paternally expressed 3 (PEG3) - coding DNA reference sequence

(used for variant description)

(last modified November 21, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_006210.2 in the PEG3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012989.1, covering PEG3 transcript NM_006210.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5037
                           gcagaagtctgggcagctgcgggaggagaggttt       c.-361

 .         .         .         .         .         .                g.5097
 gggaggcgcgggagatgtccaccctgggctggtggcgccgccgggcgccgggcgccatga       c.-301

 .         .         .         .         .         . | 02           g.9634
 gggtgcgctaggcggctgttcgtgcccgaggctgcgcagcactgaggtgag | ctttgcctt    c.-241

 .         .         .         .         .         .                g.9694
 cttgatcttccgtccttcttggagacgactggcgagaggaagagggactaggtccaaacg       c.-181

 .         .        | 03.         .         .         .             g.19308
 ctaggtggctgggtccag | atacctgtgttttgactctgttcctgtggatagctgcttggt    c.-121

 .         .         .         .    | 04    .         .             g.21014
 ctgaagttccagaaaggatcctgttcccagacag | gtccctgagtactgacggtcacaggc    c.-61

 .         .         .         .         .         .                g.21074
 tgccgcgtctttcctgttgactcatgtttggttcctccagtgaaaattttacttagagaa       c.-1

          .         .         .         .         .         .       g.21134
 ATGCTGCCTCCAAAGCACTTGTCTGCCACCAAACCTAAGAAGTCCTGGGCCCCAAATCTG       c.60
 M  L  P  P  K  H  L  S  A  T  K  P  K  K  S  W  A  P  N  L         p.20

          .         .         .         .         .         .       g.21194
 TATGAGCTAGACAGTGACTTGACTAAGGAGCCGGATGTCATCATAGGAGAAGGTCCAACT       c.120
 Y  E  L  D  S  D  L  T  K  E  P  D  V  I  I  G  E  G  P  T         p.40

          .         .         .         .         .         .       g.21254
 GACTCTGAGTTTTTTCATCAGAGGTTTCGGAACCTAATCTATGTGGAATTTGTTGGGCCT       c.180
 D  S  E  F  F  H  Q  R  F  R  N  L  I  Y  V  E  F  V  G  P         p.60

          .         .         .         .         .         .       g.21314
 CGGAAGACCCTGATCAAACTCCGAAACCTCTGCCTCGATTGGTTGCAGCCGGAGACCCGC       c.240
 R  K  T  L  I  K  L  R  N  L  C  L  D  W  L  Q  P  E  T  R         p.80

          .         .         .         .         .         .       g.21374
 ACCAAGGAGGAGATCATCGAGCTCTTGGTCCTTGAGCAGTACCTGACCATCATCCCTGAA       c.300
 T  K  E  E  I  I  E  L  L  V  L  E  Q  Y  L  T  I  I  P  E         p.100

          .         .         .         .         .         .       g.21434
 AAGCTCAAGCCTTGGGTGCGAGCAAAAAAGCCGGAGAACTGTGAGAAGCTCGTCACTCTG       c.360
 K  L  K  P  W  V  R  A  K  K  P  E  N  C  E  K  L  V  T  L         p.120

          .         .         .     | 05   .         .         .    g.22076
 CTGGAGAATTACAAGGAGATGTACCAACCAGAAG | ACGACAACAACAGTGACGTGACCAGC    c.420
 L  E  N  Y  K  E  M  Y  Q  P  E  D |   D  N  N  S  D  V  T  S      p.140

          .         .         .         .         .         .       g.22136
 GACGACGACATGACCCGGAACAGAAGAGAGTCCTCACCACCTCACTCAGTCCATTCTTTC       c.480
 D  D  D  M  T  R  N  R  R  E  S  S  P  P  H  S  V  H  S  F         p.160

   | 06      .         .         .         .         .         .    g.22952
 A | GTGACCGGGACTGGGACCGGAGGGGCAGAAGCAGAGACATGGAGCCACGAGACCGCTGG    c.540
 S |   D  R  D  W  D  R  R  G  R  S  R  D  M  E  P  R  D  R  W      p.180

          .         .      | 07  .         .         .         .    g.24010
 TCCCACACCAGGAACCCAAGAAGCA | GGATGCCTCCGCGGGATCTTTCCCTTCCTGTGGTG    c.600
 S  H  T  R  N  P  R  S  R |   M  P  P  R  D  L  S  L  P  V  V      p.200

