ataxia telangiectasia and Rad3 related (ATR) - coding DNA reference sequence

(used for variant description)

(last modified February 13, 2025)


This file was created to facilitate the description of sequence variants on transcript NM_001184.3 in the ATR gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000003.11, covering ATR transcript NM_001184.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5002
                                                           tt       c.-121

 .         .         .         .         .         .                g.5062
 ccgggaggagttttggcctccacacggctccgtcgggcgccgcgctcttccggcagcggt       c.-61

 .         .         .         .         .         .                g.5122
 agctttggagacgccgggaacccgcgttggcgtggttgactagtgcctcgcagcctcagc       c.-1

          .         .         .         .         .          | 02    g.15673
 ATGGGGGAACATGGCCTGGAGCTGGCTTCCATGATCCCCGCCCTGCGGGAGCTGGGCAG | T    c.60
 M  G  E  H  G  L  E  L  A  S  M  I  P  A  L  R  E  L  G  S  |      p.20

          .         .         .         .         .         .       g.15733
 GCCACACCAGAGGAATATAATACAGTTGTACAGAAGCCAAGACAAATTCTGTGTCAATTC       c.120
 A  T  P  E  E  Y  N  T  V  V  Q  K  P  R  Q  I  L  C  Q  F         p.40

          .         .         .  | 03      .         .         .    g.17594
 ATTGACCGGATACTTACAGATGTAAATGTTG | TTGCTGTAGAACTTGTAAAGAAAACTGAC    c.180
 I  D  R  I  L  T  D  V  N  V  V |   A  V  E  L  V  K  K  T  D      p.60

          .         .         .         .         .         .       g.17654
 TCTCAGCCAACCTCCGTGATGTTGCTTGATTTCATCCAGCATATCATGAAATCCTCCCCA       c.240
 S  Q  P  T  S  V  M  L  L  D  F  I  Q  H  I  M  K  S  S  P         p.80

          .         .         .         .         .   | 04     .    g.20725
 CTTATGTTTGTAAATGTGAGTGGAAGCCATGAGGCCAAAGGCAGTTGTATTG | AATTCAGT    c.300
 L  M  F  V  N  V  S  G  S  H  E  A  K  G  S  C  I  E |   F  S      p.100

          .         .         .         .         .         .       g.20785
 AATTGGATCATAACGAGACTTCTGCGGATTGCAGCAACTCCCTCCTGTCATTTGTTACAC       c.360
 N  W  I  I  T  R  L  L  R  I  A  A  T  P  S  C  H  L  L  H         p.120

          .         .         .         .         .         .       g.20845
 AAGAAAATCTGTGAAGTCATCTGTTCATTATTATTTCTTTTTAAAAGCAAGAGTCCTGCT       c.420
 K  K  I  C  E  V  I  C  S  L  L  F  L  F  K  S  K  S  P  A         p.140

          .         .         .         .         .         .       g.20905
 ATTTTTGGGGTACTCACAAAAGAATTATTACAACTTTTTGAAGACTTGGTTTACCTCCAT       c.480
 I  F  G  V  L  T  K  E  L  L  Q  L  F  E  D  L  V  Y  L  H         p.160

          .         .         .         .         .         .       g.20965
 AGAAGAAATGTGATGGGTCATGCTGTGGAATGGCCAGTGGTCATGAGCCGATTTTTAAGT       c.540
 R  R  N  V  M  G  H  A  V  E  W  P  V  V  M  S  R  F  L  S         p.180

          .         .         .         .         .         .       g.21025
 CAATTAGATGAACACATGGGATATTTACAATCAGCTCCTTTGCAGTTGATGAGTATGCAA       c.600
 Q  L  D  E  H  M  G  Y  L  Q  S  A  P  L  Q  L  M  S  M  Q         p.200

          .         .         .         .         .         .       g.21085
 AATTTAGAATTTATTGAAGTCACTTTATTAATGGTTCTTACTCGTATTATTGCAATTGTG       c.660
 N  L  E  F  I  E  V  T  L  L  M  V  L  T  R  I  I  A  I  V         p.220

          .         .         .         .         .         .       g.21145
 TTTTTTAGAAGGCAAGAACTCTTACTTTGGCAGATAGGTTGTGTTCTGCTAGAGTATGGT       c.720
 F  F  R  R  Q  E  L  L  L  W  Q  I  G  C  V  L  L  E  Y  G         p.240

          .         .         .         .         .         .       g.21205
 AGTCCAAAAATTAAATCCCTAGCAATTAGCTTTTTAACAGAACTTTTTCAGCTTGGAGGA       c.780
 S  P  K  I  K  S  L  A  I  S  F  L  T  E  L  F  Q  L  G  G         p.260

          .         .         .         .         .         .       g.21265
 CTACCAGCACAACCAGCTAGCACTTTTTTCAGCTCATTTTTGGAATTATTAAAACACCTT       c.840
 L  P  A  Q  P  A  S  T  F  F  S  S  F  L  E  L  L  K  H  L         p.280

          .         .         .         .         .         .       g.21325
 GTAGAAATGGATACTGACCAATTGAAACTCTATGAAGAGCCATTATCAAAGCTGATAAAG       c.900
 V  E  M  D  T  D  Q  L  K  L  Y  E  E  P  L  S  K  L  I  K         p.300

