neuroblastoma amplified sequence (NBAS) - coding DNA reference sequence

(used for variant description)

(last modified July 24, 2017)


This file was created to facilitate the description of sequence variants on transcript NM_015909.3 in the NBAS gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032964.1, covering NBAS transcript NM_015909.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5044
                 gattccgtagagacactcctccgctgcctgagtcctcggcgaac       c.-1

          .         .         .         .         .         .       g.5104
 ATGGCGGCCCCCGAGTCAGGGCCGGCTTTGAGTCCAGGCACTGCAGAGGGTGAGGAGGAG       c.60
 M  A  A  P  E  S  G  P  A  L  S  P  G  T  A  E  G  E  E  E         p.20

          .         .         .         .         .        | 02.    g.7717
 ACGATTCTCTATGACTTGTTGGTCAACACCGAGTGGCCACCGGAGACTGAAGTACAG | CCT    c.120
 T  I  L  Y  D  L  L  V  N  T  E  W  P  P  E  T  E  V  Q   | P      p.40

          .         .         .         .         .   | 03     .    g.9537
 AGAGGCAACCAAAAACATGGTGCATCCTTTATCATCACGAAAGCAATTCGAG | ATCGTTTA    c.180
 R  G  N  Q  K  H  G  A  S  F  I  I  T  K  A  I  R  D |   R  L      p.60

          .         .          | 04        .         .         .    g.12241
 TTATTTTTACGCCAATACATCTGGTACAG | CCCGGCACCTTTTTTGCTCCCTGATGGACTG    c.240
 L  F  L  R  Q  Y  I  W  Y  S  |  P  A  P  F  L  L  P  D  G  L      p.80

          .         .         .         .        | 05.         .    g.12888
 GTTCGCTTGGTTAATAAACAGATAAACTGGCATTTGGTACTTGCAAG | CAATGGAAAGCTT    c.300
 V  R  L  V  N  K  Q  I  N  W  H  L  V  L  A  S  |  N  G  K  L      p.100

          .         .         .      | 06  .         .         .    g.14837
 TTGGCTGCTGTTCAAGATCAGTGTGTGGAAATCAG | GTCTGCAAAAGATGATTTTACATCC    c.360
 L  A  A  V  Q  D  Q  C  V  E  I  R  |  S  A  K  D  D  F  T  S      p.120

          .          | 07        .         .         .         .    g.27033
 ATTATTGGGAAATGTCAAG | TTCCGAAAGACCCGAAACCCCAGTGGAGACGGGTAGCATGG    c.420
 I  I  G  K  C  Q  V |   P  K  D  P  K  P  Q  W  R  R  V  A  W      p.140

          .         .         .         .         .         .       g.27093
 AGTTACGATTGTACCCTACTGGCCTATGCCGAAAGCACAGGAACTGTGAGGGTGTTTGAT       c.480
 S  Y  D  C  T  L  L  A  Y  A  E  S  T  G  T  V  R  V  F  D         p.160

          .         .         .    | 08    .         .         .    g.29824
 CTCATGGGAAGTGAACTCTTTGTCATTTCCCCG | GCATCTAGTTTTATAGGTGACTTAAGC    c.540
 L  M  G  S  E  L  F  V  I  S  P   | A  S  S  F  I  G  D  L  S      p.180

          .         .         .         .         .         .       g.29884
 TATGCCATTGCTGGGTTGATATTTTTAGAATATAAAGCAAGTGCACAGTGGTCTGCAGAA       c.600
 Y  A  I  A  G  L  I  F  L  E  Y  K  A  S  A  Q  W  S  A  E         p.200

          .         .         .         .        | 09.         .    g.31720
 CTCCTGGTCATCAATTACCGAGGAGAACTTAGAAGTTACCTTGTAAG | TGTTGGAACAAAT    c.660
 L  L  V  I  N  Y  R  G  E  L  R  S  Y  L  V  S  |  V  G  T  N      p.220

          .         .         .         .         .         .       g.31780
 CAGAGCTACCAAGAAAGTCACTGTTTCAGCTTCAGTAGTCATTATCCTCATGGAATCAAC       c.720
 Q  S  Y  Q  E  S  H  C  F  S  F  S  S  H  Y  P  H  G  I  N         p.240

          .         .       | 10 .         .         .         .    g.55032
 ACAGCTATTTACCACCCTGGTCACAG | ACTTTTACTTGTTGGTGGATGTGAAACTGCTGAA    c.780
 T  A  I  Y  H  P  G  H  R  |  L  L  L  V  G  G  C  E  T  A  E      p.260

          .         .         .         .         .         .       g.55092
 GTAGGCATGTCAAAAGCTTCTAGCTGTGGCCTTTCTGCCTGGAGAGTTCTTTCAGGATCA       c.840
 V  G  M  S  K  A  S  S  C  G  L  S  A  W  R  V  L  S  G  S         p.280

