spectrin, beta, non-erythrocytic 1 (SPTBN1) - coding DNA reference sequence

(used for variant description)

(last modified June 10, 2013)


This file was created to facilitate the description of sequence variants on transcript NM_003128.2 in the SPTBN1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_029817.1, covering SPTBN1 transcript NM_003128.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5009
                                                    ggattcctc       c.-241

 .         .         .         .         .         .                g.5069
 cagtccctccctcggccgcctctcctcccggagcgagcgcgcagccctgcgcagcagcgc       c.-181

 .         .         .         .         .         .                g.5129
 ccactggtcccgtcctgtgagccccggccccagccgcggacagacccgcggagtcgcctc       c.-121

 .         .         .         .         .         .                g.5189
 ccggcccacccgcccggccgccgaggagcgggaggaggacgggaccccggcgcccccacc       c.-61

 .         .   | 02     .         .         .         .             g.75102
 ccatccccgggag | aactctaagaaggagctgatgtggaggagcagctgagacagttcaag    c.-1

          .         .         .         .         .         .       g.75162
 ATGACGACCACAGTAGCCACAGACTATGACAACATTGAGATCCAGCAGCAGTACAGTGAT       c.60
 M  T  T  T  V  A  T  D  Y  D  N  I  E  I  Q  Q  Q  Y  S  D         p.20

          .         .         .         .         .         .       g.75222
 GTCAACAACCGCTGGGATGTCGACGACTGGGACAATGAGAACAGCTCTGCGCGGCTTTTT       c.120
 V  N  N  R  W  D  V  D  D  W  D  N  E  N  S  S  A  R  L  F         p.40

          .         .         | 03         .         .         .    g.147807
 GAGCGGTCCCGCATCAAGGCTCTGGCAG | ATGAGCGTGAAGCCGTGCAGAAGAAGACCTTC    c.180
 E  R  S  R  I  K  A  L  A  D |   E  R  E  A  V  Q  K  K  T  F      p.60

          .         .         .         .         .         .       g.147867
 ACCAAGTGGGTCAATTCCCACCTTGCCCGTGTGTCCTGCCGGATCACAGACCTGTACACT       c.240
 T  K  W  V  N  S  H  L  A  R  V  S  C  R  I  T  D  L  Y  T         p.80

          .         .         .         .         .         .       g.147927
 GACCTTCGAGATGGACGGATGCTCATCAAGCTGCTGGAGGTCCTCTCTGGAGAGAGGCTG       c.300
 D  L  R  D  G  R  M  L  I  K  L  L  E  V  L  S  G  E  R  L         p.100

  | 04       .         .         .         .         .         .    g.160904
  | CCTAAACCCACCAAGGGACGAATGCGCATCCACTGCTTAGAGAATGTGGACAAGGCCCTT    c.360
  | P  K  P  T  K  G  R  M  R  I  H  C  L  E  N  V  D  K  A  L      p.120

          .         .         .         .         .         .       g.160964
 CAGTTCCTGAAGGAGCAGAGAGTCCATCTTGAGAACATGGGGTCCCATGACATCGTGGAT       c.420
 Q  F  L  K  E  Q  R  V  H  L  E  N  M  G  S  H  D  I  V  D         p.140

          .         .         .         .         .     | 05   .    g.164896
 GGAAACCACCGGCTGACCCTTGGCCTCATCTGGACCATCATCCTGCGCTTCCAG | ATCCAG    c.480
 G  N  H  R  L  T  L  G  L  I  W  T  I  I  L  R  F  Q   | I  Q      p.160

          .         .         .         .         .         .       g.164956
 GATATCAGTGTGGAAACTGAAGACAACAAAGAGAAGAAATCTGCCAAGGATGCATTGCTG       c.540
 D  I  S  V  E  T  E  D  N  K  E  K  K  S  A  K  D  A  L  L         p.180

          .         .       | 06 .         .         .         .    g.166325
 TTGTGGTGCCAGATGAAGACAGCTGG | GTACCCCAATGTCAACATTCACAATTTCACCACT    c.600
 L  W  C  Q  M  K  T  A  G  |  Y  P  N  V  N  I  H  N  F  T  T      p.200

