alpha-kinase 3 (ALPK3) - coding DNA reference sequence

(used for variant description)

(last modified September 21, 2022)


This file was created to facilitate the description of sequence variants on transcript NM_020778.4 in the ALPK3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000015.9, covering ALPK3 transcript NM_020778.4.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5047
              gtatcaggactcagcccatttccccctctggtgctgagaaatggagg       c.-121

 .         .         .         .         .         .                g.5107
 ccgaaggagtgatctagaagtgttaattgagcccctaatctatgctagttactgggggtg       c.-61

 .         .         .         .         .         .                g.5167
 ttgggggagacaggagagagatcccacggggttccggcctcccagggactcaggtcacta       c.-1

          .         .         .         .         .         .       g.5227
 ATGGAGGTGGCTTGGCTTGTCTATGTGCTGGGCCAACAGCCACTGGCGAGGCAAGGCGAG       c.60
 M  E  V  A  W  L  V  Y  V  L  G  Q  Q  P  L  A  R  Q  G  E         p.20

          .         .         .         .         .         .       g.5287
 GGTCAGTCACGGCTGGTGCCAGGAAGAGGGCTGGTTCTTTGGCTCCCTGGTCTCCCGCGG       c.120
 G  Q  S  R  L  V  P  G  R  G  L  V  L  W  L  P  G  L  P  R         p.40

          .         .         .         .         .         .       g.5347
 TCTAGCCCAAGCTGGCCAGCGGTTGACCTGGCTCCCCTGGCCCCGGCCAGGCCTCGTGGA       c.180
 S  S  P  S  W  P  A  V  D  L  A  P  L  A  P  A  R  P  R  G         p.60

          .         .         .         .         .         .       g.5407
 CCCCTCATATGCCACACGGGACATGAGCAGGCCGGCCGGGAGCCGGGTCCCGGGAGCTCC       c.240
 P  L  I  C  H  T  G  H  E  Q  A  G  R  E  P  G  P  G  S  S         p.80

          .         .         .         .         .         .       g.5467
 ACGAAGGGGCCTGTCCTCCATGACCAGGACACCCGCTGCGCCTTCCTCCCGAGGCCTCCC       c.300
 T  K  G  P  V  L  H  D  Q  D  T  R  C  A  F  L  P  R  P  P         p.100

          .         .         .         .         .         .       g.5527
 GGGCCTCTCCAGACGCGGCGCTACTGCAGACACCAGGGCCGCCAAGGGAGCGGACTCGGA       c.360
 G  P  L  Q  T  R  R  Y  C  R  H  Q  G  R  Q  G  S  G  L  G         p.120

          .         .         .         .         .         .       g.5587
 GCCGGCCCTGGGGCGGGCACATGGGCCCCGGCGCCCCCCGGCGTCTCCAAGCCGCGCTGC       c.420
 A  G  P  G  A  G  T  W  A  P  A  P  P  G  V  S  K  P  R  C         p.140

          .         .         .         .         .         .       g.5647
 CCGGGTCGGGCCAGGCCAGGGGAGGGACAGCAGCAGGTGACGACGGCCCGGCCACCGGCT       c.480
 P  G  R  A  R  P  G  E  G  Q  Q  Q  V  T  T  A  R  P  P  A         p.160

          .         .         .         .         .         .       g.5707
 ATAAATAGGGGCGCGCGTCAGCCGCGGGCGGGAGCGGCGGCGGCGGGCAGGGGCCCGGGG       c.540
 I  N  R  G  A  R  Q  P  R  A  G  A  A  A  A  G  R  G  P  G         p.180

          .         .         .         .         .         .       g.5767
 GCCGGGGCCTGGAGGACAGGCGAGGCAGCGGCGAGTGCGGGGCCGGCGGTCGGGGAGGGC       c.600
 A  G  A  W  R  T  G  E  A  A  A  S  A  G  P  A  V  G  E  G         p.200

          .         .         .         .         .         .       g.5827
 GGTGCCATGGGGTCGCGGAGGGCCCCCAGCCGGGGCTGGGGCGCGGGTGGGCGGTCGGGG       c.660
 G  A  M  G  S  R  R  A  P  S  R  G  W  G  A  G  G  R  S  G         p.220

          .         .         .         .         .         .       g.5887
 GCGGGGGGCGACGGTGAGGACGACGGCCCCGTGTGGATCCCCAGCCCAGCCAGCCGGAGC       c.720
 A  G  G  D  G  E  D  D  G  P  V  W  I  P  S  P  A  S  R  S         p.240

          .         .          | 02        .         .         .    g.11681
 TACCTGCTCAGCGTGCGGCCCGAGACCAG | CTTATCAAGCAACCGGTTGTCTCACCCCAGC    c.780
 Y  L  L  S  V  R  P  E  T  S  |  L  S  S  N  R  L  S  H  P  S      p.260

          | 03         .         .         .         .         .    g.15856
 TCTGGAAG | GAGCACCTTCTGCTCCATCATTGCTCAGCTCACAGAGGAGACCCAGCCGCTA    c.840
 S  G  R  |  S  T  F  C  S  I  I  A  Q  L  T  E  E  T  Q  P  L      p.280

          .         .         .         .         .         .       g.15916
 TTTGAGACCACGCTCAAGTCCCGGTCTGTGTCCGAGGACAGCGACGTCAGGTTCACCTGC       c.900
 F  E  T  T  L  K  S  R  S  V  S  E  D  S  D  V  R  F  T  C         p.300

