phosphodiesterase 11A (PDE11A) - coding DNA reference sequence

(used for variant description)

(last modified October 23, 2018)


This file was created to facilitate the description of sequence variants on transcript NM_016953.3 in the PDE11A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_012168.1, covering PDE11A transcript NM_016953.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.40602
                                           gcagcggcggcagccaga       c.-301

 .         .         .         .         .         .                g.40662
 acaggagcagcgatagctcgggtttccggaacaggagccggggcagcggcggcagctcag       c.-241

 .         .         .         .         .         .                g.40722
 tgctgggcacctgtgcggagcaggagtagcaggaccacggggtggggtcggcgccagcca       c.-181

 .         .         .         .         .         .                g.40782
 ctctgagccagagaaggaaggggcatctcccagattccactgctgggaataatctccagg       c.-121

 .         .         .         .         .         .                g.40842
 ggaggtggcgctgaactgggaatactggtgggggtgaacatgtgcaggaacagctagagg       c.-61

 .         .         .         .         .         .                g.40902
 cctcggggcaggaaaacatttggttcacgtgtaaacaggcaaggaaagctgtctgggacc       c.-1

          .         .         .         .         .         .       g.40962
 ATGGCAGCCTCCCGCCTGGACTTTGGGGAGGTGGAAACTTTCCTGGACAGGCACCCAGAG       c.60
 M  A  A  S  R  L  D  F  G  E  V  E  T  F  L  D  R  H  P  E         p.20

          .         .         .         .         .         .       g.41022
 TTGTTTGAAGATTACTTGATGCGGAAGGGGAAGCAGGAGATGGTTGAAAAGTGGCTGCAG       c.120
 L  F  E  D  Y  L  M  R  K  G  K  Q  E  M  V  E  K  W  L  Q         p.40

          .         .         .         .         .         .       g.41082
 AGGCACAGTCAGGGTCAGGGGGCTTTAGGTCCAAGGCCCTCTTTGGCTGGTACCAGCAGC       c.180
 R  H  S  Q  G  Q  G  A  L  G  P  R  P  S  L  A  G  T  S  S         p.60

          .         .         .         .         .         .       g.41142
 TTGGCTCACAGCACCTGCAGAGGTGGCAGCAGCGTTGGTGGTGGCACTGGACCAAATGGC       c.240
 L  A  H  S  T  C  R  G  G  S  S  V  G  G  G  T  G  P  N  G         p.80

          .         .         .         .         .         .       g.41202
 TCTGCCCACAGCCAGCCCCTTCCCGGTGGCGGGGACTGTGGTGGGGTTCCCTTGAGTCCC       c.300
 S  A  H  S  Q  P  L  P  G  G  G  D  C  G  G  V  P  L  S  P         p.100

          .         .         .         .         .         .       g.41262
 AGCTGGGCCGGTGGCAGCAGGGGCGATGGGAACCTGCAGCGGAGAGCTTCTCAGAAAGAG       c.360
 S  W  A  G  G  S  R  G  D  G  N  L  Q  R  R  A  S  Q  K  E         p.120

          .         .         .         .         .         .       g.41322
 CTAAGGAAGAGTTTTGCCCGCTCCAAGGCCATCCACGTGAACAGGACCTACGATGAACAG       c.420
 L  R  K  S  F  A  R  S  K  A  I  H  V  N  R  T  Y  D  E  Q         p.140

          .         .         .         .         .         .       g.41382
 GTGACCTCCCGGGCTCAGGAACCCCTGAGTAGTGTACGACGGAGGGCACTTCTCCGGAAG       c.480
 V  T  S  R  A  Q  E  P  L  S  S  V  R  R  R  A  L  L  R  K         p.160

          .         .         .         .         .         .       g.41442
 GCAAGCTCCCTGCCCCCCACCACAGCCCATATTCTCAGTGCGCTGCTGGAATCGAGAGTG       c.540
 A  S  S  L  P  P  T  T  A  H  I  L  S  A  L  L  E  S  R  V         p.180

