ankyrin repeat domain 11 (ANKRD11) - coding DNA reference sequence

(used for variant description)

(last modified May 29, 2014)


This file was created to facilitate the description of sequence variants on transcript NM_013275.5 in the ANKRD11 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000016.9, covering ANKRD11 transcript NM_013275.5.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5041
                    agaggccgccctgagacggtgcgcgatggaccgagggcccc       c.-421

 .         .         .         .         .         .                g.5101
 agccggggaggcgccgccgccgagcccgcggccagacgccccatcagtagcgtccgcacc       c.-361

 .         .         .         .         .         .                g.5161
 gggagccgcggctctcgcccgagccgtgggcgcgcccgaggggcgggctcgcctcccgcc       c.-301

 .         .         .         .         .         .                g.5221
 gtccctcgcagctctgccgggcccgagcccgcgccgccgccgccgccgccttgccgctcg       c.-241

 .         .         .         .         .         .                g.5281
 ggccgcgcggcccgggaaacgcggccgcgggctgcatgggcagcgcccgcgccccgccgc       c.-181

 .         .         .         .      | 02  .         .             g.77217
 tgagccgtcgcggagccgcgcagccctcggagcacg | aatatatacagccctgctctggga    c.-121

 .         .         .         .         .         .                g.77277
 cacacctccattggatttaaaagacagtcctcgtcagcactgactttcagctatggaatc       c.-61

 . | 03       .         .         .         .         .             g.178542
 g | cagacggttgatgatgaagcgccggccgtgtaaatgaagatcgggtgaggagcaggacg    c.-1

          .         .         .         .         .         .       g.178602
 ATGCCCAAGGGTGGGTGCCCTAAAGCACCACAGCAGGAAGAGCTTCCCCTCAGCAGCGAC       c.60
 M  P  K  G  G  C  P  K  A  P  Q  Q  E  E  L  P  L  S  S  D         p.20

          .         .        | 04.         .         .         .    g.190250
 ATGGTGGAGAAGCAGACTGGGAAAAAG | GATAAAGATAAAGTTTCTCTAACCAAGACCCCA    c.120
 M  V  E  K  Q  T  G  K  K   | D  K  D  K  V  S  L  T  K  T  P      p.40

          .         .         .         .         .         .       g.190310
 AAACTGGAGCGTGGCGATGGCGGGAAGGAGGTGAGGGAGCGAGCCAGCAAGCGGAAGCTG       c.180
 K  L  E  R  G  D  G  G  K  E  V  R  E  R  A  S  K  R  K  L         p.60

          .         .         .         .       | 05 .         .    g.204392
 CCCTTCACCGCGGGCGCCAATGGGGAGCAGAAGGACTCGGACACAG | AGAAGCAGGGCCCT    c.240
 P  F  T  A  G  A  N  G  E  Q  K  D  S  D  T  E |   K  Q  G  P      p.80

          .         .         .         .         .         .       g.204452
 GAGCGGAAGAGGATTAAGAAGGAGCCTGTCACCCGGAAGGCCGGGCTGCTGTTTGGCATG       c.300
 E  R  K  R  I  K  K  E  P  V  T  R  K  A  G  L  L  F  G  M         p.100

          .         .         .         .         .         .       g.204512
 GGGCTGTCTGGAATCCGAGCCGGCTACCCCCTCTCCGAGCGCCAGCAGGTGGCCCTTCTC       c.360
 G  L  S  G  I  R  A  G  Y  P  L  S  E  R  Q  Q  V  A  L  L         p.120

          .         .         .        | 06.         .         .    g.204756
 ATGCAGATGACGGCCGAGGAGTCTGCCAACAGCCCAG | TGGACACAACACCAAAGCACCCC    c.420
 M  Q  M  T  A  E  E  S  A  N  S  P  V |   D  T  T  P  K  H  P      p.140

          .         .         .         .         .         .       g.204816
 TCCCAGTCTACAGTGTGTCAGAAGGGAACGCCCAACTCTGCCTCAAAAACCAAAGATAAA       c.480
 S  Q  S  T  V  C  Q  K  G  T  P  N  S  A  S  K  T  K  D  K         p.160

          .         .         .         .         .         .       g.204876
 GTGAACAAGAGAAACGAGCGTGGAGAGACCCGCCTGCACCGAGCCGCCATCCGCGGGGAC       c.540
 V  N  K  R  N  E  R  G  E  T  R  L  H  R  A  A  I  R  G  D         p.180

          .         .         .         .         .         .       g.204936
 GCCCGGCGCATCAAAGAGCTCATCAGCGAGGGGGCAGACGTCAACGTCAAGGACTTCGCA       c.600
 A  R  R  I  K  E  L  I  S  E  G  A  D  V  N  V  K  D  F  A         p.200

   | 07      .         .         .         .         .         .    g.206950
 G | GCTGGACGGCGCTGCACGAGGCCTGTAACCGGGGCTACTACGACGTCGCGAAGCAGCTG    c.660
 G |   W  T  A  L  H  E  A  C  N  R  G  Y  Y  D  V  A  K  Q  L      p.220

          .         .         .         .         .         .       g.207010
 CTGGCTGCAGGTGCGGAGGTGAACACCAAGGGCCTAGATGACGACACGCCTTTGCACGAC       c.720
 L  A  A  G  A  E  V  N  T  K  G  L  D  D  D  T  P  L  H  D         p.240

          .         .     | 08   .         .         .         .    g.209411
 GCTGCCAACAACGGGCACTACAAG | GTGGTGAAGCTGCTGCTGCGGTACGGAGGGAACCCG    c.780
 A  A  N  N  G  H  Y  K   | V  V  K  L  L  L  R  Y  G  G  N  P      p.260

