alpha thalassemia/mental retardation syndrome X-linked (ATRX) - coding DNA reference sequence

(used for variant description)

(last modified June 11, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_000489.3 in the ATRX gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000023.10, covering ATRX transcript NM_000489.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5052
         aattctcctgcctgagcctcggcccaacaaaatggcggcggcagcggtgtcg       c.-181

 .         .         .         .         .         .                g.5112
 ctttgtttccgcggctcctgcggcggtggcagtggtagcggcctttgagctgtggggagg       c.-121

 .         .         .         .         .         .                g.5172
 ttccagcagcagctacagtgacgactaagactccagtgcatttctatcgtaaccgggcgc       c.-61

 .         .         .         .         .         .                g.5232
 gggggagcgcagatcggcgcccagcaatcacagaagccgacaaggcgttcaagcgaaaac       c.-1

          .         . | 02       .         .         .         .    g.74039
 ATGACCGCTGAGCCCATGAG | TGAAAGCAAGTTGAATACATTGGTGCAGAAGCTTCATGAC    c.60
 M  T  A  E  P  M  S  |  E  S  K  L  N  T  L  V  Q  K  L  H  D      p.20

          .         .         .         .         .         .       g.74099
 TTCCTTGCACACTCATCAGAAGAATCTGAAGAAACAAGTTCTCCTCCACGACTTGCAATG       c.120
 F  L  A  H  S  S  E  E  S  E  E  T  S  S  P  P  R  L  A  M         p.40

          .    | 03    .         .         .         .         .    g.92649
 AATCAAAACACAG | ATAAAATCAGTGGTTCTGGAAGTAACTCTGATATGATGGAAAACAGC    c.180
 N  Q  N  T  D |   K  I  S  G  S  G  S  N  S  D  M  M  E  N  S      p.60

           | 04        .         .         .         .         .    g.93647
 AAGGAAGAG | GGAACTAGCTCTTCAGAAAAATCCAAGTCTTCAGGATCGTCACGATCAAAG    c.240
 K  E  E   | G  T  S  S  S  E  K  S  K  S  S  G  S  S  R  S  K      p.80

    | 05     .         .         .         .         .         .    g.94585
 AG | GAAACCTTCAATTGTAACAAAGTATGTAGAATCAGATGATGAAAAACCTTTGGATGAT    c.300
 R  |  K  P  S  I  V  T  K  Y  V  E  S  D  D  E  K  P  L  D  D      p.100

          .         .         .         .         .         .       g.94645
 GAAACTGTAAATGAAGATGCGTCTAATGAAAATTCAGAAAATGATATTACTATGCAGAGC       c.360
 E  T  V  N  E  D  A  S  N  E  N  S  E  N  D  I  T  M  Q  S         p.120

          . | 06       .         .         .         .         .    g.97343
 TTGCCAAAAG | GTACAGTGATTGTACAGCCAGAGCCAGTGCTGAATGAAGACAAAGATGAT    c.420
 L  P  K  G |   T  V  I  V  Q  P  E  P  V  L  N  E  D  K  D  D      p.140

          .         .         .         .         .         .       g.97403
 TTTAAAGGGCCTGAATTTAGAAGCAGAAGTAAAATGAAAACTGAAAATCTCAAAAAACGC       c.480
 F  K  G  P  E  F  R  S  R  S  K  M  K  T  E  N  L  K  K  R         p.160

      | 07   .         .         .         .         .         .    g.102355
 GGAG | AAGATGGGCTTCATGGGATTGTGAGCTGCACTGCTTGTGGACAACAGGTCAATCAT    c.540
 G  E |   D  G  L  H  G  I  V  S  C  T  A  C  G  Q  Q  V  N  H      p.180

          .         .         .         .         .     | 08   .    g.106227
 TTTCAAAAAGATTCCATTTATAGACACCCTTCATTGCAAGTTCTTATTTGTAAG | AATTGC    c.600
 F  Q  K  D  S  I  Y  R  H  P  S  L  Q  V  L  I  C  K   | N  C      p.200

          .         .         .         .         .         .       g.106287
 TTTAAGTATTACATGAGTGATGATATTAGCCGTGACTCAGATGGAATGGATGAACAATGT       c.660
 F  K  Y  Y  M  S  D  D  I  S  R  D  S  D  G  M  D  E  Q  C         p.220

    | 09     .         .         .         .         .         .    g.106692
 AG | GTGGTGTGCGGAAGGTGGAAACTTGATTTGTTGTGACTTTTGCCATAATGCTTTCTGC    c.720
 R  |  W  C  A  E  G  G  N  L  I  C  C  D  F  C  H  N  A  F  C      p.240

          .         .         .         .         .         .       g.106752
 AAGAAATGCATTCTACGCAACCTTGGTCGAAAGGAGTTGTCCACAATAATGGATGAAAAC       c.780
 K  K  C  I  L  R  N  L  G  R  K  E  L  S  T  I  M  D  E  N         p.260

          .         .         .         .         .         .       g.106812
 AACCAATGGTATTGCTACATTTGTCACCCAGAGCCTTTGTTGGACTTGGTCACTGCATGT       c.840
 N  Q  W  Y  C  Y  I  C  H  P  E  P  L  L  D  L  V  T  A  C         p.280

          .         .         .         .         .         .       g.106872
 AACAGCGTATTTGAGAATTTAGAACAGTTGTTGCAGCAAAATAAGAAGAAGATAAAAGTT       c.900
 N  S  V  F  E  N  L  E  Q  L  L  Q  Q  N  K  K  K  I  K  V         p.300

          .         .         .         .         .         .       g.106932
 GACAGTGAAAAGAGTAATAAAGTATATGAACATACATCCAGATTTTCTCCAAAGAAGACT       c.960
 D  S  E  K  S  N  K  V  Y  E  H  T  S  R  F  S  P  K  K  T         p.320

          .         .         .         .         .         .       g.106992
 AGTTCAAATTGTAATGGAGAAGAAAAGAAATTAGATGATTCCTGTTCTGGCTCTGTAACC       c.1020
 S  S  N  C  N  G  E  E  K  K  L  D  D  S  C  S  G  S  V  T         p.340

