccctctcaatttagtcttctctcattggccat       c.*540

          .         .         .         .         .         .       g.260578
 gtttcagattttgacctagaaatgcgagctgtggttaggcttggttagagtgcagcaagc       c.*600

          .         .         .         .         .         .       g.260638
 aacatgacagatggtggcacgctgtttttacccagccctgcctgtacatacacatgcaca       c.*660

          .         .         .         .         .         .       g.260698
 ccctctctgatatttttgtcctttagatgttcaaatactcagtagtccttttgtttgcgg       c.*720

          .         .         .         .         .         .       g.260758
 tttagattcattttgtccacacatgtacccattttaaaaaacaatgtcctcgatgcttct       c.*780

          .         .         .         .         .         .       g.260818
 gtagtgatttcattttagccaggtatttctttcttgtgtgtgatgaaccagtatggattt       c.*840

          .         .         .         .         .         .       g.260878
 gcttttctaagcctcctgttggttactaatctcacttggcacattataactaaaggaatc       c.*900

          .         .         .         .         .         .       g.260938
 ccctcaattcaaaagcatagatggatacaaatgtcagaccgtgggtttaatttgtttaga       c.*960

          .         .         .         .         .         .       g.260998
 acacatggcatttcttcacaaggtaacctgctgtatttatttattttcttttggttaaat       c.*1020

          .         .         .         .         .         .       g.261058
 ataatttccaaactttgtggtcaggcagcgtctaaggttacgttaccacagactgacagt       c.*1080

          .         .         .         .         .         .       g.261118
 tggtatatgtaccagccaatcccttcattaaatgtatacagatttagttaagtagcatta       c.*1140

          .         .         .         .         .         .       g.261178
 aataggattcttagaagtatgtcctcatagaacttttaatacttaaggctttgtaaaaac       c.*1200

          .         .         .         .         .         .       g.261238
 tatccatgaagggaaagctcctcagcataactgctcagggaaatagggctaaataactga       c.*1260

          .         .         .         .         .         .       g.261298
 acattaaataattggttaaaggtgctgttagtcgagcctcaatgcttgctacaaggatgt       c.*1320

          .         .         .         .         .         .       g.261358
 atgtacaaggactgactttaataatttgcattatattgtcccaaccagtagtttattttt       c.*1380

          .         .         .         .         .         .       g.261418
 tgccacggagatgtagaagatattacaagctactggatgcactgtcagattaacttattt       c.*1440

          .         .         .         .         .         .       g.261478
 cattaaagaagttgggagaacaaataggaaaaaaaaaacttatttttctagtaaatatta       c.*1500

          .         .         .         .         .         .       g.261538
 atgtattacatttcaaataatggtgcctgacatattgaataattattttctacagtgtac       c.*1560

          .         .         .         .         .         .       g.261598
 gtatgcaacaaagatattccatcatgcattagagtcagttctggctctgcctagctgttt       c.*1620

          .         .         .         .         .         .       g.261658
 acatttgcaaatgtagcaaacaaggtaatgaagcaactatttctattgcagtagatatcc       c.*1680

          .         .         .         .         .         .       g.261718
 ttttgtgtgtgtgtgtgtgcattaaagttgtaaacggtaacatgaaacaaatgaaagttc       c.*1740

          .         .         .         .         .         .       g.261778
 ttgctataatggtatggaaaacaagaaggaaatgaaaatatttttatgcctacttaggaa       c.*1800

          .         .         .         .         .         .       g.261838
 aaaaagggtagcacttattcattccaagtacttttttttttttaatttttaagctcttaa       c.*1860

          .         .         .         .         .         .       g.261898
 ctcacattgttatgcttaagatgataaacatatatcctctttttattgctttgtctatgt       c.*1920

          .         .         .         .         .         .       g.261958
 ttcatatgaaacatttcagaaattattttgataagtgttgctggaatctgcaacgctgat       c.*1980

          .         .         .         .         .         .       g.262018
 ttttttttgcattctgtagtcgcatttgcactccatttttacattaattcgcagttgctt       c.*2040

          .         .         .         .         .         .       g.262078
 tgtatcattgttttgtttgggttttgtttctttttcacagtgccgggtcttcgtttctta       c.*2100

          .         .         .         .         .         .       g.262138
 aagttggatggcaggtagagttcaaccagttcgtgactgttgtagcgaatgaagttaaaa       c.*2160

          .         .         .         .         .         .       g.262198
 aaatgtctttctgatgttgtgttgtcattttcatttttgcatttttttgtttgcatatta       c.*2220