          .         .         .         .         .         .       g.41502
 AATCTGCCTCGGTATCCCCCTACAGCCATCGACTACAAGTGCCATCTGAAAAAGCATAAT       c.600
 N  L  P  R  Y  P  P  T  A  I  D  Y  K  C  H  L  K  K  H  N         p.200

          .         .         .         .         .         .       g.41562
 GAGCGTCAGTTCTTTCTGGAATTGGTCAAAGATATCTCCAATGACCTTGACCTCACCAGC       c.660
 E  R  Q  F  F  L  E  L  V  K  D  I  S  N  D  L  D  L  T  S         p.220

          .         .         .         .         .         .       g.41622
 CTGAGCTACAAGATTCTCATCTTTGTCTGCCTTATGGTGGATGCTGACCGCTGCTCTCTT       c.720
 L  S  Y  K  I  L  I  F  V  C  L  M  V  D  A  D  R  C  S  L         p.240

          .         .         .         .         .         .       g.41682
 TTCCTGGTGGAAGGGGCAGCTGCTGGCAAGAAGACCTTGGTCTCCAAATTCTTTGATGTG       c.780
 F  L  V  E  G  A  A  A  G  K  K  T  L  V  S  K  F  F  D  V         p.260

          .         .         .         .         .         .       g.41742
 CATGCAGGAACACCTCTGCTGCCTTGCAGCAGCACAGAGAACTCAAATGAGGTGCAGGTC       c.840
 H  A  G  T  P  L  L  P  C  S  S  T  E  N  S  N  E  V  Q  V         p.280

          .         .         .         .         .         .       g.41802
 CCCTGGGGCAAAGGTATCATTGGCTATGTCGGGGAGCATGGAGAAACGGTCAACATTCCT       c.900
 P  W  G  K  G  I  I  G  Y  V  G  E  H  G  E  T  V  N  I  P         p.300

          .   | 02     .         .         .         .         .    g.98927
 GATGCCTACCAG | GATCGACGATTCAATGATGAAATCGACAAGCTAACTGGATACAAGACA    c.960
 D  A  Y  Q   | D  R  R  F  N  D  E  I  D  K  L  T  G  Y  K  T      p.320

          .         .         .         .         .         .       g.98987
 AAATCATTATTGTGCATGCCTATCCGAAGCAGTGATGGTGAGATTATTGGTGTGGCCCAA       c.1020
 K  S  L  L  C  M  P  I  R  S  S  D  G  E  I  I  G  V  A  Q         p.340

          .         .         .         .         .  | 03      .    g.208161
 GCGATAAATAAGATTCCTGAAGGAGCTCCATTTACTGAAGATGATGAAAAA | GTTATGCAG    c.1080
 A  I  N  K  I  P  E  G  A  P  F  T  E  D  D  E  K   | V  M  Q      p.360

          .         .         .         .         .         .       g.208221
 ATGTATCTTCCATTTTGTGGAATCGCCATATCTAACGCTCAGCTCTTTGCTGCCTCAAGG       c.1140
 M  Y  L  P  F  C  G  I  A  I  S  N  A  Q  L  F  A  A  S  R         p.380

          .         .  | 04      .         .         .         .    g.215180
 AAAGAATATGAAAGAAGCAGA | GCTTTGCTAGAGGTGGTTAATGACCTCTTTGAAGAACAG    c.1200
 K  E  Y  E  R  S  R   | A  L  L  E  V  V  N  D  L  F  E  E  Q      p.400

          .         .         .         .         .         .       g.215240
 ACTGACCTGGAGAAAATTGTCAAGAAAATAATGCATCGGGCCCAAACTCTGCTGAAATGT       c.1260
 T  D  L  E  K  I  V  K  K  I  M  H  R  A  Q  T  L  L  K  C         p.420

          .         .         .         .   | 05     .         .    g.237434
 GAACGCTGTTCTGTTTTACTCCTAGAGGACATCGAATCACCA | GTGGTGAAATTTACCAAA    c.1320
 E  R  C  S  V  L  L  L  E  D  I  E  S  P   | V  V  K  F  T  K      p.440

