chromodomain helicase DNA binding protein 3 (CHD3) - coding DNA reference sequence

(used for variant description)

(last modified December 28, 2019)


This file was created to facilitate the description of sequence variants on transcript NM_001005273.2 in the CHD3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000017.10, covering CHD3 transcript NM_001005273.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.9076
                               atatggaggtgaagggtgagatcgggaaac       c.-121

 .         .         .         .         .         .                g.9136
 aaagggtatggccccctagttcccaaagggagcagggagatgggaatagaattgaaggta       c.-61

 .         .         .         .         .         .                g.9196
 ggttttaggctacttgggaggaggaatatttaggtaattgtggagactttctcctgtgtg       c.-1

          .         .         .         .         .         .       g.9256
 ATGAAGGCGGCAGACACTGTGATCCTGTGGGCAAGAAGTAAAAATGACCAGCTGAGGATT       c.60
 M  K  A  A  D  T  V  I  L  W  A  R  S  K  N  D  Q  L  R  I         p.20

          .         .         .         . | 02       .         .    g.9879
 TCTTTTCCTCCAGGACTGTGTTGGGGTGACAGGATGCCTG | ATAAGGATGACATTCGGCTG    c.120
 S  F  P  P  G  L  C  W  G  D  R  M  P  D |   K  D  D  I  R  L      p.40

          .         .         .         .         .         .       g.9939
 CTGCCGTCAGCATTGGGTGTGAAGAAGAGAAAACGAGGACCCAAGAAGCAGAAGGAGAAC       c.180
 L  P  S  A  L  G  V  K  K  R  K  R  G  P  K  K  Q  K  E  N         p.60

          .         .         .    | 03    .         .         .    g.10793
 AAGCCAGGAAAACCCCGAAAACGCAAGAAGCGT | GACAGTGAGGAGGAATTTGGTTCTGAG    c.240
 K  P  G  K  P  R  K  R  K  K  R   | D  S  E  E  E  F  G  S  E      p.80

          .         .         .         .         .         .       g.10853
 CGAGATGAGTACCGGGAGAAGTCAGAGAGTGGGGGCAGTGAATATGGAACCGGACCGGGT       c.300
 R  D  E  Y  R  E  K  S  E  S  G  G  S  E  Y  G  T  G  P  G         p.100

          .         .         .         .         .         .       g.10913
 CGGAAACGAAGAAGGAAGCACCGAGAAAAAAAGGAGAAGAAGACAAAGCGGCGGAAAAAG       c.360
 R  K  R  R  R  K  H  R  E  K  K  E  K  K  T  K  R  R  K  K         p.120

          .         .     | 04   .         .         .         .    g.11171
 GGGGAGGGAGATGGGGGGCAAAAG | CAAGTGGAACAGAAGTCATCAGCAACTCTGCTTCTG    c.420
 G  E  G  D  G  G  Q  K   | Q  V  E  Q  K  S  S  A  T  L  L  L      p.140

          .         .         .         .         .         .       g.11231
 ACCTGGGGCCTGGAGGATGTGGAGCATGTGTTCTCTGAGGAGGATTACCACACGCTCACC       c.480
 T  W  G  L  E  D  V  E  H  V  F  S  E  E  D  Y  H  T  L  T         p.160

          .         .          | 05        .         .         .    g.13512
 AACTACAAAGCCTTCAGCCAGTTCATGAG | GCCCCTAATTGCTAAGAAGAATCCTAAGATC    c.540
 N  Y  K  A  F  S  Q  F  M  R  |  P  L  I  A  K  K  N  P  K  I      p.180

          .         .         .         .         .         .       g.13572
 CCAATGTCTAAGATGATGACCATCCTTGGGGCCAAATGGAGAGAGTTCAGTGCCAACAAC       c.600
 P  M  S  K  M  M  T  I  L  G  A  K  W  R  E  F  S  A  N  N         p.200

          .         .         .         .         .         .       g.13632
 CCCTTCAAGGGGTCAGCAGCTGCTGTGGCGGCGGCAGCGGCAGCAGCAGCAGCAGCTGTA       c.660
 P  F  K  G  S  A  A  A  V  A  A  A  A  A  A  A  A  A  A  V         p.220

          .         .         .         .         .         .       g.13692
 GCTGAGCAGGTGTCAGCTGCTGTCTCGTCGGCCACCCCCATAGCACCCTCCGGACCCCCC       c.720
 A  E  Q  V  S  A  A  V  S  S  A  T  P  I  A  P  S  G  P  P         p.240