          .         .         .         .      | 11  .         .    g.62150
 CCGTATTATAAGCAGGTTACTAATGGTGGAGACGGGGTTACTGCA | GTACCGAAGACACTG    c.900
 P  Y  Y  K  Q  V  T  N  G  G  D  G  V  T  A   | V  P  K  T  L      p.300

          .         .         .         .         .     | 12   .    g.77332
 GGATTATTAAGGATGTTAAGTGTCAAGTTTTACAGTCGCCAGGGACAAGAACAG | GATGGA    c.960
 G  L  L  R  M  L  S  V  K  F  Y  S  R  Q  G  Q  E  Q   | D  G      p.320

          .         .         .         .         .         .       g.77392
 ATTTTTAAGATGAGCCTTTCTCCAGATGGGATGCTCCTGGCAGCCATTCACTTCTCAGGG       c.1020
 I  F  K  M  S  L  S  P  D  G  M  L  L  A  A  I  H  F  S  G         p.340

          .         .         .         .         .         .       g.77452
 AAACTGAGCATCTGGGCGATTCCATCTCTGAAGCAACAAGGGGAATGGGGTCAAAATGAG       c.1080
 K  L  S  I  W  A  I  P  S  L  K  Q  Q  G  E  W  G  Q  N  E         p.360

     | 13    .         .         .         .         .         .    g.88116
 CAG | CCAGGCTATGATGACCTTAATCCTGATTGGAGGCTCTCTACTGAGAAGAGAAAAAAA    c.1140
 Q   | P  G  Y  D  D  L  N  P  D  W  R  L  S  T  E  K  R  K  K      p.380

         | 14.         .         .         .         .         .    g.90521
 ATCAAAG | ATAAAGAGTCCTTTTACCCACTGATAGATGTCAATTGGTGGGCAGACAGTGCA    c.1200
 I  K  D |   K  E  S  F  Y  P  L  I  D  V  N  W  W  A  D  S  A      p.400

          .         .         .         .         .         .       g.90581
 GTGACTTTAGCTCGATGCTCTGGTGCTTTAACTGTTTCATCTGTGAAAACTTTGAAGAAT       c.1260
 V  T  L  A  R  C  S  G  A  L  T  V  S  S  V  K  T  L  K  N         p.420

          .         .         .         .         .         .       g.90641
 TTACTGGGAAAATCCTGTGAATGGTTTGAACCATCACCTCAAGTCACTGCTACCCATGAT       c.1320
 L  L  G  K  S  C  E  W  F  E  P  S  P  Q  V  T  A  T  H  D         p.440

          .         .  | 15      .         .         .         .    g.92063
 GGGGGATTTTTAAGTTTGGAG | TGTGAGATTAAACTTGCCCCCAAACGATCTCGTTTGGAG    c.1380
 G  G  F  L  S  L  E   | C  E  I  K  L  A  P  K  R  S  R  L  E      p.460

          .         .         .         .         .         .       g.92123
 ACTAGAGCTGGAGAAGAAGATGAAGGAGAAGAGGATTCTGATTCTGATTATGAAATATCT       c.1440
 T  R  A  G  E  E  D  E  G  E  E  D  S  D  S  D  Y  E  I  S         p.480

          .         .         .         .         .         .       g.92183
 GCCAAGGCTCGCTACTTTGGTTATATAAAACAGGGCCTTTACTTGGTGACTGAAATGGAG       c.1500
 A  K  A  R  Y  F  G  Y  I  K  Q  G  L  Y  L  V  T  E  M  E         p.500

          .         .         .         .         .         .       g.92243
 CGATTTGCACCACCACGGAAACGCCCACGAACCATTACTAAAAACTACCGCCTTGTGAGT       c.1560
 R  F  A  P  P  R  K  R  P  R  T  I  T  K  N  Y  R  L  V  S         p.520

          .         .         .          | 16        .         .    g.93022
 TTGCGCTCCACGACACCAGAGGAACTTTATCAGAGGAAG | ATTGAAAGTGAAGAGTATGAG    c.1620
 L  R  S  T  T  P  E  E  L  Y  Q  R  K   | I  E  S  E  E  Y  E      p.540

          .         .         .         .         .         .       g.93082
 GAAGCCTTGTCCTTGGCTCATACCTACGGCCTGGATACTGACCTTGTATATCAGAGGCAG       c.1680
 E  A  L  S  L  A  H  T  Y  G  L  D  T  D  L  V  Y  Q  R  Q         p.560

          .         .         .         .      | 17  .         .    g.97830
 TGGAGGAAGTCAGCGGTCAACGTTGCTTCAATTCAGAATTATTTG | AGTAAAATAAAGAAG    c.1740
 W  R  K  S  A  V  N  V  A  S  I  Q  N  Y  L   | S  K  I  K  K      p.580