          .         .         .         .         .         .       g.209471
 CAGCAGAGCAACAGGAAAGGCGAGACGCCGCTGAAAGTGGCCAACTCCCCCACGATGGTG       c.840
 Q  Q  S  N  R  K  G  E  T  P  L  K  V  A  N  S  P  T  M  V         p.280

          .         .         .         .         .   | 09     .    g.209920
 AACCTCCTGTTAGGCAAAGGCACTTACACTTCCAGCGAGGAGAGCTCGACGG | AGAGCTCA    c.900
 N  L  L  L  G  K  G  T  Y  T  S  S  E  E  S  S  T  E |   S  S      p.300

          .         .         .         .         .         .       g.209980
 GAAGAGGAAGACGCACCATCCTTCGCACCTTCCAGTTCAGTCGACGGCAACAACACGGAC       c.960
 E  E  E  D  A  P  S  F  A  P  S  S  S  V  D  G  N  N  T  D         p.320

          .         .         .         .         .         .       g.210040
 TCCGAGTTCGAAAAAGGCCTCAAGCACAAGGCCAAGAACCCAGAGCCACAGAAGGCCACG       c.1020
 S  E  F  E  K  G  L  K  H  K  A  K  N  P  E  P  Q  K  A  T         p.340

          .         .         .         .         .         .       g.210100
 GCCCCCGTCAAGGACGAGTATGAGTTTGATGAGGACGACGAGCAGGACAGGGTTCCTCCG       c.1080
 A  P  V  K  D  E  Y  E  F  D  E  D  D  E  Q  D  R  V  P  P         p.360

          .         .         .         .         .         .       g.210160
 GTGGACGACAAGCACCTATTGAAAAAGGACTACAGAAAAGAAACGAAATCCAATAGTTTT       c.1140
 V  D  D  K  H  L  L  K  K  D  Y  R  K  E  T  K  S  N  S  F         p.380

          .         .         .         .         .         .       g.210220
 ATCTCTATACCCAAAATGGAGGTTAAAAGTTACACTAAAAATAACACGATTGCACCAAAG       c.1200
 I  S  I  P  K  M  E  V  K  S  Y  T  K  N  N  T  I  A  P  K         p.400

          .         .         .         .         .         .       g.210280
 AAAGCGTCCCATCGTATCCTGTCAGACACGTCGGACGAGGAGGACGCGAGTGTCACCGTG       c.1260
 K  A  S  H  R  I  L  S  D  T  S  D  E  E  D  A  S  V  T  V         p.420

          .         .         .         .         .         .       g.210340
 GGGACAGGAGAGAAGCTGAGACTCTCGGCACATACGATATTGCCTGGTAGTAAGACACGA       c.1320
 G  T  G  E  K  L  R  L  S  A  H  T  I  L  P  G  S  K  T  R         p.440

          .         .         .         .         .         .       g.210400
 GAGCCTTCTAATGCCAAGCAGCAGAAGGAAAAAAATAAAGTGAAAAAGAAGCGAAAGAAA       c.1380
 E  P  S  N  A  K  Q  Q  K  E  K  N  K  V  K  K  K  R  K  K         p.460

          .         .         .         .         .         .       g.210460
 GAAACAAAAGGCAGAGAGGTTCGCTTCGGAAAGCGGAGCGACAAGTTCTGCTCCTCGGAG       c.1440
 E  T  K  G  R  E  V  R  F  G  K  R  S  D  K  F  C  S  S  E         p.480

          .         .         .         .         .         .       g.210520
 TCGGAGAGCGAGTCCTCAGAGAGTGGGGAGGATGACAGGGACTCTCTGGGGAGCTCTGGC       c.1500
 S  E  S  E  S  S  E  S  G  E  D  D  R  D  S  L  G  S  S  G         p.500

          .         .         .         .         .         .       g.210580
 TGCCTCAAGGGGTCCCCGCTGGTGCTGAAGGACCCCTCCCTGTTCAGCTCCCTCTCTGCC       c.1560
 C  L  K  G  S  P  L  V  L  K  D  P  S  L  F  S  S  L  S  A         p.520

          .         .         .         .         .         .       g.210640
 TCCTCCACCTCGTCTCACGGGAGCTCTGCCGCCCAGAAGCAGAACCCCAGCCACACAGAC       c.1620
 S  S  T  S  S  H  G  S  S  A  A  Q  K  Q  N  P  S  H  T  D         p.540

          .         .         .         .         .         .       g.210700
 CAGCACACCAAGCACTGGCGGACAGACAATTGGAAAACCATTTCTTCCCCGGCTTGGTCA       c.1680
 Q  H  T  K  H  W  R  T  D  N  W  K  T  I  S  S  P  A  W  S         p.560

          .         .         .         .         .         .       g.210760
 GAGGTCAGTTCTTTATCAGACTCCACAAGGACGAGACTGACAAGCGAGTCTGACTACTCC       c.1740
 E  V  S  S  L  S  D  S  T  R  T  R  L  T  S  E  S  D  Y  S         p.580

          .         .         .         .         .         .       g.210820
 TCTGAGGGCTCCAGTGTGGAATCGCTGAAGCCAGTGAGGAAGAGGCAGGAGCACAGGAAG       c.1800
 S  E  G  S  S  V  E  S  L  K  P  V  R  K  R  Q  E  H  R  K         p.600

          .         .         .         .         .         .       g.210880
 CGAGCCTCCCTGTCGGAGAAGAAGAGCCCCTTCCTGTCCAGCGCGGAGGGCGCTGTCCCC       c.1860
 R  A  S  L  S  E  K  K  S  P  F  L  S  S  A  E  G  A  V  P         p.620

          .         .         .         .         .         .       g.210940
 AAACTGGACAAGGAGGGGAAAGTTGTCAAAAAACATAAAACAAAACACAAACACAAAAAC       c.1920
 K  L  D  K  E  G  K  V  V  K  K  H  K  T  K  H  K  H  K  N         p.640

