nucleoporin 214kDa (NUP214) - coding DNA reference sequence

(used for variant description)

(last modified June 19, 2019)


This file was created to facilitate the description of sequence variants on transcript NM_005085.3 in the NUP214 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_023371.1, covering NUP214 transcript NM_005085.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.4991
                                     cgtcaccaaagcgcgccggaaatg       c.-121

 .         .         .         .         .         .                g.5051
 cgaggtcaactgcgcgccgctggcgctgaggggaggaagtttgctgtcgagcggcctggg       c.-61

 .         .         .         .         .         .                g.5111
 ttccgtgggcaaggccgtgggaggcagcgttggctgcttcgacacactgagggcggcgcg       c.-1

          .         .         .         .      | 02  .         .    g.6945
 ATGGGAGACGAGATGGATGCCATGATTCCCGAGCGGGAGATGAAG | GATTTTCAGTTTAGA    c.60
 M  G  D  E  M  D  A  M  I  P  E  R  E  M  K   | D  F  Q  F  R      p.20

          .         .         .         .         .         .       g.7005
 GCGCTAAAGAAGGTGAGAATCTTTGACTCCCCTGAGGAATTGCCCAAGGAACGCTCGAGT       c.120
 A  L  K  K  V  R  I  F  D  S  P  E  E  L  P  K  E  R  S  S         p.40

          .         .         .         .         .         .       g.7065
 CTGCTTGCTGTGTCCAACAAATATGGTCTGGTCTTCGCTGGTGGAGCCAGTGGCTTGCAG       c.180
 L  L  A  V  S  N  K  Y  G  L  V  F  A  G  G  A  S  G  L  Q         p.60

          .         .         .         .         .         .       g.7125
 ATTTTTCCTACTAAAAATCTTCTTATTCAAAATAAACCCGGAGATGATCCCAACAAAATA       c.240
 I  F  P  T  K  N  L  L  I  Q  N  K  P  G  D  D  P  N  K  I         p.80

   | 03      .         .         .         .         .         .    g.7797
 G | TTGATAAAGTCCAAGGCTTGCTAGTTCCTATGAAATTCCCAATCCATCACCTGGCCTTG    c.300
 V |   D  K  V  Q  G  L  L  V  P  M  K  F  P  I  H  H  L  A  L      p.100

          .         .         .         .         .         .       g.7857
 AGCTGTGATAACCTCACACTCTCTGCGTGCATGATGTCCAGTGAATATGGTTCCATTATT       c.360
 S  C  D  N  L  T  L  S  A  C  M  M  S  S  E  Y  G  S  I  I         p.120

          .         .         .    | 04    .         .         .    g.8712
 GCTTTTTTTGATGTTCGCACATTCTCAAATGAG | GCTAAACAGCAAAAACGCCCATTTGCC    c.420
 A  F  F  D  V  R  T  F  S  N  E   | A  K  Q  Q  K  R  P  F  A      p.140

          .         .         .         .         .         .       g.8772
 TATCATAAGCTTTTGAAAGATGCAGGAGGCATGGTGATTGATATGAAGTGGAACCCCACT       c.480
 Y  H  K  L  L  K  D  A  G  G  M  V  I  D  M  K  W  N  P  T         p.160

          .         .         .         .         .         .       g.8832
 GTCCCCTCCATGGTGGCAGTTTGTCTGGCTGATGGTAGTATTGCTGTCCTGCAAGTCACG       c.540
 V  P  S  M  V  A  V  C  L  A  D  G  S  I  A  V  L  Q  V  T         p.180

          .         .         .         .         .   | 05     .    g.10180
 GAAACAGTGAAAGTATGTGCAACTCTTCCTTCCACGGTAGCAGTAACCTCTG | TGTGCTGG    c.600
 E  T  V  K  V  C  A  T  L  P  S  T  V  A  V  T  S  V |   C  W      p.200

          .         .         .         .         .         .       g.10240
 AGCCCCAAAGGAAAGCAGCTGGCAGTGGGAAAACAGAATGGAACTGTGGTCCAGTATCTT       c.660
 S  P  K  G  K  Q  L  A  V  G  K  Q  N  G  T  V  V  Q  Y  L         p.220

     | 06    .         .         .         .         .         .    g.12059
 CCT | ACTTTGCAGGAAAAAAAAGTCATTCCTTGTCCTCCGTTTTATGAGTCAGATCATCCT    c.720
 P   | T  L  Q  E  K  K  V  I  P  C  P  P  F  Y  E  S  D  H  P      p.240

         | 07.         .         .         .         .         .    g.12565
 GTCAGAG | TTCTGGATGTGCTGTGGATTGGTACCTACGTCTTCGCCATAGTGTATGCTGCT    c.780
 V  R  V |   L  D  V  L  W  I  G  T  Y  V  F  A  I  V  Y  A  A      p.260