          .         .         .         .         .         .       g.13752
 GCCCTTCCACCACCCCCTGCTGCTGATATCCAGCCCCCACCCATCCGAAGAGCCAAAACC       c.780
 A  L  P  P  P  P  A  A  D  I  Q  P  P  P  I  R  R  A  K  T         p.260

          .    | 06    .         .         .         .         .    g.14047
 AAAGAGGGCAAAG | GTCCAGGCCATAAGAGGCGGAGTAAGAGCCCCCGAGTGCCTGATGGA    c.840
 K  E  G  K  G |   P  G  H  K  R  R  S  K  S  P  R  V  P  D  G      p.280

          .         .         .         .         .         .       g.14107
 CGCAAGAAGCTTCGGGGAAAGAAAATGGCACCACTCAAAATAAAACTAGGGCTTCTGGGT       c.900
 R  K  K  L  R  G  K  K  M  A  P  L  K  I  K  L  G  L  L  G         p.300

          .         .     | 07   .         .         .         .    g.14346
 GGCAAGAGGAAGAAAGGAGGCTCG | TATGTTTTTCAGAGCGACGAAGGTCCTGAACCAGAG    c.960
 G  K  R  K  K  G  G  S   | Y  V  F  Q  S  D  E  G  P  E  P  E      p.320

          .         .         .         .         .         .       g.14406
 GCTGAGGAATCAGACCTGGACAGTGGCAGTGTCCACAGTGCCTCAGGCCGGCCTGATGGC       c.1020
 A  E  E  S  D  L  D  S  G  S  V  H  S  A  S  G  R  P  D  G         p.340

          .         .         .         .         .      | 08  .    g.14615
 CCTGTCCGCACCAAGAAACTAAAGAGAGGCCGGCCAGGAAGGAAGAAGAAGAAGG | TCCTG    c.1080
 P  V  R  T  K  K  L  K  R  G  R  P  G  R  K  K  K  K  V |   L      p.360

          .         .         .         .         .         .       g.14675
 GGCTGTCCTGCAGTGGCCGGGGAGGAGGAGGTTGATGGCTACGAGACGGATCACCAGGAT       c.1140
 G  C  P  A  V  A  G  E  E  E  V  D  G  Y  E  T  D  H  Q  D         p.380

          .         .         .         .         .         .       g.14735
 TACTGTGAGGTGTGCCAGCAGGGTGGGGAAATTATTCTGTGTGACACCTGCCCTCGTGCC       c.1200
 Y  C  E  V  C  Q  Q  G  G  E  I  I  L  C  D  T  C  P  R  A         p.400

          .         .         .         .         .         .       g.14795
 TACCACCTCGTCTGCCTTGATCCTGAGCTTGACCGGGCTCCAGAGGGCAAATGGAGCTGC       c.1260
 Y  H  L  V  C  L  D  P  E  L  D  R  A  P  E  G  K  W  S  C         p.420

           | 09        .         .         .         .         .    g.15163
 CCTCACTGT | GAGAAGGAGGGGGTCCAGTGGGAGGCCAAGGAGGAAGAAGAAGAATACGAA    c.1320
 P  H  C   | E  K  E  G  V  Q  W  E  A  K  E  E  E  E  E  Y  E      p.440

          .         .         .         .         .         .       g.15223
 GAGGAGGGAGAGGAAGAAGGGGAGAAGGAGGAGGAGGATGATCACATGGAGTACTGCCGC       c.1380
 E  E  G  E  E  E  G  E  K  E  E  E  D  D  H  M  E  Y  C  R         p.460

          .         .         .         .         .         .       g.15283
 GTATGCAAGGACGGCGGGGAGCTCCTGTGCTGTGACGCGTGCATCTCCTCCTACCACATT       c.1440
 V  C  K  D  G  G  E  L  L  C  C  D  A  C  I  S  S  Y  H  I         p.480

          .         .         .         .         .         .       g.15343
 CATTGTCTAAACCCTCCCCTGCCTGACATTCCCAATGGTGAATGGCTGTGTCCCCGATGC       c.1500
 H  C  L  N  P  P  L  P  D  I  P  N  G  E  W  L  C  P  R  C         p.500

     | 10    .         .         .         .         .         .    g.15591
 ACA | TGCCCCGTGCTGAAGGGTCGAGTGCAGAAGATCCTACATTGGCGGTGGGGGGAGCCA    c.1560
 T   | C  P  V  L  K  G  R  V  Q  K  I  L  H  W  R  W  G  E  P      p.520