          .         .         .         .         .         .       g.211000
 AAGGAGAAGGGACAGTGTTCCATCAGCCAAGAGCTGAAGTTGAAAAGTTTTACTTACGAA       c.1980
 K  E  K  G  Q  C  S  I  S  Q  E  L  K  L  K  S  F  T  Y  E         p.660

          .         .         .         .         .         .       g.211060
 TATGAGGACTCCAAGCAGAAGTCAGATAAGGCTATACTGTTAGAGAATGATCTTTCCACT       c.2040
 Y  E  D  S  K  Q  K  S  D  K  A  I  L  L  E  N  D  L  S  T         p.680

          .         .         .         .         .         .       g.211120
 GAAAACAAGCTAAAAGTGTTAAAGCACGATCGCGACCACTTTAAAAAAGAAGAGAAACTT       c.2100
 E  N  K  L  K  V  L  K  H  D  R  D  H  F  K  K  E  E  K  L         p.700

          .         .         .         .         .         .       g.211180
 AGCAAAATGAAATTAGAAGAAAAAGAATGGCTCTTTAAAGATGAAAAATCACTGAAGAGA       c.2160
 S  K  M  K  L  E  E  K  E  W  L  F  K  D  E  K  S  L  K  R         p.720

          .         .         .         .         .         .       g.211240
 ATCAAAGACACAAACAAAGACATCAGCAGGTCTTTCCGAGAAGAGAAAGACCGTTCGAAT       c.2220
 I  K  D  T  N  K  D  I  S  R  S  F  R  E  E  K  D  R  S  N         p.740

          .         .         .         .         .         .       g.211300
 AAAGCAGAAAAGGAGAGATCGCTGAAGGAAAAGTCTCCGAAAGAAGAAAAACTGAGACTG       c.2280
 K  A  E  K  E  R  S  L  K  E  K  S  P  K  E  E  K  L  R  L         p.760

          .         .         .         .         .         .       g.211360
 TACAAAGAGGAGAGAAAGAAGAAATCAAAAGACCGGCCCTCAAAATTAGAGAAGAAGAAT       c.2340
 Y  K  E  E  R  K  K  K  S  K  D  R  P  S  K  L  E  K  K  N         p.780

          .         .         .         .         .         .       g.211420
 GATTTAAAAGAGGACAAAATTTCAAAAGAGAAGGAGAAGATTTTTAAAGAAGATAAAGAA       c.2400
 D  L  K  E  D  K  I  S  K  E  K  E  K  I  F  K  E  D  K  E         p.800

          .         .         .         .         .         .       g.211480
 AAACTCAAAAAAGAAAAGGTTTATAGGGAAGATTCTGCTTTTGACGAATATTGTAACAAA       c.2460
 K  L  K  K  E  K  V  Y  R  E  D  S  A  F  D  E  Y  C  N  K         p.820

          .         .         .         .         .         .       g.211540
 AATCAGTTTCTGGAGAATGAAGACACCAAATTTAGCCTTTCTGACGATCAGCGAGATCGG       c.2520
 N  Q  F  L  E  N  E  D  T  K  F  S  L  S  D  D  Q  R  D  R         p.840

          .         .         .         .         .         .       g.211600
 TGGTTTTCTGACTTGTCCGATTCATCCTTTGATTTCAAAGGGGAGGACAGCTGGGACTCG       c.2580
 W  F  S  D  L  S  D  S  S  F  D  F  K  G  E  D  S  W  D  S         p.860

          .         .         .         .         .         .       g.211660
 CCAGTGACAGACTACAGGGACATGAAGAGCGACTCTGTGGCCAAGCTCATCTTGGAGACG       c.2640
 P  V  T  D  Y  R  D  M  K  S  D  S  V  A  K  L  I  L  E  T         p.880

          .         .         .         .         .         .       g.211720
 GTGAAGGAGGACAGCAAGGAGAGGAGGCGGGACAGCCGGGCCCGGGAGAAGCGAGACTAC       c.2700
 V  K  E  D  S  K  E  R  R  R  D  S  R  A  R  E  K  R  D  Y         p.900

          .         .         .         .         .         .       g.211780
 AGAGAGCCCTTCTTCCGAAAGAAGGACAGGGACTATTTGGATAAAAACTCTGAGAAGAGG       c.2760
 R  E  P  F  F  R  K  K  D  R  D  Y  L  D  K  N  S  E  K  R         p.920

          .         .         .         .         .         .       g.211840
 AAAGAGCAGACCGAAAAGCATAAAAGTGTCCCTGGCTACCTTTCGGAAAAGGACAAGAAG       c.2820
 K  E  Q  T  E  K  H  K  S  V  P  G  Y  L  S  E  K  D  K  K         p.940

          .         .         .         .         .         .       g.211900
 AGGAGAGAGTCCGCAGAGGCCGGGCGGGACAGAAAGGACGCCCTGGAGAGCTGCAAGGAG       c.2880
 R  R  E  S  A  E  A  G  R  D  R  K  D  A  L  E  S  C  K  E         p.960

          .         .         .         .         .         .       g.211960
 CGCAGGGACGGCAGGGCCAAGCCCGAGGAGGCGCACCGGGAGGAGCTGAAGGAGTGTGGC       c.2940
 R  R  D  G  R  A  K  P  E  E  A  H  R  E  E  L  K  E  C  G         p.980

          .         .         .         .         .         .       g.212020
 TGCGAGAGTGGCTTCAAGGACAAGTCCGACGGCGACTTTGGGAAGGGCCTGGAGCCGTGG       c.3000
 C  E  S  G  F  K  D  K  S  D  G  D  F  G  K  G  L  E  P  W         p.1000