          .         .         .         .         .         .       g.107052
 TACTCTTATTCCGCACTAATTGTGCCCAAAGAGATGATTAAGAAGGCAAAAAAACTGATT       c.1080
 Y  S  Y  S  A  L  I  V  P  K  E  M  I  K  K  A  K  K  L  I         p.360

          .         .         .         .         .         .       g.107112
 GAGACCACAGCCAACATGAACTCCAGTTATGTTAAATTTTTAAAGCAGGCAACAGATAAT       c.1140
 E  T  T  A  N  M  N  S  S  Y  V  K  F  L  K  Q  A  T  D  N         p.380

          .         .         .         .         .         .       g.107172
 TCAGAAATCAGTTCTGCTACAAAATTACGTCAGCTTAAGGCTTTTAAGTCTGTGTTGGCT       c.1200
 S  E  I  S  S  A  T  K  L  R  Q  L  K  A  F  K  S  V  L  A         p.400

          .         .         .         .         .         .       g.107232
 GATATTAAGAAGGCTCATCTTGCATTGGAAGAAGACTTAAATTCCGAGTTTCGAGCGATG       c.1260
 D  I  K  K  A  H  L  A  L  E  E  D  L  N  S  E  F  R  A  M         p.420

          .         .         .         .         .         .       g.107292
 GATGCTGTAAACAAAGAGAAAAATACCAAAGAGCATAAAGTCATAGATGCTAAGTTTGAA       c.1320
 D  A  V  N  K  E  K  N  T  K  E  H  K  V  I  D  A  K  F  E         p.440

          .         .         .         .         .         .       g.107352
 ACAAAAGCACGAAAAGGAGAAAAACCTTGTGCTTTGGAAAAGAAGGATATTTCAAAGTCA       c.1380
 T  K  A  R  K  G  E  K  P  C  A  L  E  K  K  D  I  S  K  S         p.460

          .         .         .         .         .         .       g.107412
 GAAGCTAAACTTTCAAGAAAACAGGTAGATAGTGAGCACATGCATCAGAATGTTCCAACA       c.1440
 E  A  K  L  S  R  K  Q  V  D  S  E  H  M  H  Q  N  V  P  T         p.480

          .         .         .         .         .         .       g.107472
 GAGGAACAAAGAACAAATAAAAGTACCGGTGGTGAACATAAGAAATCTGATAGAAAAGAA       c.1500
 E  E  Q  R  T  N  K  S  T  G  G  E  H  K  K  S  D  R  K  E         p.500

          .         .         .         .         .         .       g.107532
 GAACCTCAATATGAACCTGCCAACACTTCTGAAGATTTAGACATGGATATTGTGTCTGTT       c.1560
 E  P  Q  Y  E  P  A  N  T  S  E  D  L  D  M  D  I  V  S  V         p.520

          .         .         .         .         .         .       g.107592
 CCTTCCTCAGTTCCAGAAGACATTTTTGAGAATCTTGAGACTGCTATGGAAGTTCAGAGT       c.1620
 P  S  S  V  P  E  D  I  F  E  N  L  E  T  A  M  E  V  Q  S         p.540

          .         .         .         .         .         .       g.107652
 TCAGTTGATCATCAAGGGGATGGCAGCAGTGGAACTGAACAAGAAGTGGAGAGTTCATCT       c.1680
 S  V  D  H  Q  G  D  G  S  S  G  T  E  Q  E  V  E  S  S  S         p.560

          .         .         .         .         .         .       g.107712
 GTAAAATTAAATATTTCTTCAAAAGACAACAGAGGAGGTATTAAATCAAAAACTACAGCT       c.1740
 V  K  L  N  I  S  S  K  D  N  R  G  G  I  K  S  K  T  T  A         p.580

          .         .         .         .         .         .       g.107772
 AAAGTAACAAAAGAATTATATGTTAAACTCACTCCTGTTTCCCTTTCTAATTCCCCAATT       c.1800
 K  V  T  K  E  L  Y  V  K  L  T  P  V  S  L  S  N  S  P  I         p.600

          .         .         .         .         .         .       g.107832
 AAAGGTGCTGATTGTCAGGAAGTTCCACAAGATAAAGATGGCTATAAAAGTTGTGGTCTG       c.1860
 K  G  A  D  C  Q  E  V  P  Q  D  K  D  G  Y  K  S  C  G  L         p.620

          .         .         .         .         .         .       g.107892
 AACCCCAAGTTAGAGAAATGTGGACTTGGACAGGAAAACAGTGATAATGAGCATTTGGTT       c.1920
 N  P  K  L  E  K  C  G  L  G  Q  E  N  S  D  N  E  H  L  V         p.640

          .         .         .         .         .         .       g.107952
 GAAAATGAAGTTTCATTACTTTTAGAGGAATCTGATCTTCGAAGATCCCCACGTGTAAAG       c.1980
 E  N  E  V  S  L  L  L  E  E  S  D  L  R  R  S  P  R  V  K         p.660

          .         .         .         .         .         .       g.108012
 ACTACACCCTTGAGGCGACCGACAGAAACTAACCCTGTAACATCTAATTCAGATGAAGAA       c.2040
 T  T  P  L  R  R  P  T  E  T  N  P  V  T  S  N  S  D  E  E         p.680

          .         .         .         .         .         .       g.108072
 TGTAATGAAACAGTTAAGGAGAAACAAAAACTATCAGTTCCAGTGAGAAAAAAGGATAAG       c.2100
 C  N  E  T  V  K  E  K  Q  K  L  S  V  P  V  R  K  K  D  K         p.700

          .         .         .         .         .         .       g.108132
 CGTAATTCTTCTGACAGTGCTATAGATAATCCTAAGCCTAATAAATTGCCAAAATCTAAG       c.2160
 R  N  S  S  D  S  A  I  D  N  P  K  P  N  K  L  P  K  S  K         p.720

          .         .         .         .         .         .       g.108192
 CAATCAGAGACTGTGGATCAAAATTCAGATTCTGATGAAATGCTAGCAATCCTCAAAGAG       c.2220
 Q  S  E  T  V  D  Q  N  S  D  S  D  E  M  L  A  I  L  K  E         p.740