          .         .         .         .        | 06.         .    g.272969
 TCCTTTGAATTGATGTCCCCAAAGTGCAGTGCTGATGCTGAGAACAG | TTTCAAAGAAAGC    c.1380
 S  F  E  L  M  S  P  K  C  S  A  D  A  E  N  S  |  F  K  E  S      p.460

          .         .         .         .         .         .       g.273029
 ATGGAGAAATCATCATACTCCGACTGGCTAATAAATAACAGCATTGCTGAGCTGGTTGCT       c.1440
 M  E  K  S  S  Y  S  D  W  L  I  N  N  S  I  A  E  L  V  A         p.480

          .         .         .         .         .         .       g.273089
 TCAACAGGCCTTCCAGTGAACATCAGTGATGCCTACCAGGATCCGCGCTTTGATGCAGAG       c.1500
 S  T  G  L  P  V  N  I  S  D  A  Y  Q  D  P  R  F  D  A  E         p.500

  | 07       .         .         .         .         .         .    g.293104
  | GCAGACCAGATATCTGGTTTTCACATAAGATCTGTTCTTTGTGTCCCTATTTGGAATAGC    c.1560
  | A  D  Q  I  S  G  F  H  I  R  S  V  L  C  V  P  I  W  N  S      p.520

          .       | 08 .         .         .         .         .    g.295458
 AACCACCAAATAATTG | GAGTGGCTCAAGTGTTAAACAGACTTGATGGGAAACCTTTTGAT    c.1620
 N  H  Q  I  I  G |   V  A  Q  V  L  N  R  L  D  G  K  P  F  D      p.540

          .         .     | 09   .         .         .         .    g.296454
 GATGCAGATCAACGACTTTTTGAG | GCTTTTGTCATCTTTTGTGGACTTGGCATCAACAAC    c.1680
 D  A  D  Q  R  L  F  E   | A  F  V  I  F  C  G  L  G  I  N  N      p.560

          .         .         .         .         .        | 10.    g.343968
 ACAATTATGTATGATCAAGTGAAGAAGTCCTGGGCCAAGCAGTCTGTGGCTCTTGAT | GTG    c.1740
 T  I  M  Y  D  Q  V  K  K  S  W  A  K  Q  S  V  A  L  D   | V      p.580

          .         .         .         .         | 11         .    g.385178
 CTATCATACCATGCAACATGTTCAAAAGCTGAAGTTGACAAGTTTAAG | GCAGCCAACATC    c.1800
 L  S  Y  H  A  T  C  S  K  A  E  V  D  K  F  K   | A  A  N  I      p.600

          .         .         .         .         .         .       g.385238
 CCTCTGGTGTCAGAACTTGCCATCGATGACATTCATTTTGATGACTTTTCTCTCGACGTT       c.1860
 P  L  V  S  E  L  A  I  D  D  I  H  F  D  D  F  S  L  D  V         p.620

          .         .         .         .         .         .       g.385298
 GATGCCATGATCACAGCTGCTCTCCGGATGTTCATGGAGCTGGGGATGGTACAGAAATTT       c.1920
 D  A  M  I  T  A  A  L  R  M  F  M  E  L  G  M  V  Q  K  F         p.640

          .      | 12  .         .         .         .         .    g.385618
 AAAATTGACTATGAG | ACACTGTGTAGGTGGCTTTTGACAGTGAGGAAAAACTATCGGATG    c.1980
 K  I  D  Y  E   | T  L  C  R  W  L  L  T  V  R  K  N  Y  R  M      p.660

          .         .         .         .         .         .       g.385678
 GTTCTATACCACAACTGGAGACATGCCTTCAACGTGTGTCAGCTGATGTTCGCGATGTTA       c.2040
 V  L  Y  H  N  W  R  H  A  F  N  V  C  Q  L  M  F  A  M  L         p.680

     | 13    .         .         .         .         .         .    g.401517
 ACC | ACTGCTGGGTTTCAAGACATTCTGACCGAGGTGGAAATTTTAGCGGTGATTGTGGGA    c.2100
 T   | T  A  G  F  Q  D  I  L  T  E  V  E  I  L  A  V  I  V  G      p.700