          .         .         .         .        | 07.         .    g.166774
 AGCTGGAGGGACGGCATGGCCTTCAATGCACTGATACACAAACACCG | GCCTGACCTGATA    c.660
 S  W  R  D  G  M  A  F  N  A  L  I  H  K  H  R  |  P  D  L  I      p.220

          .         .         .         .         .         .       g.166834
 GATTTTGACAAACTAAAGAAATCTAACGCACACTACAACCTGCAGAATGCATTTAATCTG       c.720
 D  F  D  K  L  K  K  S  N  A  H  Y  N  L  Q  N  A  F  N  L         p.240

          .         .         .         .    | 08    .         .    g.170100
 GCAGAACAGCACCTCGGCCTCACTAAACTGTTGGACCCCGAAG | ACATCAGCGTGGACCAT    c.780
 A  E  Q  H  L  G  L  T  K  L  L  D  P  E  D |   I  S  V  D  H      p.260

          .         .         .         .         .         .       g.170160
 CCTGATGAGAAGTCCATAATCACTTATGTGGTGACTTATTACCACTACTTCTCTAAGATG       c.840
 P  D  E  K  S  I  I  T  Y  V  V  T  Y  Y  H  Y  F  S  K  M         p.280

          .         .         .       | 09 .         .         .    g.171007
 AAGGCCTTAGCTGTTGAAGGAAAACGAATTGGAAAG | GTGCTTGACAATGCTATTGAAACA    c.900
 K  A  L  A  V  E  G  K  R  I  G  K   | V  L  D  N  A  I  E  T      p.300

          .         .         .         .         .         .       g.171067
 GAAAAAATGATTGAAAAGTATGAATCACTTGCCTCTGACCTTCTGGAATGGATTGAACAA       c.960
 E  K  M  I  E  K  Y  E  S  L  A  S  D  L  L  E  W  I  E  Q         p.320

          .         .         .         .         .         .       g.171127
 ACCATCATCATTCTGAACAATCGCAAATTTGCCAATTCACTGGTCGGGGTTCAACAGCAG       c.1020
 T  I  I  I  L  N  N  R  K  F  A  N  S  L  V  G  V  Q  Q  Q         p.340

          .         .         .         .     | 10   .         .    g.172178
 CTTCAGGCATTCAACACTTACCGCACTGTGGAGAAACCACCCAA | ATTTACTGAGAAGGGG    c.1080
 L  Q  A  F  N  T  Y  R  T  V  E  K  P  P  K  |  F  T  E  K  G      p.360

          .         .         .         .         .         .       g.172238
 AACTTGGAAGTGCTGCTCTTCACCATTCAGAGCAAGATGAGGGCCAACAACCAGAAGGTC       c.1140
 N  L  E  V  L  L  F  T  I  Q  S  K  M  R  A  N  N  Q  K  V         p.380

          .         .         .         .   | 11     .         .    g.173505
 TACATGCCCCGGGAGGGGAAGCTCATCTCTGACATCAACAAG | GCCTGGGAAAGACTGGAA    c.1200
 Y  M  P  R  E  G  K  L  I  S  D  I  N  K   | A  W  E  R  L  E      p.400

          .         .         .         .         .         .       g.173565
 AAAGCGGAACACGAAAGAGAACTGGCTTTGCGGAATGAGCTCATAAGACAGGAGAAACTG       c.1260
 K  A  E  H  E  R  E  L  A  L  R  N  E  L  I  R  Q  E  K  L         p.420

          .         .         .         .         .         .       g.173625
 GAACAGCTCGCCCGCAGATTTGATCGCAAGGCAGCTATGAGGGAGACTTGGCTGAGCGAA       c.1320
 E  Q  L  A  R  R  F  D  R  K  A  A  M  R  E  T  W  L  S  E         p.440