          .         .         .         .         .         .       g.108252
 GTGAGCAGGATGAGTCACAGTTCTTCTTCAGATACTGATATTAATGAAATTCATACAAAC       c.2280
 V  S  R  M  S  H  S  S  S  S  D  T  D  I  N  E  I  H  T  N         p.760

          .         .         .         .         .         .       g.108312
 CATAAGACTTTGTATGATTTAAAGACTCAGGCGGGGAAAGATGATAAAGGAAAAAGGAAA       c.2340
 H  K  T  L  Y  D  L  K  T  Q  A  G  K  D  D  K  G  K  R  K         p.780

          .         .         .         .         .         .       g.108372
 CGAAAAAGTTCTACATCTGGCTCAGATTTTGATACTAAAAAGGGCAAATCAGCTAAGAGC       c.2400
 R  K  S  S  T  S  G  S  D  F  D  T  K  K  G  K  S  A  K  S         p.800

          .         .         .         .         .         .       g.108432
 TCTATAATTTCTAAAAAGAAACGACAAACCCAGTCTGAGTCTTCTAATTATGACTCAGAA       c.2460
 S  I  I  S  K  K  K  R  Q  T  Q  S  E  S  S  N  Y  D  S  E         p.820

          .         .         .         .         .         .       g.108492
 TTAGAAAAAGAGATAAAGAGCATGAGTAAAATTGGTGCTGCCAGAACCACCAAAAAAAGA       c.2520
 L  E  K  E  I  K  S  M  S  K  I  G  A  A  R  T  T  K  K  R         p.840

          .         .         .         .         .         .       g.108552
 ATTCCAAATACAAAAGATTTTGACTCTTCTGAAGATGAGAAACACAGCAAAAAAGGAATG       c.2580
 I  P  N  T  K  D  F  D  S  S  E  D  E  K  H  S  K  K  G  M         p.860

          .         .         .         .         .         .       g.108612
 GATAATCAAGGGCACAAAAATTTGAAGACCTCACAAGAAGGATCATCTGATGATGCTGAA       c.2640
 D  N  Q  G  H  K  N  L  K  T  S  Q  E  G  S  S  D  D  A  E         p.880

          .         .         .         .         .         .       g.108672
 AGAAAACAAGAGAGAGAGACTTTCTCTTCAGCAGAAGGCACAGTTGATAAAGACACGACC       c.2700
 R  K  Q  E  R  E  T  F  S  S  A  E  G  T  V  D  K  D  T  T         p.900

          .         .         .         .         .         .       g.108732
 ATCATGGAATTAAGAGATCGACTTCCTAAGAAGCAGCAAGCAAGTGCTTCCACTGATGGT       c.2760
 I  M  E  L  R  D  R  L  P  K  K  Q  Q  A  S  A  S  T  D  G         p.920

          .         .         .         .         .         .       g.108792
 GTCGATAAGCTTTCTGGGAAAGAGCAGAGTTTTACTTCTTTGGAAGTTAGAAAAGTTGCT       c.2820
 V  D  K  L  S  G  K  E  Q  S  F  T  S  L  E  V  R  K  V  A         p.940

          .         .         .         .         .         .       g.108852
 GAAACTAAAGAAAAGAGCAAGCATCTCAAAACCAAAACATGTAAAAAAGTACAGGATGGC       c.2880
 E  T  K  E  K  S  K  H  L  K  T  K  T  C  K  K  V  Q  D  G         p.960

          .         .         .         .         .         .       g.108912
 TTATCTGATATTGCAGAGAAATTCCTAAAGAAAGACCAGAGCGATGAAACTTCTGAAGAT       c.2940
 L  S  D  I  A  E  K  F  L  K  K  D  Q  S  D  E  T  S  E  D         p.980

          .         .         .         .         .         .       g.108972
 GATAAAAAGCAGAGCAAAAAGGGAACTGAAGAAAAAAAGAAACCTTCAGACTTTAAGAAA       c.3000
 D  K  K  Q  S  K  K  G  T  E  E  K  K  K  P  S  D  F  K  K         p.1000

          .         .         .         .         .         .       g.109032
 AAAGTAATTAAAATGGAACAACAGTATGAATCTTCATCTGATGGCACTGAAAAGTTACCT       c.3060
 K  V  I  K  M  E  Q  Q  Y  E  S  S  S  D  G  T  E  K  L  P         p.1020

          .         .         .         .         .         .       g.109092
 GAGCGAGAAGAAATTTGTCATTTTCCTAAGGGCATAAAACAAATTAAGAATGGAACAACT       c.3120
 E  R  E  E  I  C  H  F  P  K  G  I  K  Q  I  K  N  G  T  T         p.1040

          .         .         .         .         .         .       g.109152
 GATGGAGAAAAGAAAAGTAAAAAAATAAGAGATAAAACTTCTAAAAAGAAGGATGAATTA       c.3180
 D  G  E  K  K  S  K  K  I  R  D  K  T  S  K  K  K  D  E  L         p.1060

          .         .         .         .         .         .       g.109212
 TCTGATTATGCTGAGAAGTCAACAGGGAAAGGAGATAGTTGTGACTCTTCAGAGGATAAA       c.3240
 S  D  Y  A  E  K  S  T  G  K  G  D  S  C  D  S  S  E  D  K         p.1080

          .         .         .         .         .         .       g.109272
 AAGAGTAAGAATGGAGCATATGGTAGAGAGAAGAAAAGGTGCAAGTTGCTTGGAAAGAGT       c.3300
 K  S  K  N  G  A  Y  G  R  E  K  K  R  C  K  L  L  G  K  S         p.1100

          .         .         .         .         .         .       g.109332
 TCAAGGAAGAGACAAGATTGTTCATCATCTGATACTGAGAAATATTCCATGAAAGAAGAT       c.3360
 S  R  K  R  Q  D  C  S  S  S  D  T  E  K  Y  S  M  K  E  D         p.1120

          .         .         .         .         .         .       g.109392
 GGTTGTAACTCTTCTGATAAGAGACTGAAAAGAATAGAATTGAGGGAAAGAAGAAATTTA       c.3420
 G  C  N  S  S  D  K  R  L  K  R  I  E  L  R  E  R  R  N  L         p.1140