          .         .         .         .         .  | 08      .    g.14313
 GCAGATGGGACCCTGGAAACGTCTCCAGATGTGGTGATGGCTCTACTACCG | AAAAAAGAA    c.840
 A  D  G  T  L  E  T  S  P  D  V  V  M  A  L  L  P   | K  K  E      p.280

          .         .         .         .         .         .       g.14373
 GAAAAGCACCCAGAGATATTTGTGAACTTTATGGAGCCCTGTTATGGCAGCTGCACGGAG       c.900
 E  K  H  P  E  I  F  V  N  F  M  E  P  C  Y  G  S  C  T  E         p.300

          .         .         .         | 09         .         .    g.15368
 AGACAGCATCATTACTACCTCAGTTACATTGAGGAATG | GGATTTAGTGCTGGCAGCATCT    c.960
 R  Q  H  H  Y  Y  L  S  Y  I  E  E  W  |  D  L  V  L  A  A  S      p.320

          .         .         .         .      | 10  .         .    g.18702
 GCGGCTTCAACAGAAGTTAGTATCCTTGCTCGACAAAGTGATCAG | ATTAATTGGGAATCT    c.1020
 A  A  S  T  E  V  S  I  L  A  R  Q  S  D  Q   | I  N  W  E  S      p.340

          .         .         .         .         .         .       g.18762
 TGGCTACTGGAGGATTCTAGTCGAGCTGAATTGCCTGTGACAGACAAGAGTGATGACTCC       c.1080
 W  L  L  E  D  S  S  R  A  E  L  P  V  T  D  K  S  D  D  S         p.360

          .         .         .         .         .   | 11     .    g.19963
 TTGCCCATGGGAGTTGTCGTAGACTATACAAACCAAGTGGAAATCACCATCA | GTGATGAA    c.1140
 L  P  M  G  V  V  V  D  Y  T  N  Q  V  E  I  T  I  S |   D  E      p.380

          .         .         .         .         .         .       g.20023
 AAGACTCTTCCTCCTGCTCCAGTTCTCATGTTACTTTCAACAGATGGTGTGCTTTGTCCA       c.1200
 K  T  L  P  P  A  P  V  L  M  L  L  S  T  D  G  V  L  C  P         p.400

          .         .         .         .         .         .       g.20083
 TTTTATATGATTAATCAAAATCCTGGGGTTAAGTCTCTCATCAAAACACCAGAGCGACTT       c.1260
 F  Y  M  I  N  Q  N  P  G  V  K  S  L  I  K  T  P  E  R  L         p.420

          .         .         .     | 12   .         .         .    g.23712
 TCATTAGAAGGAGAGCGACAGCCCAAGTCACCAG | GAAGTACTCCCACTACCCCAACCTCC    c.1320
 S  L  E  G  E  R  Q  P  K  S  P  G |   S  T  P  T  T  P  T  S      p.440

          .         .         .         .         .         .       g.23772
 TCTCAAGCCCCACAGAAACTGGATGCTTCTGCAGCTGCAGCCCCTGCCTCTCTGCCACCT       c.1380
 S  Q  A  P  Q  K  L  D  A  S  A  A  A  A  P  A  S  L  P  P         p.460

          .         .         .         .         .         .       g.23832
 TCATCACCTGCTGCTCCCATTGCCACTTTTTCTTTGCTTCCTGCTGGTGGAGCCCCCACT       c.1440
 S  S  P  A  A  P  I  A  T  F  S  L  L  P  A  G  G  A  P  T         p.480

          .         .         .         .         .         .       g.23892
 GTGTTCTCCTTTGGTTCTTCATCTTTGAAGTCATCTGCTACGGTCACTGGGGAGCCCCCT       c.1500
 V  F  S  F  G  S  S  S  L  K  S  S  A  T  V  T  G  E  P  P         p.500

          .         .         .         .         .         .       g.23952
 TCATATTCCAGTGGCTCCGACAGCTCCAAAGCAGCCCCAGGCCCTGGCCCATCAACCTTC       c.1560
 S  Y  S  S  G  S  D  S  S  K  A  A  P  G  P  G  P  S  T  F         p.520

          .         .         .         .         .         .       g.24012
 TCTTTTGTTCCCCCTTCTAAAGCCTCCCTAGCCCCCACCCCTGCAGCGTCTCCTGTGGCT       c.1620
 S  F  V  P  P  S  K  A  S  L  A  P  T  P  A  A  S  P  V  A         p.540