          .         .         .         .         .         .       g.24070
 GCGAAAACAAGCTTTGAAATGGACAGAGAGGACGACAGGGACTCCAGGGCTTATGAGTCC       c.660
 A  K  T  S  F  E  M  D  R  E  D  D  R  D  S  R  A  Y  E  S         p.220

           | 08        .         .         .         .         .    g.27078
 CGATCTCAG | GATGCTGAATCATACCAAAATGTGGTGGACCTCGCTGAGGACAGGAAACCT    c.720
 R  S  Q   | D  A  E  S  Y  Q  N  V  V  D  L  A  E  D  R  K  P      p.240

          .         .         .         .         .   | 09     .    g.27902
 CACAACACAATCCAGGACAACATGGAAAACTACAGGAAGCTGCTCTCCCTCG | TGCAGCTT    c.780
 H  N  T  I  Q  D  N  M  E  N  Y  R  K  L  L  S  L  V |   Q  L      p.260

          .         .         .         .         .         .       g.27962
 GCTGAAGACGATGGCCACTCCCACATGACGCAGGGCCACTCATCAAGATCCAAGAGAAGT       c.840
 A  E  D  D  G  H  S  H  M  T  Q  G  H  S  S  R  S  K  R  S         p.280

          .         .   | 10     .         .         .         .    g.28188
 GCCTACCCAAGCACCAGTCGAG | GTCTAAAAACTATGCCTGAAGCCAAAAAATCAACCCAC    c.900
 A  Y  P  S  T  S  R  G |   L  K  T  M  P  E  A  K  K  S  T  H      p.300

          .         .         .         .         .         .       g.28248
 CGGCGGGGGATTTGTGAAGATGAATCTTCCCACGGAGTGATAATGGAAAAATTCATCAAG       c.960
 R  R  G  I  C  E  D  E  S  S  H  G  V  I  M  E  K  F  I  K         p.320

          .         .         .         .         .         .       g.28308
 GATGTGTCACGCAGTTCCAAATCGGGAAGAGCAAGGGAGTCAAGCGACCGGTCACAGAGA       c.1020
 D  V  S  R  S  S  K  S  G  R  A  R  E  S  S  D  R  S  Q  R         p.340

          .         .         .         .         .         .       g.28368
 TTCCCCAGAATGTCAGATGATAACTGGAAGGACATTTCATTGAACAAGAGGGAGTCAGTG       c.1080
 F  P  R  M  S  D  D  N  W  K  D  I  S  L  N  K  R  E  S  V         p.360

          .         .         .         .         .         .       g.28428
 ATCCAGCAGCGGGTTTATGAAGGGAATGCATTTAGGGGAGGCTTTAGGTTTAATTCAACC       c.1140
 I  Q  Q  R  V  Y  E  G  N  A  F  R  G  G  F  R  F  N  S  T         p.380

          .         .         .         .         .         .       g.28488
 CTTGTTTCCAGAAAGAGAGTTCTTGAAAGAAAGAGGCGCTATCATTTTGACACAGATGGG       c.1200
 L  V  S  R  K  R  V  L  E  R  K  R  R  Y  H  F  D  T  D  G         p.400

          .         .         .         .         .         .       g.28548
 AAGGGCTCGATTCACGATCAAAAAGGCTGTCCCAGGAAGAAGCCCTTTGAATGTGGTAGT       c.1260
 K  G  S  I  H  D  Q  K  G  C  P  R  K  K  P  F  E  C  G  S         p.420

          .         .         .         .         .         .       g.28608
 GAGATGAGAAAAGCCATGAGCGTGAGCAGCCTGAGCAGCCTCAGCTCCCCCTCCTTTACC       c.1320
 E  M  R  K  A  M  S  V  S  S  L  S  S  L  S  S  P  S  F  T         p.440

          .         .         .         .         .         .       g.28668
 GAGTCACAGCCAATTGATTTTGGGGCAATGCCATATGTATGTGATGAGTGTGGGAGGTCG       c.1380
 E  S  Q  P  I  D  F  G  A  M  P  Y  V  C  D  E  C  G  R  S         p.460

          .         .         .         .         .         .       g.28728
 TTCAGTGTCATCTCAGAATTTGTTGAGCACCAGATCATGCATACTAGAGAGAACCTCTAT       c.1440
 F  S  V  I  S  E  F  V  E  H  Q  I  M  H  T  R  E  N  L  Y         p.480