          .         .         .         .         .         .       g.21385
 ACACTATTTCCCTTTGAAGCAGAAGCTTATAGAAATATTGAACCTGTCTATTTAAATATG       c.960
 T  L  F  P  F  E  A  E  A  Y  R  N  I  E  P  V  Y  L  N  M         p.320

          .         .         .         .         .         .       g.21445
 CTGCTGGAAAAACTCTGTGTCATGTTTGAAGACGGTGTGCTCATGCGGCTTAAGTCTGAT       c.1020
 L  L  E  K  L  C  V  M  F  E  D  G  V  L  M  R  L  K  S  D         p.340

          .         .         .         .         .         .       g.21505
 TTGCTAAAAGCAGCTTTGTGCCATTTACTGCAGTATTTCCTTAAATTTGTGCCAGCTGGG       c.1080
 L  L  K  A  A  L  C  H  L  L  Q  Y  F  L  K  F  V  P  A  G         p.360

          .         .         .         .         .         .       g.21565
 TATGAATCTGCTTTACAAGTCAGGAAGGTCTATGTGAGAAATATTTGTAAAGCTCTTTTG       c.1140
 Y  E  S  A  L  Q  V  R  K  V  Y  V  R  N  I  C  K  A  L  L         p.380

          .         .         . | 05       .         .         .    g.22435
 GATGTGCTTGGAATTGAGGTAGATGCAGAG | TACTTGTTGGGCCCACTTTATGCAGCTTTG    c.1200
 D  V  L  G  I  E  V  D  A  E   | Y  L  L  G  P  L  Y  A  A  L      p.400

          .         .         .         .         .         .       g.22495
 AAAATGGAAAGTATGGAAATCATTGAGGAGATTCAATGCCAAACTCAACAGGAAAACCTC       c.1260
 K  M  E  S  M  E  I  I  E  E  I  Q  C  Q  T  Q  Q  E  N  L         p.420

          .         .         .         .         .         .       g.22555
 AGCAGTAATAGTGATGGAATATCACCCAAAAGGCGTCGTCTCAGCTCGTCTCTAAACCCT       c.1320
 S  S  N  S  D  G  I  S  P  K  R  R  R  L  S  S  S  L  N  P         p.440

          .         .          | 06        .         .         .    g.23403
 TCTAAAAGAGCACCAAAACAGACTGAGGA | AATTAAACATGTGGACATGAACCAAAAGAGC    c.1380
 S  K  R  A  P  K  Q  T  E  E  |  I  K  H  V  D  M  N  Q  K  S      p.460

          .         .         .         .         .         .       g.23463
 ATATTATGGAGTGCACTGAAACAGAAAGCTGAATCCCTTCAGATTTCCCTTGAATACAGT       c.1440
 I  L  W  S  A  L  K  Q  K  A  E  S  L  Q  I  S  L  E  Y  S         p.480

          .         .         .         .         .         .       g.23523
 GGCCTAAAGAATCCTGTTATTGAGATGTTAGAAGGAATTGCTGTTGTCTTACAACTGACT       c.1500
 G  L  K  N  P  V  I  E  M  L  E  G  I  A  V  V  L  Q  L  T         p.500

          .         .         .         .  | 07      .         .    g.24404
 GCTCTGTGTACTGTTCATTGTTCTCATCAAAACATGAACTG | CCGTACTTTCAAGGACTGT    c.1560
 A  L  C  T  V  H  C  S  H  Q  N  M  N  C  |  R  T  F  K  D  C      p.520

          .         .         .         .         .         .       g.24464
 CAACATAAATCCAAGAAGAAACCTTCTGTAGTGATAACTTGGATGTCATTGGATTTTTAC       c.1620
 Q  H  K  S  K  K  K  P  S  V  V  I  T  W  M  S  L  D  F  Y         p.540

          .         .         .         .         .         .       g.24524
 ACAAAAGTGCTTAAGAGCTGTAGAAGTTTGTTAGAATCTGTTCAGAAACTGGACCTGGAG       c.1680
 T  K  V  L  K  S  C  R  S  L  L  E  S  V  Q  K  L  D  L  E         p.560

          .         .         .         .         .   | 08     .    g.25058
 GCAACCATTGATAAGGTGGTGAAAATTTATGATGCTTTGATTTATATGCAAG | TAAACAGT    c.1740
 A  T  I  D  K  V  V  K  I  Y  D  A  L  I  Y  M  Q  V |   N  S      p.580

          .         .         .         .         .         .       g.25118
 TCATTTGAAGATCATATCCTGGAAGATTTATGTGGTATGCTCTCACTTCCATGGATTTAT       c.1800
 S  F  E  D  H  I  L  E  D  L  C  G  M  L  S  L  P  W  I  Y         p.600

          .         .         .         .         .         .       g.25178
 TCCCATTCTGATGATGGCTGTTTAAAGTTGACCACATTTGCCGCTAATCTTCTAACATTA       c.1860
 S  H  S  D  D  G  C  L  K  L  T  T  F  A  A  N  L  L  T  L         p.620

          .         .      | 09  .         .         .         .    g.27286
 AGCTGTAGGATTTCAGATAGCTATT | CACCACAGGCACAATCACGATGTGTGTTTCTTCTG    c.1920
 S  C  R  I  S  D  S  Y  S |   P  Q  A  Q  S  R  C  V  F  L  L      p.640