          .         .         .         .         .         .       g.109452
 AGTTCAAAGAGAAATACTAAGGAAATACAAAGTGGCTCATCATCATCTGATGCTGAGGAA       c.3480
 S  S  K  R  N  T  K  E  I  Q  S  G  S  S  S  S  D  A  E  E         p.1160

          .         .         .         .         .         .       g.109512
 AGTTCTGAAGATAATAAAAAGAAGAAGCAAAGAACTTCATCTAAAAAGAAGGCAGTCATT       c.3540
 S  S  E  D  N  K  K  K  K  Q  R  T  S  S  K  K  K  A  V  I         p.1180

          .         .         .         .         .         .       g.109572
 GTCAAGGAGAAAAAGAGAAACTCCCTAAGAACAAGCACTAAAAGGAAGCAAGCTGACATT       c.3600
 V  K  E  K  K  R  N  S  L  R  T  S  T  K  R  K  Q  A  D  I         p.1200

          .         .         .         .         .         .       g.109632
 ACATCCTCATCTTCTTCTGATATAGAAGATGATGATCAGAATTCTATAGGTGAGGGAAGC       c.3660
 T  S  S  S  S  S  D  I  E  D  D  D  Q  N  S  I  G  E  G  S         p.1220

          .         .         .         .         .         .       g.109692
 AGCGATGAACAGAAAATTAAGCCTGTGACTGAAAATTTAGTGCTGTCTTCACATACTGGA       c.3720
 S  D  E  Q  K  I  K  P  V  T  E  N  L  V  L  S  S  H  T  G         p.1240

          .       | 10 .         .         .         .         .    g.114970
 TTTTGCCAATCTTCAG | GAGATGAAGCCTTATCTAAATCAGTGCCTGTCACAGTGGATGAT    c.3780
 F  C  Q  S  S  G |   D  E  A  L  S  K  S  V  P  V  T  V  D  D      p.1260

          .         .          | 11        .         .         .    g.126483
 GATGATGACGACAATGATCCTGAGAATAG | AATTGCCAAGAAGATGCTTTTAGAAGAAATT    c.3840
 D  D  D  D  N  D  P  E  N  R  |  I  A  K  K  M  L  L  E  E  I      p.1280

          .         .         .         .         .         .       g.126543
 AAAGCCAATCTTTCCTCTGATGAGGATGGATCTTCAGATGATGAGCCAGAAGAAGGGAAA       c.3900
 K  A  N  L  S  S  D  E  D  G  S  S  D  D  E  P  E  E  G  K         p.1300

          .         .         .         .    | 12    .         .    g.127689
 AAAAGAACTGGAAAACAAAATGAAGAAAACCCAGGAGATGAGG | AAGCAAAAAATCAAGTC    c.3960
 K  R  T  G  K  Q  N  E  E  N  P  G  D  E  E |   A  K  N  Q  V      p.1320

          .         .         .         .         .         .       g.127749
 AATTCTGAATCAGATTCAGATTCTGAAGAATCTAAGAAGCCAAGATACAGACATAGGCTT       c.4020
 N  S  E  S  D  S  D  S  E  E  S  K  K  P  R  Y  R  H  R  L         p.1340

          .         .         .         .         .         .       g.127809
 TTGCGGCACAAATTGACTGTGAGTGACGGAGAATCTGGAGAAGAAAAAAAGACAAAGCCT       c.4080
 L  R  H  K  L  T  V  S  D  G  E  S  G  E  E  K  K  T  K  P         p.1360

          .         .         .         . | 13       .         .    g.134596
 AAAGAGCATAAAGAAGTCAAAGGCAGAAACAGAAGAAAGG | TGAGCAGTGAAGATTCAGAA    c.4140
 K  E  H  K  E  V  K  G  R  N  R  R  K  V |   S  S  E  D  S  E      p.1380

          .         .         .         .         .         .       g.134656
 GATTCTGATTTTCAGGAATCAGGAGTTAGTGAAGAAGTTAGTGAATCCGAAGATGAACAG       c.4200
 D  S  D  F  Q  E  S  G  V  S  E  E  V  S  E  S  E  D  E  Q         p.1400

          .     | 14   .         .         .         .         .    g.137075
 CGGCCCAGAACAAG | GTCTGCAAAGAAAGCAGAGTTGGAAGAAAATCAGCGGAGCTATAAA    c.4260
 R  P  R  T  R  |  S  A  K  K  A  E  L  E  E  N  Q  R  S  Y  K      p.1420

          .         .         .         .         .        | 15.    g.138879
 CAGAAAAAGAAAAGGCGACGTATTAAGGTTCAAGAAGATTCATCCAGTGAAAACAAG | AGT    c.4320
 Q  K  K  K  R  R  R  I  K  V  Q  E  D  S  S  S  E  N  K   | S      p.1440

          .         .         .         .         .         .       g.138939
 AATTCTGAGGAAGAAGAGGAGGAAAAAGAAGAGGAGGAGGAAGAGGAGGAGGAGGAGGAA       c.4380
 N  S  E  E  E  E  E  E  K  E  E  E  E  E  E  E  E  E  E  E         p.1460

          .         .         .         .         .         .       g.138999
 GAGGAGGAGGAAGATGAAAATGATGATTCCAAGTCTCCTGGAAAAGGCAGAAAGAAAATT       c.4440
 E  E  E  E  D  E  N  D  D  S  K  S  P  G  K  G  R  K  K  I         p.1480

          .         .         .         .         .         .       g.139059
 CGGAAGATTCTTAAAGATGATAAACTGAGAACAGAAACACAAAATGCTCTTAAGGAAGAG       c.4500
 R  K  I  L  K  D  D  K  L  R  T  E  T  Q  N  A  L  K  E  E         p.1500

          .         .         .         .         .        | 16.    g.155175
 GAAGAGAGACGAAAACGTATTGCTGAGAGGGAGCGTGAGCGAGAAAAATTGAGAGAG | GTG    c.4560
 E  E  R  R  K  R  I  A  E  R  E  R  E  R  E  K  L  R  E   | V      p.1520