          .         .  | 12      .         .         .         .    g.174654
 AACCAGCGTCTGGTGTCTCAG | GACAACTTTGGGTTTGACCTTCCTGCAGTTGAGGCCGCC    c.1380
 N  Q  R  L  V  S  Q   | D  N  F  G  F  D  L  P  A  V  E  A  A      p.460

          .         .         .         .         .         .       g.174714
 ACAAAAAAGCACGAGGCCATTGAGACAGACATTGCCGCATACGAGGAGCGTGTGCAGGCT       c.1440
 T  K  K  H  E  A  I  E  T  D  I  A  A  Y  E  E  R  V  Q  A         p.480

          .         .         .         .         .         .       g.174774
 GTGGTAGCCGTGGCCAGGGAGCTCGAGGCCGAGAATTACCACGACATCAAGCGCATCACA       c.1500
 V  V  A  V  A  R  E  L  E  A  E  N  Y  H  D  I  K  R  I  T         p.500

          .         .         .         .         .         .       g.174834
 GCGAGGAAGGACAATGTCATCCGGCTCTGGGAATACCTACTGGAACTGCTCAGGGCCCGG       c.1560
 A  R  K  D  N  V  I  R  L  W  E  Y  L  L  E  L  L  R  A  R         p.520

          .         .         .         .         .         .       g.174894
 AGACAGCGGCTCGAGATGAACCTGGGGCTGCAGAAGATATTCCAGGAAATGCTCTACATT       c.1620
 R  Q  R  L  E  M  N  L  G  L  Q  K  I  F  Q  E  M  L  Y  I         p.540

          .         .     | 13   .         .         .         .    g.176816
 ATGGACTGGATGGATGAAATGAAG | GTGCTAGTATTGTCTCAAGACTATGGCAAACACTTA    c.1680
 M  D  W  M  D  E  M  K   | V  L  V  L  S  Q  D  Y  G  K  H  L      p.560

          .         .         .         .         .         .       g.176876
 CTTGGTGTGGAAGACCTGTTACAGAAGCACACCCTGGTTGAAGCAGACATTGGCATCCAG       c.1740
 L  G  V  E  D  L  L  Q  K  H  T  L  V  E  A  D  I  G  I  Q         p.580

          .         .         .         .         .         | 14    g.177618
 GCAGAGCGGGTGAGAGGTGTCAATGCCTCCGCCCAGAAGTTCGCAACAGACGGGGAAG | GT    c.1800
 A  E  R  V  R  G  V  N  A  S  A  Q  K  F  A  T  D  G  E  G |       p.600

          .         .         .         .         .         .       g.177678
 TACAAGCCCTGTGACCCCCAGGTGATCCGAGACCGCGTGGCCCACATGGAGTTCTGTTAT       c.1860
 Y  K  P  C  D  P  Q  V  I  R  D  R  V  A  H  M  E  F  C  Y         p.620

          .         .         .         .         .         .       g.177738
 CAAGAGCTTTGCCAGCTGGCGGCTGAGCGCAGGGCCCGTCTGGAAGAGTCCCGCCGCCTC       c.1920
 Q  E  L  C  Q  L  A  A  E  R  R  A  R  L  E  E  S  R  R  L         p.640

          .         .         .         .         .         .       g.177798
 TGGAAGTTCTTCTGGGAGATGGCAGAAGAGGAAGGCTGGATACGGGAGAAGGAGAAGATC       c.1980
 W  K  F  F  W  E  M  A  E  E  E  G  W  I  R  E  K  E  K  I         p.660

          .         .         .         .         .         .       g.177858
 CTGTCCTCGGACGATTACGGGAAAGACCTGACCAGCGTCATGCGCCTGCTCAGCAAGCAC       c.2040
 L  S  S  D  D  Y  G  K  D  L  T  S  V  M  R  L  L  S  K  H         p.680

          .         .         .         .         .         .       g.177918
 CGGGCGTTCGAGGACGAGATGAGCGGCCGCAGTGGCCACTTTGAGCAGGCCATCAAGGAA       c.2100
 R  A  F  E  D  E  M  S  G  R  S  G  H  F  E  Q  A  I  K  E         p.700