          .         .         .         .         .         .       g.212080
 GAACGGCACCACCCAGCACGAGAGAAGGAGAAGAAGGATGGCCCCGATAAGGAAAGGAAG       c.3060
 E  R  H  H  P  A  R  E  K  E  K  K  D  G  P  D  K  E  R  K         p.1020

          .         .         .         .         .         .       g.212140
 GAGAAGACAAAACCAGAAAGATACAAAGAGAAATCCAGTGACAAGGACAAAAGTGAGAAA       c.3120
 E  K  T  K  P  E  R  Y  K  E  K  S  S  D  K  D  K  S  E  K         p.1040

          .         .         .         .         .         .       g.212200
 TCAATCCTGGAAAAATGTCAGAAGGACAAAGAATTTGATAAATGTTTTAAAGAGAAAAAA       c.3180
 S  I  L  E  K  C  Q  K  D  K  E  F  D  K  C  F  K  E  K  K         p.1060

          .         .         .         .         .         .       g.212260
 GATACCAAGGAAAAACATAAAGACACACATGGCAAAGACAAAGAAAGGAAAGCGTCTCTC       c.3240
 D  T  K  E  K  H  K  D  T  H  G  K  D  K  E  R  K  A  S  L         p.1080

          .         .         .         .         .         .       g.212320
 GACCAAGGGAAAGAGAAGAAGGAGAAGGCTTTCCCTGGGATCATCTCAGAAGACTTCTCT       c.3300
 D  Q  G  K  E  K  K  E  K  A  F  P  G  I  I  S  E  D  F  S         p.1100

          .         .         .         .         .         .       g.212380
 GAAAAAAAAGATGACAAGAAAGGCAAAGAGAAAAGCTGGTACATCGCAGACATCTTCACA       c.3360
 E  K  K  D  D  K  K  G  K  E  K  S  W  Y  I  A  D  I  F  T         p.1120

          .         .         .         .         .         .       g.212440
 GATGAGAGTGAGGACGACAGAGACAGCTGCATGGGGAGCGGGTTCAAGATGGGAGAGGCC       c.3420
 D  E  S  E  D  D  R  D  S  C  M  G  S  G  F  K  M  G  E  A         p.1140

          .         .         .         .         .         .       g.212500
 AGCGACTTGCCGAGGACGGACGGCCTCCAGGAGAAGGAGGAAGGACGGGAGGCCTATGCC       c.3480
 S  D  L  P  R  T  D  G  L  Q  E  K  E  E  G  R  E  A  Y  A         p.1160

          .         .         .         .         .         .       g.212560
 TCCGACAGACACAGGAAGTCTTCTGACAAGCAGCACCCTGAGAGGCAGAAGGACAAGGAG       c.3540
 S  D  R  H  R  K  S  S  D  K  Q  H  P  E  R  Q  K  D  K  E         p.1180

          .         .         .         .         .         .       g.212620
 CCCAGAGACAGGAGAAAGGACCGAGGGGCTGCCGACGCGGGGAGAGACAAAAAAGAGAAA       c.3600
 P  R  D  R  R  K  D  R  G  A  A  D  A  G  R  D  K  K  E  K         p.1200

          .         .         .         .         .         .       g.212680
 GTCTTTGAAAAGCACAAGGAGAAGAAGGATAAAGAGTCCACAGAAAAGTACAAGGACAGG       c.3660
 V  F  E  K  H  K  E  K  K  D  K  E  S  T  E  K  Y  K  D  R         p.1220

          .         .         .         .         .         .       g.212740
 AAGGACAGAGCCTCAGTGGACTCCACGCAAGATAAGAAAAATAAACAGAAGCTCCCCGAG       c.3720
 K  D  R  A  S  V  D  S  T  Q  D  K  K  N  K  Q  K  L  P  E         p.1240

          .         .         .         .         .         .       g.212800
 AAGGCTGAAAAGAAGCACGCTGCCGAAGACAAGGCTAAAAGCAAACACAAAGAGAAGTCG       c.3780
 K  A  E  K  K  H  A  A  E  D  K  A  K  S  K  H  K  E  K  S         p.1260

          .         .         .         .         .         .       g.212860
 GACAAAGAACATTCCAAGGAGAGGAAGTCCTCGAGAAGTGCCGACGCGGAAAAAAGCCTG       c.3840
 D  K  E  H  S  K  E  R  K  S  S  R  S  A  D  A  E  K  S  L         p.1280

          .         .         .         .         .         .       g.212920
 CTTGAAAAGTTGGAAGAAGAGGCTCTCCATGAGTACAGAGAAGACTCCAACGATAAAATC       c.3900
 L  E  K  L  E  E  E  A  L  H  E  Y  R  E  D  S  N  D  K  I         p.1300

          .         .         .         .         .         .       g.212980
 AGCGAGGTCTCCTCTGACAGCTTCACGGACCGAGGGCAGGAGCCGGGGCTGACTGCCTTC       c.3960
 S  E  V  S  S  D  S  F  T  D  R  G  Q  E  P  G  L  T  A  F         p.1320

          .         .         .         .         .         .       g.213040
 CTGGAGGTCTCTTTCACGGAGCCACCTGGAGACGACAAGCCGAGGGAGAGCGCCTGCCTC       c.4020
 L  E  V  S  F  T  E  P  P  G  D  D  K  P  R  E  S  A  C  L         p.1340

          .         .         .         .         .         .       g.213100
 CCTGAGAAGCTGAAAGAGAAGGAGAGGCACAGACACTCCTCATCTTCATCCAAGAAGAGC       c.4080
 P  E  K  L  K  E  K  E  R  H  R  H  S  S  S  S  S  K  K  S         p.1360