          .         .         .         .         .         .       g.28788
 GAGTATGGTGAGTCCTTTATCCACAGTGTGGCTGTCAGTGAAGTTCAGAAAAGTCAGGTT       c.1500
 E  Y  G  E  S  F  I  H  S  V  A  V  S  E  V  Q  K  S  Q  V         p.500

          .         .         .         .         .         .       g.28848
 GGAGGGAAACGTTTTGAATGTAAGGACTGTGGAGAGACCTTCAATAAGAGTGCCGCCTTG       c.1560
 G  G  K  R  F  E  C  K  D  C  G  E  T  F  N  K  S  A  A  L         p.520

          .         .         .         .         .         .       g.28908
 GCTGAACATCGGAAGATTCATGCTAGAGGTTATCTTGTGGAATGTAAGAATCAGGAATGT       c.1620
 A  E  H  R  K  I  H  A  R  G  Y  L  V  E  C  K  N  Q  E  C         p.540

          .         .         .         .         .         .       g.28968
 GAGGAAGCCTTCATGCCTAGCCCCACCTTTAGTGAGCTTCAGAAAATATATGGCAAAGAC       c.1680
 E  E  A  F  M  P  S  P  T  F  S  E  L  Q  K  I  Y  G  K  D         p.560

          .         .         .         .         .         .       g.29028
 AAATTCTACGAGTGCAGGGTGTGTAAGGAAACCTTCCTTCATAGTTCTGCCCTGATTGAG       c.1740
 K  F  Y  E  C  R  V  C  K  E  T  F  L  H  S  S  A  L  I  E         p.580

          .         .         .         .         .         .       g.29088
 CACCAGAAAATCCACTTTGGGGATGACAAAGATAATGAGCGTGAACATGAACGTGAACGT       c.1800
 H  Q  K  I  H  F  G  D  D  K  D  N  E  R  E  H  E  R  E  R         p.600

          .         .         .         .         .         .       g.29148
 GAACGTGAGCGCGGGGAAACCTTTAGGCCCAGCCCAGCCCTTAATGAGTTTCAGAAAATG       c.1860
 E  R  E  R  G  E  T  F  R  P  S  P  A  L  N  E  F  Q  K  M         p.620

          .         .         .         .         .         .       g.29208
 TATGGTAAAGAGAAAATGTACGAATGTAAGGTGTGTGGGGAGACTTTCCTTCATAGCTCA       c.1920
 Y  G  K  E  K  M  Y  E  C  K  V  C  G  E  T  F  L  H  S  S         p.640

          .         .         .         .         .         .       g.29268
 TCCCTGAAAGAACATCAGAAAATCCATACTAGAGGGAACCCATTTGAAAACAAGGGTAAA       c.1980
 S  L  K  E  H  Q  K  I  H  T  R  G  N  P  F  E  N  K  G  K         p.660

          .         .         .         .         .         .       g.29328
 GTGTGTGAGGAAACCTTTATTCCTGGTCAGTCCCTTAAAAGGCGTCAGAAAACTTACAAT       c.2040
 V  C  E  E  T  F  I  P  G  Q  S  L  K  R  R  Q  K  T  Y  N         p.680

          .         .         .         .         .         .       g.29388
 AAGGAGAAGCTCTGTGACTTTACAGATGGCCGGGATGCCTTCATGCAAAGCTCAGAGCTC       c.2100
 K  E  K  L  C  D  F  T  D  G  R  D  A  F  M  Q  S  S  E  L         p.700

          .         .         .         .         .         .       g.29448
 AGTGAGCATCAGAAAATTCATTCTCGAAAGAACCTCTTTGAAGGCAGAGGGTATGAGAAA       c.2160
 S  E  H  Q  K  I  H  S  R  K  N  L  F  E  G  R  G  Y  E  K         p.720

          .         .         .         .         .         .       g.29508
 TCTGTCATTCATAGTGGGCCATTCACTGAATCTCAGAAGAGTCATACTATAACAAGACCT       c.2220
 S  V  I  H  S  G  P  F  T  E  S  Q  K  S  H  T  I  T  R  P         p.740

          .         .         .         .         .         .       g.29568
 CTTGAAAGTGATGAGGACGAAAAGGCGTTCACCATTAGCTCTAACCCCTATGAAAACCAG       c.2280
 L  E  S  D  E  D  E  K  A  F  T  I  S  S  N  P  Y  E  N  Q         p.760

          .         .         .         .         .         .       g.29628
 AAGATTCCCACTAAGGAAAATGTCTATGAGGCAAAATCATATGAGAGGTCTGTTATTCAT       c.2340
 K  I  P  T  K  E  N  V  Y  E  A  K  S  Y  E  R  S  V  I  H         p.780