          .         .         .         .         .         .       g.27346
 ACTCTGTTTCCAAGAAGAATATTCCTTGAGTGGAGAACAGCAGTTTACAACTGGGCCCTG       c.1980
 T  L  F  P  R  R  I  F  L  E  W  R  T  A  V  Y  N  W  A  L         p.660

          .         .         .         .         .         .       g.27406
 CAGAGCTCCCATGAAGTAATCCGGGCTAGTTGTGTTAGTGGATTTTTTATCTTATTGCAG       c.2040
 Q  S  S  H  E  V  I  R  A  S  C  V  S  G  F  F  I  L  L  Q         p.680

          .         .         .         | 10         .         .    g.27709
 CAGCAGAATTCTTGTAACAGAGTTCCCAAGATTCTTAT | AGATAAAGTCAAAGATGATTCT    c.2100
 Q  Q  N  S  C  N  R  V  P  K  I  L  I  |  D  K  V  K  D  D  S      p.700

          .         .         .         .         .         .       g.27769
 GACATTGTCAAGAAAGAATTTGCTTCTATACTTGGTCAACTTGTCTGTACTCTTCACGGC       c.2160
 D  I  V  K  K  E  F  A  S  I  L  G  Q  L  V  C  T  L  H  G         p.720

          .         .         .         .         .         .       g.27829
 ATGTTTTATCTGACAAGTTCTTTAACAGAACCTTTCTCTGAACACGGACATGTGGACCTC       c.2220
 M  F  Y  L  T  S  S  L  T  E  P  F  S  E  H  G  H  V  D  L         p.740

          .         .         .         .         .         .       g.27889
 TTCTGTAGGAACTTGAAAGCCACTTCTCAACATGAATGTTCATCTTCTCAACTAAAAGCT       c.2280
 F  C  R  N  L  K  A  T  S  Q  H  E  C  S  S  S  Q  L  K  A         p.760

          .         .         .         .         .         .       g.27949
 TCTGTCTGCAAGCCATTCCTTTTCCTACTGAAAAAAAAAATACCTAGTCCAGTAAAACTT       c.2340
 S  V  C  K  P  F  L  F  L  L  K  K  K  I  P  S  P  V  K  L         p.780

   | 11      .         .         .         .         .         .    g.29870
 G | CTTTCATAGATAATCTACATCATCTTTGTAAGCATCTTGATTTTAGAGAAGATGAAACA    c.2400
 A |   F  I  D  N  L  H  H  L  C  K  H  L  D  F  R  E  D  E  T      p.800

          .         .         .         .         .         .       g.29930
 GATGTAAAAGCAGTTCTTGGAACTTTATTAAATTTAATGGAAGATCCAGACAAAGATGTT       c.2460
 D  V  K  A  V  L  G  T  L  L  N  L  M  E  D  P  D  K  D  V         p.820

          .         .         .         .         .         .       g.29990
 AGAGTGGCTTTTAGTGGAAATATCAAGCACATATTGGAATCCTTGGACTCTGAAGATGGA       c.2520
 R  V  A  F  S  G  N  I  K  H  I  L  E  S  L  D  S  E  D  G         p.840

          .   | 12     .         .         .         .         .    g.30134
 TTTATAAAGGAG | CTTTTTGTCTTAAGAATGAAGGAAGCATATACACATGCCCAAATATCA    c.2580
 F  I  K  E   | L  F  V  L  R  M  K  E  A  Y  T  H  A  Q  I  S      p.860

          .         .         .         .         .    | 13    .    g.30435
 AGAAATAATGAGCTGAAGGATACCTTGATTCTTACAACAGGGGATATTGGAAG | GGCCGCA    c.2640
 R  N  N  E  L  K  D  T  L  I  L  T  T  G  D  I  G  R  |  A  A      p.880

          .         .         .         .         .         .       g.30495
 AAAGGAGATTTGGTACCATTTGCACTCTTACACTTATTGCATTGTTTGTTATCCAAGTCA       c.2700
 K  G  D  L  V  P  F  A  L  L  H  L  L  H  C  L  L  S  K  S         p.900

          .         .         .         .         .         .       g.30555
 GCATCTGTCTCTGGAGCAGCATACACAGAAATTAGAGCTCTGGTTGCAGCTAAAAGTGTT       c.2760
 A  S  V  S  G  A  A  Y  T  E  I  R  A  L  V  A  A  K  S  V         p.920

          .         .         .         .      | 14  .         .    g.33539
 AAACTGCAAAGTTTTTTCAGCCAGTATAAGAAACCCATCTGTCAG | TTTTTGGTAGAATCC    c.2820
 K  L  Q  S  F  F  S  Q  Y  K  K  P  I  C  Q   | F  L  V  E  S      p.940

          .         .         .         .         .         .       g.33599
 CTTCACTCTAGTCAGATGACAGCACTTCCGAATACTCCATGCCAGAATGCTGACGTGCGA       c.2880
 L  H  S  S  Q  M  T  A  L  P  N  T  P  C  Q  N  A  D  V  R         p.960

          .         .         .         .         .         .       g.33659
 AAACAAGATGTGGCTCACCAGAGAGAAATGGCTTTAAATACGTTGTCTGAAATTGCCAAC       c.2940
 K  Q  D  V  A  H  Q  R  E  M  A  L  N  T  L  S  E  I  A  N         p.980

          .         .         .       | 15 .         .         .    g.34177
 GTTTTCGACTTTCCTGATCTTAATCGTTTTCTTACT | AGGACATTACAAGTTCTACTACCT    c.3000
 V  F  D  F  P  D  L  N  R  F  L  T   | R  T  L  Q  V  L  L  P      p.1000