          . | 04       .         .         .         .         .    g.27350
 ATCGTCACAG | GATACCCAGAGCCAGAGGTGACCTGGTACAAGGATGATACGGAGCTGGAC    c.960
 I  V  T  G |   Y  P  E  P  E  V  T  W  Y  K  D  D  T  E  L  D      p.320

          .         .         .         .         .         .       g.27410
 CGCTACTGTGGCTTGCCAAAATATGAGATCACTCATCAGGGCAACCGCCACACACTGCAG       c.1020
 R  Y  C  G  L  P  K  Y  E  I  T  H  Q  G  N  R  H  T  L  Q         p.340

          | 05         .         .         .         .         .    g.28074
 CTGTACAG | GTGTCGAGAAGAAGATGCCGCCATCTACCAGGCCTCTGCCCAGAACAGCAAG    c.1080
 L  Y  R  |  C  R  E  E  D  A  A  I  Y  Q  A  S  A  Q  N  S  K      p.360

          .         .         .         .         .         .       g.28134
 GGCATTGTGTCCTGCTCAGGGGTCCTGGAGGTGGGCACCATGACTGAGTACAAGATCCAC       c.1140
 G  I  V  S  C  S  G  V  L  E  V  G  T  M  T  E  Y  K  I  H         p.380

          .         .         .         .         .         .       g.28194
 CAGCGCTGGTTCGCCAAGTTGAAGCGCAAGGCTGCGGCAAAGCTGCGCGAGATCGAGCAG       c.1200
 Q  R  W  F  A  K  L  K  R  K  A  A  A  K  L  R  E  I  E  Q         p.400

          .         .         .         .         .         .       g.28254
 AGCTGGAAGCACGAGAAGGCGGTGCCTGGGGAGGTCGACACTCTGCGCAAGCTCAGCCCC       c.1260
 S  W  K  H  E  K  A  V  P  G  E  V  D  T  L  R  K  L  S  P         p.420

          .         .         .         .         .         .       g.28314
 GACCGCTTCCAGCGAAAGCGGCGATTGAGCGGGGCTCAAGCGCCGGGCCCCTCGGTCCCT       c.1320
 D  R  F  Q  R  K  R  R  L  S  G  A  Q  A  P  G  P  S  V  P         p.440

          .         .         .         .         .         .       g.28374
 ACCAGGGAGCCTGAGGGTGGGACCCTGGCGGCTTGGCAGGAGGGAGAGACTGAGACTGCT       c.1380
 T  R  E  P  E  G  G  T  L  A  A  W  Q  E  G  E  T  E  T  A         p.460

          .         .         .         .         .         .       g.28434
 CAGCACTCAGGTTTGGGCCTGATCAACAGTTTTGCTTCTGGAGAAGTGACCACCAACGGG       c.1440
 Q  H  S  G  L  G  L  I  N  S  F  A  S  G  E  V  T  T  N  G         p.480

          .         .         .         .         .         .       g.28494
 GAGGCTGCCCCCGAGAATGGAGAGGACGGAGAGCATGGCTTGCTGACATACATCTGTGAC       c.1500
 E  A  A  P  E  N  G  E  D  G  E  H  G  L  L  T  Y  I  C  D         p.500

          .         .         .         .         .         .       g.28554
 GCCATGGAGCTGGGGCCTCAGAGAGCCCTCAAAGAGGAGAGTGGGGCCAAGAAGAAAAAG       c.1560
 A  M  E  L  G  P  Q  R  A  L  K  E  E  S  G  A  K  K  K  K         p.520

          .         .         .         .         .         .       g.28614
 AAAGATGAGGAATCCAAGCAAGGCCTGCGGAAGCCAGAGTTAGAGAAGGCAGCCCAAAGC       c.1620
 K  D  E  E  S  K  Q  G  L  R  K  P  E  L  E  K  A  A  Q  S         p.540

          .         .         .         .         .         .       g.28674
 CGCCGTTCTTCAGAAAACTGCATCCCCAGCTCAGACGAGCCTGACTCCTGTGGGACTCAG       c.1680
 R  R  S  S  E  N  C  I  P  S  S  D  E  P  D  S  C  G  T  Q         p.560

          .         .         .         .         .         .       g.28734
 GGGCCCGTGGGCGTGGAGCAGGTTCAGACCCAGCCCAGAGGCAGGGCTGCACGGGGGCCT       c.1740
 G  P  V  G  V  E  Q  V  Q  T  Q  P  R  G  R  A  A  R  G  P         p.580

          .         .         .         .         .         .       g.28794
 GGGTCCTCTGGCACAGATAGTACCAGGAAGCCAGCCTCTGCTGTGGGCACTCCAGACAAG       c.1800
 G  S  S  G  T  D  S  T  R  K  P  A  S  A  V  G  T  P  D  K         p.600

          .         .         .         .         .         .       g.28854
 GCCCAGAAGGCCCCTGGCCCAGGCCCAGGCCAGGAAGTGTATTTCTCCTTGAAGGACATG       c.1860
 A  Q  K  A  P  G  P  G  P  G  Q  E  V  Y  F  S  L  K  D  M         p.620

          .         .         .         .         .         .       g.28914
 TACCTGGAGAACACCCAGGCAGTCAGGCCTCTTGGGGAAGAGGGACCCCAGACCCTGAGT       c.1920
 Y  L  E  N  T  Q  A  V  R  P  L  G  E  E  G  P  Q  T  L  S         p.640

          .         .         .         .         .         .       g.28974
 GTCCGGGCGCCTGGGGAGAGTCCCAAGGGGAAGGCACCCCTCAGGGCTAGAAGCGAGGGG       c.1980
 V  R  A  P  G  E  S  P  K  G  K  A  P  L  R  A  R  S  E  G         p.660