          .         .         .         .         .    | 14    .    g.412134
 TGCCTGTGTCATGACCTCGACCACAGGGGAACCAACAATGCCTTCCAAGCTAA | GAGTGGC    c.2160
 C  L  C  H  D  L  D  H  R  G  T  N  N  A  F  Q  A  K  |  S  G      p.720

          .         .         .         .         .         .       g.412194
 TCTGCCCTGGCCCAACTCTATGGAACCTCTGCTACCTTGGAGCATCACCATTTCAACCAC       c.2220
 S  A  L  A  Q  L  Y  G  T  S  A  T  L  E  H  H  H  F  N  H         p.740

          .         .     | 15   .         .         .         .    g.415942
 GCCGTGATGATCCTTCAAAGTGAG | GGTCACAATATCTTTGCTAACCTGTCCTCCAAGGAA    c.2280
 A  V  M  I  L  Q  S  E   | G  H  N  I  F  A  N  L  S  S  K  E      p.760

          .         .         .         .         .         .       g.416002
 TATAGTGACCTTATGCAGCTTTTGAAGCAGTCAATATTGGCAACAGACCTCACGCTGTAC       c.2340
 Y  S  D  L  M  Q  L  L  K  Q  S  I  L  A  T  D  L  T  L  Y         p.780

       | 16  .         .         .         .         .         .    g.432490
 TTTGA | GAGGAGAACTGAATTCTTTGAACTTGTCAGTAAAGGAGAATACGATTGGAACATC    c.2400
 F  E  |  R  R  T  E  F  F  E  L  V  S  K  G  E  Y  D  W  N  I      p.800

          .         .    | 17    .         .         .         .    g.437857
 AAAAACCATCGTGATATATTTCG | ATCAATGTTAATGACAGCCTGTGACCTTGGAGCCGTG    c.2460
 K  N  H  R  D  I  F  R  |  S  M  L  M  T  A  C  D  L  G  A  V      p.820

          .         .        | 18.         .         .         .    g.443804
 ACCAAACCGTGGGAGATCTCCAGACAG | GTGGCAGAACTTGTAACCAGTGAGTTCTTCGAA    c.2520
 T  K  P  W  E  I  S  R  Q   | V  A  E  L  V  T  S  E  F  F  E      p.840

          .         .         .         .   | 19     .         .    g.449407
 CAAGGAGATCGGGAGAGATTAGAGCTCAAACTCACTCCTTCA | GCAATTTTTGATCGGAAC    c.2580
 Q  G  D  R  E  R  L  E  L  K  L  T  P  S   | A  I  F  D  R  N      p.860

          .         .         .         .         .         .       g.449467
 CGGAAGGATGAACTGCCTCGGTTGCAACTGGAGTGGATTGATAGCATCTGCATGCCTTTG       c.2640
 R  K  D  E  L  P  R  L  Q  L  E  W  I  D  S  I  C  M  P  L         p.880

        | 20 .         .         .         .         .         .    g.483830
 TATCAG | GCACTGGTGAAGGTCAACGTGAAACTGAAGCCGATGCTAGATTCAGTAGCTACA    c.2700
 Y  Q   | A  L  V  K  V  N  V  K  L  K  P  M  L  D  S  V  A  T      p.900

          .         .         .         .         .         .       g.483890
 AACAGAAGTAAGTGGGAAGAGCTACACCAAAAACGACTGCTGGCCTCAACTGCCTCATCC       c.2760
 N  R  S  K  W  E  E  L  H  Q  K  R  L  L  A  S  T  A  S  S         p.920

          .         .         .         .                           g.483932
 TCCCCTGCCAGTGTTATGGTAGCCAAGGAAGACAGGAACTAA                         c.2802
 S  P  A  S  V  M  V  A  K  E  D  R  N  X                           p.933

          .         .         .         .         .         .       g.483992
 acctccaggtcagctgcagctgcaaaatgactacagcctgaagggccattttcagtccag       c.*60