          .         .         .         .         .         .       g.213160
 CACGACCGAGAGCGAGCCAAGAAAGAGAAGGCCGAGAAGAAAGAGAAGGGCGAAGATTAC       c.4140
 H  D  R  E  R  A  K  K  E  K  A  E  K  K  E  K  G  E  D  Y         p.1380

          .         .         .         .         .         .       g.213220
 AAGGAGGGCGGTAGCAGGAAGGACTCCGGCCAGTACGAAAAGGACTTCCTGGAGGCGGAT       c.4200
 K  E  G  G  S  R  K  D  S  G  Q  Y  E  K  D  F  L  E  A  D         p.1400

          .         .         .         .         .         .       g.213280
 GCTTACGGAGTTTCTTACAACATGAAAGCTGACATAGAAGATGAGCTAGATAAAACCATT       c.4260
 A  Y  G  V  S  Y  N  M  K  A  D  I  E  D  E  L  D  K  T  I         p.1420

          .         .         .         .         .         .       g.213340
 GAATTGTTTTCTACCGAAAAGAAAGATAAAAATGATTCCGAGAGAGAACCTTCCAAGAAA       c.4320
 E  L  F  S  T  E  K  K  D  K  N  D  S  E  R  E  P  S  K  K         p.1440

          .         .         .         .         .         .       g.213400
 ATAGAAAAGGAACTAAAGCCTTATGGATCTAGTGCCATCAACATCCTAAAAGAGAAGAAG       c.4380
 I  E  K  E  L  K  P  Y  G  S  S  A  I  N  I  L  K  E  K  K         p.1460

          .         .         .         .         .         .       g.213460
 AAGAGAGAGAAACACAGGGAGAAATGGAGAGACGAGAAGGAGAGGCACCGGGACAGGCAT       c.4440
 K  R  E  K  H  R  E  K  W  R  D  E  K  E  R  H  R  D  R  H         p.1480

          .         .         .         .         .         .       g.213520
 GCGGATGGGCTGCTGCGGCATCACAGGGACGAGCTCCTGCGGCATCACAGGGACGAGCAG       c.4500
 A  D  G  L  L  R  H  H  R  D  E  L  L  R  H  H  R  D  E  Q         p.1500

          .         .         .         .         .         .       g.213580
 AAGCCCGCCACCAGGGACAAGGACAGCCCGCCCCGCGTGCTCAAAGACAAGTCCAGGGAC       c.4560
 K  P  A  T  R  D  K  D  S  P  P  R  V  L  K  D  K  S  R  D         p.1520

          .         .         .         .         .         .       g.213640
 GAGGGCCCGAGGCTCGGCGATGCCAAACTGAAGGAGAAATTCAAGGACGGTGCAGAGAAA       c.4620
 E  G  P  R  L  G  D  A  K  L  K  E  K  F  K  D  G  A  E  K         p.1540

          .         .         .         .         .         .       g.213700
 GAAAAGGGCGACCCAGTGAAGATGAGCAACGGGAATGATAAGGTAGCGCCATCCAAAGAC       c.4680
 E  K  G  D  P  V  K  M  S  N  G  N  D  K  V  A  P  S  K  D         p.1560

          .         .         .         .         .         .       g.213760
 CCAGGCAAGAAAGACGCCAGGCCCAGGGAGAAGCTCCTGGGGGACGGCGACCTGATGATG       c.4740
 P  G  K  K  D  A  R  P  R  E  K  L  L  G  D  G  D  L  M  M         p.1580

          .         .         .         .         .         .       g.213820
 ACCAGCTTCGAGAGGATGCTGTCCCAGAAGGACCTGGAGATCGAGGAGCGCCACAAGCGG       c.4800
 T  S  F  E  R  M  L  S  Q  K  D  L  E  I  E  E  R  H  K  R         p.1600

          .         .         .         .         .         .       g.213880
 CACAAGGAGAGGATGAAGCAAATGGAGAAGCTGAGGCACCGGTCCGGAGACCCCAAGCTC       c.4860
 H  K  E  R  M  K  Q  M  E  K  L  R  H  R  S  G  D  P  K  L         p.1620

          .         .         .         .         .         .       g.213940
 AAGGAGAAGGCGAAGCCGGCAGACGACGGGCGGAAGAAGGGTCTGGACATTCCTGCTAAG       c.4920
 K  E  K  A  K  P  A  D  D  G  R  K  K  G  L  D  I  P  A  K         p.1640

          .         .         .         .         .         .       g.214000
 AAACCGCCGGGGCTGGACCCTCCATTTAAAGACAAAAAGCTCAAAGAGTCGACTCCTATT       c.4980
 K  P  P  G  L  D  P  P  F  K  D  K  K  L  K  E  S  T  P  I         p.1660

          .         .         .         .         .         .       g.214060
 CCACCTGCCGCGGAAAATAAGCTACACCCAGCATCAGGTGCAGACTCCAAAGACTGGCTG       c.5040
 P  P  A  A  E  N  K  L  H  P  A  S  G  A  D  S  K  D  W  L         p.1680

          .         .         .         .         .         .       g.214120
 GCAGGCCCTCACATGAAAGAGGTCCTGCCTGCGTCCCCCAGGCCTGACCAGAGCCGGCCC       c.5100
 A  G  P  H  M  K  E  V  L  P  A  S  P  R  P  D  Q  S  R  P         p.1700

          .         .         .         .         .         .       g.214180
 ACTGGCGTGCCCACCCCTACGTCGGTGCTATCCTGCCCCAGCTACGAGGAGGTGATGCAC       c.5160
 T  G  V  P  T  P  T  S  V  L  S  C  P  S  Y  E  E  V  M  H         p.1720

          .         .         .         .         .         .       g.214240
 ACGCCCAGGACCCCGTCCTGCAGCGCCGATGACTACGCGGACCTCGTGTTCGACTGCGCC       c.5220
 T  P  R  T  P  S  C  S  A  D  D  Y  A  D  L  V  F  D  C  A         p.1740