          .         .         .         .         .         .       g.29034
 GTGCCTGGCGCTCCTGGCCAGCCCACACACTCCTTGACCCCCCAGCCGACTAGGCCTTTC       c.2040
 V  P  G  A  P  G  Q  P  T  H  S  L  T  P  Q  P  T  R  P  F         p.680

          .         .         .         .         .         .       g.29094
 AACAGAAAGAGATTTGCCCCTCCAAAGCCCAAAGGAGAGGCCACCACTGACAGCAAGCCC       c.2100
 N  R  K  R  F  A  P  P  K  P  K  G  E  A  T  T  D  S  K  P         p.700

          .         .         .         .         .         .       g.29154
 ATTTCTTCTCTGAGTCAAGCTCCAGAATGCGGGGCCCAGAGCTTAGGAAAGGCCCCACCT       c.2160
 I  S  S  L  S  Q  A  P  E  C  G  A  Q  S  L  G  K  A  P  P         p.720

          .         .         .         .         .         .       g.29214
 CAGGCCTCTGTGCAGGTGCCGACGCCCCCTGCCCGGCGGAGACATGGCACCCGGGACAGC       c.2220
 Q  A  S  V  Q  V  P  T  P  P  A  R  R  R  H  G  T  R  D  S         p.740

          .         .         .          | 06        .         .    g.44733
 ACGTTGCAGGGGCAAGCAGGCCACAGGACTCCAGGAGAG | GTCCTGGAATGCCAGACAACC    c.2280
 T  L  Q  G  Q  A  G  H  R  T  P  G  E   | V  L  E  C  Q  T  T      p.760

          .         .         .         .         .         .       g.44793
 ACGGCTCCTACCATGTCGGCCAGCAGCAGCTCTGATGTAGCCTCCATTGGGGTTAGCACT       c.2340
 T  A  P  T  M  S  A  S  S  S  S  D  V  A  S  I  G  V  S  T         p.780

          .         .         .         .         .         .       g.44853
 TCCGGAAGTCAAGGTATCATTGAACCCATGGATATGGAAACCCAGGAGGATGGGAGAACA       c.2400
 S  G  S  Q  G  I  I  E  P  M  D  M  E  T  Q  E  D  G  R  T         p.800

          .         .         .         .         .         .       g.44913
 TCTGCTAACCAGAGAACTGGAAGCAAGAAGAATGTGCAGGCAGATGGGAAGATACAAGTG       c.2460
 S  A  N  Q  R  T  G  S  K  K  N  V  Q  A  D  G  K  I  Q  V         p.820

          .         .         .         .         .         .       g.44973
 GATGGAAGGACCAGGGGAGATGGAACACAGACAGCCCAGAGGACACGTGCAGATAGGAAG       c.2520
 D  G  R  T  R  G  D  G  T  Q  T  A  Q  R  T  R  A  D  R  K         p.840

          .         .         .         .         .         .       g.45033
 ACGCAGGTGGATGCTGGGACACAAGAAAGCAAGAGGCCACAGTCAGACAGGAGTGCACAG       c.2580
 T  Q  V  D  A  G  T  Q  E  S  K  R  P  Q  S  D  R  S  A  Q         p.860

          .         .         .         .         .         .       g.45093
 AAGGGCATGATGACACAGGGAAGGGCAGAGACACAGCTAGAAACAACACAGGCAGGTGAG       c.2640
 K  G  M  M  T  Q  G  R  A  E  T  Q  L  E  T  T  Q  A  G  E         p.880

          .         .         .         .         .         .       g.45153
 AAGATACAGGAAGACAGGAAGGCCCAGGCAGATAAGGGCACACAGGAAGACAGAAGGATG       c.2700
 K  I  Q  E  D  R  K  A  Q  A  D  K  G  T  Q  E  D  R  R  M         p.900

          .         .         .         .         .         .       g.45213
 CAGGGAGAGAAGGGGATGCAGGGAGAGAAGGGGACGCAGTCAGAGGGGAGCGCGCCCACA       c.2760
 Q  G  E  K  G  M  Q  G  E  K  G  T  Q  S  E  G  S  A  P  T         p.920

          .         .         .         .         .         .       g.45273
 GCCATGGAAGGTCAGTCTGAGCAAGAGGTGGCAACCAGCCTCGGCCCACCATCCAGAACC       c.2820
 A  M  E  G  Q  S  E  Q  E  V  A  T  S  L  G  P  P  S  R  T         p.940

          .         .         .         .         .         .       g.45333
 CCCAAACTCCCACCTACAGCGGGTCCTAGAGCTCCTCTGAATATTGAATGTTTTGTACAG       c.2880
 P  K  L  P  P  T  A  G  P  R  A  P  L  N  I  E  C  F  V  Q         p.960

          .         .         .         .         .         .       g.45393
 ACCCCAGAAGGGTCTTGTTTCCCAAAAAAACCTGGTTGCCTGCCCAGATCTGAGGAGGCA       c.2940
 T  P  E  G  S  C  F  P  K  K  P  G  C  L  P  R  S  E  E  A         p.980

          .         .         .         .         .         .       g.45453
 GTAGTAACAGCCTCCAGGAACCATGAGCAAACTGTGCTGGGTCCCCTGTCAGGGAACCTC       c.3000
 V  V  T  A  S  R  N  H  E  Q  T  V  L  G  P  L  S  G  N  L         p.1000