          .         .         .         .         .         .       g.24072
 CCATCAGCTGCTTCATTCTCCTTTGGATCATCTGGTTTTAAGCCTACCCTGGAAAGCACA       c.1680
 P  S  A  A  S  F  S  F  G  S  S  G  F  K  P  T  L  E  S  T         p.560

          .         .         .         .         .         .       g.24132
 CCAGTGCCAAGTGTGTCTGCTCCAAATATAGCAATGAAGCCCTCCTTCCCACCCTCAACC       c.1740
 P  V  P  S  V  S  A  P  N  I  A  M  K  P  S  F  P  P  S  T         p.580

          .         .          | 13        .         .         .    g.25566
 TCTGCTGTCAAAGTCAACCTTAGTGAAAA | GTTTACTGCTGCAGCTACCTCTACTCCTGTT    c.1800
 S  A  V  K  V  N  L  S  E  K  |  F  T  A  A  A  T  S  T  P  V      p.600

          .         .         .         .         .         .       g.25626
 AGTAGCTCCCAGAGCGCACCCCCGATGTCGCCATTCTCTTCTGCCTCCAAGCCAGCTGCT       c.1860
 S  S  S  Q  S  A  P  P  M  S  P  F  S  S  A  S  K  P  A  A         p.620

          .         .         .         .         .         .       g.25686
 TCTGGACCACTCAGCCACCCCACACCTCTCTCAGCACCACCTAGTTCCGTGCCATTGAAG       c.1920
 S  G  P  L  S  H  P  T  P  L  S  A  P  P  S  S  V  P  L  K         p.640

          .         .      | 14  .         .         .         .    g.26931
 TCCTCAGTCTTGCCCTCACCATCAG | GACGATCTGCTCAGGGCAGTTCAAGCCCAGTGCCC    c.1980
 S  S  V  L  P  S  P  S  G |   R  S  A  Q  G  S  S  S  P  V  P      p.660

          .         .         .         .         .         .       g.26991
 TCAATGGTACAGAAATCACCCAGGATAACCCCTCCAGCGGCAAAGCCAGGCTCTCCCCAG       c.2040
 S  M  V  Q  K  S  P  R  I  T  P  P  A  A  K  P  G  S  P  Q         p.680

  | 15       .         .         .         .         .         .    g.29790
  | GCAAAGTCACTTCAGCCTGCTGTTGCAGAAAAGCAGGGACATCAGTGGAAAGATTCAGAT    c.2100
  | A  K  S  L  Q  P  A  V  A  E  K  Q  G  H  Q  W  K  D  S  D      p.700

          .         .        | 16.         .         .         .    g.30055
 CCTGTAATGGCTGGAATTGGGGAGGAG | ATTGCACACTTTCAGAAGGAGTTGGAAGAGTTA    c.2160
 P  V  M  A  G  I  G  E  E   | I  A  H  F  Q  K  E  L  E  E  L      p.720

          .         .         .         .         .         .       g.30115
 AAAGCCCGAACTTCCAAAGCCTGTTTCCAAGTGGGCACTTCTGAGGAGATGAAGATGCTG       c.2220
 K  A  R  T  S  K  A  C  F  Q  V  G  T  S  E  E  M  K  M  L         p.740

          .         .         .         .         .        | 17.    g.31145
 CGAACAGAATCAGATGACTTGCATACCTTTCTTTTGGAGATTAAAGAGACCACAGAG | TCG    c.2280
 R  T  E  S  D  D  L  H  T  F  L  L  E  I  K  E  T  T  E   | S      p.760

          .         .         .         .         .         .       g.31205
 CTTCATGGAGATATAAGTAGCCTGAAAACAACTTTACTTGAGGGCTTTGCTGGTGTTGAG       c.2340
 L  H  G  D  I  S  S  L  K  T  T  L  L  E  G  F  A  G  V  E         p.780

          .         .         .         .         .         .       g.31265
 GAAGCCAGAGAACAAAATGAAAGAAATCGTGACTCTGGTTATCTGCATTTGCTTTATAAA       c.2400
 E  A  R  E  Q  N  E  R  N  R  D  S  G  Y  L  H  L  L  Y  K         p.800

          .         .         .       | 18 .         .         .    g.38813
 AGACCACTGGATCCCAAGAGTGAAGCTCAGCTTCAG | GAAATTCGGCGCCTTCATCAGTAT    c.2460
 R  P  L  D  P  K  S  E  A  Q  L  Q   | E  I  R  R  L  H  Q  Y      p.820

          .         .         .         .         .         .       g.38873
 GTGAAATTTGCTGTCCAAGATGTGAATGATGTTCTAGACTTGGAGTGGGATCAGCATCTG       c.2520
 V  K  F  A  V  Q  D  V  N  D  V  L  D  L  E  W  D  Q  H  L         p.840