          .         .         .         .         .         .       g.214300
 GACTCGCAGCACTCCACGCCCGTGCCCACCGCTCCCACCAGCGCCTGCTCCCCCTCCTTT       c.5280
 D  S  Q  H  S  T  P  V  P  T  A  P  T  S  A  C  S  P  S  F         p.1760

          .         .         .         .         .         .       g.214360
 TTCGACAGGTTCTCCGTGGCTTCAAGTGGGCTTTCGGAAAACGCCAGCCAGGCTCCTGCC       c.5340
 F  D  R  F  S  V  A  S  S  G  L  S  E  N  A  S  Q  A  P  A         p.1780

          .         .         .         .         .         .       g.214420
 AGGCCTCTCTCCACAAACCTTTACCGCTCGGTCTCTGTCGACATTAGGAGGACCCCCGAG       c.5400
 R  P  L  S  T  N  L  Y  R  S  V  S  V  D  I  R  R  T  P  E         p.1800

          .         .         .         .         .         .       g.214480
 GAAGAATTCAGCGTCGGAGACAAGCTCTTCAGGCAGCAGAGCGTTCCTGCTGCCTCCAGC       c.5460
 E  E  F  S  V  G  D  K  L  F  R  Q  Q  S  V  P  A  A  S  S         p.1820

          .         .         .         .         .         .       g.214540
 TACGACTCTCCCATGCCACCCTCGATGGAAGACAGGGCGCCCCTGCCCCCGGTTCCCGCG       c.5520
 Y  D  S  P  M  P  P  S  M  E  D  R  A  P  L  P  P  V  P  A         p.1840

          .         .         .         .         .         .       g.214600
 GAGAAGTTTGCCTGCTTGTCGCCAGGGTACTACTCCCCAGACTATGGCCTCCCGTCGCCC       c.5580
 E  K  F  A  C  L  S  P  G  Y  Y  S  P  D  Y  G  L  P  S  P         p.1860

          .         .         .         .         .         .       g.214660
 AAAGTCGACGCTTTGCACTGCCCACCGGCTGCCGTTGTCACTGTCACCCCGTCTCCAGAG       c.5640
 K  V  D  A  L  H  C  P  P  A  A  V  V  T  V  T  P  S  P  E         p.1880

          .         .         .         .         .         .       g.214720
 GGCGTCTTCTCAAGTTTACAAGCAAAACCTTCCCCTTCCCCCAGAGCCGAGCTGCTGGTT       c.5700
 G  V  F  S  S  L  Q  A  K  P  S  P  S  P  R  A  E  L  L  V         p.1900

          .         .         .         .         .         .       g.214780
 CCTTCCCTCGAAGGGGCCCTTCCCCCGGACCTGGACACCTCCGAGGACCAGCAGGCGACG       c.5760
 P  S  L  E  G  A  L  P  P  D  L  D  T  S  E  D  Q  Q  A  T         p.1920

          .         .         .         .         .         .       g.214840
 GCCGCCATCATCCCCCCGGAGCCCAGCTACCTGGAGCCGCTGGACGAGGGTCCCTTCAGC       c.5820
 A  A  I  I  P  P  E  P  S  Y  L  E  P  L  D  E  G  P  F  S         p.1940

          .         .         .         .         .         .       g.214900
 GCCGTCATCACCGAGGAGCCCGTTGAGTGGGCCCACCCCTCCGAGCAGGCGCTTGCCTCT       c.5880
 A  V  I  T  E  E  P  V  E  W  A  H  P  S  E  Q  A  L  A  S         p.1960

          .         .         .         .         .         .       g.214960
 AGCCTGATCGGGGGCACCTCTGAAAACCCTGTGAGCTGGCCTGTGGGCTCGGACCTCCTG       c.5940
 S  L  I  G  G  T  S  E  N  P  V  S  W  P  V  G  S  D  L  L         p.1980

          .         .         .         .         .         .       g.215020
 CTGAAGTCTCCACAGAGATTCCCCGAGTCCCCAAAGCGTTTCTGCCCCGCGGACCCCCTC       c.6000
 L  K  S  P  Q  R  F  P  E  S  P  K  R  F  C  P  A  D  P  L         p.2000

          .         .         .         .         .         .       g.215080
 CACTCTGCCGCCCCAGGGCCCTTCAGCGCCTCGGAGGCGCCGTACCCCGCCCCTCCCGCC       c.6060
 H  S  A  A  P  G  P  F  S  A  S  E  A  P  Y  P  A  P  P  A         p.2020

          .         .         .         .         .         .       g.215140
 TCTCCTGCCCCGTACGCTCTGCCCGTCGCTGAGCCGGGGCTGGAGGACGTCAAGGACGGA       c.6120
 S  P  A  P  Y  A  L  P  V  A  E  P  G  L  E  D  V  K  D  G         p.2040

          .         .         .         .         .         .       g.215200
 GTGGACGCCGTCCCCGCCGCCATCTCCACCTCAGAGGCGGCTCCCTACGCCCCTCCCTCC       c.6180
 V  D  A  V  P  A  A  I  S  T  S  E  A  A  P  Y  A  P  P  S         p.2060

          .         .         .         .         .         .       g.215260
 GGGCTGGAGTCCTTCTTCAGCAACTGCAAGTCACTTCCGGAAGCCCCGCTGGACGTGGCC       c.6240
 G  L  E  S  F  F  S  N  C  K  S  L  P  E  A  P  L  D  V  A         p.2080

          .         .         .         .         .         .       g.215320
 CCCGAGCCCGCCTGTGTAGCCGCTGTGGCTCAGGTGGAGGCTCTGGGGCCCCTGGAAAAT       c.6300
 P  E  P  A  C  V  A  A  V  A  Q  V  E  A  L  G  P  L  E  N         p.2100