          .         .         .         .         .         .       g.29688
 AGCTTAGCCTCTGTGGAAGCTCAGAAAAGTCACAGTGTAGCAGGGCCCAGTAAACCAAAA       c.2400
 S  L  A  S  V  E  A  Q  K  S  H  S  V  A  G  P  S  K  P  K         p.800

          .         .         .         .         .         .       g.29748
 GTAATGGCAGAGTCTACCATTCAGAGCTTCGATGCTATCAACCATCAGAGAGTTCGTGCT       c.2460
 V  M  A  E  S  T  I  Q  S  F  D  A  I  N  H  Q  R  V  R  A         p.820

          .         .         .         .         .         .       g.29808
 GGAGGGAACACCTCTGAAGGAAGGGAATACAGTAGGTCTGTTATCCATAGCTTAGTGGCT       c.2520
 G  G  N  T  S  E  G  R  E  Y  S  R  S  V  I  H  S  L  V  A         p.840

          .         .         .         .         .         .       g.29868
 TCCAAACCTCCAAGAAGTCACAATGGAAATGAATTGGTGGAATCTAATGAGAAGGGAGAA       c.2580
 S  K  P  P  R  S  H  N  G  N  E  L  V  E  S  N  E  K  G  E         p.860

          .         .         .         .         .         .       g.29928
 TCCTCCATTTATATCTCAGACCTTAATGATAAGCGACAGAAGATTCCTGCCAGAGAGAAC       c.2640
 S  S  I  Y  I  S  D  L  N  D  K  R  Q  K  I  P  A  R  E  N         p.880

          .         .         .         .         .         .       g.29988
 CCTTGTGAAGGGGGCAGTAAGAATCGCAACTATGAAGACTCTGTCATACAGAGTGTATTC       c.2700
 P  C  E  G  G  S  K  N  R  N  Y  E  D  S  V  I  Q  S  V  F         p.900

          .         .         .         .         .         .       g.30048
 CGTGCCAAACCTCAGAAAAGTGTTCCTGGAGAGGGATCTGGTGAGTTTAAGAAGGATGGC       c.2760
 R  A  K  P  Q  K  S  V  P  G  E  G  S  G  E  F  K  K  D  G         p.920

          .         .         .         .         .         .       g.30108
 GAATTCTCTGTTCCCAGCTCAAATGTCCGTGAATACCAGAAGGCTCGTGCTAAAAAGAAA       c.2820
 E  F  S  V  P  S  S  N  V  R  E  Y  Q  K  A  R  A  K  K  K         p.940

          .         .         .         .         .         .       g.30168
 TACATTGAGCATAGGAGCAATGAGACCTCTGTAATTCACTCTCTGCCTTTTGGTGAACAA       c.2880
 Y  I  E  H  R  S  N  E  T  S  V  I  H  S  L  P  F  G  E  Q         p.960

          .         .         .         .         .         .       g.30228
 ACATTTCGCCCTCGAGGGATGCTCTATGAATGTCAGGAGTGTGGGGAGTGCTTTGCTCAT       c.2940
 T  F  R  P  R  G  M  L  Y  E  C  Q  E  C  G  E  C  F  A  H         p.980

          .         .         .         .         .         .       g.30288
 AGCTCTGACCTCACTGAGCACCAGAAGATTCATGATAGGGAGAAGCCCTCTGGAAGCAGA       c.3000
 S  S  D  L  T  E  H  Q  K  I  H  D  R  E  K  P  S  G  S  R         p.1000

          .         .         .         .         .         .       g.30348
 AACTATGAATGGTCTGTCATTCGCAGCTTGGCCCCTACTGACCCTCAAACAAGTTACGCC       c.3060
 N  Y  E  W  S  V  I  R  S  L  A  P  T  D  P  Q  T  S  Y  A         p.1020

          .         .         .         .         .         .       g.30408
 CAAGAGCAGTATGCTAAAGAGCAAGCGCGGAACAAATGTAAGGACTTCAGACAATTTTTT       c.3120
 Q  E  Q  Y  A  K  E  Q  A  R  N  K  C  K  D  F  R  Q  F  F         p.1040

          .         .         .         .         .         .       g.30468
 GCTACCAGCGAAGACCTCAACACAAACCAGAAAATCTATGACCAAGAGAAGTCTCATGGC       c.3180
 A  T  S  E  D  L  N  T  N  Q  K  I  Y  D  Q  E  K  S  H  G         p.1060