          .         . | 19       .         .         .         .    g.42437
 GAACAAAAGAAAAAACAAAG | GCACCTGCTTGTGCCAGAGCGAGAGACACTGTTTAACACC    c.2580
 E  Q  K  K  K  Q  R  |  H  L  L  V  P  E  R  E  T  L  F  N  T      p.860

          .         .         .         .         .         .       g.42497
 CTAGCCAACAATCGGGAAATCATCAACCAACAGAGGAAGAGGCTGAATCACCTGGTGGAT       c.2640
 L  A  N  N  R  E  I  I  N  Q  Q  R  K  R  L  N  H  L  V  D         p.880

          .         .         .         .         .         .       g.42557
 AGTCTTCAGCAGCTCCGCCTTTACAAACAGACTTCCCTGTGGAGCCTGTCCTCGGCTGTT       c.2700
 S  L  Q  Q  L  R  L  Y  K  Q  T  S  L  W  S  L  S  S  A  V         p.900

          .         .    | 20    .         .         .         .    g.43313
 CCTTCCCAGAGCAGCATTCACAG | TTTTGACAGTGACCTGGAAAGCCTGTGCAATGCTTTG    c.2760
 P  S  Q  S  S  I  H  S  |  F  D  S  D  L  E  S  L  C  N  A  L      p.920

          .         .         .         .          | 21        .    g.43478
 TTGAAAACCACCATAGAATCTCACACCAAATCCTTGCCCAAAGTACCAG | CCAAACTGTCC    c.2820
 L  K  T  T  I  E  S  H  T  K  S  L  P  K  V  P  A |   K  L  S      p.940

          .         .         .         .         .         .       g.43538
 CCCATGAAACAGGCACAACTGAGAAACTTCTTGGCCAAGAGGAAGACCCCACCAGTGAGA       c.2880
 P  M  K  Q  A  Q  L  R  N  F  L  A  K  R  K  T  P  P  V  R         p.960

          .    | 22    .         .         .         .         .    g.53508
 TCCACTGCTCCAG | CCAGCCTGTCTCGATCAGCCTTTCTGTCTCAGAGATATTATGAAGAC    c.2940
 S  T  A  P  A |   S  L  S  R  S  A  F  L  S  Q  R  Y  Y  E  D      p.980

          .         .         .         .         .         .       g.53568
 TTGGATGAAGTCAGCTCAACGTCATCTGTCTCCCAGTCTCTGGAGAGTGAAGATGCACGG       c.3000
 L  D  E  V  S  S  T  S  S  V  S  Q  S  L  E  S  E  D  A  R         p.1000

          .         .         .         .         .         .       g.53628
 ACGTCCTGTAAAGATGACGAGGCAGTGGTTCAGGCCCCTCGGCACGCCCCCGTGGTTCGC       c.3060
 T  S  C  K  D  D  E  A  V  V  Q  A  P  R  H  A  P  V  V  R         p.1020

          .         .         .         .         .         .       g.53688
 ACTCCTTCCATCCAGCCCAGTCTCTTGCCCCATGCAGCACCTTTTGCTAAATCTCACCTG       c.3120
 T  P  S  I  Q  P  S  L  L  P  H  A  A  P  F  A  K  S  H  L         p.1040

          .         .         .        | 23.         .         .    g.54889
 GTTCATGGTTCTTCACCTGGTGTGATGGGAACTTCAG | TGGCTACATCTGCTAGCAAAATT    c.3180
 V  H  G  S  S  P  G  V  M  G  T  S  V |   A  T  S  A  S  K  I      p.1060

          .         .         .         .         .         .       g.54949
 ATTCCTCAAGGGGCCGATAGCACAATGCTTGCCACGAAAACCGTGAAACATGGTGCACCT       c.3240
 I  P  Q  G  A  D  S  T  M  L  A  T  K  T  V  K  H  G  A  P         p.1080

          .         .         .         .         .         .       g.55009
 AGTCCTTCCCACCCCATCTCAGCCCCGCAGGCAGCTGCCGCAGCAGCACTCAGGCGGCAG       c.3300
 S  P  S  H  P  I  S  A  P  Q  A  A  A  A  A  A  L  R  R  Q         p.1100

          .          | 24        .         .         .         .    g.57758
 ATGGCCAGTCAGGCACCAG | CTGTAAACACTTTGACTGAATCAACGTTGAAGAATGTCCCT    c.3360
 M  A  S  Q  A  P  A |   V  N  T  L  T  E  S  T  L  K  N  V  P      p.1120