          .         .         .         .         .         .       g.177978
 GGCGAAGACATGATCGCGGAGGAGCACTTCGGGTCGGAGAAGATCCGTGAGAGGATCATT       c.2160
 G  E  D  M  I  A  E  E  H  F  G  S  E  K  I  R  E  R  I  I         p.720

          .         .         .         .         .         .       g.178038
 TACATCCGGGAGCAGTGGGCCAACCTAGAGCAGCTCTCGGCCATTCGGAAGAAGCGCCTG       c.2220
 Y  I  R  E  Q  W  A  N  L  E  Q  L  S  A  I  R  K  K  R  L         p.740

          .         .         .         .         .         .       g.178098
 GAGGAGGCCTCCCTGCTGCACCAGTTCCAGGCAGATGCTGATGACATTGATGCCTGGATG       c.2280
 E  E  A  S  L  L  H  Q  F  Q  A  D  A  D  D  I  D  A  W  M         p.760

          .         .         .         .         .         .       g.178158
 CTGGACATCCTCAAGATTGTCTCCAGCAGCGACGTGGGCCACGATGAGTATTCCACACAG       c.2340
 L  D  I  L  K  I  V  S  S  S  D  V  G  H  D  E  Y  S  T  Q         p.780

          .         .         .         .         .         .       g.178218
 TCTCTGGTCAAGAAACACAAGGACGTGGCGGAAGAGATCGCCAATTACAGGCCCACCCTT       c.2400
 S  L  V  K  K  H  K  D  V  A  E  E  I  A  N  Y  R  P  T  L         p.800

          .         .         .         .         .         .       g.178278
 GACACGCTGCACGAACAAGCCAGCGCCCTCCCCCAGGAGCATGCCGAGTCTCCAGACGTG       c.2460
 D  T  L  H  E  Q  A  S  A  L  P  Q  E  H  A  E  S  P  D  V         p.820

          .         .         .         .         .         .       g.178338
 AGGGGCAGGCTGTCGGGCATCGAGGAGCGGTATAAGGAGGTGGCAGAGCTGACGCGGCTG       c.2520
 R  G  R  L  S  G  I  E  E  R  Y  K  E  V  A  E  L  T  R  L         p.840

          .         .         .         .         .         .       g.178398
 CGGAAGCAGGCACTCCAGGACACTCTGGCCCTGTACAAGATGTTCAGCGAGGCTGATGCC       c.2580
 R  K  Q  A  L  Q  D  T  L  A  L  Y  K  M  F  S  E  A  D  A         p.860

          .         .         .         .         .         .       g.178458
 TGTGAGCTCTGGATCGACGAGAAGGAGCAGTGGCTCAACAACATGCAGATCCCAGAGAAG       c.2640
 C  E  L  W  I  D  E  K  E  Q  W  L  N  N  M  Q  I  P  E  K         p.880

          .         .          | 15        .         .         .    g.178606
 CTGGAGGATCTGGAGGTCATCCAGCACAG | ATTTGAGAGCCTAGAACCAGAAATGAACAAC    c.2700
 L  E  D  L  E  V  I  Q  H  R  |  F  E  S  L  E  P  E  M  N  N      p.900

          .         .         .         .         .         .       g.178666
 CAGGCTTCCCGGGTTGCAGTGGTGAACCAGATTGCACGCCAGCTGATGCACAGCGGCCAC       c.2760
 Q  A  S  R  V  A  V  V  N  Q  I  A  R  Q  L  M  H  S  G  H         p.920

          .         .         .         .        | 16.         .    g.179551
 CCAAGTGAGAAGGAAATCAAAGCCCAGCAGGACAAACTCAACACAAG | GTGGAGCCAGTTC    c.2820
 P  S  E  K  E  I  K  A  Q  Q  D  K  L  N  T  R  |  W  S  Q  F      p.940

          .         .         .         .         .         .       g.179611
 AGAGAACTGGTTGACAGGAAGAAGGATGCCCTCCTGTCTGCCCTGAGCATCCAGAACTAC       c.2880
 R  E  L  V  D  R  K  K  D  A  L  L  S  A  L  S  I  Q  N  Y         p.960