          .         .         .         .         .         .       g.45513
 ATGCTCCCAGCACAGCCGCCCCATGAGGGGAGTGTGGAGCAGGTGGGAGGAGAGAGATGC       c.3060
 M  L  P  A  Q  P  P  H  E  G  S  V  E  Q  V  G  G  E  R  C         p.1020

          .         .         .         .         .         .       g.45573
 CGAGGGCCACAGTCATCAGGCCCAGTCGAGGCCAAGCAGGAGGACAGCCCGTTCCAGTGC       c.3120
 R  G  P  Q  S  S  G  P  V  E  A  K  Q  E  D  S  P  F  Q  C         p.1040

          .         .         .         .         .         .       g.45633
 CCCAAGGAGGAGCGGCCAGGGGGAGTGCCGTGTATGGATCAGGGTGGCTGTCCTCTAGCT       c.3180
 P  K  E  E  R  P  G  G  V  P  C  M  D  Q  G  G  C  P  L  A         p.1060

          .         .         .         .         .         .       g.45693
 GGCCTGAGCCAGGAGGTACCCACGATGCCTTCTCTTCCTGGAACTGGGCTGACAGCTAGC       c.3240
 G  L  S  Q  E  V  P  T  M  P  S  L  P  G  T  G  L  T  A  S         p.1080

          .         .         .         .         .         .       g.45753
 CCAAAGGCGGGGCCGTGTAGCACCCCGACTTCTCAGCACGGGAGCACAGCCACCTTCCTG       c.3300
 P  K  A  G  P  C  S  T  P  T  S  Q  H  G  S  T  A  T  F  L         p.1100

          .         .         .         .         .         .       g.45813
 CCCTCTGAGGATCAGGTCCTGATGAGTTCTGCCCCAACACTGCACCTGGGGCTGGGGACC       c.3360
 P  S  E  D  Q  V  L  M  S  S  A  P  T  L  H  L  G  L  G  T         p.1120

          .         .         .         .         .         .       g.45873
 CCCACTCAGAGTCACCCACCAGAAACCATGGCCACCAGCAGTGAGGGGGCCTGCGCCCAG       c.3420
 P  T  Q  S  H  P  P  E  T  M  A  T  S  S  E  G  A  C  A  Q         p.1140

          .         .         .         .         .         .       g.45933
 GTACCAGATGTGGAGGGGCGGACCCCAGGTCCCCGGAGCTGTGACCCTGGCCTCATAGAT       c.3480
 V  P  D  V  E  G  R  T  P  G  P  R  S  C  D  P  G  L  I  D         p.1160

          .         .         .         .         .         .       g.45993
 TCCCTGAAGAACTACCTGCTTCTGCTGCTGAAGCTGTCCAGCACAGAGACAAGTGGAGCA       c.3540
 S  L  K  N  Y  L  L  L  L  L  K  L  S  S  T  E  T  S  G  A         p.1180

          .         .         .         .         .         .       g.46053
 GGGGGAGAGTCCCAGGTGGGGGCAGCCACCGGAGGTCTGGTGCCCTCAGCCACTCTGACA       c.3600
 G  G  E  S  Q  V  G  A  A  T  G  G  L  V  P  S  A  T  L  T         p.1200

          .         .         .         .         .         .       g.46113
 CCCACTGTGGAAGTGGCTGGGCTTAGTCCCCGGACATCGAGGCGCATCCTGGAGCGTGTG       c.3660
 P  T  V  E  V  A  G  L  S  P  R  T  S  R  R  I  L  E  R  V         p.1220

          .         .         .         .         .         .       g.46173
 GAGAACAACCACCTGGTGCAGAGTGCACAGACCCTGCTGCTGAGCCCCTGTACCTCCCGC       c.3720
 E  N  N  H  L  V  Q  S  A  Q  T  L  L  L  S  P  C  T  S  R         p.1240

          .         .         .         .         .         .       g.46233
 CGCCTCACCGGCCTCCTGGACCGTGAGGTGCAGGCTGGCCGCCAGGCCCTTGCTGCTGCC       c.3780
 R  L  T  G  L  L  D  R  E  V  Q  A  G  R  Q  A  L  A  A  A         p.1260

          .         .         .         .         .         .       g.46293
 CGAGGCTCCTGGGGTCCTGGTCCCAGCTCCCTCACTGTCCCTGCCATTGTGGTAGACGAG       c.3840
 R  G  S  W  G  P  G  P  S  S  L  T  V  P  A  I  V  V  D  E         p.1280

          .         .         .         .         .         .       g.46353
 GAGGACCCTGGGCTGGCCTCAGAAGGAGCCAGTGAGGGTGAAGGAGAGGTTTCCCCTGAG       c.3900
 E  D  P  G  L  A  S  E  G  A  S  E  G  E  G  E  V  S  P  E         p.1300

          .         .         .         .         .         .       g.46413
 GGGCCTGGCCTCCTGGGGGCCTCTCAGGAGAGCAGCATGGCTGGTCGACTGGGGGAGGCG       c.3960
 G  P  G  L  L  G  A  S  Q  E  S  S  M  A  G  R  L  G  E  A         p.1320

          .         .         .         .         .         .       g.46473
 GGTGGGCAGGCAGCCCCTGGACAGGGGCCCTCAGCAGAGAGCATAGCCCAGGAGCCCTCC       c.4020
 G  G  Q  A  A  P  G  Q  G  P  S  A  E  S  I  A  Q  E  P  S         p.1340

          .         .         .         .         .         .       g.46533
 CAAGAGGAGAAGTTCCCAGGGGAGGCTCTGACAGGTCTCCCGGCAGCTACACCTGAGGAA       c.4080
 Q  E  E  K  F  P  G  E  A  L  T  G  L  P  A  A  T  P  E  E         p.1360