          .         .         .         .         .         .       g.97890
 CGATCCTGGGTTCTCCATGAGTGTTTGGAAAGAGTTCCTGAAAATGTGGATGCTGCAAAA       c.1800
 R  S  W  V  L  H  E  C  L  E  R  V  P  E  N  V  D  A  A  K         p.600

          .         .         .         .         .         .       g.97950
 GAACTGCTTCAGTATGGATTAAAAGGCACAGACCTGGAGGCTCTTTTAGCAATAGGGAAA       c.1860
 E  L  L  Q  Y  G  L  K  G  T  D  L  E  A  L  L  A  I  G  K         p.620

          .        | 18.         .         .         .         .    g.98587
 GGAGCAGATGATGGCAG | ATTTACATTACCTGGTGAAATAGACATTGACAGTATCTCCTAT    c.1920
 G  A  D  D  G  R  |  F  T  L  P  G  E  I  D  I  D  S  I  S  Y      p.640

          .         .         .         .         .         .       g.98647
 GAAGAGCTTTCACCACCTGATGAAGAGCCTGCCAAGAATAAAAAGGAAAAGGAGCTCAAG       c.1980
 E  E  L  S  P  P  D  E  E  P  A  K  N  K  K  E  K  E  L  K         p.660

          .         .         .         | 19         .         .    g.98963
 AAGAGACAAGAACTACTGAAATTAGTGAACTTTTCCAA | GTTGACACTGGAACAAAAGGAA    c.2040
 K  R  Q  E  L  L  K  L  V  N  F  S  K  |  L  T  L  E  Q  K  E      p.680

          .         .         .         .         .        | 20.    g.104560
 CTTTGCCGTTGTAGACGGAAGTTATTAACCTACTTAGATCGACTTGCAACATATGAG | GAA    c.2100
 L  C  R  C  R  R  K  L  L  T  Y  L  D  R  L  A  T  Y  E   | E      p.700

          .         .         .         .         .         .       g.104620
 ATCCTAGGAGTGCCTCATGCATCTGAACAGAGATATGATGCTGAATTCTTTAAGAAATTC       c.2160
 I  L  G  V  P  H  A  S  E  Q  R  Y  D  A  E  F  F  K  K  F         p.720

          .         .         .         .   | 21     .         .    g.105029
 AGAAATCAGAATATTGTTCTCTCAGCAAGAACTTATGCTCAG | GAAAGTAATGTACAAGCC    c.2220
 R  N  Q  N  I  V  L  S  A  R  T  Y  A  Q   | E  S  N  V  Q  A      p.740

          .         .         .         .         .         .       g.105089
 CTGGAAATTCTGTTTACTTACCATGGTTCCGACCTGCTTCCTCATCGCCTTGCAATTCTG       c.2280
 L  E  I  L  F  T  Y  H  G  S  D  L  L  P  H  R  L  A  I  L         p.760

          .         .         .         .         .          | 22    g.138555
 TCCAACTTTCCAGAGACCACTTCTCCACATGAATATTCTGTTTTGCTGCCCGAAGCTTG | T    c.2340
 S  N  F  P  E  T  T  S  P  H  E  Y  S  V  L  L  P  E  A  C  |      p.780

          .         .         .         .         .         .       g.138615
 TTTAACGGTGACTCCCTGATGATCATTCCTTGGCATGAACATAAACACCGAGCTAAAGAT       c.2400
 F  N  G  D  S  L  M  I  I  P  W  H  E  H  K  H  R  A  K  D         p.800

          .         .    | 23    .         .         .         .    g.141917
 TGGTGCGAGGAGTTGGCTTGCAG | AATGGTTGTTGAGCCGAATCTCCAAGATGAAAGTGAA    c.2460
 W  C  E  E  L  A  C  R  |  M  V  V  E  P  N  L  Q  D  E  S  E      p.820

          .         .         .         .         .         .       g.141977
 TTCTTGTATGCTGCACAGCCTGAGTTACTAAGGTTCAGGATGACCCAGCTTACGGTGGAG       c.2520
 F  L  Y  A  A  Q  P  E  L  L  R  F  R  M  T  Q  L  T  V  E         p.840

          .         .         .         .         .        | 24.    g.148639
 AAGGTTATGGACTGGTATCAGACCAGAGCAGAGGAAATAGAGCATTATGCTCGGCAG | GTG    c.2580
 K  V  M  D  W  Y  Q  T  R  A  E  E  I  E  H  Y  A  R  Q   | V      p.860

          .         .         .         .         .         .       g.148699
 GACTGTGCATTGTCACTTATTCGACTTGGGATGGAGCGGAATATTCCTGGTTTGCTGGTT       c.2640
 D  C  A  L  S  L  I  R  L  G  M  E  R  N  I  P  G  L  L  V         p.880

          .         .         .         .         .         .       g.148759
 CTCTGTGACAATTTGGTTACTCTGGAAACATTGGTTTATGAAGCCAGGTGTGATGTAACT       c.2700
 L  C  D  N  L  V  T  L  E  T  L  V  Y  E  A  R  C  D  V  T         p.900