          .         .         .         .         .         .       g.30528
 GAGGAGTCTCAAGGCGAGAATACTGATGGGGAGGAGACCCACAGCGAGGAGACCCATGGT       c.3240
 E  E  S  Q  G  E  N  T  D  G  E  E  T  H  S  E  E  T  H  G         p.1080

          .         .         .         .         .         .       g.30588
 CAGGAGACAATTGAAGACCCTGTCATTCAAGGCTCAGACATGGAAGACCCTCAGAAGGAT       c.3300
 Q  E  T  I  E  D  P  V  I  Q  G  S  D  M  E  D  P  Q  K  D         p.1100

          .         .         .         .         .         .       g.30648
 GACCCTGATGACAAAATCTATGAATGTGAGGACTGTGGCCTGGGCTTTGTGGATCTCACA       c.3360
 D  P  D  D  K  I  Y  E  C  E  D  C  G  L  G  F  V  D  L  T         p.1120

          .         .         .         .         .         .       g.30708
 GACCTCACAGACCATCAGAAAGTCCACAGCAGGAAGTGCCTGGTTGACAGTCGGGAGTAC       c.3420
 D  L  T  D  H  Q  K  V  H  S  R  K  C  L  V  D  S  R  E  Y         p.1140

          .         .         .         .         .         .       g.30768
 ACACATTCTGTAATTCACACCCATTCCATCAGCGAGTATCAGAGAGATTACACTGGAGAG       c.3480
 T  H  S  V  I  H  T  H  S  I  S  E  Y  Q  R  D  Y  T  G  E         p.1160

          .         .         .         .         .         .       g.30828
 CAGCTGTATGAATGTCCAAAGTGTGGGGAATCTTTTATTCATAGCTCATTCCTTTTCGAG       c.3540
 Q  L  Y  E  C  P  K  C  G  E  S  F  I  H  S  S  F  L  F  E         p.1180

          .         .         .         .         .         .       g.30888
 CATCAGAGAATCCATGAACAAGACCAGTTGTATTCCATGAAGGGGTGTGATGATGGTTTT       c.3600
 H  Q  R  I  H  E  Q  D  Q  L  Y  S  M  K  G  C  D  D  G  F         p.1200

          .         .         .         .         .         .       g.30948
 ATTGCCCTCTTGCCCATGAAGCCACGGAGGAATCGTGCTGCAGAGAGGAATCCTGCTCTT       c.3660
 I  A  L  L  P  M  K  P  R  R  N  R  A  A  E  R  N  P  A  L         p.1220

          .         .         .         .         .         .       g.31008
 GCTGGGTCGGCCATTCGATGCCTTTTGTGTGGACAAGGCTTCATTCATAGCTCTGCCCTT       c.3720
 A  G  S  A  I  R  C  L  L  C  G  Q  G  F  I  H  S  S  A  L         p.1240

          .         .         .         .         .         .       g.31068
 AATGAGCATATGAGACTTCATAGGGAAGATGATTTACTGGAGCAGAGCCAGATGGCTGAG       c.3780
 N  E  H  M  R  L  H  R  E  D  D  L  L  E  Q  S  Q  M  A  E         p.1260

          .         .         .         .         .         .       g.31128
 GAAGCTATCATTCCAGGCTTAGCCCTCACTGAGTTTCAGAGAAGTCAGACCGAAGAGAGA       c.3840
 E  A  I  I  P  G  L  A  L  T  E  F  Q  R  S  Q  T  E  E  R         p.1280

          .         .         .         .         .         .       g.31188
 CTCTTTGAATGTGCAGTCTGTGGAGAATCTTTCGTCAACCCAGCAGAACTTGCAGATCAC       c.3900
 L  F  E  C  A  V  C  G  E  S  F  V  N  P  A  E  L  A  D  H         p.1300

          .         .         .         .         .         .       g.31248
 GTAACTGTTCATAAGAATGAGCCCTATGAGTACGGGTCCTCCTATACTCACACCTCATTT       c.3960
 V  T  V  H  K  N  E  P  Y  E  Y  G  S  S  Y  T  H  T  S  F         p.1320

          .         .         .         .         .         .       g.31308
 CTTACTGAGCCCCTCAAAGGAGCTATACCATTCTATGAATGCAAGGATTGTGGTAAGTCC       c.4020
 L  T  E  P  L  K  G  A  I  P  F  Y  E  C  K  D  C  G  K  S         p.1340