          .         .         .         .         .         .       g.46593
 CTGGCTCTAGGGGCCCGGAGGAAGAGATTTCTCCCTAAGGTCAGAGCAGCAGGAGACGGG       c.4140
 L  A  L  G  A  R  R  K  R  F  L  P  K  V  R  A  A  G  D  G         p.1380

          .         .         .         .         .         .       g.46653
 GAGGCAACCACACCTGAAGAAAGGGAGAGCCCCACGGTTTCCCCCCGGGGGCCCAGGAAA       c.4200
 E  A  T  T  P  E  E  R  E  S  P  T  V  S  P  R  G  P  R  K         p.1400

          .         .         .         .         .         .       g.46713
 AGCCTGGTGCCTGGGTCCCCAGGGACTCCAGGGCGGGAGAGACGCTCCCCTACGCAGGGC       c.4260
 S  L  V  P  G  S  P  G  T  P  G  R  E  R  R  S  P  T  Q  G         p.1420

          .         .         .         .         .         .       g.46773
 AGAAAGGCGAGCATGCTGGAGGTGCCTCGGGCAGAGGAGGAGCTGGCGGCAGGAGACCTG       c.4320
 R  K  A  S  M  L  E  V  P  R  A  E  E  E  L  A  A  G  D  L         p.1440

          .         .         .         .         .         .       g.46833
 GGCCCCAGCCCCAAGGCCGGCGGTCTGGACACAGAGGTGGCCCTGGATGAAGGCAAGCAG       c.4380
 G  P  S  P  K  A  G  G  L  D  T  E  V  A  L  D  E  G  K  Q         p.1460

          .         .         .         .    | 07    .         .    g.47580
 GAGACACTGGCCAAGCCCAGGAAAGCCAAAGACCTGCTGAAAG | CCCCACAGGTGATCCGG    c.4440
 E  T  L  A  K  P  R  K  A  K  D  L  L  K  A |   P  Q  V  I  R      p.1480

          .         .         .         .         .         .       g.47640
 AAGATTCGGGTGGAGCAGTTTCCTGATGCCTCCGGTAGCCTGAAGCTGTGGTGCCAGTTT       c.4500
 K  I  R  V  E  Q  F  P  D  A  S  G  S  L  K  L  W  C  Q  F         p.1500

          .         .         .         .         .         .       g.47700
 TTCAACATTCTTAGTGACTCAGTCTTGACATGGGCCAAGGATCAGCGCCCAGTGGGCGAG       c.4560
 F  N  I  L  S  D  S  V  L  T  W  A  K  D  Q  R  P  V  G  E         p.1520

          .  | 08      .         .         .         .         .    g.48145
 GTGGGCAGGAG | CGCAGGGGATGAGGGGCCGGCGGCCTTGGCCATCGTGCAGGCCTCCCCC    c.4620
 V  G  R  S  |  A  G  D  E  G  P  A  A  L  A  I  V  Q  A  S  P      p.1540

          .         .         .         .         .         .       g.48205
 GTAGACTGCGGTGTGTATCGGTGCACCATCCACAATGAGCACGGCTCGGCCTCCACCGAC       c.4680
 V  D  C  G  V  Y  R  C  T  I  H  N  E  H  G  S  A  S  T  D         p.1560

          .          | 09        .         .         .      | 10  . g.50960
 TTCTGCCTCAGCCCTGAGG | TGTTGTCAGGATTCATCTCCAGAGAAGAAGGTGAAG | TTGGA c.4740
 F  C  L  S  P  E  V |   L  S  G  F  I  S  R  E  E  G  E  V |   G   p.1580

          .         .         .         .         .         .       g.51020
 GAAGAGATTGAGATGACCCCTATGGTGTTTGCTAAGGGTCTGGCTGACTCTGGCTGCTGG       c.4800
 E  E  I  E  M  T  P  M  V  F  A  K  G  L  A  D  S  G  C  W         p.1600

          .         .         .         .         .         .       g.51080
 GGGGACAAGCTCTTTGGGCGACTGGTAAGCGAGGAGCTCCGAGGGGGTGGATATGGGTGT       c.4860
 G  D  K  L  F  G  R  L  V  S  E  E  L  R  G  G  G  Y  G  C         p.1620

          .         .         .         .         .         .       g.51140
 GGCCTTCGGAAGGCCTCCCAGGCCAAGGTCATCTACGGGCTGGAACCCATCTTCGAGTCG       c.4920
 G  L  R  K  A  S  Q  A  K  V  I  Y  G  L  E  P  I  F  E  S         p.1640

          .         .         .         .         .         .       g.51200
 GGCCGCACGTGCATCATCAAGGTGTCCAGCCTGCTTGTGTTTGGGCCCAGCAGTGAGACT       c.4980
 G  R  T  C  I  I  K  V  S  S  L  L  V  F  G  P  S  S  E  T         p.1660

          .         .         .       | 11 .         .         .    g.51896
 TCTCTTGTGGGCAGAAACTACGACGTCACCATCCAG | GGGTGCAAGATCCAGAACATGAGT    c.5040
 S  L  V  G  R  N  Y  D  V  T  I  Q   | G  C  K  I  Q  N  M  S      p.1680