          .         .         .         .         .         .       g.148819
 CTAACCCTGAAAGAACTCCAGCAGATGAAAGACATTGAAAAACTAAGATTACTGATGAAT       c.2760
 L  T  L  K  E  L  Q  Q  M  K  D  I  E  K  L  R  L  L  M  N         p.920

     | 25    .         .         .         .         .         .    g.150686
 AGT | TGTTCTGAGGATAAATATGTGACAAGTGCCTACCAGTGGATGGTTCCCTTTCTTCAT    c.2820
 S   | C  S  E  D  K  Y  V  T  S  A  Y  Q  W  M  V  P  F  L  H      p.940

          .         .         .         .         .         .       g.150746
 CGTTGTGAGAAACAGTCGCCTGGTGTGGCTAATGAGCTATTAAAAGAATATTTAGTAACT       c.2880
 R  C  E  K  Q  S  P  G  V  A  N  E  L  L  K  E  Y  L  V  T         p.960

          .         .         .         .         .        | 26.    g.164050
 TTAGCTAAAGGGGACTTAAAATTTCCCCTGAAGATATTTCAGCATTCCAAACCAGAT | CTG    c.2940
 L  A  K  G  D  L  K  F  P  L  K  I  F  Q  H  S  K  P  D   | L      p.980

          .         .         .         .         .         .       g.164110
 CAGCAAAAAATTATTCCTGATCAGGACCAACTGATGGCAATAGCACTAGAGTGCATCTAT       c.3000
 Q  Q  K  I  I  P  D  Q  D  Q  L  M  A  I  A  L  E  C  I  Y         p.1000

          .         .         .         .         .         .       g.164170
 ACCTGTGAACGAAATGATCAACTCTGTCTTTGCTATGACCTACTAGAATGTCTGCCAGAA       c.3060
 T  C  E  R  N  D  Q  L  C  L  C  Y  D  L  L  E  C  L  P  E         p.1020

          .  | 27      .         .         .         .         .    g.169922
 AGAGGATATGG | TGATAAGACAGAGGCAACCACAAAGCTTCATGACATGGTAGACCAACTG    c.3120
 R  G  Y  G  |  D  K  T  E  A  T  T  K  L  H  D  M  V  D  Q  L      p.1040

          .     | 28   .         .         .         .         .    g.172045
 GAACAAATTCTCAG | TGTGTCAGAGCTTTTGGAAAAACATGGACTCGAGAAACCAATTTCA    c.3180
 E  Q  I  L  S  |  V  S  E  L  L  E  K  H  G  L  E  K  P  I  S      p.1060

          .         .         .         .         .         .       g.172105
 TTTGTTAAAAACACTCAATCTAGCTCAGAAGAGGCACGCAAGCTGATGGTTAGATTGACG       c.3240
 F  V  K  N  T  Q  S  S  S  E  E  A  R  K  L  M  V  R  L  T         p.1080

          .        | 29.         .         .         .         .    g.183074
 AGGCACACTGGCCGGAA | GCAGCCTCCTGTCAGTGAGTCTCATTGGAGAACGTTGCTGCAA    c.3300
 R  H  T  G  R  K  |  Q  P  P  V  S  E  S  H  W  R  T  L  L  Q      p.1100

          .         .         .         .         .         .       g.183134
 GACATGTTAACTATGCAGCAGAATGTATACACATGTCTAGATTCTGATGCCTGCTATGAG       c.3360
 D  M  L  T  M  Q  Q  N  V  Y  T  C  L  D  S  D  A  C  Y  E         p.1120

  | 30       .         .         .         .         .         .    g.186577
  | ATATTTACAGAAAGCCTTCTGTGCTCTAGTCGCCTTGAAAACATCCACCTGGCTGGACAG    c.3420
  | I  F  T  E  S  L  L  C  S  S  R  L  E  N  I  H  L  A  G  Q      p.1140

          .         .         .         .         .         .       g.186637
 ATGATGCACTGCAGTGCTTGTTCAGAAAATCCTCCAGCTGGTATAGCCCATAAAGGGAAA       c.3480
 M  M  H  C  S  A  C  S  E  N  P  P  A  G  I  A  H  K  G  K         p.1160

          .         .         .         .         .         .       g.186697
 CCCCACTACAGGGTCAGCTACGAAAAGAGTATTGACTTGGTTTTGGCTGCCAGCAGAGAG       c.3540
 P  H  Y  R  V  S  Y  E  K  S  I  D  L  V  L  A  A  S  R  E         p.1180

          .         .         .         .         . | 31       .    g.191638
 TACTTCAATTCTTCTACCAACCTCACTGATAGCTGCATGGATCTAGCCAG | GTGCTGCTTA    c.3600
 Y  F  N  S  S  T  N  L  T  D  S  C  M  D  L  A  R  |  C  C  L      p.1200