          .         .         .         .         .         .       g.15651
 CCTGTAGCAGTGCCAGCCCCTCAACAGGCAGATGGAAATCCAGATGTCCCACCCCCCCGT       c.1620
 P  V  A  V  P  A  P  Q  Q  A  D  G  N  P  D  V  P  P  P  R         p.540

          .         .         .         .         .         .       g.15711
 CCTCTTCAAGGCAGATCAGAGCGAGAGTTCTTTGTCAAGTGGGTAGGACTATCCTACTGG       c.1680
 P  L  Q  G  R  S  E  R  E  F  F  V  K  W  V  G  L  S  Y  W         p.560

          .         .        | 11.         .         .         .    g.17311
 CACTGCTCCTGGGCCAAGGAGCTTCAG | CTGGAAATCTTCCATTTGGTTATGTATCGAAAC    c.1740
 H  C  S  W  A  K  E  L  Q   | L  E  I  F  H  L  V  M  Y  R  N      p.580

          .         .         .         .         .         .       g.17371
 TACCAGCGGAAGAATGACATGGATGAGCCCCCACCCCTGGACTATGGCTCCGGCGAGGAT       c.1800
 Y  Q  R  K  N  D  M  D  E  P  P  P  L  D  Y  G  S  G  E  D         p.600

          .         .         .         .         .         .       g.17431
 GATGGGAAGAGCGACAAGCGTAAAGTGAAAGACCCGCACTATGCTGAGATGGAGGAGAAG       c.1860
 D  G  K  S  D  K  R  K  V  K  D  P  H  Y  A  E  M  E  E  K         p.620

          .         .         .         .         .          | 12    g.18167
 TACTATCGTTTTGGCATCAAGCCAGAGTGGATGACCGTCCACCGCATCATCAACCACAG | T    c.1920
 Y  Y  R  F  G  I  K  P  E  W  M  T  V  H  R  I  I  N  H  S  |      p.640

          .         .         .         .         .         .       g.18227
 GTGGATAAAAAGGGGAATTACCACTATCTAGTAAAATGGAGGGACTTACCATATGACCAG       c.1980
 V  D  K  K  G  N  Y  H  Y  L  V  K  W  R  D  L  P  Y  D  Q         p.660

          .         .         .         .         .         .       g.18287
 TCCACGTGGGAGGAAGATGAAATGAATATCCCTGAATACGAAGAACATAAGCAAAGCTAC       c.2040
 S  T  W  E  E  D  E  M  N  I  P  E  Y  E  E  H  K  Q  S  Y         p.680

          .  | 13      .         .         .         .         .    g.18740
 TGGAGACACCG | AGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAG    c.2100
 W  R  H  R  |  E  L  I  M  G  E  D  P  A  Q  P  R  K  Y  K  K      p.700

          .         .         .         .         .  | 14      .    g.19215
 AAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGAT | CCTACCGTG    c.2160
 K  K  K  E  L  Q  G  D  G  P  P  S  S  P  T  N  D   | P  T  V      p.720

          .         .         .         .         .         .       g.19275
 AAATATGAGACTCAGCCACGGTTTATCACAGCCACTGGAGGCACCCTGCACATGTATCAG       c.2220
 K  Y  E  T  Q  P  R  F  I  T  A  T  G  G  T  L  H  M  Y  Q         p.740

          .         .         .         .         .         .       g.19335
 TTGGAAGGGCTGAACTGGCTACGCTTCTCCTGGGCCCAGGGCACTGACACCATTCTAGCT       c.2280
 L  E  G  L  N  W  L  R  F  S  W  A  Q  G  T  D  T  I  L  A         p.760

          .         .         .         .         .         .       g.19395
 GATGAGATGGGGCTAGGCAAGACCATACAAACCATCGTCTTCCTCTACTCACTCTACAAG       c.2340
 D  E  M  G  L  G  K  T  I  Q  T  I  V  F  L  Y  S  L  Y  K         p.780

     | 15    .         .         .         .         .         .    g.19595
 GAG | GGCCACACAAAAGGTCCCTTCCTGGTGAGTGCCCCACTCTCTACCATCATTAACTGG    c.2400
 E   | G  H  T  K  G  P  F  L  V  S  A  P  L  S  T  I  I  N  W      p.800