          .         .         .         .         .         .       g.31368
 TTTATTCATAGCACAGTCCTCACTAAACATAAGGAGCTTCATCTGGAAGAAGAAGAAGAA       c.4080
 F  I  H  S  T  V  L  T  K  H  K  E  L  H  L  E  E  E  E  E         p.1360

          .         .         .         .         .         .       g.31428
 GATGAAGCAGCAGCAGCTGCAGCAGCAGCAGCCCAGGAAGTTGAAGCCAATGTCCATGTT       c.4140
 D  E  A  A  A  A  A  A  A  A  A  Q  E  V  E  A  N  V  H  V         p.1380

          .         .         .         .         .         .       g.31488
 CCACAAGTAGTTCTGAGGATTCAGGGCTTAAACGTAGAGGCTGCTGAGCCAGAAGTGGAG       c.4200
 P  Q  V  V  L  R  I  Q  G  L  N  V  E  A  A  E  P  E  V  E         p.1400

          .         .         .         .         .         .       g.31548
 GCTGCCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGCTGAGCCAAACGGA       c.4260
 A  A  E  P  E  V  E  A  A  E  P  E  V  E  A  A  E  P  N  G         p.1420

          .         .         .         .         .         .       g.31608
 GAGGCTGAAGGGCCAGATGGAGAGGCTGCAGAGCCCATTGGAGAGGCTGGACAGCCAAAT       c.4320
 E  A  E  G  P  D  G  E  A  A  E  P  I  G  E  A  G  Q  P  N         p.1440

          .         .         .         .         .         .       g.31668
 GGAGAGGCCGAGCAGCCAAATGGGGATGCTGATGAGCCAGATGGTGCAGGTATTGAAGAC       c.4380
 G  E  A  E  Q  P  N  G  D  A  D  E  P  D  G  A  G  I  E  D         p.1460

          .         .         .         .         .         .       g.31728
 CCAGAAGAAAGAGCTGAAGAGCCAGAGGGAAAAGCTGAAGAGCCAGAGGGAGATGCCGAC       c.4440
 P  E  E  R  A  E  E  P  E  G  K  A  E  E  P  E  G  D  A  D         p.1480

          .         .         .         .         .         .       g.31788
 GAGCCTGACGGTGTGGGAATTGAAGACCCAGAAGAAGGTGAAGATCAAGAGATTCAGGTA       c.4500
 E  P  D  G  V  G  I  E  D  P  E  E  G  E  D  Q  E  I  Q  V         p.1500

          .         .         .         .         .         .       g.31848
 GAAGAACCATACTATGACTGCCATGAATGCACAGAAACCTTCACTTCCAGCACAGCATTC       c.4560
 E  E  P  Y  Y  D  C  H  E  C  T  E  T  F  T  S  S  T  A  F         p.1520

          .         .         .         .         .         .       g.31908
 AGTGAACACCTGAAAACTCATGCCAGCATGATCATATTTGAGCCTGCAAATGCCTTTGGG       c.4620
 S  E  H  L  K  T  H  A  S  M  I  I  F  E  P  A  N  A  F  G         p.1540

          .         .         .         .         .         .       g.31968
 GAGTGCTCAGGCTACATCGAACGTGCCAGCACCAGCACAGGTGGTGCCAATCAAGCTGAT       c.4680
 E  C  S  G  Y  I  E  R  A  S  T  S  T  G  G  A  N  Q  A  D         p.1560

          .         .         .         .         .         .       g.32028
 GAGAAGTACTTCAAATGTGACGTCTGTGGGCAGCTCTTCAATGACCGCCTGTCCCTCGCC       c.4740
 E  K  Y  F  K  C  D  V  C  G  Q  L  F  N  D  R  L  S  L  A         p.1580

          .         .                                               g.32055
 AGACACCAGAATACCCACACTGGCTGA                                        c.4767
 R  H  Q  N  T  H  T  G  X                                          p.1588

          .         .         .         .         .         .       g.32115
 gggcatggggtaaaggttagaaaaccttcacctaggacttgacccttaccaaaccacaga       c.*60

          .         .         .         .         .         .       g.32175
 gaatccaaaccaatccatgataatgtcagtaggagacttaaccttagtgtgttacacacc       c.*120

          .         .         .         .         .         .       g.32235
 tgacttaacatctctaaactcagattgaaaagagaccgaatgtgcagattccacagtctt       c.*180

          .         .         .         .         .         .       g.32295
 aagctttccccttcagatgtcagtgtctgcatgtgggaaagccatagcacacatcttacc       c.*240