          .         .         .         .         .         .       g.484052
 caatgtcatccttttgttcttttagctcagaaagacctaacatctcaaggatgcactggg       c.*120

          .         .         .         .         .         .       g.484112
 aagcatgcctgggctttcaccttgaagcatggtcagcagcagagagagcaacgggaagga       c.*180

          .         .         .         .         .         .       g.484172
 caaagaaagaggtggggcagggagcacaccccaggaccctcacttttccctaatgaacac       c.*240

          .         .         .         .         .         .       g.484232
 gcatgggctgaaatgaaggctctgggtaggggactgttttggatccaaggacctgtggac       c.*300

          .         .         .         .         .         .       g.484292
 agtcggcctacttactctgagctgagggaacactgaacagtaaaagcgtcattagcgctg       c.*360

          .         .         .         .         .         .       g.484352
 cttcgttttgtatagggcttttctgtttgttacaagccaaacactgcctgtctttgcttc       c.*420

          .         .         .         .         .         .       g.484412
 ctgtccctgaatgcctttttgtgccagactgtcccaagaatcctaatttgtattccatag       c.*480

          .         .         .         .         .         .       g.484472
 aggtattttatttttaatcctagagcttcttattgatggatcctttagaattgcctacct       c.*540

          .         .         .         .         .         .       g.484532
 aaaaggtaaactatactatccttataaatactgatcaatcccagttctccccctaaaaat       c.*600

          .         .         .         .         .         .       g.484592
 gaatacatagtaggactatagcaaatgtgtttgatgggtaattctagactgggactatgg       c.*660

          .         .         .         .         .         .       g.484652
 tacccttttccagagttttaaaattcaaccttcattacagacaaagttttctcccagaag       c.*720

          .         .         .         .         .         .       g.484712
 gaatggattgatagattttgattaaagtaagggtggaaggaaatctgtagctggatttac       c.*780

          .         .         .         .         .         .       g.484772
 cacaagtgacatctagaaactatagttcacaggacagagcagagccatggagactaagca       c.*840

          .         .         .         .         .         .       g.484832
 ttgactaccttgagttctcctagtgaggagttctggtataaaatttaagattactaccag       c.*900

          .         .         .         .         .         .       g.484892
 taaccaacttaaagcaaactataggggtccctaattttggatttttccttaagtgtaaga       c.*960

          .         .         .         .         .         .       g.484952
 aacaatgcttcaaatgttaagaaataacagtctgggcaaagaacgcatattctataggaa       c.*1020

          .         .         .         .         .         .       g.485012
 gccaggtttacaataggtaagaataaactgtattaagtagatgtaatgactagaaagctg       c.*1080

          .         .         .         .         .         .       g.485072
 ctttgctccctatattgagaaattgtggacatggtatgtgttatccaaagaacattgggc       c.*1140

          .         .         .         .         .         .       g.485132
 tagaagatagatttctatccttagctttggcattattgactggattgacttgaacaagtc       c.*1200

          .         .         .         .         .         .       g.485192
 acttaacttctacaagcttgtttccttatttgtcaaattagattacactaggaaacgatt       c.*1260

          .         .         .         .         .         .       g.485252
 ctcgaacatgttttaaccttacaactctttgttcaaataaatctttcaatgaatccccaa       c.*1320

          .         .         .         .         .         .       g.485312
 catataaaacgtcaaaaagctgaattcctatgtgaattataagcagggtttggacatcca       c.*1380

          .         .         .         .         .         .       g.485372
 gagcacctacaaaccttcatctctttgattacgtacatgggggtccacagggactctgaa       c.*1440

          .         .         .         .         .         .       g.485432
 gagtttgaaaatccctggcctagattaaacctgagagccattctagctcttaaaaaaatc       c.*1500

          .         .         .         .         .         .       g.485492
 tgaaatttacaaaccatttttcttgttattgtttttgtttctttgtttgtttgttttttg       c.*1560

          .         .         .         .         .         .       g.485552
 agactgagttttcactcttgttgcccaggctggagtgcaatggcgtgatctcggcttact       c.*1620