          .         .         .         .         .         .       g.19655
 GAGCGGGAGTTCCAGATGTGGGCACCCAAATTCTATGTGGTGACATACACGGGTGACAAG       c.2460
 E  R  E  F  Q  M  W  A  P  K  F  Y  V  V  T  Y  T  G  D  K         p.820

          .         .         .         .         .         .       g.19715
 GACAGCCGGGCCATCATTCGTGAGAATGAATTCTCCTTTGAGGACAATGCCATCAAAGGG       c.2520
 D  S  R  A  I  I  R  E  N  E  F  S  F  E  D  N  A  I  K  G         p.840

          .         .     | 16   .         .         .         .    g.20127
 GGCAAGAAAGCTTTTAAGATGAAG | AGGGAGGCACAGGTGAAGTTCCATGTTCTCCTGACA    c.2580
 G  K  K  A  F  K  M  K   | R  E  A  Q  V  K  F  H  V  L  L  T      p.860

          .         .         .         .         .         .       g.20187
 TCGTATGAGCTGATCACCATTGATCAGGCAGCACTTGGTTCCATCCGCTGGGCCTGTCTT       c.2640
 S  Y  E  L  I  T  I  D  Q  A  A  L  G  S  I  R  W  A  C  L         p.880

          .         .         .         .   | 17     .         .    g.20503
 GTGGTAGATGAGGCCCATCGACTCAAGAACAACCAGTCCAAG | TTTTTCAGGGTTCTCAAT    c.2700
 V  V  D  E  A  H  R  L  K  N  N  Q  S  K   | F  F  R  V  L  N      p.900

          .         .         .         .         .         .       g.20563
 GGTTACAAGATAGATCATAAGTTGCTGCTGACAGGAACCCCATTGCAGAATAATCTGGAG       c.2760
 G  Y  K  I  D  H  K  L  L  L  T  G  T  P  L  Q  N  N  L  E         p.920

          .         .         .         .     | 18   .         .    g.20769
 GAGCTCTTCCATCTCCTGAACTTCCTCACCCCAGAGAGATTTAA | CAACTTGGAGGGCTTC    c.2820
 E  L  F  H  L  L  N  F  L  T  P  E  R  F  N  |  N  L  E  G  F      p.940

          .         .         .         .         .         .       g.20829
 CTGGAGGAGTTTGCTGACATATCCAAAGAGGACCAGATCAAGAAACTGCATGATTTGCTG       c.2880
 L  E  E  F  A  D  I  S  K  E  D  Q  I  K  K  L  H  D  L  L         p.960

          .         .         .         .         .         .       g.20889
 GGGCCACACATGCTGCGGAGACTCAAGGCAGATGTCTTTAAGAACATGCCAGCCAAGACA       c.2940
 G  P  H  M  L  R  R  L  K  A  D  V  F  K  N  M  P  A  K  T         p.980

          .         .         .         | 19         .         .    g.21069
 GAGCTCATCGTTCGGGTGGAGCTAAGCCCCATGCAGAA | GAAATACTACAAATACATCCTG    c.3000
 E  L  I  V  R  V  E  L  S  P  M  Q  K  |  K  Y  Y  K  Y  I  L      p.1000

          .         .         .         .         .         .       g.21129
 ACTCGAAATTTTGAGGCCTTGAATTCACGAGGTGGTGGGAACCAGGTGTCGCTGCTTAAT       c.3060
 T  R  N  F  E  A  L  N  S  R  G  G  G  N  Q  V  S  L  L  N         p.1020

          .         .         .         .         .         .       g.21189
 ATCATGATGGATCTTAAGAAGTGCTGCAACCATCCATACCTTTTTCCCGTGGCTGCTATG       c.3120
 I  M  M  D  L  K  K  C  C  N  H  P  Y  L  F  P  V  A  A  M         p.1040

  | 20       .         .         .         .         .         .    g.21499
  | GAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGG    c.3180
  | E  S  P  K  L  P  S  G  A  Y  E  G  G  A  L  I  K  S  S  G      p.1060

          .         .         .         .         .         .       g.21559
 AAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTC       c.3240
 K  L  M  L  L  Q  K  M  L  R  K  L  K  E  Q  G  H  R  V  L         p.1080

          .   | 21     .         .         .         .         .    g.22853
 ATCTTCTCGCAG | ATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGC    c.3300
 I  F  S  Q   | M  T  K  M  L  D  L  L  E  D  F  L  D  Y  E  G      p.1100