          .         .         .         .         .         .       g.51956
 CGGGAGTACTGCAAAATCTTCGCAGCAGAAGCCCGGGCCGCGCCTGGCTTTGGGGAGGTG       c.5100
 R  E  Y  C  K  I  F  A  A  E  A  R  A  A  P  G  F  G  E  V         p.1700

       | 12  .         .         .         .         .         .    g.52817
 CCTGA | GATCATCCCACTGTATCTGATCTACCGGCCTGCAAACAATATCCCATATGCTACC    c.5160
 P  E  |  I  I  P  L  Y  L  I  Y  R  P  A  N  N  I  P  Y  A  T      p.1720

          .         .         .         .         .         .       g.52877
 CTGGAGGAAGACCTGGGCAAGCCCCTGGAGTCTTACTGTTCTCGGGAATGGGGCTGTGCT       c.5220
 L  E  E  D  L  G  K  P  L  E  S  Y  C  S  R  E  W  G  C  A         p.1740

          .         .         .         .         .         .       g.52937
 GAGGCTCCGACAGCATCTGGCAGCTCTGAGGCCATGCAGAAATGCCAGACCTTCCAACAC       c.5280
 E  A  P  T  A  S  G  S  S  E  A  M  Q  K  C  Q  T  F  Q  H         p.1760

          .         .         .         .          | 13        .    g.55648
 TGGCTGTATCAGTGGACAAATGGCAGCTTCCTTGTCACAGACTTGGCAG | GGGTTGACTGG    c.5340
 W  L  Y  Q  W  T  N  G  S  F  L  V  T  D  L  A  G |   V  D  W      p.1780

          .         .         .         | 14         .         .    g.56453
 AAGATGACTGATGTGCAGATTGCTACCAAACTCCGAGG | ATACCAGGGCCTCAAGGAAAGC    c.5400
 K  M  T  D  V  Q  I  A  T  K  L  R  G  |  Y  Q  G  L  K  E  S      p.1800

          .         .         .         .         .         .       g.56513
 TGCTTCCCTGCCCTGCTGGACCGGTTCGCCTCCTCCCACCAGTGCAATGCCTACTGTGAG       c.5460
 C  F  P  A  L  L  D  R  F  A  S  S  H  Q  C  N  A  Y  C  E         p.1820

          .         .         .         .         .         .       g.56573
 CTGCTGGGGCTGACACCTCTCAAGGGCCCGGAGGCGGCCCACCCCCAAGCCAAAGCCAAA       c.5520
 L  L  G  L  T  P  L  K  G  P  E  A  A  H  P  Q  A  K  A  K         p.1840

          .         .         .         .         .         .       g.56633
 GGCTCTAAGAGTCCATCTGCTGGCAGGAAAGGCTCCCAGCTGAGTCCTCAGCCCCAGAAG       c.5580
 G  S  K  S  P  S  A  G  R  K  G  S  Q  L  S  P  Q  P  Q  K         p.1860

          .         .         .         .         .         .       g.56693
 AAAGGCCTCCCTAGTCCTCAGGGCACCCGGAAGAGTGCTCCAAGTTCCAAGGCCACCCCT       c.5640
 K  G  L  P  S  P  Q  G  T  R  K  S  A  P  S  S  K  A  T  P         p.1880

          .         .         .         .         .         .       g.56753
 CAGGCCTCAGAGCCAGTCACCACTCAGTTGTTGGGACAGCCTCCCACCCAAGAGGAGGGC       c.5700
 Q  A  S  E  P  V  T  T  Q  L  L  G  Q  P  P  T  Q  E  E  G         p.1900

          .         .                                               g.56777
 TCCAAGGCCCAGGGCATGCGGTAG                                           c.5724
 S  K  A  Q  G  M  R  X                                             p.1907

          .         .         .         .         .         .       g.56837
 cctccgcagaggctgggggcctccacccagcagcagaccaaccaggaagcagcttgaact       c.*60

          .         .         .         .         .         .       g.56897
 ggatggagactttccaaatatggaactaactggagaaggtgcacgaaggagacaccactt       c.*120

          .         .         .         .         .         .       g.56957
 ggggacctctctgagcaggctctcgtgaatcagctcgtcatcagatggctttggtgcatg       c.*180

          .         .         .         .         .         .       g.57017
 gcacatagcccactggcctcttctggtgccactgtcacccagggctcccgggcctcaagc       c.*240

          .         .         .         .         .         .       g.57077
 agtccccacctccaagtgcctggcaacctaggccctccttgaagtttacactttgccact       c.*300

          .         .         .         .         .         .       g.57137
 gctggaggctcccctgagtcctctgcatgagttctgcaccccaagcccttgccccagccc       c.*360

          .         .         .         .         .         .       g.57197
 agtccagcagcagatgttacaatctgagtgaggacatgcaggccaacttttaccctcctg       c.*420

          .         .         .         .         .         .       g.57257
 catttgcctggccctgatctcgcctgtcctcagggatccagacttcctctgctggtctgg       c.*480

          .         .         .         .         .         .       g.57317
 cctggtgactctcagggtatcttctccttccagctactttcgctcactgatctcagctta       c.*540

          .         .         .         .         .         .       g.57377
 tcctgcaactaaccatccttgagcccagatggggctcagggcccttccagagcctgtcat       c.*600

          .         .         .         .         .         .       g.57437
 gtccttgtgcagtggcctttgatgtgtgttcacgctcttcccccttcactcactcgcctg       c.*660

          .         .         .         .         .         .       g.57497
 cttcccatgctcccttgtaccccctcgccacatccctgtcttggggcccagctgcagcct       c.*720

          .         .         .         .         .         .       g.57557
 gctgcctgcccttcatggctctgcacatggccctttgcttgagggctccccactccctgc       c.*780

          .         .         .         .         .         .       g.57617
 ccaccaatacccaggtgaggaacagaccctctggcctctcaccccacttcagtgctctct       c.*840