          .         .         .         .         .         .       g.191698
 CAACTGATAACAGACAGACCCCCTGCCATTCAAGAGGAGCTAGATCTTATCCAAGCCGTT       c.3660
 Q  L  I  T  D  R  P  P  A  I  Q  E  E  L  D  L  I  Q  A  V         p.1220

          .         .         .         .    | 32    .         .    g.199672
 GGATGTCTTGAAGAATTTGGGGTAAAGATCCTGCCTTTGCAAG | TGCGATTGTGCCCTGAT    c.3720
 G  C  L  E  E  F  G  V  K  I  L  P  L  Q  V |   R  L  C  P  D      p.1240

          .         .         .         .         .         .       g.199732
 CGGATCAGTCTCATCAAGGAGTGTATTTCCCAGTCCCCCACATGCTATAAACAATCCACC       c.3780
 R  I  S  L  I  K  E  C  I  S  Q  S  P  T  C  Y  K  Q  S  T         p.1260

          .         .         .        | 33.         .         .    g.209955
 AAGCTTCTGGGCCTTGCTGAGCTGCTGAGGGTTGCAG | GTGAGAACCCAGAAGAAAGGCGG    c.3840
 K  L  L  G  L  A  E  L  L  R  V  A  G |   E  N  P  E  E  R  R      p.1280

          .         .         .         .         .         .       g.210015
 GGACAGGTTCTAATCCTTTTAGTGGAGCAGGCACTTCGCTTCCATGACTACAAAGCAGCC       c.3900
 G  Q  V  L  I  L  L  V  E  Q  A  L  R  F  H  D  Y  K  A  A         p.1300

          .         .         .  | 34      .         .         .    g.212667
 AGTATGCATTGTCAGGAGCTGATGGCCACAG | GTTATCCTAAAAGTTGGGATGTTTGTAGC    c.3960
 S  M  H  C  Q  E  L  M  A  T  G |   Y  P  K  S  W  D  V  C  S      p.1320

          .         .         .         .         .         .       g.212727
 CAGTTAGGACAATCAGAAGGTTACCAGGACTTGGCCACTCGTCAAGAGCTCATGGCTTTT       c.4020
 Q  L  G  Q  S  E  G  Y  Q  D  L  A  T  R  Q  E  L  M  A  F         p.1340

          .         .         .         .         .         .       g.212787
 GCTTTGACACATTGCCCTCCTAGCAGCATTGAACTTCTTTTGGCAGCTAGCAGCTCTCTG       c.4080
 A  L  T  H  C  P  P  S  S  I  E  L  L  L  A  A  S  S  S  L         p.1360

           | 35        .         .         .         .         .    g.214318
 CAGACAGAA | ATTCTTTATCAAAGAGTGAATTTCCAGATCCATCATGAAGGAGGGGAAAAT    c.4140
 Q  T  E   | I  L  Y  Q  R  V  N  F  Q  I  H  H  E  G  G  E  N      p.1380

          .         .         .          | 36        .         .    g.235604
 ATCAGTGCTTCACCATTAACTAGTAAAGCAGTACAAGAG | GATGAAGTAGGTGTTCCAGGT    c.4200
 I  S  A  S  P  L  T  S  K  A  V  Q  E   | D  E  V  G  V  P  G      p.1400

          .         .         .         .         .         .       g.235664
 AGCAATTCAGCTGACCTATTGCGCTGGACCACTGCTACCACCATGAAAGTCCTTTCCAAC       c.4260
 S  N  S  A  D  L  L  R  W  T  T  A  T  T  M  K  V  L  S  N         p.1420

          .         .         .         .         .         .       g.235724
 ACCACAACCACCACCAAAGCGGTGCTGCAGGCCGTCAGTGATGGGCAGTGGTGGAAGAAG       c.4320
 T  T  T  T  T  K  A  V  L  Q  A  V  S  D  G  Q  W  W  K  K         p.1440

          .         .        | 37.         .         .         .    g.238069
 TCTTTAACTTACCTTCGACCCCTTCAG | GGGCAAAAATGTGGTGGTGCATATCAAATCGGA    c.4380
 S  L  T  Y  L  R  P  L  Q   | G  Q  K  C  G  G  A  Y  Q  I  G      p.1460

          .         .         .         .         .         .       g.238129
 ACTACAGCCAATGAAGATCTAGAGAAACAAGGGTGTCATCCTTTTTATGAATCTGTCATC       c.4440
 T  T  A  N  E  D  L  E  K  Q  G  C  H  P  F  Y  E  S  V  I         p.1480

          .         .  | 38      .         .         .         .    g.238517
 TCAAATCCTTTTGTCGCTGAG | TCTGAAGGGACCTATGACACCTATCAGCATGTTCCAGTG    c.4500
 S  N  P  F  V  A  E   | S  E  G  T  Y  D  T  Y  Q  H  V  P  V      p.1500