          .         .         .         .         .         .       g.22913
 TACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGAT       c.3360
 Y  K  Y  E  R  I  D  G  G  I  T  G  A  L  R  Q  E  A  I  D         p.1120

          . | 22       .         .         .         .         .    g.23182
 CGGTTTAATG | CTCCTGGGGCCCAACAATTCTGCTTCCTCCTGTCCACCCGAGCTGGGGGC    c.3420
 R  F  N  A |   P  G  A  Q  Q  F  C  F  L  L  S  T  R  A  G  G      p.1140

          .         .         .         .         .         .       g.23242
 CTGGGCATCAATCTGGCCACTGCTGACACTGTCATCATCTTTGATTCTGACTGGAACCCC       c.3480
 L  G  I  N  L  A  T  A  D  T  V  I  I  F  D  S  D  W  N  P         p.1160

          .      | 23  .         .         .         .         .    g.23512
 CATAATGACATCCAG | GCCTTTAGCCGGGCTCATCGGATTGGCCAGGCCAACAAAGTGATG    c.3540
 H  N  D  I  Q   | A  F  S  R  A  H  R  I  G  Q  A  N  K  V  M      p.1180

          .         .         .         .         .         .       g.23572
 ATTTACCGGTTTGTGACTCGCGCGTCAGTGGAAGAGCGAATCACACAAGTGGCCAAGAGA       c.3600
 I  Y  R  F  V  T  R  A  S  V  E  E  R  I  T  Q  V  A  K  R         p.1200

          .         .         .         .         .         .       g.23632
 AAGATGATGCTGACACACCTGGTTGTGCGGCCTGGGCTGGGCTCCAAGGCAGGCTCCATG       c.3660
 K  M  M  L  T  H  L  V  V  R  P  G  L  G  S  K  A  G  S  M         p.1220

          .         .         .         .         .         .       g.23692
 TCCAAGCAGGAGCTTGACGACATTCTCAAATTTGGCACTGAAGAGCTATTCAAGGATGAA       c.3720
 S  K  Q  E  L  D  D  I  L  K  F  G  T  E  E  L  F  K  D  E         p.1240

         | 24.         .         .         .         .         .    g.24073
 AACGAGG | GGGAGAACAAGGAGGAGGACAGCAGTGTGATTCATTATGACAATGAGGCCATC    c.3780
 N  E  G |   E  N  K  E  E  D  S  S  V  I  H  Y  D  N  E  A  I      p.1260

          .         .         .         .         .         .       g.24133
 GCTCGGCTGTTGGACCGGAACCAGGATGCAACTGAGGACACTGACGTGCAGAACATGAAT       c.3840
 A  R  L  L  D  R  N  Q  D  A  T  E  D  T  D  V  Q  N  M  N         p.1280

          .         .         .         .         .     | 25   .    g.24643
 GAGTATCTCAGCTCCTTCAAGGTGGCACAGTACGTCGTGCGGGAAGAAGACAAG | ATTGAG    c.3900
 E  Y  L  S  S  F  K  V  A  Q  Y  V  V  R  E  E  D  K   | I  E      p.1300

          .         .         .         .         .         .       g.24703
 GAAATTGAGCGAGAGATCATCAAGCAGGAGGAGAATGTGGACCCTGACTACTGGGAGAAG       c.3960
 E  I  E  R  E  I  I  K  Q  E  E  N  V  D  P  D  Y  W  E  K         p.1320

          .         .         .         .         .         .       g.24763
 CTGCTGAGGCATCACTATGAGCAACAGCAGGAAGACCTAGCCCGGAATCTAGGCAAGGGC       c.4020
 L  L  R  H  H  Y  E  Q  Q  Q  E  D  L  A  R  N  L  G  K  G         p.1340

          .         .         .         .         .   | 26     .    g.25303
 AAGCGGGTTCGCAAGCAAGTTAACTACAATGATGCTGCTCAGGAAGACCAAG | ACAACCAG    c.4080
 K  R  V  R  K  Q  V  N  Y  N  D  A  A  Q  E  D  Q  D |   N  Q      p.1360

          .         .         .         .         .         | 27    g.25818
 TCAGAGTACTCGGTGGGTTCAGAGGAGGAGGATGAAGACTTCGATGAACGTCCTGAAG | GG    c.4140
 S  E  Y  S  V  G  S  E  E  E  D  E  D  F  D  E  R  P  E  G |       p.1380