          .         .         .         .         .         .       g.34237
 GATCTTGCTGCCAAAGCAAGCCCTGCAGCTTCTGCTCTCATTCGAACTTTAGGAAAACAA       c.3060
 D  L  A  A  K  A  S  P  A  A  S  A  L  I  R  T  L  G  K  Q         p.1020

          .         .         .         .         .         .       g.34297
 TTAAATGTCAATCGTAGAGAGATTTTAATAAACAACTTCAAATATATTTTTTCTCATTTG       c.3120
 L  N  V  N  R  R  E  I  L  I  N  N  F  K  Y  I  F  S  H  L         p.1040

          .         .         .         .         .  | 16      .    g.35925
 GTCTGTTCTTGTTCCAAAGATGAATTAGAACGTGCCCTTCATTATCTGAAG | AATGAAACA    c.3180
 V  C  S  C  S  K  D  E  L  E  R  A  L  H  Y  L  K   | N  E  T      p.1060

          .         .         .         .         .         .       g.35985
 GAAATTGAACTGGGGAGCCTGTTGAGACAAGATTTCCAAGGATTGCATAATGAATTATTG       c.3240
 E  I  E  L  G  S  L  L  R  Q  D  F  Q  G  L  H  N  E  L  L         p.1080

          .         .         .         .         .         .       g.36045
 CTGCGTATTGGAGAACACTATCAACAGGTTTTTAATGGTTTGTCAATACTTGCCTCATTT       c.3300
 L  R  I  G  E  H  Y  Q  Q  V  F  N  G  L  S  I  L  A  S  F         p.1100

          .         .         .         .         .        | 17.    g.41072
 GCATCCAGTGATGATCCATATCAGGGCCCGAGAGATATCATATCACCTGAACTGATG | GCT    c.3360
 A  S  S  D  D  P  Y  Q  G  P  R  D  I  I  S  P  E  L  M   | A      p.1120

          .         .         .         .         .         .       g.41132
 GATTATTTACAACCCAAATTGTTGGGCATTTTGGCTTTTTTTAACATGCAGTTACTGAGC       c.3420
 D  Y  L  Q  P  K  L  L  G  I  L  A  F  F  N  M  Q  L  L  S         p.1140

          .         .         . | 18       .         .         .    g.42822
 TCTAGTGTTGGCATTGAAGATAAGAAAATG | GCCTTGAACAGTTTGATGTCTTTGATGAAG    c.3480
 S  S  V  G  I  E  D  K  K  M   | A  L  N  S  L  M  S  L  M  K      p.1160

          .         .         .         .         .         .       g.42882
 TTAATGGGACCCAAACATGTCAGTTCTGTGAGGGTGAAGATGATGACCACACTGAGAACT       c.3540
 L  M  G  P  K  H  V  S  S  V  R  V  K  M  M  T  T  L  R  T         p.1180

          .         .         .         .  | 19      .         .    g.45220
 GGCCTTCGATTCAAGGATGATTTTCCTGAATTGTGTTGCAG | AGCTTGGGACTGCTTTGTT    c.3600
 G  L  R  F  K  D  D  F  P  E  L  C  C  R  |  A  W  D  C  F  V      p.1200

          .         .         .         .         .         .       g.45280
 CGCTGCCTGGATCATGCTTGTCTGGGCTCCCTTCTCAGTCATGTAATAGTAGCTTTGTTA       c.3660
 R  C  L  D  H  A  C  L  G  S  L  L  S  H  V  I  V  A  L  L         p.1220

          .         .         .         .         .         .       g.45340
 CCTCTTATACACATCCAGCCTAAAGAAACTGCAGCTATCTTCCACTACCTCATAATTGAA       c.3720
 P  L  I  H  I  Q  P  K  E  T  A  A  I  F  H  Y  L  I  I  E         p.1240

       | 20  .         .         .         .         .         .    g.47680
 AACAG | GGATGCTGTGCAAGATTTTCTTCATGAAATATATTTTTTACCTGATCATCCAGAA    c.3780
 N  R  |  D  A  V  Q  D  F  L  H  E  I  Y  F  L  P  D  H  P  E      p.1260

          .         .         .          | 21        .         .    g.48642
 TTAAAAAAGATAAAAGCCGTTCTCCAGGAATACAGAAAG | GAGACCTCTGAGAGCACTGAT    c.3840
 L  K  K  I  K  A  V  L  Q  E  Y  R  K   | E  T  S  E  S  T  D      p.1280

          .         .         .         .         .         .       g.48702
 CTTCAGACAACTCTTCAGCTCTCTATGAAGGCCATTCAACATGAAAATGTCGATGTTCGT       c.3900
 L  Q  T  T  L  Q  L  S  M  K  A  I  Q  H  E  N  V  D  V  R         p.1300

          .         .         .         .      | 22  .         .    g.59642
 ATTCATGCTCTTACAAGCTTGAAGGAAACCTTGTATAAAAATCAG | GAAAAACTGATAAAG    c.3960
 I  H  A  L  T  S  L  K  E  T  L  Y  K  N  Q   | E  K  L  I  K      p.1320