          .         .         .         .         .         .       g.238577
 GAAAGCTTTGCAGAAGTATTGCTGAGAACTGGAAAATTGGCAGAGGCTAAAAATAAAGGA       c.4560
 E  S  F  A  E  V  L  L  R  T  G  K  L  A  E  A  K  N  K  G         p.1520

          .         .   | 39     .         .         .         .    g.257139
 GAAGTATTTCCAACAACTGAAG | TTCTCTTGCAACTAGCAAGTGAAGCCTTGCCAAATGAC    c.4620
 E  V  F  P  T  T  E  V |   L  L  Q  L  A  S  E  A  L  P  N  D      p.1540

          .         .         .          | 40        .         .    g.258016
 ATGACCTTGGCTCTTGCTTACCTTCTTGCCTTACCACAA | GTGTTAGATGCTAACCGGTGC    c.4680
 M  T  L  A  L  A  Y  L  L  A  L  P  Q   | V  L  D  A  N  R  C      p.1560

          .         .         .         .         .         .       g.258076
 TTTGAAAAGCAGTCCCCCTCTGCATTATCTCTCCAGCTGGCAGCGTATTACTATAGCCTC       c.4740
 F  E  K  Q  S  P  S  A  L  S  L  Q  L  A  A  Y  Y  Y  S  L         p.1580

          .         .         .         .         .        | 41.    g.273585
 CAGATCTATGCCCGATTGGCCCCATGTTTCAGGGACAAGTGCCATCCTCTTTACAGG | GCT    c.4800
 Q  I  Y  A  R  L  A  P  C  F  R  D  K  C  H  P  L  Y  R   | A      p.1600

          .         .         .         .         .         .       g.273645
 GATCCCAAAGAACTAATCAAGATGGTCACCAGGCATGTGACTCGACATGAGCACGAAGCC       c.4860
 D  P  K  E  L  I  K  M  V  T  R  H  V  T  R  H  E  H  E  A         p.1620

          .         .         .         .         .         .       g.273705
 TGGCCTGAAGACCTTATTTCACTGACCAAGCAGTTACACTGCTACAATGAACGTCTCCTG       c.4920
 W  P  E  D  L  I  S  L  T  K  Q  L  H  C  Y  N  E  R  L  L         p.1640

          .         .         .         .         .         .       g.273765
 GATTTCACTCAGGCGCAGATCCTTCAGGGCCTTCGGAAGGGTGTGGACGTGCAGCGGTTT       c.4980
 D  F  T  Q  A  Q  I  L  Q  G  L  R  K  G  V  D  V  Q  R  F         p.1660

          .         .         .         .        | 42.         .    g.279178
 ACTGCAGATGACCAGTATAAAAGGGAAACTATCCTTGGTCTGGCAGA | AACTCTAGAGGAA    c.5040
 T  A  D  D  Q  Y  K  R  E  T  I  L  G  L  A  E  |  T  L  E  E      p.1680

          .         .         .         .         .         .       g.279238
 AGCGTCTACAGCATTGCTATTTCTCTGGCACAACGTTACAGTGTCTCCCGCTGGGAAGTT       c.5100
 S  V  Y  S  I  A  I  S  L  A  Q  R  Y  S  V  S  R  W  E  V         p.1700

          .         .         .         | 43         .         .    g.289269
 TTTATGACCCATTTGGAGTTCCTCTTCACGGACAGTGG | TTTGTCCACACTAGAAATTGAA    c.5160
 F  M  T  H  L  E  F  L  F  T  D  S  G  |  L  S  T  L  E  I  E      p.1720

          .         .         .         .         .         .       g.289329
 AATAGAGCCCAAGACCTTCATCTCTTTGAGACTTTGAAGACTGATCCAGAAGCCTTTCAC       c.5220
 N  R  A  Q  D  L  H  L  F  E  T  L  K  T  D  P  E  A  F  H         p.1740

          .         .         .         .         .         .       g.289389
 CAGCACATGGTCAAGTATATTTACCCTACTATTGGTGGCTTTGATCACGAAAGGCTGCAG       c.5280
 Q  H  M  V  K  Y  I  Y  P  T  I  G  G  F  D  H  E  R  L  Q         p.1760

          .         .         .         .         .         .       g.289449
 TATTATTTCACTCTTCTGGAAAACTGTGGCTGTGCAGATTTGGGGAACTGTGCCATTAAA       c.5340
 Y  Y  F  T  L  L  E  N  C  G  C  A  D  L  G  N  C  A  I  K         p.1780

          .         .         .         .          | 44        .    g.290541
 CCAGAAACCCACATTCGACTGCTGAAGAAGTTTAAGGTTGTTGCATCAG | GTCTTAATTAC    c.5400
 P  E  T  H  I  R  L  L  K  K  F  K  V  V  A  S  G |   L  N  Y      p.1800