          .         .         .         .         .         .       g.25878
 CGTAGACAGTCAAAGAGGCAGCTCCGGAATGAGAAAGATAAGCCACTGCCTCCACTGCTG       c.4200
 R  R  Q  S  K  R  Q  L  R  N  E  K  D  K  P  L  P  P  L  L         p.1400

          .         .     | 28   .         .         .         .    g.26087
 GCCCGAGTCGGGGGCAACATTGAG | GTGCTGGGCTTCAACACCCGTCAGCGGAAGGCTTTC    c.4260
 A  R  V  G  G  N  I  E   | V  L  G  F  N  T  R  Q  R  K  A  F      p.1420

          .         .         .         .         .         .       g.26147
 CTCAATGCTGTGATGCGCTGGGGGATGCCACCACAGGATGCCTTCACCACACAGTGGCTG       c.4320
 L  N  A  V  M  R  W  G  M  P  P  Q  D  A  F  T  T  Q  W  L         p.1440

          .         .         .         | 29         .         .    g.26770
 GTGCGGGACCTGAGGGGCAAGACTGAGAAGGAGTTTAA | GGCCTATGTGTCTTTGTTCATG    c.4380
 V  R  D  L  R  G  K  T  E  K  E  F  K  |  A  Y  V  S  L  F  M      p.1460

          .         .         .         .         .         .       g.26830
 CGCCATCTGTGTGAGCCTGGGGCAGACGGCTCTGAAACCTTTGCCGATGGGGTCCCTCGG       c.4440
 R  H  L  C  E  P  G  A  D  G  S  E  T  F  A  D  G  V  P  R         p.1480

          .         .         .         .         .         .       g.26890
 GAGGGACTGAGTCGCCAGCAGGTGTTGACCCGCATTGGAGTCATGTCTCTCGTCAAAAAG       c.4500
 E  G  L  S  R  Q  Q  V  L  T  R  I  G  V  M  S  L  V  K  K         p.1500

     | 30    .         .         .         .         .         .    g.27121
 AAG | GTGCAGGAGTTTGAGCACATCAATGGGCGTTGGTCAATGCCGGAACTGATGCCTGAC    c.4560
 K   | V  Q  E  F  E  H  I  N  G  R  W  S  M  P  E  L  M  P  D      p.1520

          .         .         .         .         .         .       g.27181
 CCCAGCGCCGATTCTAAGCGCTCCTCCAGAGCCTCCTCTCCTACCAAAACGTCTCCCACC       c.4620
 P  S  A  D  S  K  R  S  S  R  A  S  S  P  T  K  T  S  P  T         p.1540

          .         .         .         .       | 31 .         .    g.27335
 ACTCCTGAGGCTTCTGCTACCAACAGTCCCTGCACCTCTAAACCTG | CTACTCCAGCTCCA    c.4680
 T  P  E  A  S  A  T  N  S  P  C  T  S  K  P  A |   T  P  A  P      p.1560

          .         .         .         .         .         .       g.27395
 AGTGAGAAAGGAGAAGGCATAAGGACACCTCTTGAGAAGGAGGAAGCTGAAAACCAGGAG       c.4740
 S  E  K  G  E  G  I  R  T  P  L  E  K  E  E  A  E  N  Q  E         p.1580

          .         .         .         .         | 32         .    g.27560
 GAAAAGCCAGAGAAGAACAGCAGAATTGGGGAGAAGATGGAGACAGAG | GCTGATGCCCCC    c.4800
 E  K  P  E  K  N  S  R  I  G  E  K  M  E  T  E   | A  D  A  P      p.1600

          .         .         .         .         .         .       g.27620
 AGCCCAGCCCCATCACTTGGGGAGCGGCTGGAGCCAAGGAAGATTCCTCTAGAGGATGAG       c.4860
 S  P  A  P  S  L  G  E  R  L  E  P  R  K  I  P  L  E  D  E         p.1620

          .         .         .         .         .         .       g.27680
 GTGCCAGGGGTGCCTGGAGAGATGGAGCCTGAACCTGGGTACCGTGGGGACAGAGAGAAG       c.4920
 V  P  G  V  P  G  E  M  E  P  E  P  G  Y  R  G  D  R  E  K         p.1640

      | 33   .         .         .         .         .         .    g.27852
 TCAG | CCACAGAGTCGACGCCAGGAGAAAGGGGGGAGGAGAAGCCGTTGGATGGACAGGAA    c.4980
 S  A |   T  E  S  T  P  G  E  R  G  E  E  K  P  L  D  G  Q  E      p.1660