          .         .         .         .         .         .       g.485612
 gcaacctctgcttcctgggttcaagcaattctccagcctcaacctcctgagaagctggga       c.*1680

          .         .         .         .         .         .       g.485672
 ttacaggtgcctgccaccacgcctggctaatttttgtacttttagtagacacagggtttc       c.*1740

          .         .         .         .         .         .       g.485732
 accatgtttgccaggctgatctcaaactcctgacctcaggtgagccacccacctctgcct       c.*1800

          .         .         .         .         .         .       g.485792
 ccgaaagtgctgggattacaggcgtgagccaccgtacccggcccttgttattgttattaa       c.*1860

          .         .         .         .         .         .       g.485852
 tcattatcaatcattaactttacagatattaaagaaataggggccatgttctacatgcga       c.*1920

          .         .         .         .         .         .       g.485912
 cattgttttcctggcacacagtagacaattcaggaaatgtctgaagaaggaatgggtaaa       c.*1980

          .         .         .         .         .         .       g.485972
 attaagataccaaaatggaattgaggggagagcaggtaattgtagagaaaaagactcttt       c.*2040

          .         .         .         .         .         .       g.486032
 atggcaagaaacaaagtaaaagaaatgtatagaccgggcgcggtggctcacgcctgtaat       c.*2100

          .         .         .         .         .         .       g.486092
 cccagcaatttggaaggccgaggcgggcggatcacgaggtcaggagatcgagaccgtcct       c.*2160

          .         .         .         .         .         .       g.486152
 ggctaacacggtgaaaccctgtctctactaaaaaacacaaaacaaattagccaggcgcgg       c.*2220

          .         .         .         .         .         .       g.486212
 tggcaggcgtctgtagtcccagctactggggaggctgaggcaagagaatggcgggaaccc       c.*2280

          .         .         .         .         .         .       g.486272
 gcgaggcggagcttgcagtgagtcgagatcacgtcactgccctccagcctgggcgaccag       c.*2340

          .         .         .         .         .         .       g.486332
 cgagactccgtctcaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaagtataaaccag       c.*2400

          .         .         .         .         .         .       g.486392
 actaagaggggaataaaagcaagaagaaaaagaaacgtaagaacaccagtaaaggaaaga       c.*2460

          .         .         .         .         .         .       g.486452
 cagggaccgagacaggtggttaagggaaatgaaaaaaaaaaaaaaaaggtgaaagtcaat       c.*2520

          .         .         .         .         .         .       g.486512
 ccaaacaaagaaaaatggcacttccaaccaaaaaaaatgaaggtgtagaaccctgtcatc       c.*2580

          .         .         .         .         .         .       g.486572
 aattgctcagaaaagagagacacttgagcagggaggggtttgagaaaggggagaaggaag       c.*2640

          .         .         .         .         .         .       g.486632
 gagtgagagccctaaaaaataatgttcctagctaccctttacagctgtctctgcagggaa       c.*2700

          .         .         .         .         .         .       g.486692
 gactggagaaagtagagggggaaatgaatgcaggaagaaactgcctctgcagagcaggta       c.*2760

          .         .         .         .         .         .       g.486752
 agaggaggttgttcagatttatggattttattaagccagttttctgtatcactctgctat       c.*2820

          .         .         .         .         .         .       g.486812
 aaaggaaaatagcttctgcagggctgtctctcctccttcaggtggggaacaaagggtggg       c.*2880

          .         .         .         .         .         .       g.486872
 tggagtcagggacagagtctggtctgcgagatcgtgacgtgtctgcagctccgaagcact       c.*2940

          .         .         .         .         .         .       g.486932
 gcaggtgtttctgggtaatgtgccacatcatgtttatatcacgaacgggaattgaaaatc       c.*3000

          .         .         .         .         .         .       g.486992
 agtctgtgtgaggcagagatgagcccacatctgttatcctccccaacaataaataaataa       c.*3060

          .         .         .         .         .         .       g.487052
 atagcccagacaaatggatgccagtccatctacagcaacattttaaagcatgtgctttat       c.*3120