          .         .         .         .         .         .       g.290601
 AAAAAGCTGACAGATGAAAACATGAGTCCTCTTGAAGCATTGGAGCCAGTTCTTTCAAGT       c.5460
 K  K  L  T  D  E  N  M  S  P  L  E  A  L  E  P  V  L  S  S         p.1820

          .         .         .         .         .         .       g.290661
 CAAAATATCTTGTCTATTTCCAAACTTGTTCCCAAAATCCCTGAAAAGGATGGACAGATG       c.5520
 Q  N  I  L  S  I  S  K  L  V  P  K  I  P  E  K  D  G  Q  M         p.1840

          .         .         .         .         .         .       g.290721
 CTTTCCCCAAGCTCTCTGTACACCATCTGGTTACAGAAGTTGTTCTGGACTGGAGACCCT       c.5580
 L  S  P  S  S  L  Y  T  I  W  L  Q  K  L  F  W  T  G  D  P         p.1860

          .         .         .         .         .         .       g.290781
 CATCTCATTAAACAAGTCCCAGGCTCTTCACCGGAGTGGCTTCATGCCTATGATGTCTGC       c.5640
 H  L  I  K  Q  V  P  G  S  S  P  E  W  L  H  A  Y  D  V  C         p.1880

          .         .         .         .         .         .       g.290841
 ATGAAGTACTTTGATCGTCTCCACCCAGGTGACCTCATCACTGTGGTAGATGCAGTTACA       c.5700
 M  K  Y  F  D  R  L  H  P  G  D  L  I  T  V  V  D  A  V  T         p.1900

          .         .     | 45   .         .         .         .    g.327698
 TTTTCTCCAAAAGCTGTGACCAAG | CTGTCTGTGGAAGCCCGTAAAGAGATGACTAGAAAG    c.5760
 F  S  P  K  A  V  T  K   | L  S  V  E  A  R  K  E  M  T  R  K      p.1920

          .         .         .         .         .         .       g.327758
 GCTATTAAGACAGTCAAACATTTTATTGAGAAGCCAAGGAAAAGAAACTCAGAAGACGAA       c.5820
 A  I  K  T  V  K  H  F  I  E  K  P  R  K  R  N  S  E  D  E         p.1940

          .         .         .         .         .         .       g.327818
 GCTCAAGAAGCTAAGGATTCTAAAGTTACCTATGCAGATACTTTGAATCATCTGGAGAAA       c.5880
 A  Q  E  A  K  D  S  K  V  T  Y  A  D  T  L  N  H  L  E  K         p.1960

          .         .         .         .         .         .       g.327878
 TCACTTGCCCACCTGGAAACCCTGAGCCACAGCTTCATCCTTTCTCTGAAGAATAGTGAG       c.5940
 S  L  A  H  L  E  T  L  S  H  S  F  I  L  S  L  K  N  S  E         p.1980

     | 46    .         .         .         .         .         .    g.331658
 CAG | GAAACACTGCAAAAATACAGTCACCTCTATGATCTGTCCCGATCAGAAAAAGAGAAA    c.6000
 Q   | E  T  L  Q  K  Y  S  H  L  Y  D  L  S  R  S  E  K  E  K      p.2000

          .         .         .         .         .         .       g.331718
 CTTCATGATGAAGCTGTGGCTATTTGTTTAGATGGTCAGCCTCTAGCAATGATTCAGCAG       c.6060
 L  H  D  E  A  V  A  I  C  L  D  G  Q  P  L  A  M  I  Q  Q         p.2020

          .         .         .         .         .         .       g.331778
 CTGCTAGAGGTGGCAGTTGGCCCTCTTGACATCTCACCCAAGGATATAGTGCAGAGTGCA       c.6120
 L  L  E  V  A  V  G  P  L  D  I  S  P  K  D  I  V  Q  S  A         p.2040

          .         .       | 47 .         .         .         .    g.333871
 ATCATGAAAATAATTTCTGCATTGAG | TGGTGGCAGTGCTGACCTTGGTGGGCCAAGGGAC    c.6180
 I  M  K  I  I  S  A  L  S  |  G  G  S  A  D  L  G  G  P  R  D      p.2060

          .         .         .         .         .       | 48 .    g.347384
 CCACTGAAGGTCCTGGAAGGTGTTGTTGCAGCAGTCCACGCCAGTGTGGACAAGGG | TGAG    c.6240
 P  L  K  V  L  E  G  V  V  A  A  V  H  A  S  V  D  K  G  |  E      p.2080

          .         .         .         .         .         .       g.347444
 GAGCTGGTTTCACCTGAGGACCTGCTGGAGTGGCTGCGGCCTTTCTGTGCTGATGACGCC       c.6300
 E  L  V  S  P  E  D  L  L  E  W  L  R  P  F  C  A  D  D  A         p.2100