          .         .         .         .         .          | 25    g.66696
 CAAGTGGTAAATGTGCAGGAATTGAAGAATAACCCTGCAACCCCTTCTACAGCCATGGG | T    c.3420
 Q  V  V  N  V  Q  E  L  K  N  N  P  A  T  P  S  T  A  M  G  |      p.1140

          .         .         .         .         .         .       g.66756
 TCTTCAGTGCCCTACTCCACAGCCAAAACACCTCACCCAGTGTTGACCCCAGTGGCTGCT       c.3480
 S  S  V  P  Y  S  T  A  K  T  P  H  P  V  L  T  P  V  A  A         p.1160

          .      | 26  .         .         .         .         .    g.68504
 AACCAAGCCAAGCAG | GGGTCTCTAATAAATTCCCTTAAGCCATCTGGGCCTACACCAGCA    c.3540
 N  Q  A  K  Q   | G  S  L  I  N  S  L  K  P  S  G  P  T  P  A      p.1180

          .         .         .     | 27   .         .         .    g.71640
 TCCGGTCAGTTATCATCTGGTGACAAAGCTTCAG | GGACAGCCAAGATAGAAACAGCTGTG    c.3600
 S  G  Q  L  S  S  G  D  K  A  S  G |   T  A  K  I  E  T  A  V      p.1200

          .         .         .         .         .          | 28    g.74640
 ACTTCAACCCCATCTGCTTCTGGGCAGTTCAGCAAGCCTTTCTCATTTTCTCCATCAGG | G    c.3660
 T  S  T  P  S  A  S  G  Q  F  S  K  P  F  S  F  S  P  S  G  |      p.1220

          .         .         .         .         .         .       g.74700
 ACTGGCTTTAATTTTGGGATAATCACACCAACACCGTCTTCTAATTTCACTGCTGCACAA       c.3720
 T  G  F  N  F  G  I  I  T  P  T  P  S  S  N  F  T  A  A  Q         p.1240

   | 29      .         .         .         .         .         .    g.76681
 G | GGGCAACACCCTCCACTAAAGAGTCAAGCCAGCCGGACGCATTCTCATCTGGTGGGGGA    c.3780
 G |   A  T  P  S  T  K  E  S  S  Q  P  D  A  F  S  S  G  G  G      p.1260

          .         .         .         .         .         .       g.76741
 AGCAAACCTTCTTATGAGGCCATTCCTGAAAGCTCACCTCCCTCAGGAATCACATCCGCA       c.3840
 S  K  P  S  Y  E  A  I  P  E  S  S  P  P  S  G  I  T  S  A         p.1280

          .         .         .         .         .         .       g.76801
 TCAAACACCACCCCAGGAGAACCTGCCGCATCTAGCAGCAGACCTGTGGCACCTTCTGGA       c.3900
 S  N  T  T  P  G  E  P  A  A  S  S  S  R  P  V  A  P  S  G         p.1300

          .         .         .         .         .         .       g.76861
 ACTGCTCTTTCCACCACCTCTAGTAAGCTGGAAACCCCACCGTCCAAGCTGGGAGAGCTT       c.3960
 T  A  L  S  T  T  S  S  K  L  E  T  P  P  S  K  L  G  E  L         p.1320

          .         .         .         .         .         .       g.76921
 CTGTTTCCAAGTTCTTTGGCTGGAGAGACTCTGGGAAGTTTTTCAGGACTGCGGGTTGGC       c.4020
 L  F  P  S  S  L  A  G  E  T  L  G  S  F  S  G  L  R  V  G         p.1340

          .         .         .         .         .         .       g.76981
 CAAGCAGATGATTCTACAAAACCAACCAATAAGGCTTCATCCACAAGCCTAACTAGTACC       c.4080
 Q  A  D  D  S  T  K  P  T  N  K  A  S  S  T  S  L  T  S  T         p.1360

          .         .         .         .         .         .       g.77041
 CAGCCAACCAAGACGTCAGGCGTGCCCTCAGGGTTTAATTTTACTGCCCCCCCGGTGTTA       c.4140
 Q  P  T  K  T  S  G  V  P  S  G  F  N  F  T  A  P  P  V  L         p.1380

          .         .         .         .         .         .       g.77101
 GGGAAGCACACGGAGCCCCCTGTGACATCCTCTGCAACCACCACCTCAGTAGCACCACCA       c.4200
 G  K  H  T  E  P  P  V  T  S  S  A  T  T  T  S  V  A  P  P         p.1400

          .         .         .         .         .         .       g.77161
 GCAGCCACCAGCACTTCCTCAACTGCCGTTTTTGGCAGTCTGCCAGTCACCAGTGCAGGA       c.4260
 A  A  T  S  T  S  S  T  A  V  F  G  S  L  P  V  T  S  A  G         p.1420