          .         .         .         .         .         .       g.262258
 aaaaaagagaaaagagaaagcaagagacagaaatcaggactaagtcctctgcttcagttt       c.*2280

          .         .         .         .         .         .       g.262318
 cattgttaacgggccttattctgatctcacctgtcgcgtagctctaatattcacataaac       c.*2340

          .         .         .         .         .         .       g.262378
 tgaaataaagaagtggaatgaggagctttgacattcaaattatgtgatgtaatttatctt       c.*2400

          .         .         .         .         .         .       g.262438
 ccttaggaattttgatggatgcatctcaaaatgtatagccagacttgagaggtgacaatt       c.*2460

          .         .         .         .         .         .       g.262498
 aaagatctaaaaaagagaggagattcccccaaacaacaatatttaattttcttagtaaaa       c.*2520

          .         .         .         .         .         .       g.262558
 agaataacagaatgcatcgtggcaatccttaagcaacattatctatgtggactgcttaaa       c.*2580

          .         .         .         .         .         .       g.262618
 tcagcaaaacaccagaagtttggttaacttgggcaatatgacaagtattactttttgggc       c.*2640

          .         .         .         .         .         .       g.262678
 aaaactactcattaagcaatttctctagtgtgtcggacacaaataggttctttatttttg       c.*2700

          .         .         .         .         .         .       g.262738
 gcatgtatgcctttttattttcattcaattttttttttttctcagacagacatagtagta       c.*2760

          .         .         .         .         .         .       g.262798
 tcaactagcattggaaaatacatatcactattcttggaatatttatggtcagtctacttt       c.*2820

          .         .         .         .         .         .       g.262858
 ttagtaaaatatttttggatagcgttgacacgatagatcttattccatacttctttatta       c.*2880

          .         .         .         .         .         .       g.262918
 ttgataattttattttcattttttgctttcattattatacatattttggtggagaagagg       c.*2940

          .         .         .         .         .         .       g.262978
 ttgggcttttttgaaagagacaaaaatttattataacactaaacactccttttttgacat       c.*3000

          .         .         .         .         .         .       g.263038
 attaaagcctttattccatctctcaagatatattataaaatttatttttttaatttaaga       c.*3060

          .         .         .         .         .         .       g.263098
 tttctgaattattttatcttaaattgtgattttaaacgagctattatggtacggaacttt       c.*3120

          .         .         .         .         .         .       g.263158
 ttttaatgaggaatttcatgatgatttaggaattttctctcttggaaaaggcttcccctg       c.*3180

          .         .         .         .         .         .       g.263218
 tgatgaaaatgatgtgccagctaaaattgtgtgccatttaaaaactgaaaatattttaaa       c.*3240

          .         .         .         .         .         .       g.263278
 attatttgtctatattctaaattgagctttggatcaaactttaggccaggaccagctcat       c.*3300

          .         .         .         .         .         .       g.263338
 gcgttctcattcttccttttctcactctttctctcatcactcacctctgtattcattctg       c.*3360

          .         .         .         .         .         .       g.263398
 ttgtttgggatagaaaaatcataaagagccaacccatctcagaacgttgtggattgagag       c.*3420

          .         .         .         .         .         .       g.263458
 agacactacatgactccaagtatatgagaaaaggacagagctctaattgataactctgta       c.*3480

          .         .         .         .         .         .       g.263518
 gttcaaaaggaaaagagtatgcccaattctctctacatgacatattgagattttttttaa       c.*3540

          .         .         .         .         .         .       g.263578
 tcaacttttaagatagtgatgttctgttctaaactgttctgttttagtgaaggtagattt       c.*3600

          .         .         .         .         .         .       g.263638
 ttataaaacaagcatggggattcttttctaaggtaatattaatgagaagggaaaaaagta       c.*3660

          .         .         .         .         .         .       g.263698
 tctttaacagctctttgttgaagcctgtggtagcacattatgtttataattgcacatgtg       c.*3720

          .         .         .         .         .         .       g.263758
 cacataatctattatgatccaatgcaaatacagctccaaaaatattaaatgtatatatat       c.*3780

          .         .         .         .         .         .       g.263818
 tttaaaatgcctgaggaaatacatttttcttaataaactgaagagtctcagtatggctat       c.*3840

          .         .         .         .         .         .       g.263878
 taaaataattattagcctcctgttgtgtggctgcaaaacatcacaaagtgaccggtcttg       c.*3900