          .         .         .         .         .         .       g.59702
 TATGCAACAGACAGTGAAACAGTAGAACCTATTATCTCACAGTTGGTGACAGTGCTTTTG       c.4020
 Y  A  T  D  S  E  T  V  E  P  I  I  S  Q  L  V  T  V  L  L         p.1340

          .         .         .         .         .         .       g.59762
 AAAGGTTGCCAAGATGCAAACTCTCAAGCTCGGTTGCTCTGTGGGGAATGTTTAGGGGAA       c.4080
 K  G  C  Q  D  A  N  S  Q  A  R  L  L  C  G  E  C  L  G  E         p.1360

          .         .         .         .         .         .       g.59822
 TTGGGGGCGATAGATCCAGGTCGATTAGATTTCTCAACAACTGAAACTCAAGGAAAAGAT       c.4140
 L  G  A  I  D  P  G  R  L  D  F  S  T  T  E  T  Q  G  K  D         p.1380

          .   | 23     .         .         .         .         .    g.61033
 TTTACATTTGTG | ACTGGAGTAGAAGATTCAAGCTTTGCCTATGGATTATTGATGGAGCTA    c.4200
 F  T  F  V   | T  G  V  E  D  S  S  F  A  Y  G  L  L  M  E  L      p.1400

          .         .         .         .         .         .       g.61093
 ACAAGAGCTTACCTTGCGTATGCTGATAATAGCCGAGCTCAAGATTCAGCTGCCTATGCC       c.4260
 T  R  A  Y  L  A  Y  A  D  N  S  R  A  Q  D  S  A  A  Y  A         p.1420

        | 24 .         .         .         .         .         .    g.64096
 ATTCAG | GAGTTGCTTTCTATTTATGACTGTAGAGAGATGGAGACCAACGGCCCAGGTCAC    c.4320
 I  Q   | E  L  L  S  I  Y  D  C  R  E  M  E  T  N  G  P  G  H      p.1440

          .         .         .         .         .         .       g.64156
 CAATTGTGGAGGAGATTTCCTGAGCATGTTCGGGAAATACTAGAACCTCATCTAAATACC       c.4380
 Q  L  W  R  R  F  P  E  H  V  R  E  I  L  E  P  H  L  N  T         p.1460

    | 25     .         .         .         .         .         .    g.68369
 AG | ATACAAGAGTTCTCAGAAGTCAACCGATTGGTCTGGAGTAAAGAAGCCAATTTACTTA    c.4440
 R  |  Y  K  S  S  Q  K  S  T  D  W  S  G  V  K  K  P  I  Y  L      p.1480

          .         .         .         .         .         .       g.68429
 AGTAAATTGGGTAGTAACTTTGCAGAATGGTCAGCATCTTGGGCAGGTTATCTTATTACA       c.4500
 S  K  L  G  S  N  F  A  E  W  S  A  S  W  A  G  Y  L  I  T         p.1500

     | 26    .         .         .         .         .         .    g.70245
 AAG | GTTCGACATGATCTTGCCAGTAAAATTTTCACCTGCTGTAGCATTATGATGAAGCAT    c.4560
 K   | V  R  H  D  L  A  S  K  I  F  T  C  C  S  I  M  M  K  H      p.1520

          .         .         .         .         .         .       g.70305
 GATTTCAAAGTGACCATCTATCTTCTTCCACATATTCTGGTGTATGTCTTACTGGGTTGT       c.4620
 D  F  K  V  T  I  Y  L  L  P  H  I  L  V  Y  V  L  L  G  C         p.1540

          .         .  | 27      .         .         .         .    g.71395
 AATCAAGAAGATCAGCAGGAG | GTTTATGCAGAAATTATGGCAGTTCTAAAGCATGACGAT    c.4680
 N  Q  E  D  Q  Q  E   | V  Y  A  E  I  M  A  V  L  K  H  D  D      p.1560

          .         .         .         .         .         .       g.71455
 CAGCATACCATAAATACCCAAGACATTGCATCTGATCTGTGTCAACTCAGTACACAGACT       c.4740
 Q  H  T  I  N  T  Q  D  I  A  S  D  L  C  Q  L  S  T  Q  T         p.1580

          .         .         .         .         .         .       g.71515
 GTGTTCTCCATGCTTGACCATCTCACACAGTGGGCAAGGCACAAATTTCAGGCACTGAAA       c.4800
 V  F  S  M  L  D  H  L  T  Q  W  A  R  H  K  F  Q  A  L  K         p.1600

          .         .         .         .         .   | 28     .    g.75725
 GCTGAGAAATGTCCACACAGCAAATCAAACAGAAATAAGGTAGACTCAATGG | TATCTACT    c.4860
 A  E  K  C  P  H  S  K  S  N  R  N  K  V  D  S  M  V |   S  T      p.1620

          .         .         .         .         .         .       g.75785
 GTGGATTATGAAGACTATCAGAGTGTAACCCGTTTTCTAGACCTCATACCCCAGGATACT       c.4920
 V  D  Y  E  D  Y  Q  S  V  T  R  F  L  D  L  I  P  Q  D  T         p.1640

          .         .         .         .         .         .       g.75845
 CTGGCAGTAGCTTCCTTTCGCTCCAAAGCATACACACGAGCTGTAATGCACTTTGAATCA       c.4980
 L  A  V  A  S  F  R  S  K  A  Y  T  R  A  V  M  H  F  E  S         p.1660