          .         .         .         .         .         .       g.77221
 TCCTCTGGGGTCATCAGTTTTGGTGGGACATCTCTAAGTGCTGGCAAGACTAGTTTTTCA       c.4320
 S  S  G  V  I  S  F  G  G  T  S  L  S  A  G  K  T  S  F  S         p.1440

          .         .         .         .         .         .       g.77281
 TTTGGAAGCCAACAGACCAATAGCACAGTGCCCCCATCTGCCCCACCACCAACTACAGCT       c.4380
 F  G  S  Q  Q  T  N  S  T  V  P  P  S  A  P  P  P  T  T  A         p.1460

          .         .         .         .         .         .       g.77341
 GCCACTCCCCTTCCAACATCATTCCCCACATTGTCATTTGGTAGCCTCCTGAGTTCAGCA       c.4440
 A  T  P  L  P  T  S  F  P  T  L  S  F  G  S  L  L  S  S  A         p.1480

          .         .         .         .         .         .       g.77401
 ACTACCCCCTCCCTGCCTATGTCCGCTGGCAGAAGCACAGAAGAGGCCACTTCATCAGCT       c.4500
 T  T  P  S  L  P  M  S  A  G  R  S  T  E  E  A  T  S  S  A         p.1500

          .         .         .         .         .         .       g.77461
 TTGCCTGAGAAGCCAGGTGACAGTGAGGTCTCAGCATCAGCAGCCTCACTTCTAGAGGAG       c.4560
 L  P  E  K  P  G  D  S  E  V  S  A  S  A  A  S  L  L  E  E         p.1520

          .         .         .         .         .         .       g.77521
 CAACAGTCAGCCCAGCTTCCCCAGGCTCCTCCGCAAACTTCTGACTCTGTTAAAAAAGAA       c.4620
 Q  Q  S  A  Q  L  P  Q  A  P  P  Q  T  S  D  S  V  K  K  E         p.1540

          .         .         .         .         .         .       g.77581
 CCTGTTCTTGCCCAGCCTGCAGTCAGCAACTCTGGCACTGCAGCATCTAGTACTAGTCTT       c.4680
 P  V  L  A  Q  P  A  V  S  N  S  G  T  A  A  S  S  T  S  L         p.1560

          .         .         .         .         .         .       g.77641
 GTAGCACTTTCTGCAGAGGCTACCCCAGCCACCACGGGGGTCCCTGATGCCAGGACGGAG       c.4740
 V  A  L  S  A  E  A  T  P  A  T  T  G  V  P  D  A  R  T  E         p.1580

          .         .         .         .         .         .       g.77701
 GCAGTACCACCTGCTTCCTCCTTTTCTGTGCCTGGGCAGACTGCTGTCACAGCAGCTGCT       c.4800
 A  V  P  P  A  S  S  F  S  V  P  G  Q  T  A  V  T  A  A  A         p.1600

          .         .         .         .         .         .       g.77761
 ATCTCAAGTGCAGGCCCTGTGGCCGTCGAAACATCAAGTACCCCCATAGCCTCCAGCACC       c.4860
 I  S  S  A  G  P  V  A  V  E  T  S  S  T  P  I  A  S  S  T         p.1620

          .         .         .         .         .         .       g.77821
 ACGTCCATTGTTGCTCCCGGCCCATCTGCAGAGGCAGCAGCATTTGGTACCGTCACTTCT       c.4920
 T  S  I  V  A  P  G  P  S  A  E  A  A  A  F  G  T  V  T  S         p.1640

          .         .         .         .         .         .       g.77881
 GGCTCATCCGTCTTTGCTCAGCCTCCTGCTGCCAGTTCTAGCTCAGCTTTCAACCAGCTC       c.4980
 G  S  S  V  F  A  Q  P  P  A  A  S  S  S  S  A  F  N  Q  L         p.1660

          .         .         .         .         .         .       g.77941
 ACCAACAACACAGCCACTGCCCCCTCTGCCACGCCCGTGTTTGGGCAAGTGGCAGCCAGC       c.5040
 T  N  N  T  A  T  A  P  S  A  T  P  V  F  G  Q  V  A  A  S         p.1680

          .         .         .         .         .         .       g.78001
 ACCGCACCAAGTCTGTTTGGGCAGCAGACTGGTAGCACAGCCAGCACAGCAGCTGCCACA       c.5100
 T  A  P  S  L  F  G  Q  Q  T  G  S  T  A  S  T  A  A  A  T         p.1700

          .         .         .         .         .         .       g.78061
 CCACAGGTCAGCAGCTCAGGGTTTAGCAGCCCAGCTTTTGGTACCACAGCCCCAGGGGTC       c.5160
 P  Q  V  S  S  S  G  F  S  S  P  A  F  G  T  T  A  P  G  V         p.1720