          .         .         .         .         .         .       g.487112
 gacaaaactggacccagggtctgacagagactgcaggctgccgtgagcactgtagctatc       c.*3180

          .         .         .         .         .         .       g.487172
 ctgaacattgatgctacatattgctaaggggaacataatttatagcataaaccctacaag       c.*3240

          .         .         .         .         .         .       g.487232
 cttccactaaggttgagttttcctctcattttcttgccgttttattggcttcactgcatg       c.*3300

          .         .         .         .         .         .       g.487292
 gttgccaatagcaacatccactggtagcaaggggagttcaacaccattgcaatctgccat       c.*3360

          .         .         .         .         .         .       g.487352
 acagtggagccctgacaatgtcaaccatcaatctagtagctgtttgtaattgcctccatc       c.*3420

          .         .         .         .         .         .       g.487412
 tatttctcctgtcttgaggtatctttcctattgtgggtcaagatttagaaactgctgact       c.*3480

          .         .         .         .         .         .       g.487472
 aatgccatgggtctgtgtctccatgactatgaagcagtggacaggaaggtagcagcttcc       c.*3540

          .         .         .         .         .         .       g.487532
 tggtgccaacaaccccagaggttagaggttgaactcttgcgggtttcaggcgtttttaat       c.*3600

          .         .         .         .         .         .       g.487592
 cccttttctaaacaatttataattttgcaagaatgtgaggcatatgcagttatccatata       c.*3660

          .         .         .         .         .         .       g.487652
 atctgcttttccaaaaaagagaaaggaagtttcccagtccttattattaatgtttatttc       c.*3720

          .         .         .         .         .         .       g.487712
 ctattggagaaagacatttgaaatatgagccttcttgtaaaaactcaaactgaccagatt       c.*3780

          .         .         .         .         .         .       g.487772
 atgtttgcttcctcaggtctcttggcattaattgttgaaataacttcatcctactttttc       c.*3840

          .         .         .         .         .         .       g.487832
 gatgagatgtatttttttcagacatatttattcttactagtcactatgtagctattatgt       c.*3900

          .         .         .         .         .         .       g.487892
 gcacaatctacaatgtagtggcaatcctggtgggtagggacagcttcacatactgcaaag       c.*3960

          .         .         .         .         .         .       g.487952
 ggtgccattcagtgcatagcagactggaactccctcctagcttggccaccagctgaacct       c.*4020

          .         .         .         .         .         .       g.488012
 gtaatcttaggactctccaagtcttagaatctccatctattacataaaagcactgacttt       c.*4080

          .         .         .         .         .         .       g.488072
 tattcagtccccacaccaaaggaccaagacgtgtttagctttaaagaaattttccagata       c.*4140

          .         .         .         .         .         .       g.488132
 attttcttttttattcttctcaaataaaatagcaacaaacctaaagcagtcatcttctta       c.*4200

          .         .         .         .         .         .       g.488192
 ataaagacataataaaacttacatatatggggtagatgtaagcacaatcatactacagat       c.*4260

          .         .         .         .         .         .       g.488252
 gtatcttgagcctgtctctaattatgatgaaagatgtagtcatcaatacaatttaaaaaa       c.*4320

          .         .         .         .         .         .       g.488312
 agatatgtcctttttttgagacagggtcttgctctgtcacccaggctggagggcagtggc       c.*4380

          .         .         .         .         .         .       g.488372
 acaatcacagccactgcagccttgacctctccaacttaagtgatctttcctgcctcagcc       c.*4440

          .         .         .         .         .         .       g.488432
 tcatgagtagctgggaccacaggtgtgcaccaccacacccagctaaattttgtattgttt       c.*4500

          .         .         .         .         .         .       g.488492
 gtaaagacgaggcctcactatgctgaccacactggtctcgaactcctgggctcaagcaat       c.*4560

          .         .         .         .         .         .       g.488552
 cctcctgccttggcctcccaaagtgttagggttagagatatgaaccaccacacccacctt       c.*4620

          .         .         .         .         .         .       g.488612
 atatgtccttttatttcataaaaaacaattttagattatctgatatcacacatatcccat       c.*4680