          .         .         .         .         .  | 29      .    g.78532
 TTTATTACAGAAAAGAAGCAAAATATTCAGGAACATCTTGGATTTTTACAG | AAATTGTAT    c.5040
 F  I  T  E  K  K  Q  N  I  Q  E  H  L  G  F  L  Q   | K  L  Y      p.1680

          .         .         .         .         .         .       g.78592
 GCTGCTATGCATGAACCTGATGGAGTGGCCGGAGTCAGTGCAATTAGAAAGGCAGAACCA       c.5100
 A  A  M  H  E  P  D  G  V  A  G  V  S  A  I  R  K  A  E  P         p.1700

          .         .         .         .         .         .       g.78652
 TCTCTAAAAGAACAGATCCTTGAACATGAAAGCCTTGGCTTGCTGAGGGATGCCACTGCT       c.5160
 S  L  K  E  Q  I  L  E  H  E  S  L  G  L  L  R  D  A  T  A         p.1720

          .         .         .       | 30 .         .         .    g.80397
 TGTTATGACAGGGCTATTCAGCTAGAACCAGACCAG | ATCATTCATTATCATGGTGTAGTA    c.5220
 C  Y  D  R  A  I  Q  L  E  P  D  Q   | I  I  H  Y  H  G  V  V      p.1740

          .         .         .         .         .         .       g.80457
 AAGTCCATGTTAGGTCTTGGTCAGCTGTCTACTGTTATCACTCAGGTGAATGGAGTGCAT       c.5280
 K  S  M  L  G  L  G  Q  L  S  T  V  I  T  Q  V  N  G  V  H         p.1760

          | 31         .         .         .         .         .    g.84160
 GCTAACAG | GTCCGAGTGGACAGATGAATTAAACACGTACAGAGTGGAAGCAGCTTGGAAA    c.5340
 A  N  R  |  S  E  W  T  D  E  L  N  T  Y  R  V  E  A  A  W  K      p.1780

          .         .         .         . | 32       .         .    g.85072
 TTGTCACAGTGGGATTTGGTGGAAAACTATTTGGCAGCAG | ATGGAAAATCTACAACATGG    c.5400
 L  S  Q  W  D  L  V  E  N  Y  L  A  A  D |   G  K  S  T  T  W      p.1800

          .         .         .         .         .         .       g.85132
 AGTGTCAGACTGGGACAGCTATTATTATCAGCCAAAAAAAGAGATATCACAGCTTTTTAT       c.5460
 S  V  R  L  G  Q  L  L  L  S  A  K  K  R  D  I  T  A  F  Y         p.1820

          .         .         .         .         .         .       g.85192
 GACTCACTGAAACTAGTGAGAGCAGAACAAATTGTACCTCTTTCAGCTGCAAGCTTTGAA       c.5520
 D  S  L  K  L  V  R  A  E  Q  I  V  P  L  S  A  A  S  F  E         p.1840

          .         .         .         | 33         .         .    g.86656
 AGAGGCTCCTACCAACGAGGATATGAATATATTGTGAG | ATTGCACATGTTATGTGAGTTG    c.5580
 R  G  S  Y  Q  R  G  Y  E  Y  I  V  R  |  L  H  M  L  C  E  L      p.1860

          .         .         .         .         .         .       g.86716
 GAGCATAGCATCAAACCACTTTTCCAGCATTCTCCAGGTGACAGTTCTCAAGAAGATTCT       c.5640
 E  H  S  I  K  P  L  F  Q  H  S  P  G  D  S  S  Q  E  D  S         p.1880

          .         .         .         .         .         .       g.86776
 CTAAACTGGGTAGCTCGACTAGAAATGACCCAGAATTCCTACAGAGCCAAGGAGCCTATC       c.5700
 L  N  W  V  A  R  L  E  M  T  Q  N  S  Y  R  A  K  E  P  I         p.1900

          .         .         .         | 34         .         .    g.87328
 CTGGCTCTCCGGAGGGCTTTACTAAGCCTCAACAAAAG | ACCAGATTACAATGAAATGGTT    c.5760
 L  A  L  R  R  A  L  L  S  L  N  K  R  |  P  D  Y  N  E  M  V      p.1920

          .         .         .         .         .         .       g.87388
 GGAGAATGCTGGCTGCAGAGTGCCAGGGTAGCTAGAAAGGCTGGTCACCACCAGACAGCC       c.5820
 G  E  C  W  L  Q  S  A  R  V  A  R  K  A  G  H  H  Q  T  A         p.1940

          .         .         .         .         .         .       g.87448
 TACAATGCTCTCCTTAATGCAGGGGAATCACGACTCGCTGAACTGTACGTGGAAAGGGCA       c.5880
 Y  N  A  L  L  N  A  G  E  S  R  L  A  E  L  Y  V  E  R  A         p.1960

          .         | 35         .         .         .         .    g.90557
 AAGTGGCTCTGGTCCAAG | GGTGATGTTCACCAGGCACTAATTGTTCTTCAAAAAGGTGTT    c.5940
 K  W  L  W  S  K   | G  D  V  H  Q  A  L  I  V  L  Q  K  G  V      p.1980

          .         .         .         .         .         .       g.90617
 GAATTATGTTTTCCTGAAAATGAAACCCCACCTGAGGGTAAGAACATGTTAATCCATGGT       c.6000
 E  L  C  F  P  E  N  E  T  P  P  E  G  K  N  M  L  I  H  G         p.2000