          .         .         .         .         .         .       g.179671
 CACCTCGAGTGCAATGAAACCAAATCCTGGATTCGGGAAAAGACCAAGGTCATCGAGTCC       c.2940
 H  L  E  C  N  E  T  K  S  W  I  R  E  K  T  K  V  I  E  S         p.980

          .         .         .         .         .         .       g.179731
 ACCCAGGACCTGGGCAATGACCTGGCTGGCGTCATGGCCCTGCAGCGCAAGCTGACCGGC       c.3000
 T  Q  D  L  G  N  D  L  A  G  V  M  A  L  Q  R  K  L  T  G         p.1000

          .         .         .         .         .         .       g.179791
 ATGGAGCGGGACTTGGTGGCCATTGAGGCAAAGCTGAGTGACCTGCAGAAGGAGGCGGAG       c.3060
 M  E  R  D  L  V  A  I  E  A  K  L  S  D  L  Q  K  E  A  E         p.1020

          .         .         .         .         .         .       g.179851
 AAGCTGGAGTCCGAGCACCCCGACCAGGCCCAGGCCATCCTGTCTCGGCTGGCCGAGATC       c.3120
 K  L  E  S  E  H  P  D  Q  A  Q  A  I  L  S  R  L  A  E  I         p.1040

          .         .         .         .         .         .       g.179911
 AGCGACGTGTGGGAGGAGATGAAGACCACCCTGAAAAACCGAGAGGCCTCCCTGGGAGAG       c.3180
 S  D  V  W  E  E  M  K  T  T  L  K  N  R  E  A  S  L  G  E         p.1060

          .         .         .         .         .         .       g.179971
 GCCAGCAAGCTGCAGCAGTTCCTACGGGACTTGGACGACTTCCAGTCCTGGCTCTCTAGG       c.3240
 A  S  K  L  Q  Q  F  L  R  D  L  D  D  F  Q  S  W  L  S  R         p.1080

          .         .         .         .         .         .       g.180031
 ACCCAGACAGCGATCGCCTCGGAGGACATGCCAAACACCCTGACCGAGGCTGAGAAGCTG       c.3300
 T  Q  T  A  I  A  S  E  D  M  P  N  T  L  T  E  A  E  K  L         p.1100

          .         .         .         .         .         .       g.180091
 CTCACGCAGCACGAGAACATCAAGAACGAGATCGACAACTACGAGGAGGACTACCAGAAG       c.3360
 L  T  Q  H  E  N  I  K  N  E  I  D  N  Y  E  E  D  Y  Q  K         p.1120

          .         .         .         .         .         .       g.180151
 ATGAGGGACATGGGCGAGATGGTCACCCAGGGGCAGACCGATGCCCAGTACATGTTTCTG       c.3420
 M  R  D  M  G  E  M  V  T  Q  G  Q  T  D  A  Q  Y  M  F  L         p.1140

          .         .         .         .         .         .       g.180211
 CGGCAGCGGCTGCAGGCCCTGGACACTGGATGGAACGAGCTCCACAAGATGTGGGAGAAC       c.3480
 R  Q  R  L  Q  A  L  D  T  G  W  N  E  L  H  K  M  W  E  N         p.1160

          .         .         .         .         .         .       g.180271
 AGACAAAATCTCCTATCCCAGTCACATGCCTACCAGCAGTTCCTCAGAGACACGAAGCAA       c.3540
 R  Q  N  L  L  S  Q  S  H  A  Y  Q  Q  F  L  R  D  T  K  Q         p.1180

          .         .     | 17   .         .         .         .    g.181285
 GCCGAAGCCTTTCTTAACAACCAG | GAGTATGTTCTGGCTCACACTGAAATGCCTACCACC    c.3600
 A  E  A  F  L  N  N  Q   | E  Y  V  L  A  H  T  E  M  P  T  T      p.1200