          .         .         .         .         .         .       g.155235
 ATAGAAATTGAAGATGCTTCACCCACCAAGTGTCCAATAACAACCAAGTTGGTTTTAGAT       c.4620
 I  E  I  E  D  A  S  P  T  K  C  P  I  T  T  K  L  V  L  D         p.1540

          .         .         .         .         .         .       g.155295
 GAAGATGAAGAAACCAAAGAACCTTTAGTGCAGGTTCATAGAAATATGGTTATCAAATTG       c.4680
 E  D  E  E  T  K  E  P  L  V  Q  V  H  R  N  M  V  I  K  L         p.1560

          .          | 17        .         .         .         .    g.156566
 AAACCCCATCAAGTAGATG | GTGTTCAGTTTATGTGGGATTGCTGCTGTGAGTCTGTGAAA    c.4740
 K  P  H  Q  V  D  G |   V  Q  F  M  W  D  C  C  C  E  S  V  K      p.1580

          .         .         .         .         .         .       g.156626
 AAAACAAAGAAATCTCCAGGTTCAGGATGCATTCTTGCCCACTGTATGGGCCTTGGTAAG       c.4800
 K  T  K  K  S  P  G  S  G  C  I  L  A  H  C  M  G  L  G  K         p.1600

           | 18        .         .         .         .         .    g.157570
 ACTTTACAG | GTGGTAAGTTTTCTTCATACAGTTCTTTTGTGTGACAAACTGGATTTCAGC    c.4860
 T  L  Q   | V  V  S  F  L  H  T  V  L  L  C  D  K  L  D  F  S      p.1620

          .         .         .         .         .         .       g.157630
 ACGGCGTTAGTGGTTTGTCCTCTTAATACTGCTTTGAATTGGATGAATGAATTTGAGAAG       c.4920
 T  A  L  V  V  C  P  L  N  T  A  L  N  W  M  N  E  F  E  K         p.1640

          .         .         .       | 19 .         .         .    g.157871
 TGGCAAGAGGGATTAAAAGATGATGAGAAGCTTGAG | GTTTCTGAATTAGCAACTGTGAAA    c.4980
 W  Q  E  G  L  K  D  D  E  K  L  E   | V  S  E  L  A  T  V  K      p.1660

          .         .         .         .         .         .       g.157931
 CGTCCTCAGGAGAGAAGCTACATGCTGCAGAGGTGGCAAGAAGATGGTGGTGTTATGATC       c.5040
 R  P  Q  E  R  S  Y  M  L  Q  R  W  Q  E  D  G  G  V  M  I         p.1680

          .         .         .         .         .         .       g.157991
 ATAGGCTATGAGATGTATAGAAATCTTGCTCAAGGAAGGAATGTGAAGAGTCGGAAACTT       c.5100
 I  G  Y  E  M  Y  R  N  L  A  Q  G  R  N  V  K  S  R  K  L         p.1700

          .         .         .     | 20   .         .         .    g.170745
 AAAGAAATATTTAACAAAGCTTTGGTTGATCCAG | GCCCTGATTTTGTTGTTTGTGATGAA    c.5160
 K  E  I  F  N  K  A  L  V  D  P  G |   P  D  F  V  V  C  D  E      p.1720

          .         .         .         .         .         .       g.170805
 GGCCATATTCTAAAAAATGAAGCATCTGCTGTTTCTAAAGCTATGAATTCTATACGATCA       c.5220
 G  H  I  L  K  N  E  A  S  A  V  S  K  A  M  N  S  I  R  S         p.1740

          .         .         .         .         .   | 21     .    g.172278
 AGGAGGAGGATTATTTTAACAGGAACACCACTTCAAAATAACCTAATTGAGT | ATCATTGT    c.5280
 R  R  R  I  I  L  T  G  T  P  L  Q  N  N  L  I  E  Y |   H  C      p.1760

          .         .         .         .         .         .       g.172338
 ATGGTTAATTTTATCAAGGAAAATTTACTTGGATCCATTAAGGAGTTCAGGAATAGATTT       c.5340
 M  V  N  F  I  K  E  N  L  L  G  S  I  K  E  F  R  N  R  F         p.1780

          .         .         .         .         .         .       g.172398
 ATAAATCCAATTCAAAATGGTCAGTGTGCAGATTCTACCATGGTAGATGTCAGAGTGATG       c.5400
 I  N  P  I  Q  N  G  Q  C  A  D  S  T  M  V  D  V  R  V  M         p.1800

          .         .         .         .         | 22         .    g.174533
 AAAAAACGTGCTCACATTCTCTATGAGATGTTAGCTGGATGTGTTCAG | AGGAAAGATTAT    c.5460
 K  K  R  A  H  I  L  Y  E  M  L  A  G  C  V  Q   | R  K  D  Y      p.1820

          .         .         .         .         .         .       g.174593
 ACAGCATTAACAAAATTCTTGCCTCCAAAACACGAATATGTGTTAGCTGTGAGAATGACT       c.5520
 T  A  L  T  K  F  L  P  P  K  H  E  Y  V  L  A  V  R  M  T         p.1840

          .         .         .         .       | 23 .         .    g.190700
 TCTATTCAGTGCAAGCTCTATCAGTACTACTTAGATCACTTAACAG | GTGTGGGCAATAAT    c.5580
 S  I  Q  C  K  L  Y  Q  Y  Y  L  D  H  L  T  G |   V  G  N  N      p.1860

          .         .         .         .         .         .       g.190760
 AGTGAAGGTGGAAGAGGAAAGGCAGGTGCAAAGCTTTTCCAAGATTTTCAGATGTTAAGT       c.5640
 S  E  G  G  R  G  K  A  G  A  K  L  F  Q  D  F  Q  M  L  S         p.1880

          .         .         .         .         .        | 24.    g.191433
 AGAATATGGACTCATCCTTGGTGTTTGCAGCTAGACTACATTAGCAAAGAAAATAAG | GGT    c.5700
 R  I  W  T  H  P  W  C  L  Q  L  D  Y  I  S  K  E  N  K   | G      p.1900