          .         .         .         .         .         .       g.263938
 agacctgtgaactgctgccctgtttagtaaataaaattaatgcatttctagagggggaat       c.*3960

          .         .         .         .         .         .       g.263998
 atctgccatccagtggtggaaatgtggagtaaagaagctggtggtctgcttctgtgctgt       c.*4020

          .         .         .         .         .         .       g.264058
 atgccagccttttgccttaagttgagaggaggtcaactttagctactgtctttggtttga       c.*4080

          .         .         .         .         .         .       g.264118
 gagccatggcaaaaaaaaaaaaagaaaaaaagatcaagtcgtctttggtgagccagtaag       c.*4140

          .         .         .         .         .         .       g.264178
 gtgaaagcttgctgactgtccaaggcacaagagaaaattgaggaattgaaatgcaacctg       c.*4200

          .         .         .         .         .         .       g.264238
 agtatcaaactaaatattctaatcaaaggtaggtactgttaggtggaattctatcagcag       c.*4260

          .         .         .         .         .         .       g.264298
 gcaactgcaaatgagaagaagatagaaggacgcccgtcgggactttggagggcattgtta       c.*4320

          .         .         .         .         .         .       g.264358
 ttttcccaaagaaagacggccaagggcagaggcatggattctttgcagagcacttccttt       c.*4380

          .         .         .         .         .         .       g.264418
 tggtttttcagtactgtttcatagacagtgggctcacatgttcctgatagtgctgcagtt       c.*4440

          .         .         .         .         .         .       g.264478
 gcttagaaagcatcccagttaattgcagtaattagaacttctggaatatgctagggcaga       c.*4500

          .         .         .         .         .         .       g.264538
 agtatgtcaagtatgtcacatgaagaaaatgtgaaattcaagagtaatccacacgtgaga       c.*4560

          .         .         .         .         .         .       g.264598
 aactagacaatgtacattcatgtgttctcttgaaaggaaagggagagctgtaagcttcac       c.*4620

          .         .         .         .         .         .       g.264658
 tctgtcctacaccggagaaaagcaggaataactttaccgtggaaataatgtttagctttt       c.*4680

          .         .         .         .         .         .       g.264718
 atcagagaaaattgtccttctagagcatagagtcccaaaactcaattctggttttcccct       c.*4740

          .         .         .         .         .         .       g.264778
 gttttttttttttttttttttcccaacatatgaactgcagcatatcactttttctttttg       c.*4800

          .         .         .         .         .         .       g.264838
 tgcctcaggttcctcacctgtaaaattgaaaaatatatgtattaataatattattaataa       c.*4860

          .         .         .         .         .         .       g.264898
 taataatggtaatgtagtacttgtttgtaaagcactttgagatccttggttgaaaggcac       c.*4920

          .         .         .         .         .         .       g.264958
 cataggagtgccaagtattattatgtggccaagggggttatttaaactgtcagttcccaa       c.*4980

          .         .         .         .         .         .       g.265018
 aggccaggaaaggttggggtcatttttcttaaagacgagctgtaaatatcaactaggcag       c.*5040

          .         .         .         .         .         .       g.265078
 ccaatagtgttgactatgaagatgcaaaactattactaggctgataaaatcatagtttct       c.*5100

          .         .         .         .         .         .       g.265138
 taatggctaccaataaggcaaatatcacaataataaacgccaaattccttagggcggact       c.*5160

          .         .         .         .         .         .       g.265198
 atttgacaaccacatggaaaactttgggggaggcatgaggggggaacatctcaaaatgcc       c.*5220

          .         .         .         .         .         .       g.265258
 aatgtaaaatttaacttacagcaatattcaccagcagaaaatgtctttcatatggaatga       c.*5280

          .         .         .         .         .         .       g.265318
 tttcatgttgctaagaaaaagaattcaatttgtagtcctgatttgaatactagaatgttg       c.*5340

          .         .         .         .         .         .       g.265378
 gctataatagttctgttcttacaacacatgaaattttttcgttttattttattttgtttt       c.*5400

          .         .         .         .         .         .       g.265438
 catagtgcatgttcatttctactcacaaacatgttcttggtgtatttcttatgcaaacaa       c.*5460

          .         .         .         .         .         .       g.265498
 tcttcaggcagcaaagatgtctgttacatctaaacttgaataataaagttttaccaccag       c.*5520

                                                                    g.265505
 ttacaca                                                            c.*5527

 (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 Trichorhinophalangeal syndrome I 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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