          .         .         .         .         .         .       g.488672
 aaatggtagtcattaatttagaagtgaatttataaagttaagagaagttaaaattgcaca       c.*4740

          .         .         .         .         .         .       g.488732
 tgcattttgtttctaaaatctgagatgtctatgcatttccaggtattgtatatttgcaaa       c.*4800

          .         .         .         .         .         .       g.488792
 tacattgggttagaaatcatctttaacattttgtgttagtgtaataacaatattatctaa       c.*4860

          .         .         .         .         .         .       g.488852
 tattaatgctgccagaatccagttgctttttctgtgtatcaaaatttatcataacttttt       c.*4920

          .         .         .         .         .         .       g.488912
 ccacttaacactaggtaattaaacagaatctgcccaatttattctgcagtaaaattattt       c.*4980

          .         .         .         .         .         .       g.488972
 taaaatctatttttcctgctgactcttagaaattgcagaaagacaaaaaccagtttcatc       c.*5040

          .         .         .         .         .         .       g.489032
 tccagtaatagtgtgaaacaatttccttccagtgggacagaaacctagacatactaggga       c.*5100

          .         .         .         .         .         .       g.489092
 aagatttaaatataaagaaaaatgccttggctgaaaaaaaaaaaaaccaccaaaacacaa       c.*5160

          .         .         .         .         .         .       g.489152
 aaaggattcattaaagcaacagaacaaaacctaatttgggaccctaaaaactctggcaat       c.*5220

          .         .         .         .         .         .       g.489212
 gccactgtaatgaagtttcattatctgcttcagagtaacagtctctgaaattgttattct       c.*5280

          .         .         .         .         .         .       g.489272
 gctacatgctgtaaagaactcccaaaactcaaatgtatcaggaaatgtaaaggttaagtc       c.*5340

          .         .         .         .         .         .       g.489332
 tgactacaagaaggccaaaattgcaccagcttcctaagtgaagaataatagaataaaaca       c.*5400

          .         .         .         .         .         .       g.489392
 tatagagggcagaaataaaatgaggtgtatctggagaatttcatgatgagcatttagatt       c.*5460

          .         .         .         .         .         .       g.489452
 tagcaatgcccaatgtcatgctgacactgtttgtcatgaccttgtcttcagctagtaatt       c.*5520

          .         .         .         .         .         .       g.489512
 tggggttgtacttttttaaatttaattttgaatgttcttgcatgtttggtacctctctcc       c.*5580

          .         .         .         .         .         .       g.489572
 tcactgctaaagataaattgtttatctgtataacataactacaccaatgtcatttttgta       c.*5640

          .         .         .         .         .         .       g.489632
 tacgctagtacacaaatgtgtttttttattaagtaatgaagtatttgctgtgaaaaatgt       c.*5700

          .         .         .         .         .         .       g.489692
 attatttgtgccaccgtttatatctgtgttcattttctgtgtgtatatgcgtgtgtattc       c.*5760

          .         .         .         .         .         .       g.489752
 gaatctcaatttttcttttactctagtttagattaagacatatttagatgaaattttaaa       c.*5820

          .         .         .         .         .         .       g.489812
 aataacattggaaataggaggctaagttttgttgagtctcattcccttggggggaaattg       c.*5880

          .         .         .         .         .         .       g.489872
 cttttgccattttattttcatgtacaataacctaaaaaggatctcctactgacttccttc       c.*5940

          .         .         .         .         .         .       g.489932
 ctaattattattgttttacacgaaagaaaggaaatacgttttcaattgagttgtttgaaa       c.*6000

          .         .         .         .         .         .       g.489992
 tcattcactttgtgtagatttcccagactgatgtttcattgtaagaatattacattatag       c.*6060

          .         .         .         .         .         .       g.490052
 acaggttggccatttcacaagcaactaatccatagttttggaagcccgctttaagagacc       c.*6120

          .         .         .                                     g.490090
 tgaatatctttgtttttaataaaatacttagagtttaa                             c.*6158

 (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 Phosphodiesterase 11A 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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