          .         .         .         .         .         .       g.90677
 CGAGCTATGCTACTAGTGGGCCGATTTATGGAAGAAACAGCTAACTTTGAAAGCAATGCA       c.6060
 R  A  M  L  L  V  G  R  F  M  E  E  T  A  N  F  E  S  N  A         p.2020

          .         | 36         .         .         .         .    g.98586
 ATTATGAAAAAATATAAG | GATGTGACCGCGTGCCTGCCAGAATGGGAGGATGGGCATTTT    c.6120
 I  M  K  K  Y  K   | D  V  T  A  C  L  P  E  W  E  D  G  H  F      p.2040

          .         .         .         .         .         .       g.98646
 TACCTTGCCAAGTACTATGACAAATTGATGCCCATGGTCACAGACAACAAAATGGAAAAG       c.6180
 Y  L  A  K  Y  Y  D  K  L  M  P  M  V  T  D  N  K  M  E  K         p.2060

          .         .         .         .  | 37      .         .    g.113662
 CAAGGTGATCTCATCCGGTATATAGTTCTTCATTTTGGCAG | ATCTCTACAATATGGAAAT    c.6240
 Q  G  D  L  I  R  Y  I  V  L  H  F  G  R  |  S  L  Q  Y  G  N      p.2080

          .         .         .         .         .         .       g.113722
 CAGTTCATATATCAGTCAATGCCACGAATGTTAACTCTATGGCTTGATTATGGTACAAAG       c.6300
 Q  F  I  Y  Q  S  M  P  R  M  L  T  L  W  L  D  Y  G  T  K         p.2100

          .          | 38        .         .         .         .    g.114298
 GCATATGAATGGGAAAAAG | CTGGCCGCTCCGATCGTGTACAAATGAGGAATGATTTGGGT    c.6360
 A  Y  E  W  E  K  A |   G  R  S  D  R  V  Q  M  R  N  D  L  G      p.2120

          .         .         .         .         .         .       g.114358
 AAAATAAACAAGGTTATCACAGAGCATACAAACTATTTAGCTCCATATCAATTTTTGACT       c.6420
 K  I  N  K  V  I  T  E  H  T  N  Y  L  A  P  Y  Q  F  L  T         p.2140

          .         .         .         .         .         .       g.114418
 GCTTTTTCACAATTGATCTCTCGAATTTGTCATTCTCACGATGAAGTTTTTGTTGTCTTG       c.6480
 A  F  S  Q  L  I  S  R  I  C  H  S  H  D  E  V  F  V  V  L         p.2160

          .         .         .         .         .         .       g.114478
 ATGGAAATAATAGCCAAAGTATTTCTAGCCTATCCTCAACAAGCAATGTGGATGATGACA       c.6540
 M  E  I  I  A  K  V  F  L  A  Y  P  Q  Q  A  M  W  M  M  T         p.2180

          .   | 39     .         .         .         .         .    g.115806
 GCTGTGTCAAAG | TCATCTTATCCCATGCGTGTGAACAGATGCAAGGAAATCCTCAATAAA    c.6600
 A  V  S  K   | S  S  Y  P  M  R  V  N  R  C  K  E  I  L  N  K      p.2200

          .         .         .         .         .         .       g.115866
 GCTATTCATATGAAAAAATCCTTAGAGAAGTTTGTTGGAGATGCAACTCGCCTAACAGAT       c.6660
 A  I  H  M  K  K  S  L  E  K  F  V  G  D  A  T  R  L  T  D         p.2220

          .         .        | 40.         .         .         .    g.117326
 AAGCTTCTAGAATTGTGCAATAAACCG | GTTGATGGAAGTAGTTCCACATTAAGCATGAGC    c.6720
 K  L  L  E  L  C  N  K  P   | V  D  G  S  S  S  T  L  S  M  S      p.2240

          .         .         .         .         .         .       g.117386
 ACTCATTTTAAAATGCTTAAAAAGCTGGTAGAAGAAGCAACATTTAGTGAAATCCTCATT       c.6780
 T  H  F  K  M  L  K  K  L  V  E  E  A  T  F  S  E  I  L  I         p.2260

          .         .         .         .         .         .       g.117446
 CCTCTACAATCAGTCATGATACCTACACTTCCATCAATTCTGGGTACCCATGCTAACCAT       c.6840
 P  L  Q  S  V  M  I  P  T  L  P  S  I  L  G  T  H  A  N  H         p.2280

          .         .         .         .         .        | 41.    g.118589
 GCTAGCCATGAACCATTTCCTGGACATTGGGCCTATATTGCAGGGTTTGATGATATG | GTG    c.6900
 A  S  H  E  P  F  P  G  H  W  A  Y  I  A  G  F  D  D  M   | V      p.2300

          .         .         .         .         .         .       g.118649
 GAAATTCTTGCTTCTCTTCAGAAACCAAAGAAGATTTCTTTAAAAGGCTCAGATGGAAAG       c.6960
 E  I  L  A  S  L  Q  K  P  K  K  I  S  L  K  G  S  D  G  K         p.2320

          .         .         .         .         .         .       g.118709
 TTCTACATCATGATGTGTAAGCCAAAAGATGACCTGAGAAAGGATTGTAGACTAATGGAA       c.7020
 F  Y  I  M  M  C  K  P  K  D  D  L  R  K  D  C  R  L  M  E         p.2340