          .         .         .         .         .         .       g.57677
 tccccaacttctctcgggctctttgctcatgaggtgagagctggtgtgagggttgtgtca       c.*900

          .         .         .         .         .         .       g.57737
 gcagctgtagccagagagaggtgttgactctgagagaccttgcactccatactgaaagga       c.*960

          .         .         .         .         .         .       g.57797
 ggtggggtcacagtgaatttcacatcccctctcaaccaggagtggagggctaggtccctt       c.*1020

          .         .         .         .         .         .       g.57857
 ccccatggggagtacacttgggtgttctaggagggatgcagtctatccatgcacttgggt       c.*1080

          .         .         .         .         .         .       g.57917
 ggaggggagtctctgtgcctgggaattaggacccctgctccaaccatcgctcttgatcct       c.*1140

          .         .         .         .         .         .       g.57977
 ggggccccagctctgggtcctcatgtatgggctcccaaggacccagcagcctggatcctt       c.*1200

          .         .         .         .         .         .       g.58037
 ccagagcatccctcctggaggcctgggatggggtaggtctgcagctagcctactcccttt       c.*1260

          .         .         .         .         .         .       g.58097
 ggaatgcaataaaggcagcattgtgtgccctgcttgccctcatctggtgtggttggaggt       c.*1320

          .         .         .         .         .         .       g.58157
 ctgtggagtcaaggtccccctctcccaggcaggctctctgagggcattctgtagtcccag       c.*1380

          .         .         .         .         .         .       g.58217
 gcccactggaaaaatgaatctatattttggttcctggaccgaagttcagtcgcagccttc       c.*1440

          .         .         .         .         .         .       g.58277
 tgtggccacagaaagacagcttgtgctgcttgcacaactgagctgctggtgtgtacccct       c.*1500

          .         .         .         .         .         .       g.58337
 tagcagggtgtctggggacttacgcctttggaattgctcttcattcagaagaggaacaca       c.*1560

          .         .         .         .         .         .       g.58397
 aaggaagccacccaggaaggaagcacagagctgggggctctggaaacgccctgtgtctct       c.*1620

          .         .         .         .         .         .       g.58457
 ggctacagcaagaccagcccaggagcccaccagcacctgcctctcagctacttgctgacc       c.*1680

          .         .         .         .         .         .       g.58517
 atttcctgcttctcaagctgcagagaagcttttcattcccacccccacccggaacctccc       c.*1740

          .         .         .         .         .         .       g.58577
 cttgcctaacatttcccctctatggtaacatctctgacttctctacctcctctgtgctca       c.*1800

          .         .         .         .         .         .       g.58637
 ggtgactccacatcttctgccccagtgtgtccccacctctcccagcctgtatacccagat       c.*1860

          .         .         .         .         .         .       g.58697
 tactttggtgaactgagagctggagtactgttcattcatttattcattcacccactcatt       c.*1920

          .         .         .         .         .         .       g.58757
 cagcagacatatactgagtgctactttatgccagaccctgggctggcagctgtttggagg       c.*1980

          .         .         .         .         .         .       g.58817
 caaagatgtatgaggccatctcaggagagactacttgttaggattcttgagttttgacca       c.*2040

          .         .         .         .         .         .       g.58877
 acagaaatgaacttggaccaacttaagcaaggaaaaagcgttcatgggaaggatgctggg       c.*2100

          .         .         .         .         .         .       g.58937
 atagctcacaaaaccaaaagaatagctgaacaattaattggccctgggaagggtgggagc       c.*2160

          .         .         .         .         .         .       g.58997
 tggggcaactacgaggcttgcctcccaggagctgctgcggttggcagatcaacaccaact       c.*2220

          .         .         .         .         .         .       g.59057
 tgccattggttctagtgggtccccttccactcaagattcaaattccaagtgaaagaacct       c.*2280

          .         .         .         .         .         .       g.59117
 ggcctggagctcagggcttcatagagtgggaggggggcagtcttccaaaagatgcggact       c.*2340

          .         .         .         .         .         .       g.59177
 cttgccacatggaatggtggagtacggaagggtggaaagggtttggtaggtaaaccctga       c.*2400

          .         .         .         .         .         .       g.59237
 agatgcttctaacacacgtgctgttctcccatctcacgtatgacgactctcccacaggta       c.*2460

          .         .         .         .         .         .       g.59297
 accaaaaccacatttctctctgcttagggaattcaagatcatatctaacttcgaattcca       c.*2520

          .         .         .         .         .         .       g.59357
 ggggtaatgacacggcttctattctccaaagtccagtgtcattagggataatctccctct       c.*2580

          .         .         .         .         .         .       g.59417
 ttcagttttatcacaattccattttgaaattctacaacctgtagattaactggtaaaatt       c.*2640

          .         .         .         .         .         .       g.59477
 aaccatattcaaccaaaattgtataacccagcaagaatggaagaatgggtaaagtctaca       c.*2700

          .         .         .         .         .         .       g.59537
 gtccatttctagaactggtcatgagaactcatgtttatgatgatggacttttgatctggt       c.*2760

          .         .         .         .         .         .       g.59597
 ggagggacccaaaccttcagttctgaagctcattagtggtcctacctgtgtgacaggcat       c.*2820

          .         .         .         .         .         .       g.59657
 ttactattggactggcagtcccaggacaaactccaggaatccccccatgtccatctctac       c.*2880

          .         .         .         .         .         .       g.59717
 tcctgccctcttttacgtagcagcaatcatattttcccttgatagggttcatcattctag       c.*2940