          .         .         .         .         .         .       g.191493
 TATTTTGATGAAGACAGTATGGATGAATTTATAGCCTCAGATTCTGATGAAACCTCCATG       c.5760
 Y  F  D  E  D  S  M  D  E  F  I  A  S  D  S  D  E  T  S  M         p.1920

          .         .       | 25 .         .         .         .    g.191704
 AGTTTAAGCTCCGATGATTATACAAA | AAAGAAGAAAAAAGGGAAAAAGGGGAAAAAAGAT    c.5820
 S  L  S  S  D  D  Y  T  K  |  K  K  K  K  G  K  K  G  K  K  D      p.1940

          .         .         .         .         .         .       g.191764
 AGTAGCTCAAGTGGAAGTGGCAGTGACAATGATGTTGAAGTGATTAAGGTCTGGAATTCA       c.5880
 S  S  S  S  G  S  G  S  D  N  D  V  E  V  I  K  V  W  N  S         p.1960

          .         .         .         .         .         .       g.191824
 AGATCTCGGGGAGGTGGTGAAGGAAATGTGGATGAAACAGGAAACAATCCTTCTGTTTCT       c.5940
 R  S  R  G  G  G  E  G  N  V  D  E  T  G  N  N  P  S  V  S         p.1980

          .       | 26 .         .         .         .         .    g.197444
 TTAAAACTGGAAGAAA | GTAAAGCTACTTCTTCTTCTAATCCAAGCAGCCCAGCTCCAGAC    c.6000
 L  K  L  E  E  S |   K  A  T  S  S  S  N  P  S  S  P  A  P  D      p.2000

          .         .         .         .         .         .       g.197504
 TGGTACAAAGATTTTGTTACAGATGCTGATGCTGAGGTTTTAGAGCATTCTGGGAAAATG       c.6060
 W  Y  K  D  F  V  T  D  A  D  A  E  V  L  E  H  S  G  K  M         p.2020

          .         .         .         .         . | 27       .    g.201319
 GTACTTCTCTTTGAAATTCTTCGAATGGCAGAGGAAATTGGGGATAAAGT | CCTTGTTTTC    c.6120
 V  L  L  F  E  I  L  R  M  A  E  E  I  G  D  K  V  |  L  V  F      p.2040

          .         .         .         .         .         .       g.201379
 AGCCAGTCCCTCATATCTCTGGACTTGATTGAAGATTTTCTTGAATTAGCTAGTAGGGAG       c.6180
 S  Q  S  L  I  S  L  D  L  I  E  D  F  L  E  L  A  S  R  E         p.2060

          .         .         .        | 28.         .         .    g.216919
 AAGACAGAAGATAAAGATAAACCCCTTATTTATAAAG | GTGAGGGGAAGTGGCTTCGAAAC    c.6240
 K  T  E  D  K  D  K  P  L  I  Y  K  G |   E  G  K  W  L  R  N      p.2080

          .         .         .         .         .         .       g.216979
 ATTGACTATTACCGTTTAGATGGTTCCACTACTGCACAGTCAAGGAAGAAGTGGGCTGAA       c.6300
 I  D  Y  Y  R  L  D  G  S  T  T  A  Q  S  R  K  K  W  A  E         p.2100

          .         .       | 29 .         .         .         .    g.232436
 GAATTTAATGATGAAACTAATGTGAG | AGGACGATTATTTATCATTTCTACTAAAGCAGGA    c.6360
 E  F  N  D  E  T  N  V  R  |  G  R  L  F  I  I  S  T  K  A  G      p.2120

          .         .         .         .         .         .       g.232496
 TCTCTAGGAATTAATCTGGTAGCTGCTAATCGAGTAATTATATTCGACGCTTCTTGGAAT       c.6420
 S  L  G  I  N  L  V  A  A  N  R  V  I  I  F  D  A  S  W  N         p.2140

          .         .         .         .         .         .       g.232556
 CCATCTTATGACATCCAGAGTATATTCAGAGTTTATCGCTTTGGACAAACTAAGCCTGTT       c.6480
 P  S  Y  D  I  Q  S  I  F  R  V  Y  R  F  G  Q  T  K  P  V         p.2160

          .         .     | 30   .         .         .         .    g.233639
 TATGTATATAGGTTCTTAGCTCAG | GGAACCATGGAAGATAAGATTTATGATCGGCAAGTA    c.6540
 Y  V  Y  R  F  L  A  Q   | G  T  M  E  D  K  I  Y  D  R  Q  V      p.2180

          .         .         .         .         .         .       g.233699
 ACTAAGCAGTCACTGTCTTTTCGAGTTGTTGATCAGCAGCAGGTGGAGCGTCATTTTACT       c.6600
 T  K  Q  S  L  S  F  R  V  V  D  Q  Q  Q  V  E  R  H  F  T         p.2200

          .         .         .         .         .         .       g.233759
 ATGAATGAGCTTACTGAACTTTATACTTTTGAGCCAGACTTATTAGATGACCCTAATTCA       c.6660
 M  N  E  L  T  E  L  Y  T  F  E  P  D  L  L  D  D  P  N  S         p.2220

          .         .         .          | 31        .         .    g.267861
 GAAAAGAAGAAGAAGAGGGATACTCCCATGCTGCCAAAG | GATACCATACTTGCAGAGCTC    c.6720
 E  K  K  K  K  R  D  T  P  M  L  P  K   | D  T  I  L  A  E  L      p.2240

          .         .         .         .         .         .       g.267921
 CTTCAGATACATAAAGAACACATTGTAGGATACCATGAACATGATTCTCTTTTGGACCAC       c.6780
 L  Q  I  H  K  E  H  I  V  G  Y  H  E  H  D  S  L  L  D  H         p.2260

          .         .         .         .         .         .       g.267981
 AAAGAAGAAGAAGAGTTGACTGAAGAAGAAAGAAAAGCAGCTTGGGCTGAGTATGAAGCA       c.6840
 K  E  E  E  E  L  T  E  E  E  R  K  A  A  W  A  E  Y  E  A         p.2280

           | 32        .         .         .         .         .    g.268904
 GAGAAGAAG | GGACTGACCATGCGTTTCAACATACCAACTGGGACCAATTTACCCCCTGTC    c.6900
 E  K  K   | G  L  T  M  R  F  N  I  P  T  G  T  N  L  P  P  V      p.2300