          .         .         .         .       | 34 .         .    g.28103
 CACAGGGAGAGGCCGGAGGGGGAAACAGGGGATTTGGGCAAGAGAG | AAGATGTAAAAGGT    c.5040
 H  R  E  R  P  E  G  E  T  G  D  L  G  K  R  E |   D  V  K  G      p.1680

          .         .         .         .         .         .       g.28163
 GACCGGGAGCTTCGACCAGGGCCTCGAGATGAGCCACGGTCCAATGGGCGACGAGAGGAA       c.5100
 D  R  E  L  R  P  G  P  R  D  E  P  R  S  N  G  R  R  E  E         p.1700

          .         .         .         .         .   | 35     .    g.28605
 AAGACAGAGAAGCCCCGGTTCATGTTCAATATCGCCGATGGTGGCTTCACAG | AGCTTCAC    c.5160
 K  T  E  K  P  R  F  M  F  N  I  A  D  G  G  F  T  E |   L  H      p.1720

          .         .         .         .         .         .       g.28665
 ACACTGTGGCAGAATGAGGAACGGGCAGCTATTTCCTCGGGGAAACTCAATGAGATCTGG       c.5220
 T  L  W  Q  N  E  E  R  A  A  I  S  S  G  K  L  N  E  I  W         p.1740

          .         .         .         .  | 36      .         .    g.28911
 CACAGAAGACATGACTATTGGCTTCTGGCTGGGATTGTCCT | CCATGGCTATGCACGGTGG    c.5280
 H  R  R  H  D  Y  W  L  L  A  G  I  V  L  |  H  G  Y  A  R  W      p.1760

          .         .         .         .         .         .       g.28971
 CAGGACATCCAGAATGATGCTCAATTTGCCATTATCAACGAGCCATTTAAAACTGAAGCC       c.5340
 Q  D  I  Q  N  D  A  Q  F  A  I  I  N  E  P  F  K  T  E  A         p.1780

          .         .         .         .         .     | 37   .    g.29344
 AATAAGGGGAACTTTCTGGAGATGAAAAATAAGTTCCTGGCCCGGAGGTTCAAG | CTCCTG    c.5400
 N  K  G  N  F  L  E  M  K  N  K  F  L  A  R  R  F  K   | L  L      p.1800

          .         .         .         .         .         .       g.29404
 GAGCAGGCGCTGGTGATTGAGGAGCAGCTGCGGCGGGCGGCCTACCTGAACCTGTCGCAG       c.5460
 E  Q  A  L  V  I  E  E  Q  L  R  R  A  A  Y  L  N  L  S  Q         p.1820

          .         .         .         .         .         .       g.29464
 GAGCCGGCGCACCCCGCCATGGCCCTCCACGCCCGCTTCGCCGAGGCCGAGTGCCTGGCC       c.5520
 E  P  A  H  P  A  M  A  L  H  A  R  F  A  E  A  E  C  L  A         p.1840

          .         .         .         .         .         .       g.29524
 GAGAGCCACCAGCACCTCTCCAAGGAGTCGCTGGCGGGGAACAAGCCGGCCAACGCCGTC       c.5580
 E  S  H  Q  H  L  S  K  E  S  L  A  G  N  K  P  A  N  A  V         p.1860

          . | 38       .         .         .         .         .    g.30673
 CTGCACAAGG | TTCTGAACCAGCTGGAGGAGTTGCTGAGCGACATGAAGGCGGACGTGACC    c.5640
 L  H  K  V |   L  N  Q  L  E  E  L  L  S  D  M  K  A  D  V  T      p.1880

          .         .         .         .         .         .       g.30733
 CGCCTGCCAGCCACGCTGTCCCGAATACCCCCCATCGCAGCCCGCCTTCAGATGTCCGAG       c.5700
 R  L  P  A  T  L  S  R  I  P  P  I  A  A  R  L  Q  M  S  E         p.1900

          .         .         .         .         .     | 39   .    g.31048
 CGCAGCATCCTCAGCCGGCTGGCCAGCAAGGGCACGGAGCCTCACCCCACACCG | GCCTAC    c.5760
 R  S  I  L  S  R  L  A  S  K  G  T  E  P  H  P  T  P   | A  Y      p.1920