          .         .         .         .         .         .       g.32355
 tttccaagtaatcagattgagaaaaccctatgagtattccagactacagagtttgcccaa       c.*300

          .         .         .         .         .         .       g.32415
 atcaactgtaaatgacacttgtgtaacgtatatatagtgtttcatgaggtgtatataaaa       c.*360

          .         .         .         .         .         .       g.32475
 tagcaaattatgacagaacagtgatcacatatatttggatttatatgatatacagttaca       c.*420

          .         .         .         .         .         .       g.32535
 gtttactctgcagaggtaccttacctggtattctttgaattttttttttttttggaggag       c.*480

          .         .         .         .         .         .       g.32595
 gaagagagcaacaaatttgattatatttttaagtgtcttagatcctgagaaagatttatt       c.*540

          .         .         .         .         .         .       g.32655
 gtgcattatttgaaccctgtcaatatctttttgagtaattgttttgtttcttacccttaa       c.*600

          .         .         .         .         .         .       g.32715
 atagtcttgtgaagctgtaggcatgatagataacatggcttttactccttactgtttgaa       c.*660

          .         .         .         .         .         .       g.32775
 aagataagtactttagcttctttctgcagccatttcatctgcgccaacactttggaacct       c.*720

          .         .         .         .         .         .       g.32835
 aatactgtgtaaggctttacaatatacggattggctttttgtgacccagattgattggtt       c.*780

          .         .         .         .         .         .       g.32895
 gccacatgttatgtttgttgaagtggttctcatgcaaaaatattacacatttgtgttctg       c.*840

          .         .         .         .         .         .       g.32955
 ggttttttttttttttaaccaactcaatatgtgtttgatgatagtgaattgataaaaccc       c.*900

          .         .         .         .         .         .       g.33015
 gaagcttttccctgtaaatcttacatctttgcctttaaagaatgggttacaaccatcact       c.*960

          .         .         .         .         .         .       g.33075
 agatcacagtagtgcctaatgaaggttgagaaccgtaggagaggctctcatgctgtaaat       c.*1020

          .         .         .         .         .         .       g.33135
 aatgttgcaggctaataacctttcatcacttcctttgtgcgcttcctgccttaagtgaca       c.*1080

          .         .         .         .         .         .       g.33195
 agtagcaacatggcttgggtcccctgtgcagcatcagcttatgctgccacaagtcagttt       c.*1140

          .         .         .         .         .         .       g.33255
 gcaccctaggtgcccaggagctagtatccttagatctttctatcgctaacttaattctct       c.*1200

          .         .         .         .         .         .       g.33315
 tcgttatttatctgaccctctaactccatgtctaacttgcattaaaaaaaaaaaaattct       c.*1260

          .         .         .         .         .         .       g.33375
 ttacagtcaacccaagcttaacatggactcaggttccccagcagccttaatttgttttgt       c.*1320

          .         .         .         .         .         .       g.33435
 taacatctgttccttctttttcagctctcctagagtatttctgagtgttgtgttcatcta       c.*1380

          .         .         .         .         .         .       g.33495
 atcttagtattcttttaattacaaattgacctcacagcttgaggtttcttgtgtcctatt       c.*1440

          .         .         .         .         .         .       g.33555
 ctgtggactacctgtgctcctttgcttcccctcccctcgcataataactatattaagaaa       c.*1500

          .         .         .         .         .         .       g.33615
 ttttttttggccttgagttggctggaaaaaaaatataaaatttaaaaaatttaaaaaaaa       c.*1560

          .         .         .         .         .         .       g.33675
 agatttgcaaaatgtaagtgtagatcatttgaacaagcaaaattaaagtacccactgggg       c.*1620

          .         .         .         .         .         .       g.33735
 gaaatgtgtctgaatcttactcttctggatctgcaggattagggcttggaagtatgtcaa       c.*1680

          .         .         .         .         .         .       g.33795
 agatgcagggagtgtcaaagtttaggaagattgtagagctgagagcaagaagcagaaatg       c.*1740

          .         .         .         .         .         .       g.33855
 agtgagtcaaagaagggagtcctaatatatcaccagatctaggaggggagaggagacaga       c.*1800

          .         .         .         .         .         .       g.33915
 cagaagaaaacaccagaggcaagaactgtagaaggccaggtttctgagaatgaattgagc       c.*1860

          .         .         .         .         .         .       g.33975
 ggggtgtcctgagcagtttggaaaaggagtttttgatggtatggtgtaggtgagggctgg       c.*1920