          .         .         .         .         .         .       g.268964
 AGTTTCAACTCTCAAACTCCTTATATTCCTTTCAATTTGGGAGCCCTGTCAGCAATGAGT       c.6960
 S  F  N  S  Q  T  P  Y  I  P  F  N  L  G  A  L  S  A  M  S         p.2320

          .      | 33  .         .         .         .         .    g.269788
 AATCAACAGCTGGAG | GACCTCATTAATCAAGGAAGAGAAAAAGTTGTAGAAGCAACAAAC    c.7020
 N  Q  Q  L  E   | D  L  I  N  Q  G  R  E  K  V  V  E  A  T  N      p.2340

          .         .         .         .         .  | 34      .    g.270334
 AGTGTGACAGCAGTGAGGATTCAACCTCTTGAGGATATAATTTCAGCTGTA | TGGAAGGAG    c.7080
 S  V  T  A  V  R  I  Q  P  L  E  D  I  I  S  A  V   | W  K  E      p.2360

          .         .         .         .         .         .       g.270394
 AACATGAATCTCTCAGAGGCCCAAGTACAGGCGTTAGCATTAAGTAGACAAGCCAGCCAG       c.7140
 N  M  N  L  S  E  A  Q  V  Q  A  L  A  L  S  R  Q  A  S  Q         p.2380

          .         .         .         .         .         .       g.270454
 GAGCTTGATGTTAAACGAAGAGAAGCAATCTACAATGATGTATTGACAAAACAACAGATG       c.7200
 E  L  D  V  K  R  R  E  A  I  Y  N  D  V  L  T  K  Q  Q  M         p.2400

  | 35       .         .         .         .         .         .    g.282672
  | TTAATCAGCTGTGTTCAGCGAATACTTATGAACAGAAGGCTCCAGCAGCAGTACAATCAG    c.7260
  | L  I  S  C  V  Q  R  I  L  M  N  R  R  L  Q  Q  Q  Y  N  Q      p.2420

          .         .         .         .         .         .       g.282732
 CAGCAACAGCAACAAATGACTTATCAACAAGCAACACTGGGTCACCTCATGATGCCAAAG       c.7320
 Q  Q  Q  Q  Q  M  T  Y  Q  Q  A  T  L  G  H  L  M  M  P  K         p.2440

          .         .         .         .         .         .       g.282792
 CCCCCAAATTTGATCATGAATCCTTCTAACTACCAGCAGATTGATATGAGAGGAATGTAT       c.7380
 P  P  N  L  I  M  N  P  S  N  Y  Q  Q  I  D  M  R  G  M  Y         p.2460

          .         .         .         .         .         .       g.282852
 CAGCCAGTGGCTGGTGGTATGCAGCCACCACCATTACAGCGTGCACCACCCCCAATGAGA       c.7440
 Q  P  V  A  G  G  M  Q  P  P  P  L  Q  R  A  P  P  P  M  R         p.2480

          .         .         .                                     g.282891
 AGCAAAAATCCAGGACCTTCCCAAGGGAAATCAATGTGA                            c.7479
 S  K  N  P  G  P  S  Q  G  K  S  M  X                              p.2492

          .         .         .         .         .         .       g.282951
 ttttgcactaaaagcttaatggattgttaaaatcatagaaagatcttttatttttttagg       c.*60

          .         .         .         .         .         .       g.283011
 aatcaatgacttaacagaactcaactgtataaatagtttggtccccttaaatgccaatct       c.*120

          .         .         .         .         .         .       g.283071
 tccatattagttttactttttttttttttaaatagggcataccatttcttcctgacattt       c.*180

          .         .         .         .         .         .       g.283131
 gtcagtgatgttgcctagaatcttcttacacacgctgagtacagaagatatttcaaattg       c.*240

          .         .         .         .         .         .       g.283191
 ttttcagtgaaaacaagtccttccataatagtaacaactccacagatttcctctctaaat       c.*300

          .         .         .         .         .         .       g.283251
 ttttatgcctgcttttagcaaccataaaattgtcataaaattaataaatttaggaaagaa       c.*360

          .         .         .         .         .         .       g.283311
 taaagatttatatattcattctttacatataaaaacacacagctgagttcttagagttga       c.*420

          .         .         .         .         .         .       g.283371
 ttcctcaagttatgaaatacttttgtacttaatccatttcttgattaaagtgattgaaat       c.*480

          .         .         .         .         .         .       g.283431
 ggttttaatgttcttttgactgaagtctgaaactgggctcctgctttattgtctctgtga       c.*540

          .         .         .         .         .         .       g.283491
 ctgaaagttagaaactgagggttatctttgacacagaattgtgtgcaatattcttaaata       c.*600

          .         .         .         .         .         .       g.283551
 ctactgctctaaaagttggagaagtcttgcagttatcttagcattgtataaacagcctta       c.*660

          .         .         .         .         .         .       g.283611
 agtatagcctaagaagagaattcctttttcttctttagtccttctgccattttttatttt       c.*720

          .         .         .         .         .         .       g.283671
 cagttatatgtgctgaaataattactggtaaaatttcagggttgtggattatcttccaca       c.*780

          .         .         .         .         .         .       g.283731
 catgaattttctctctcctggcacgaatataaagcacatctcttaactgcatggtgccag       c.*840

          .         .         .         .         .         .       g.283791
 tgctaatgcttcatcctgttgctggcagtgggatgtggacttagaaaatcaagttctagc       c.*900

          .         .         .         .         .         .       g.283851
 attttagtaggttaacactgaagttgtggttgttaggttcacaccctgttttataaacaa       c.*960

          .         .         .         .         .         .       g.283911
 catcaaaatggcagaaccattgctgactttaggttcacatgaggaatgtacttttaacaa       c.*1020

          .         .         .         .         .         .       g.283971
 ttcccagtactatcagtattgtgaaataattcctctgaaagataagaatcactggcttct       c.*1080

          .         .         .         .         .         .       g.284031
 atgcgcttcttttctctcatcatcatgttcttttaccccagtttccttacatttttttaa       c.*1140