          .         .         .         .         .         .       g.347504
 TGGCCGGTGCGGCCCCGCATTCACGTGCTGCAGATTTTGGGGCAATCATTTCACCTGACT       c.6360
 W  P  V  R  P  R  I  H  V  L  Q  I  L  G  Q  S  F  H  L  T         p.2120

          .         .         .         .         .         .       g.347564
 GAGGAGGACAGCAAGCTCCTCGTGTTCTTTAGAACTGAAGCCATTCTCAAAGCCTCCTGG       c.6420
 E  E  D  S  K  L  L  V  F  F  R  T  E  A  I  L  K  A  S  W         p.2140

          .   | 49     .         .         .         .         .    g.375993
 CCCCAGAGACAG | GTAGACATAGCTGACATTGAGAATGAAGAGAACCGCTACTGTCTATTC    c.6480
 P  Q  R  Q   | V  D  I  A  D  I  E  N  E  E  N  R  Y  C  L  F      p.2160

          .         .         .         .         .         .       g.376053
 ATGGAACTCCTGGAATCTAGTCACCACGAGGCTGAATTTCAGCACTTGGTTTTACTTTTG       c.6540
 M  E  L  L  E  S  S  H  H  E  A  E  F  Q  H  L  V  L  L  L         p.2180

          .         .         .   | 50     .         .         .    g.379496
 CAAGCTTGGCCACCTATGAAAAGTGAATATGT | CATAACCAATAATCCATGGGTGAGACTA    c.6600
 Q  A  W  P  P  M  K  S  E  Y  V  |  I  T  N  N  P  W  V  R  L      p.2200

          .         .         .         .         .         .       g.379556
 GCTACAGTGATGCTAACCAGATGTACGATGGAGAACAAGGAAGGATTGGGGAATGAAGTT       c.6660
 A  T  V  M  L  T  R  C  T  M  E  N  K  E  G  L  G  N  E  V         p.2220

          .         .         .         .         .  | 51      .    g.387241
 TTGAAAATGTGTCGCTCTTTGTATAACACCAAGCAGATGCTGCCTGCAGAG | GGTGTGAAG    c.6720
 L  K  M  C  R  S  L  Y  N  T  K  Q  M  L  P  A  E   | G  V  K      p.2240

          .         .         .         .         .         .       g.387301
 GAGCTGTGTCTGCTGCTGCTTAACCAGTCCCTCCTGCTTCCATCTCTGAAACTTCTCCTC       c.6780
 E  L  C  L  L  L  L  N  Q  S  L  L  L  P  S  L  K  L  L  L         p.2260

          .         .         .         .         .         .       g.387361
 GAGAGCCGAGATGAGCATCTGCACGAGATGGCACTGGAGCAAATCACGGCAGTCACTACG       c.6840
 E  S  R  D  E  H  L  H  E  M  A  L  E  Q  I  T  A  V  T  T         p.2280

  | 52       .         .         .         .         .         .    g.399085
  | GTGAATGATTCCAATTGTGACCAAGAACTTCTTTCCCTGCTCCTGGATGCCAAGCTGCTG    c.6900
  | V  N  D  S  N  C  D  Q  E  L  L  S  L  L  L  D  A  K  L  L      p.2300

          .         .         .         .         .         .       g.399145
 GTGAAGTGTGTCTCCACTCCCTTCTATCCACGTATTGTTGACCACCTCTTGGCTAGCCTC       c.6960
 V  K  C  V  S  T  P  F  Y  P  R  I  V  D  H  L  L  A  S  L         p.2320

          .         .         .         .         .         .       g.399205
 CAGCAAGGGCGCTGGGATGCAGAGGAGCTGGGCAGACACCTGCGGGAGGCCGGCCATGAA       c.7020
 Q  Q  G  R  W  D  A  E  E  L  G  R  H  L  R  E  A  G  H  E         p.2340

          .         .         .         .         .         .       g.399265
 GCCGAAGCCGGGTCTCTCCTTCTGGCCGTGAGGGGGACTCACCAGGCCTTCAGAACCTTC       c.7080
 A  E  A  G  S  L  L  L  A  V  R  G  T  H  Q  A  F  R  T  F         p.2360

          .         .         .                                     g.399301
 AGTACAGCCCTCCGCGCAGCACAGCACTGGGTGTGA                               c.7116
 S  T  A  L  R  A  A  Q  H  W  V  X                                 p.2371

          .         .         .         .         .         .       g.399361
 gggccacctgtggccctgctccttagcagaaaaagcatctggagttgaatgctgttccca       c.*60

          .         .         .         .         .         .       g.399421
 gaagcaacatgtgtatctgccgattgttctccatggttccaacaaattgcaaataaaact       c.*120

          .         .                                               g.399441
 gtatggaaacgatgagcaag                                               c.*140

 (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 Neuroblastoma amplified sequence 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.

Powered by LOVD v.3.0 Build 19
©2004-2017 Leiden University Medical Center