          .         .         .         .         .         .       g.215380
 AGCTTCCTGGACGGCAGCCGCGGCCTGTCTCACCTCGGCCAGGTGGAGCCGGTGCCCTGG       c.6360
 S  F  L  D  G  S  R  G  L  S  H  L  G  Q  V  E  P  V  P  W         p.2120

          .         .         .         .         .         .       g.215440
 GCGGACGCCTTCGCCGGCCCCGAGGACGACCTGGACCTGGGGCCCTTCTCCCTGCCGGAG       c.6420
 A  D  A  F  A  G  P  E  D  D  L  D  L  G  P  F  S  L  P  E         p.2140

          .         .         .         .         .         .       g.215500
 CTTCCCCTGCAGACTAAAGATGCCGCAGATGGTGAAGCGGAACCCGTGGAAGAAAGTCTT       c.6480
 L  P  L  Q  T  K  D  A  A  D  G  E  A  E  P  V  E  E  S  L         p.2160

          .         .         .         .         .         .       g.215560
 GCTCCTCCAGAAGAGATGCCTCCAGGGGCCCCCGGGGTCATAAACGGTGGGGATGTTTCC       c.6540
 A  P  P  E  E  M  P  P  G  A  P  G  V  I  N  G  G  D  V  S         p.2180

          .         .         .         .         .         .       g.215620
 ACCGTAGTGGCTGAGGAGCCGCCGGCACTGCCTCCTGACCAGGCCTCCACCCGGCTCCCT       c.6600
 T  V  V  A  E  E  P  P  A  L  P  P  D  Q  A  S  T  R  L  P         p.2200

          .         .         .         .         .         .       g.215680
 GCAGAGCTCGAGCCTGAGCCCTCAGGGGAGCCAAAGCTGGACGTGGCTCTAGAAGCTGCG       c.6660
 A  E  L  E  P  E  P  S  G  E  P  K  L  D  V  A  L  E  A  A         p.2220

          .         .         .         .         .         .       g.215740
 GTGGAGGCGGAGACGGTGCCGGAAGAGAGGGCCCGTGGGGATCCGGACTCCAGCGTGGAG       c.6720
 V  E  A  E  T  V  P  E  E  R  A  R  G  D  P  D  S  S  V  E         p.2240

          .         .         .         .         .         .       g.215800
 CCCGCGCCCGTTCCCCCAGAACAGCGCCCACTGGGGAGCGGAGACCAGGGGGCTGAGGCT       c.6780
 P  A  P  V  P  P  E  Q  R  P  L  G  S  G  D  Q  G  A  E  A         p.2260

          .         .         .         .         .         .       g.215860
 GAAGGCCCCCCCGCCGCGTCCCTCTGTGCCCCTGACGGCCCCGCCCCGAACACTGTGGCA       c.6840
 E  G  P  P  A  A  S  L  C  A  P  D  G  P  A  P  N  T  V  A         p.2280

          .         .         .         .         .         .       g.215920
 CAAGCTCAGGCCGCAGACGGTGCCGGCCCCGAGGACGACACTGAGGCCTCCCGTGCCGCC       c.6900
 Q  A  Q  A  A  D  G  A  G  P  E  D  D  T  E  A  S  R  A  A         p.2300

          .         .         .         .         .         .       g.215980
 GCCCCAGCCGAAGGCCCTCCTGGCGGCATCCAGCCGGAAGCCGCAGAACCAAAACCCACG       c.6960
 A  P  A  E  G  P  P  G  G  I  Q  P  E  A  A  E  P  K  P  T         p.2320

          .         .         .         .         .         .       g.216040
 GCCGAAGCCCCGAAGGCCCCCCGAGTGGAGGAGATCCCTCAGCGCATGACCAGGAACCGG       c.7020
 A  E  A  P  K  A  P  R  V  E  E  I  P  Q  R  M  T  R  N  R         p.2340

          .         .         .         .         .         .       g.216100
 GCGCAGATGCTCGCGAACCAGAGCAAGCAGGGCCCGCCCCCCTCCGAGAAGGAGTGCGCC       c.7080
 A  Q  M  L  A  N  Q  S  K  Q  G  P  P  P  S  E  K  E  C  A         p.2360

          .         .         .         .         .         .       g.216160
 CCCACCCCTGCCCCGGTCACCAGGGCCAAGGCCCGCGGCTCCGAGGACGACGACGCCCAG       c.7140
 P  T  P  A  P  V  T  R  A  K  A  R  G  S  E  D  D  D  A  Q         p.2380

          .         .         .         .         .         .       g.216220
 GCCCAGCATCCGCGCAAACGCCGCTTTCAGCGCTCCACCCAGCAGCTGCAGCAGCAGCTG       c.7200
 A  Q  H  P  R  K  R  R  F  Q  R  S  T  Q  Q  L  Q  Q  Q  L         p.2400

          .         .         .         .         .         .       g.216280
 AACACGTCCACGCAGCAGACGCGGGAGGTGATCCAGCAGACGCTGGCCGCCATCGTGGAC       c.7260
 N  T  S  T  Q  Q  T  R  E  V  I  Q  Q  T  L  A  A  I  V  D         p.2420

          .         .         .         .         .         .       g.216340
 GCCATCAAGCTGGATGCCATCGAGCCCTACCACAGCGACAGGGCCAACCCCTACTTCGAA       c.7320
 A  I  K  L  D  A  I  E  P  Y  H  S  D  R  A  N  P  Y  F  E         p.2440

          .         .         .         .         .         .       g.216400
 TACCTGCAGATCAGGAAGAAGATCGAGGAGAAGCGCAAGATCCTGTGCTGTATCACGCCG       c.7380
 Y  L  Q  I  R  K  K  I  E  E  K  R  K  I  L  C  C  I  T  P         p.2460