          .         .         .         .         .         .       g.181345
 TTGGAAGGAGCTGAAGCAGCAATTAAAAAGCAAGAGGACTTCATGACCACCATGGACGCC       c.3660
 L  E  G  A  E  A  A  I  K  K  Q  E  D  F  M  T  T  M  D  A         p.1220

          .         .         .         .         .         .       g.181405
 AATGAGGAGAAGATCAATGCTGTGGTGGAGACTGGCCGGAGGCTGGTGAGCGATGGGAAC       c.3720
 N  E  E  K  I  N  A  V  V  E  T  G  R  R  L  V  S  D  G  N         p.1240

          .         .         .         .        | 18.         .    g.186409
 ATCAACTCAGATCGCATCCAGGAGAAGGTGGACTCTATTGATGACAG | ACATAGGAAGAAT    c.3780
 I  N  S  D  R  I  Q  E  K  V  D  S  I  D  D  R  |  H  R  K  N      p.1260

          .         .         .         .         .         .       g.186469
 CGTGAGACAGCCAGTGAACTTTTGATGAGGTTGAAGGACAACAGGGATCTACAGAAATTC       c.3840
 R  E  T  A  S  E  L  L  M  R  L  K  D  N  R  D  L  Q  K  F         p.1280

          .         | 19         .         .         .         .    g.191708
 CTGCAAGATTGTCAAGAG | CTGTCTCTCTGGATCAATGAGAAGATGCTCACAGCCCAGGAC    c.3900
 L  Q  D  C  Q  E   | L  S  L  W  I  N  E  K  M  L  T  A  Q  D      p.1300

          .         .         .         .         .         .       g.191768
 ATGTCTTACGATGAAGCCAGAAATCTGCACAGTAAATGGTTGAAGCATCAAGCATTTATG       c.3960
 M  S  Y  D  E  A  R  N  L  H  S  K  W  L  K  H  Q  A  F  M         p.1320

          .         .         .         .      | 20  .         .    g.193021
 GCAGAACTTGCATCCAACAAAGAATGGCTTGACAAAATCGAGAAG | GAAGGAATGCAGCTC    c.4020
 A  E  L  A  S  N  K  E  W  L  D  K  I  E  K   | E  G  M  Q  L      p.1340

          .         .         .         .         .         .       g.193081
 ATTTCAGAAAAGCCTGAGACGGAAGCTGTGGTGAAGGAGAAACTCACTGGTTTACATAAA       c.4080
 I  S  E  K  P  E  T  E  A  V  V  K  E  K  L  T  G  L  H  K         p.1360

          .         .         .         .         .         .       g.193141
 ATGTGGGAAGTCCTTGAATCCACTACCCAGACAAAGGCCCAGCGGCTCTTTGATGCAAAC       c.4140
 M  W  E  V  L  E  S  T  T  Q  T  K  A  Q  R  L  F  D  A  N         p.1380

          .         .         .         .         .         .       g.193201
 AAGGCCGAACTTTTCACCCAGAGCTGTGCAGATCTAGACAAATGGCTGCACGGCCTGGAG       c.4200
 K  A  E  L  F  T  Q  S  C  A  D  L  D  K  W  L  H  G  L  E         p.1400

          .         .         .         .         .         .       g.193261
 AGTCAGATTCAGTCTGATGACTATGGCAAAGACCTGACCAGTGTCAATATCCTGCTGAAA       c.4260
 S  Q  I  Q  S  D  D  Y  G  K  D  L  T  S  V  N  I  L  L  K         p.1420

           | 21        .         .         .         .         .    g.193963
 AAGCAACAG | ATGCTGGAGAATCAGATGGAAGTGCGGAAGAAGGAGATCGAAGAGCTCCAA    c.4320
 K  Q  Q   | M  L  E  N  Q  M  E  V  R  K  K  E  I  E  E  L  Q      p.1440

          .         .         .         .         .         .       g.194023
 AGCCAAGCCCAGGCCCTGAGTCAGGAAGGGAAGAGCACCGACGAGGTAGACAGCAAGCGC       c.4380
 S  Q  A  Q  A  L  S  Q  E  G  K  S  T  D  E  V  D  S  K  R         p.1460