          .         .         .         .         .         .       g.34035
 ctgcataggaaggactgaggttggaacggacatcgggaaagctgaggggcagtgaggttt       c.*1980

          .         .         .         .         .         .       g.34095
 actacatgggaaaaggactcttgaaacgagaatcagtgttgatgtcggggtgaactttgt       c.*2040

          .         .         .         .         .         .       g.34155
 gggtacattacttggtgttaacattgttggcagtggtagccccttttcagaaagcaactt       c.*2100

          .         .         .         .         .         .       g.34215
 gctgtaagtcagggtgtccgttccaaccttcagctagtgaaaaggtagtaacaaatggta       c.*2160

          .         .         .         .         .         .       g.34275
 aacaagagaatgattgtttaaacctatctgtggacacttaatgcaactgtttaaaaatga       c.*2220

          .         .         .         .         .         .       g.34335
 taatcacgagttatgtagcaacgtggaaatatatttacagaacattaagtggagaaagca       c.*2280

          .         .         .         .         .         .       g.34395
 ggacacgaaagtatatttatactacagttataactcaacagttcatttatatgctgttca       c.*2340

          .         .         .         .         .         .       g.34455
 tttaacagttcatttaaacagttcattataactgtttaaaaatatatatgcttatagtca       c.*2400

          .         .         .         .         .         .       g.34515
 aaagctgttgtggtgttgttgttgtaggcttatagttgagcattattttcttaaatttct       c.*2460

          .         .         .         .         .         .       g.34575
 tgaatgttctttatggtagtgttactaaaaagtttatgatcacattttcattgtgaacat       c.*2520

          .         .         .         .         .         .       g.34635
 aatttgaactcattatcacacacttggaaaatacagaaaagtggaggaaaaaaaatcata       c.*2580

          .         .         .         .         .         .       g.34695
 tccccaccatccaaagacatatactctcctcttatcttgttcattcttgtttctgtgcac       c.*2640

          .         .         .         .         .         .       g.34755
 aggtttatgattataactgtgtcaaaatgtatattcaaaatagctgttacattacctttg       c.*2700

          .         .         .         .         .         .       g.34815
 tggaattatggttaaatactttcactttaattttttcaaatgttccctataataatgtcc       c.*2760

          .         .         .         .         .         .       g.34875
 tgataacagtgtattatgtgtgtctccattggtgtgcataatacatacccagaggaaaaa       c.*2820

          .         .         .         .         .         .       g.34935
 ttagaaaataaagtaaattattttaaaaaattacctatattcccaacacctaacaactac       c.*2880

          .         .         .         .         .         .       g.34995
 tgctaacatcttgatctgtttcctctatcttgtttcagtgcacacgcttgtgataacagt       c.*2940

          .         .         .         .         .         .       g.35055
 gttaaatatgtgtgcataaagtcttaaatgaaaagatgtggaaaataactaaaatagtgt       c.*3000

          .         .         .         .         .         .       g.35115
 tgtcattgtgggaatttggttaaatattttgtctcaaattccttaaataatctttggtgt       c.*3060

          .         .         .         .         .         .       g.35175
 tttggtaataaattttatgtatgtattttccattacaaatataatacatactcatacaaa       c.*3120

          .         .         .         .         .         .       g.35235
 actttggaaattcagtaaagaaaattcacacatattcccaacacccaacaacaattaact       c.*3180

          .         .         .         .         .         .       g.35295
 gttaacatcttgatctgtgcactagtctgtgattattagggtgttagtgataagtatgca       c.*3240

          .         .         .         .         .         .       g.35355
 taaatgtcaaagatgggaagaaagatgaaaaacaagaaatagttgtgtggttgttgtggg       c.*3300

          .         .         .         .         .         .       g.35415
 attatggttattttgtttcggtttccttgaaaggtcatcattctagtgttttggtagtcc       c.*3360

          .         .         .         .         .         .       g.35475
 acctttactacatatatttccattatatatgaaatgtgttcattatagaaactttgaagt       c.*3420

          .         .         .         .         .         .       g.35535
 tacagaaatgtagaagagaaactcacccatgttttcaccatccaaagagtgtggttaaca       c.*3480

          .         .         .         .         .         .       g.35595
 tcttgatatattttcttcatcttgtttctgtgcacaggtttttggtttgttaatatggtt       c.*3540

          .         .         .         .         .                 g.35653
 gtggtcattctatctgtaatagtgtcaacaataaaaataaagttaaaaataaatattt         c.*3598

 (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 Paternally expressed 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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