          .         .         .         .         .         .       g.78121
 TTTGGACAGACAACCTTCGGGCAGGCCTCAGTCTTTGGGCAGTCGGCGAGCAGTGCTGCA       c.5220
 F  G  Q  T  T  F  G  Q  A  S  V  F  G  Q  S  A  S  S  A  A         p.1740

          .         .         .         .         .         .       g.78181
 AGTGTCTTTTCCTTCAGTCAGCCTGGGTTCAGTTCCGTGCCTGCCTTCGGTCAGCCTGCT       c.5280
 S  V  F  S  F  S  Q  P  G  F  S  S  V  P  A  F  G  Q  P  A         p.1760

          .         .         .         .         .         .       g.78241
 TCCTCCACTCCCACATCCACCAGTGGAAGTGTCTTTGGTGCCGCCTCAAGTACCAGTAGC       c.5340
 S  S  T  P  T  S  T  S  G  S  V  F  G  A  A  S  S  T  S  S         p.1780

          .         .         .         .         .         .       g.78301
 TCCAGTTCCTTCTCATTTGGACAGTCTTCTCCCAACACAGGAGGGGGGCTGTTTGGCCAA       c.5400
 S  S  S  F  S  F  G  Q  S  S  P  N  T  G  G  G  L  F  G  Q         p.1800

          .         .         .         .         .         .       g.78361
 AGCAACGCTCCTGCTTTTGGGCAGAGTCCTGGCTTTGGACAGGGAGGCTCTGTCTTTGGT       c.5460
 S  N  A  P  A  F  G  Q  S  P  G  F  G  Q  G  G  S  V  F  G         p.1820

          .         .         .         .         .         .       g.78421
 GGTACCTCAGCTGCCACCACAACAGCAGCAACCTCTGGGTTCAGCTTTTGCCAAGCTTCA       c.5520
 G  T  S  A  A  T  T  T  A  A  T  S  G  F  S  F  C  Q  A  S         p.1840

   | 30      .         .         .         .         .         .    g.81112
 G | GTTTTGGGTCTAGTAATACTGGTTCTGTGTTTGGTCAAGCAGCCAGTACTGGTGGAATA    c.5580
 G |   F  G  S  S  N  T  G  S  V  F  G  Q  A  A  S  T  G  G  I      p.1860

          .   | 31     .         .         .         .         .    g.94666
 GTCTTTGGCCAG | CAATCATCCTCTTCCAGTGGTAGCGTGTTTGGGTCTGGAAACACTGGA    c.5640
 V  F  G  Q   | Q  S  S  S  S  S  G  S  V  F  G  S  G  N  T  G      p.1880

          .         .         .         .         .         .       g.94726
 AGAGGGGGAGGTTTCTTCAGTGGCCTTGGAGGAAAACCCAGTCAGGATGCAGCCAACAAA       c.5700
 R  G  G  G  F  F  S  G  L  G  G  K  P  S  Q  D  A  A  N  K         p.1900

          .         .         .         .          | 32        .    g.102195
 AACCCATTCAGCTCGGCCAGTGGGGGCTTTGGATCCACAGCTACCTCAA | ATACCTCTAAC    c.5760
 N  P  F  S  S  A  S  G  G  F  G  S  T  A  T  S  N |   T  S  N      p.1920

          .         .         .         .         .         .       g.102255
 CTATTTGGAAACAGTGGGGCCAAGACATTTGGTGGATTTGCCAGCTCGTCGTTTGGAGAG       c.5820
 L  F  G  N  S  G  A  K  T  F  G  G  F  A  S  S  S  F  G  E         p.1940

          .         .         .         .         .         .       g.102315
 CAGAAACCCACTGGCACTTTCAGCTCTGGAGGAGGAAGTGTGGCATCCCAAGGCTTTGGG       c.5880
 Q  K  P  T  G  T  F  S  S  G  G  G  S  V  A  S  Q  G  F  G         p.1960

          .         .   | 33     .         .         .         .    g.107604
 TTTTCCTCTCCAAACAAAACAG | GTGGCTTCGGTGCTGCTCCAGTGTTTGGCAGCCCTCCT    c.5940
 F  S  S  P  N  K  T  G |   G  F  G  A  A  P  V  F  G  S  P  P      p.1980

          .         .         .         .         .         .       g.107664
 ACTTTTGGGGGATCCCCTGGGTTTGGAGGGGTGCCAGCATTCGGTTCAGCCCCAGCCTTT       c.6000
 T  F  G  G  S  P  G  F  G  G  V  P  A  F  G  S  A  P  A  F         p.2000