          .         .         .         .         .         .       g.59777
 atactccgatgacttctttataatgagcctgaagtggcctggtggctgcctcagcttcca       c.*3000

          .         .         .         .         .         .       g.59837
 gttcagttgaatagctactacgtctttgaggatgtgctccttgctgggggactaaactct       c.*3060

          .         .         .         .         .         .       g.59897
 ccacgccagcccagtcccaaacctaaacctcgggtatgagaaaagcattgagatctagca       c.*3120

          .         .         .         .         .         .       g.59957
 atagcagggccatgtccacactgcgtcctatccctgaaggagaaacagcgccaggtatgg       c.*3180

          .         .         .         .         .         .       g.60017
 ttgccggctccaagcgcatgctgcctcctgcaggcctgacccagcctctcggggtgttgt       c.*3240

          .         .         .         .         .         .       g.60077
 ttctggtgccatagttgaattttcaacaaaccatttcaccaccctctcaagacagctgct       c.*3300

          .         .         .         .         .         .       g.60137
 gctggtttgtgggttcctgacaagatgagtgaatgcctgcccatcaacccgttactattc       c.*3360

          .         .         .         .         .         .       g.60197
 ttttagctgtaaagtgaattctctggttgggtgcagtatgtgaggaggtcacatgatgtt       c.*3420

          .         .         .         .         .         .       g.60257
 tatggcatttgagaattccatggatattgatggcaggagaggcatgatgggttagaaaag       c.*3480

          .         .         .         .         .         .       g.60317
 caaatccaaatccagaacaagggcccaaaagggccaagacaaattactgcccctctcaga       c.*3540

          .         .         .         .         .         .       g.60377
 gccacaggtgtagacaggtgaaaacactggacagtgagtgagctacccacacacgaccca       c.*3600

          .         .         .         .         .         .       g.60437
 ctggtgccttcagagccttagcctggagcgacagtgtaccgttgataatggaacgcactg       c.*3660

          .         .         .         .         .         .       g.60497
 gccatgccagactttatggctaggcggtcagataacactacgaggggcagcatggccacc       c.*3720

          .         .         .         .         .         .       g.60557
 aagtgtgccagggccaagtgttcaggctctcccagagcccagtggtgagccagaagggca       c.*3780

          .         .         .         .         .         .       g.60617
 ttttgtacaaggataatggttactttttggccagagcatcacttggctccaaatcctggg       c.*3840

          .         .         .         .         .         .       g.60677
 ttcccgtatcatattttcttgtcaggacttaccgcaagctatgtatggctccgcggtatg       c.*3900

          .         .         .         .         .         .       g.60737
 ccacccatggaaagacacctcatgcaccattgacctgccaggtcacgtggcctgatggca       c.*3960

          .         .         .         .         .         .       g.60797
 gcgtcggctgcacaaaagactttcccagctgcaatgccttcgcctgctctaggcccaccc       c.*4020

          .         .         .         .         .         .       g.60857
 caaagctggcagtcttctaggtcagttggtaaatgggttagaacaagatgccccaaagtg       c.*4080

          .         .         .         .         .         .       g.60917
 gcataaattgcatggaattaggccttagtggcgagggattcgacatacagtcatttgtcc       c.*4140

          .         .         .         .         .         .       g.60977
 tacattgtgaaggaaacattctgacctcaaacagatccctcaaccccagaactttataga       c.*4200

          .         .         .         .         .         .       g.61037
 aggggcagaccttggcattttcacatgatttatctcccactctgattcacatatgtttga       c.*4260

          .         .         .         .         .         .       g.61097
 ccaaggcactgggcagctgccaatttcccgtcccttctgtagtcccagatgaatggatac       c.*4320

          .         .         .         .         .         .       g.61157
 agacctctttggggaaggctgcaaggaaggttcacaacatgcatctaagtgttaaaataa       c.*4380

          .         .         .         .         .         .       g.61217
 gtttttccttcaaaaatacatttgacttcctctccatttaaggtctggaaatcaagtggg       c.*4440

          .         .         .         .         .         .       g.61277
 agatcttgactttaccttggcacttgagacagaactgttggcccagaagtctttagttaa       c.*4500

          .         .         .         .         .         .       g.61337
 ggtcattactaggccatatcttaggggcgtctggcctttttcattcctgggacccacagc       c.*4560

          .         .         .         .         .         .       g.61397
 tcgaggtctggtttccatgccctatcccttacgatgagcgccctattttgttccttctgt       c.*4620

          .         .         .         .         .         .       g.61457
 ctatctctgttgctgagatcagggagcccacgttcacagcagctctttcaagcagcctcc       c.*4680

          .         .         .         .         .         .       g.61517
 caggcctagagaggaaaatcagcagagcctcgtgaatgtatttctcgtggcaagaaggga       c.*4740

          .         .         .         .         .         .       g.61577
 gctcatcttctgggtcctgccagagggcagtgagggggttgatgggctgggtgcatgcca       c.*4800

          .         .         .         .         .         .       g.61637
 gggacccaatcaagcatttttatcttctgaaatctttgaattcctgcctttcttggatgt       c.*4860

          .         .         .         .         .         .       g.61697
 ttggtcttttgatataatttagcatgggccaacatttggtccagatttgtattagccaag       c.*4920

          .         .         .         .         .         .       g.61757
 ccctcctaaaatagtaataacagtatctggcgatttgagcttttacgtagaatgtagaat       c.*4980

          .         .         .         .                           g.61803
 ctctggtgagtgaacatatcaataaagacaacctgaaccaaaatta                     c.*5026

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The Alpha-kinase 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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