          .         .         .         .         .         .       g.216460
 CAGGCGCCCCAGTGCTACGCCGAGTACGTCACCTACACGGGCTCCTACCTCCTGGACGGC       c.7440
 Q  A  P  Q  C  Y  A  E  Y  V  T  Y  T  G  S  Y  L  L  D  G         p.2480

          .         .         . | 10       .         .         .    g.220400
 AAGCCGCTCAGCAAGCTCCACATCCCCGTG | ATCGCACCCCCTCCCTCCCTGGCGGAGCCC    c.7500
 K  P  L  S  K  L  H  I  P  V   | I  A  P  P  P  S  L  A  E  P      p.2500

          .         .         .         .         .         .       g.220460
 CTGAAGGAGCTGTTCAGGCAGCAGGAGGCCGTCCGGGGAAAGCTGCGTCTACAGCACAGC       c.7560
 L  K  E  L  F  R  Q  Q  E  A  V  R  G  K  L  R  L  Q  H  S         p.2520

           | 11        .         .         .         .         .    g.220655
 ATCGAGCGG | GAGAAGCTGATCGTATCCTGTGAGCAGGAGATTCTGCGGGTTCACTGCCGG    c.7620
 I  E  R   | E  K  L  I  V  S  C  E  Q  E  I  L  R  V  H  C  R      p.2540

          .         .         .         .         .         .       g.220715
 GCGGCCAGGACCATCGCCAACCAGGCAGTGCCATTCAGCGCCTGCACGATGCTGCTGGAC       c.7680
 A  A  R  T  I  A  N  Q  A  V  P  F  S  A  C  T  M  L  L  D         p.2560

          .         .         .    | 12    .         .         .    g.224679
 TCCGAGGTCTACAACATGCCCCTGGAGAGCCAG | GGTGACGAGAACAAGTCAGTGCGCGAC    c.7740
 S  E  V  Y  N  M  P  L  E  S  Q   | G  D  E  N  K  S  V  R  D      p.2580

          .         .         .         .         .         .       g.224739
 CGTTTCAACGCCCGCCAGTTCATCTCCTGGCTCCAGGACGTGGATGACAAGTATGACCGC       c.7800
 R  F  N  A  R  Q  F  I  S  W  L  Q  D  V  D  D  K  Y  D  R         p.2600

        | 13 .         .         .         .         .         .    g.226952
 ATGAAG | ACTTGCCTCCTCATGCGGCAGCAGCACGAGGCCGCGGCCCTGAACGCCGTGCAG    c.7860
 M  K   | T  C  L  L  M  R  Q  Q  H  E  A  A  A  L  N  A  V  Q      p.2620

          .         .         .         .         .         .       g.227012
 AGGATGGAGTGGCAGCTGAAGGTGCAGGAACTGGACCCCGCCGGGCACAAGTCCCTGTGC       c.7920
 R  M  E  W  Q  L  K  V  Q  E  L  D  P  A  G  H  K  S  L  C         p.2640

          .         .         .         .         .         .       g.227072
 GTGAACGAGGTGCCCTCCTTCTACGTGCCCATGGTCGACGTCAACGACGACTTTGTATTG       c.7980
 V  N  E  V  P  S  F  Y  V  P  M  V  D  V  N  D  D  F  V  L         p.2660

          .                                                         g.227084
 TTGCCGGCATGA                                                       c.7992
 L  P  A  X                                                         p.2663

          .         .         .         .         .         .       g.227144
 caccgcgggacggccgcaggacgcaggcgagggccgcacggctgcccaggactgctgctg       c.*60

          .         .         .         .         .         .       g.227204
 agccccaggggcggaggagggagcgccctgtccacccgggcggggagagaccccgagaga       c.*120

          .         .         .         .         .         .       g.227264
 gactgcacttggccacagcgcctccatcccttccagactggtccagacgtcggggaggtg       c.*180

          .         .         .         .         .         .       g.227324
 aaacacgtctcttctctaccagctgccgcggcgggggcaaagcccccagagcctcactgg       c.*240

          .         .         .         .         .         .       g.227384
 ccccggcgggatgaggagaccatgccgggcgcgcacacacggcagcttctgtttgaaaac       c.*300

          .         .         .         .         .         .       g.227444
 ggcgaccttcgggcccttttctccagcaactgcagaggcatttcaggagttggagaacgg       c.*360

          .         .         .         .         .         .       g.227504
 agtacatttttaaaattttttgttccattctgatcaactaaagaaaattaaggtgtccac       c.*420

          .         .         .         .         .         .       g.227564
 ctctcacaaacagtgacctgcaggtcggaggggcaggagccccatcccagccgtggttct       c.*480

          .         .         .         .         .         .       g.227624
 gttgccgccgagctgcgacggcctcagactgggcttcagacctggtgcggagccaggcgg       c.*540

          .         .         .         .         .         .       g.227684
 agggacacagagccaggactcccagccgtattgaaatggagtcaaatccgcgtggtttgt       c.*600

          .         .         .         .         .         .       g.227744
 atcttctttcctttaatcttgggcattttgtttctctttctgagaacgtaacttgaaaca       c.*660

          .         .         .         .         .         .       g.227804
 ctacagagccaataatcatataaaaagtgtatccgtaaacgctgtacagttttatatacc       c.*720

          .         .         .         .         .         .       g.227864
 ttcacaatgtacttttgctgccttctagataatttattttgcaacacattactgcacagt       c.*780

          .         .         .         .         .         .       g.227924
 tgtaaataacttatgtactgtaacatcactttcagttatgtgtaaagaaataaataaatt       c.*840

          .                                                         g.227941
 aattaaaatgctctttg                                                  c.*857

 (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 Ankyrin repeat domain 11 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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