          .         .         .         .         .         .       g.284091
 attgtttcagagtttgttttttttttagtttagattgtgaggcaattattaaatcaaaat       c.*1200

          .         .         .         .         .         .       g.284151
 taattcatccaatacccctttactagaagttttactagaaaatgtattacattttatttt       c.*1260

          .         .         .         .         .         .       g.284211
 ttcttaatccagttctgcaaaaatgacctataaatttattcatgtacaattttggttact       c.*1320

          .         .         .         .         .         .       g.284271
 tgaattgttaaagaaaacattgtttttgactatgggagtcaactcaacatggcagaacca       c.*1380

          .         .         .         .         .         .       g.284331
 tttttgagatgatgatacaacaggtagtgaaacagcttaagaattccaaaaaaaaaaaaa       c.*1440

          .         .         .         .         .         .       g.284391
 aaaaaaaaaaaaagaaaactgggtttgggctttgctttaggtatcactggattagaatga       c.*1500

          .         .         .         .         .         .       g.284451
 gtttaacattagctaaaactgctttgagttgtttggatgattaagagattgccattttta       c.*1560

          .         .         .         .         .         .       g.284511
 tcttggaagaactagtggtaaaacatccaagagcactaggattgtgatacagaatttgtg       c.*1620

          .         .         .         .         .         .       g.284571
 aggtttggtggatccacgcccctctcccccactttcccatgatgaaatatcactaataaa       c.*1680

          .         .         .         .         .         .       g.284631
 tcctgtatatttagatattatgctagccatgtaatcagatttatttaattgggtggggca       c.*1740

          .         .         .         .         .         .       g.284691
 ggtgtgtatttactttagaaaaaatgaaaaagacaagatttatgagaaatatttgaaggc       c.*1800

          .         .         .         .         .         .       g.284751
 agtacactctggccaactgttaccagttggtatttctacaagttcagaatattttaaacc       c.*1860

          .         .         .         .         .         .       g.284811
 tgatttactagacctgggaattttcaacatggtctaattatttactcaaagacatagatg       c.*1920

          .         .         .         .         .         .       g.284871
 tgaaaattttaggcaaccttctaaatctttttcaccatggatgaaactataacttaaaga       c.*1980

          .         .         .         .         .         .       g.284931
 ataatacttagaagggttaattggaaatcagagtttgaaataaaacttggaccactttgt       c.*2040

          .         .         .         .         .         .       g.284991
 atacactcttctcacttgacattttagctatataatatgtactttgagtataacatcaag       c.*2100

          .         .         .         .         .         .       g.285051
 ctttaacaaatatttaaagacaaaaaaatcacgtcagtaaaatactaaaaggctcatttt       c.*2160

          .         .         .         .         .         .       g.285111
 tatatttgttttagatgttttaaatagttgcaatggattaaaaatgatgatttaaaatgt       c.*2220

          .         .         .         .         .         .       g.285171
 tgcttgtaatacagttttgcctgctaaattctccacattttgtaacctgttttatttctt       c.*2280

          .         .         .         .         .         .       g.285231
 tgggtgtaaagcgtttttgcttagtattgtgatattgtatatgttttgtcccagttgtat       c.*2340

          .         .         .         .         .         .       g.285291
 agtaatgtttcagtccatcatccagctttggctgctgaaatcatacagctgtgaagactt       c.*2400

          .         .         .         .         .         .       g.285351
 gcctttgtttctgttagactgcttttcagttctgtattgagtatcttaagtactgtagaa       c.*2460

          .         .         .         .         .         .       g.285411
 aagatgtcacttcttcctttaaggctgttttgtaatatatataaggactggaattgtgtt       c.*2520

          .         .         .         .         .         .       g.285471
 tttaaagaaaagcattcaagtatgacaatatactatctgtgttttcaccattcaaagtgc       c.*2580

          .         .         .         .         .         .       g.285531
 tgtttagtagttgaaacttaaactatttaatgtcatttaataaagtgaccaaaatgtgtt       c.*2640

          .         .         .         .         .         .       g.285591
 gtgctctttattgtattttcacagctttgaaaatctgtgcacatactgtttcatagaaaa       c.*2700

          .         .         .         .         .         .       g.285651
 tgtatagcttttgttgtcctatataatggtggttcttttgcacatttagttatttaatat       c.*2760

          .         .         .         .         .         .       g.285711
 tgagaggtcacgaagtttggttattgaatctgttatatactaaattctgtaaagggagat       c.*2820

          .         .         .         .         .         .       g.285771
 ctctcatctcaaaaagaatttacataccaggaagtccatgtgtgtttgtgttagttttgg       c.*2880

          .         .         .         .         .         .       g.285831
 atgtctttgtgtaatccagccccatttcctgtttcccaacagctgtaacactcattttaa       c.*2940

          .         .         .         .         .         .       g.285891
 gtcaagcagggctaccaacccacacttgatagaaaagctgcttaccattcagaagcttcc       c.*3000

          .         .         .         .         .         .       g.285951
 ttattacctggcctccaaatgagctgaatattttgtagccttcccttagctatgttcatt       c.*3060

          .         .         .         .         .         .       g.286011
 ttccctccattatcataaaatcagatcgatatttatgtgccccaaacaaaactttaagag       c.*3120

          .         .         .         .         .         .       g.286071
 cagttacattctgtcccagtagcccttgtttcctttgagagtagcatgttgtgaggctat       c.*3180

          .         .         .         .         .         .       g.286131
 agagacttattctaccagtaaaacaggtcaatccttttacatgtttattatactaaaaat       c.*3240

          .         .         .         .         .         .       g.286191
 tatgttcagggtatttactactttatttcaccagactcagtctcaagtgacttggctatc       c.*3300

          .         .         .         .         .         .       g.286251
 tccaaatcagatctacccttagagaataaacatttttctaccgttattttttttcaagtc       c.*3360

          .         .         .         .         .         .       g.286311
 tataatctgagccagtcccaaaggagtgatcaagtttcagaaatgctttcatcttcacaa       c.*3420

          .         .         .         .         .                 g.286364
 cattttatatatactattatatggggtgaataaagttttaaatccgaaatata              c.*3473

 (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 Alpha thalassemia/mental retardation syndrome X-linked 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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