          .         .         .         .         .         .       g.107724
 ACAAGCCCTCTGGGCTCGACGGGAGGCAAAGTGTTCGGAGAGGGCACTGCAGCTGCCAGC       c.6060
 T  S  P  L  G  S  T  G  G  K  V  F  G  E  G  T  A  A  A  S         p.2020

          .     | 34   .         .         .         .         .    g.110082
 GCAGGAGGATTCGG | GTTTGGGAGCAGCAGCAACACCACATCCTTCGGCACGCTCGCGAGT    c.6120
 A  G  G  F  G  |  F  G  S  S  S  N  T  T  S  F  G  T  L  A  S      p.2040

          .         .         .         .         .         .       g.110142
 CAGAATGCCCCCACTTTCGGATCACTGTCCCAACAGACTTCTGGTTTTGGGACCCAGAGT       c.6180
 Q  N  A  P  T  F  G  S  L  S  Q  Q  T  S  G  F  G  T  Q  S         p.2060

          .         .         .     | 35   .         .          | 36 g.112861
 AGCGGATTCTCTGGTTTTGGATCAGGCACAGGAG | GGTTCAGCTTTGGGTCAAATAACTC | G c.6240
 S  G  F  S  G  F  G  S  G  T  G  G |   F  S  F  G  S  N  N  S  |   p.2080

          .         .         .                                     g.112894
 TCTGTCCAGGGTTTTGGTGGCTGGCGAAGCTGA                                  c.6273
 S  V  Q  G  F  G  G  W  R  S  X                                    p.2090

          .         .         .         .         .         .       g.112954
 gggcgtgtcagcaggcctttcgatccctgggaccaaccgcatcctcagcttcttccccga       c.*60

          .         .         .         .         .         .       g.113014
 gaaatgctggagcaggctgttcagaccgacgttgccatcaaaacacatacacccagaaag       c.*120

          .         .         .         .         .         .       g.113074
 aaacaacagaaaccaaaactcacaaggcgcatgattacttgttttatatttcatgttggg       c.*180

          .         .         .         .         .         .       g.113134
 ttttccctcccactattaaacagtctgtttccgtacagaacgtatgtgggttttttcaga       c.*240

          .         .         .         .         .         .       g.113194
 tcacagccaagaagattgccccgtttctgtggctctgagaagccagcagagcctccatca       c.*300

          .         .         .         .         .         .       g.113254
 gccagaacactgtgtcttcaaggatggcatcagaagtcaccagcgtcgggtgttgataaa       c.*360

          .         .         .         .         .         .       g.113314
 cagcatcgaatgtgccgtggtctcacttggacctagcgccctccacatagggaagaggtt       c.*420

          .         .         .         .         .         .       g.113374
 gaatgctggtgggtcatctttttgaggctgaaacttggttatctcctctccttgttcttt       c.*480

          .         .         .         .         .         .       g.113434
 tagccattgtgtatcaggaccatccaaggacgcactctgcgattgagtggaggcagagga       c.*540

          .         .         .         .         .         .       g.113494
 agccactcatgccagcagcagttgagtttcagaagcagccatagcgcttttcagtacagt       c.*600

          .         .         .         .         .         .       g.113554
 acaatagtagccagcgtgaggcaggacagtgctgcgccttagccggccttggctctcatc       c.*660

          .         .         .         .         .         .       g.113614
 tccatgtggctcttgggtgccatgtgtcctactccagagaggagggggccggtcacttga       c.*720

          .         .         .         .         .         .       g.113674
 gaagacagcctttatattctgtatgtggcagtgacattggtagccacacctacccagtgt       c.*780

          .         .         .         .         .         .       g.113734
 ctactaaccacagtgcagatagcccttgggtagacccaggaagtgtgaagacagacactg       c.*840

          .         .         .         .         .         .       g.113794
 ctgttgccagacaacactagcagaacgatgctggatttgacaacagtgtttgctaggacg       c.*900

          .         .         .         .         .         .       g.113854
 gcccagagctcatcactgcagttttattagagtgcttctttatctttaatgcagtatctt       c.*960

          .         .         .         .         .         .       g.113914
 tgaggcctgtaacatcctagatagttgccatcaaacaaggaccgtctcgcattgaaaaca       c.*1020

          .         .         .         .         .         .       g.113974
 gatgtaagaatttctctttcaggcccagaatctgacagtgctttggcttgggtcatgagc       c.*1080

          .         .         .         .         .         .       g.114034
 agcggggagttgggaagagatttttttttttagagttttacatattggcaggttgtattt       c.*1140

          .         .         .         .                           g.114077
 ttttaatgttttaataaaagtttgacatgacattaattcatca                        c.*1183

 (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 Nucleoporin 214kDa 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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