          .         .         .         .         .         .       g.31108
 CCGCCGGGTCCCTACGCTACACCTCCGGGGTACGGGGCGGCCTTCAGCGCCGCACCCGTA       c.5820
 P  P  G  P  Y  A  T  P  P  G  Y  G  A  A  F  S  A  A  P  V         p.1940

          .         .         .         .         .         .       g.31168
 GGGGCCCTGGCCGCCGCAGGCGCCAATTACAGCCAGATGCCTGCAGGGTCCTTCATCACA       c.5880
 G  A  L  A  A  A  G  A  N  Y  S  Q  M  P  A  G  S  F  I  T         p.1960

   | 40      .         .         .         .         .         .    g.31718
 G | CCGCCACCAACGGCCCTCCAGTGCTTGTGAAGAAGGAGAAGGAAATGGTGGGGGCATTG    c.5940
 A |   A  T  N  G  P  P  V  L  V  K  K  E  K  E  M  V  G  A  L      p.1980

          .         .         .         .         .         .       g.31778
 GTGTCAGACGGGCTGGATCGGAAGGAGCCCCGAGCCGGGGAGGTGATCTGTATAGACGAC       c.6000
 V  S  D  G  L  D  R  K  E  P  R  A  G  E  V  I  C  I  D  D         p.2000

                                                                    g.31781
 TGA                                                                c.6003
 X                                                                  p.2000

          .         .         .         .         .         .       g.31841
 ctggatcccaggcctgcccttcacccaggccccgtccccgaggccgacccccagctcaag       c.*60

          .         .         .         .         .         .       g.31901
 cgctggggcctgctgccagccctccaccttccccaccccttgggccatcactgggctagg       c.*120

          .         .         .         .         .         .       g.31961
 aacccctttgcccctctctgcagctcctctcttcaagaagggccctttgtctttctccac       c.*180

          .         .         .         .         .         .       g.32021
 tcccacacacctttcccaccaagccttgaagactgtgctggtgagaagaagtctgggtgg       c.*240

          .         .         .         .         .         .       g.32081
 gagatggctggcagggtcttccaagtaccttcctcccacactgccaagtatacacaactt       c.*300

          .         .         .         .         .         .       g.32141
 cccagtaaatggttgtggggaggaaagaggtggagcctccccagccgtttccctgcagaa       c.*360

          .         .         .         .         .         .       g.32201
 tcagctctgtctcatgtggaagtggagaatcagccttgcctggcctttaggaacttttgt       c.*420

          .         .         .         .         .         .       g.32261
 ggggaagagagctttgaagagaggagggggactttagagagggatgaaaatgagccctgg       c.*480

          .         .         .         .         .         .       g.32321
 gagggaggaagggacgaggaggggtggctgcatgttaccgtcccctacctctccccacgt       c.*540

          .         .         .         .         .         .       g.32381
 ggagggtggagcagttatgagggaggaagtcaactgctgttcagcctcagaataaaggtg       c.*600

          .         .         .         .         .         .       g.32441
 ccgttcactggctcagttacctcctgtgtaccggcatcttgtgttgggaatgttcccccc       c.*660

          .         .         .         .         .         .       g.32501
 tccctagggaccaaggaccacccctacaaaaagagtaatggttgggtgatactccctcaa       c.*720

          .         .         .         .         .         .       g.32561
 gccaaagaggagctccccaacctgttctagggacccaggtaacctagaagggtgggagag       c.*780

          .         .         .         .         .         .       g.32621
 aatacaatgggccagatgtggtggaagcccagctctggggctcaggttcctggaagactt       c.*840

          .         .         .         .         .         .       g.32681
 ctactaccctccctcctcaaggcctggatacagactaaatttgtataagtcaggcagggg       c.*900

          .         .         .         .         .         .       g.32741
 acctagtcagggtcttgggagctaccttgtcgttgggaccagagcaaaatagtggagggc       c.*960

          .         .         .         .         .         .       g.32801
 aggctagggaaatgtgggcacatcccccctcccaggaggggccggggagagtggcagttt       c.*1020

          .         .         .         .         .         .       g.32861
 gcatggcgaaccccccacttcctctttgctgccccttcactttcttgctgcccctttccc       c.*1080

          .         .         .         .         .         .       g.32921
 agtctctcttcacacccactcctggtctgtcctgatcccctcttctgtatcaggtttatt       c.*1140

          .         .         .                                     g.32953
 ggttgtacatataaattatactttcctttctg                                   c.*1172

 (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 Chromodomain helicase DNA binding protein 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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