          .         .  | 42      .         .         .         .    g.121775
 TTCAATTCCTTGATTAATAAG | TGCTTAAGAAAAGATGCAGAGTCTCGTAGAAGAGAACTT    c.7080
 F  N  S  L  I  N  K   | C  L  R  K  D  A  E  S  R  R  R  E  L      p.2360

          .         .         .         .         .         .       g.121835
 CATATTCGAACATATGCAGTTATTCCACTAAATGATGAATGTGGGATTATTGAATGGGTG       c.7140
 H  I  R  T  Y  A  V  I  P  L  N  D  E  C  G  I  I  E  W  V         p.2380

          .         .         .         .         .   | 43     .    g.124451
 AACAACACTGCTGGTTTGAGACCTATTCTGACCAAACTATATAAAGAAAAGG | GAGTGTAT    c.7200
 N  N  T  A  G  L  R  P  I  L  T  K  L  Y  K  E  K  G |   V  Y      p.2400

          .         .         .         .         .         .       g.124511
 ATGACAGGAAAAGAACTTCGCCAGTGTATGCTACCAAAGTCAGCAGCTTTATCTGAAAAA       c.7260
 M  T  G  K  E  L  R  Q  C  M  L  P  K  S  A  A  L  S  E  K         p.2420

          .         .         .         .         .         .       g.124571
 CTCAAAGTATTCCGAGAATTTCTCCTGCCCAGGCATCCTCCTATTTTTCATGAGTGGTTT       c.7320
 L  K  V  F  R  E  F  L  L  P  R  H  P  P  I  F  H  E  W  F         p.2440

          .         .          | 44        .         .         .    g.124746
 CTGAGAACATTCCCTGATCCTACATCATG | GTACAGTAGTAGATCAGCTTACTGCCGTTCC    c.7380
 L  R  T  F  P  D  P  T  S  W  |  Y  S  S  R  S  A  Y  C  R  S      p.2460

          .         .         .         .         .         .       g.124806
 ACTGCAGTAATGTCAATGGTTGGTTATATTCTGGGGCTTGGAGACCGTCATGGTGAAAAT       c.7440
 T  A  V  M  S  M  V  G  Y  I  L  G  L  G  D  R  H  G  E  N         p.2480

          .         .         .         .         .         .       g.124866
 ATTCTCTTTGATTCTTTGACTGGTGAATGCGTACATGTAGATTTCAATTGTCTTTTCAAT       c.7500
 I  L  F  D  S  L  T  G  E  C  V  H  V  D  F  N  C  L  F  N         p.2500

     | 45    .         .         .         .         .         .    g.126128
 AAG | GGAGAAACCTTTGAAGTTCCAGAAATTGTGCCATTTCGCCTGACTCATAATATGGTT    c.7560
 K   | G  E  T  F  E  V  P  E  I  V  P  F  R  L  T  H  N  M  V      p.2520

          .         .         .         .         .         .       g.126188
 AATGGAATGGGTCCTATGGGAACAGAGGGTCTTTTTCGAAGAGCATGTGAAGTTACAATG       c.7620
 N  G  M  G  P  M  G  T  E  G  L  F  R  R  A  C  E  V  T  M         p.2540

          .         .         .      | 46  .         .         .    g.130618
 AGGCTGATGCGTGATCAGCGAGAGCCTTTAATGAG | TGTCTTAAAGACTTTTCTACATGAT    c.7680
 R  L  M  R  D  Q  R  E  P  L  M  S  |  V  L  K  T  F  L  H  D      p.2560

          .         .         .         .         .         .       g.130678
 CCTCTTGTGGAATGGAGTAAACCAGTGAAAGGGCATTCCAAAGCGCCACTGAATGAAACT       c.7740
 P  L  V  E  W  S  K  P  V  K  G  H  S  K  A  P  L  N  E  T         p.2580

          .         .  | 47      .         .         .         .    g.134263
 GGAGAAGTTGTCAATGAAAAG | GCCAAGACCCATGTTCTTGACATTGAGCAGCGACTACAA    c.7800
 G  E  V  V  N  E  K   | A  K  T  H  V  L  D  I  E  Q  R  L  Q      p.2600

          .         .         .         .         .         .       g.134323
 GGTGTAATCAAGACTCGAAATAGAGTGACAGGACTGCCGTTATCTATTGAAGGACATGTG       c.7860
 G  V  I  K  T  R  N  R  V  T  G  L  P  L  S  I  E  G  H  V         p.2620

          .         .         .         .         .         .       g.134383
 CATTACCTTATACAGGAAGCTACTGATGAAAACTTACTATGCCAGATGTATCTTGGTTGG       c.7920
 H  Y  L  I  Q  E  A  T  D  E  N  L  L  C  Q  M  Y  L  G  W         p.2640

          .                                                         g.134398
 ACTCCATATATGTGA                                                    c.7935
 T  P  Y  M  X                                                      p.2644

          .         .         .         .         .         .       g.134458
 aatgaaattatgtaaaagaatatgttaataatctaaaagtaatgcatttggtatgaatct       c.*60

          .         .         .         .         .         .       g.134518
 gtggttgtatctgttcaattctaaagtacaacataaatttacgttctcagcaactgttat       c.*120

          .         .         .         .         .         .       g.134578
 ttctctctgatcattaattatatgtaaaataatatacattcagttattaagaaataaact       c.*180

          .                                                         g.134592
 gctttcttaataca                                                     c.*194

 (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 Ataxia telangiectasia and Rad3 related 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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