          .         .         .         .         .         .       g.194083
 CTCACCGTGCAGACCAAGTTCATGGAGTTGCTGGAGCCCTTGAACGAGAGGAAGCATAAC       c.4440
 L  T  V  Q  T  K  F  M  E  L  L  E  P  L  N  E  R  K  H  N         p.1480

          .         .         .         .         .     | 22   .    g.194617
 CTGCTGGCCTCCAAAGAGATCCATCAGTTCAACAGGGATGTGGAGGACGAGATC | TTGTGG    c.4500
 L  L  A  S  K  E  I  H  Q  F  N  R  D  V  E  D  E  I   | L  W      p.1500

          .         .         .         .         .         .       g.194677
 GTTGGAGAGAGGATGCCTTTGGCAACTTCCACGGATCATGGCCACAACCTCCAGACTGTG       c.4560
 V  G  E  R  M  P  L  A  T  S  T  D  H  G  H  N  L  Q  T  V         p.1520

          .         .     | 23   .         .         .         .    g.194913
 CAGCTGTTAATAAAGAAAAATCAG | ACCCTCCAGAAAGAAATCCAGGGGCACCAGCCTCGC    c.4620
 Q  L  L  I  K  K  N  Q   | T  L  Q  K  E  I  Q  G  H  Q  P  R      p.1540

          .         .         .         .         .         .       g.194973
 ATTGACGACATCTTTGAGAGGAGCCAAAACATCGTCACTGACAGCAGCAGCCTCAGCGCT       c.4680
 I  D  D  I  F  E  R  S  Q  N  I  V  T  D  S  S  S  L  S  A         p.1560

          .         .         .         .         .         .       g.195033
 GAGGCCATCAGACAGAGGCTTGCCGACCTGAAGCAGCTGTGGGGTCTCCTCATTGAGGAG       c.4740
 E  A  I  R  Q  R  L  A  D  L  K  Q  L  W  G  L  L  I  E  E         p.1580

          .         .         .         .         .         .       g.195093
 ACAGAGAAACGCCACAGGCGGCTGGAGGAGGCGCACAGGGCCCAGCAGTACTACTTTGAC       c.4800
 T  E  K  R  H  R  R  L  E  E  A  H  R  A  Q  Q  Y  Y  F  D         p.1600

          .         .         .         .         .         .       g.195153
 GCTGCTGAGGCCGAAGCCTGGATGAGCGAGCAGGAGCTGTACATGATGTCAGAGGAGAAG       c.4860
 A  A  E  A  E  A  W  M  S  E  Q  E  L  Y  M  M  S  E  E  K         p.1620

        | 24 .         .         .         .         .         .    g.195868
 GCCAAG | GATGAGCAGAGTGCTGTCTCCATGTTGAAGAAGCACCAGATCTTAGAACAAGCT    c.4920
 A  K   | D  E  Q  S  A  V  S  M  L  K  K  H  Q  I  L  E  Q  A      p.1640

          .         .         .         .         .         .       g.195928
 GTGGAGGACTATGCAGAGACCGTGCATCAGCTCTCCAAGACCAGCCGGGCCCTGGTGGCC       c.4980
 V  E  D  Y  A  E  T  V  H  Q  L  S  K  T  S  R  A  L  V  A         p.1660

          .        | 25.         .         .         .         .    g.197712
 GACAGCCATCCTGAAAG | TGAGCGCATTAGCATGCGGCAGTCCAAAGTGGATAAACTGTAC    c.5040
 D  S  H  P  E  S  |  E  R  I  S  M  R  Q  S  K  V  D  K  L  Y      p.1680

          .         .         .         .         .         .       g.197772
 GCTGGTCTGAAAGACCTTGCTGAAGAGAGAAGAGGCAAGCTGGATGAGAGACACAGGTTA       c.5100
 A  G  L  K  D  L  A  E  E  R  R  G  K  L  D  E  R  H  R  L         p.1700

          .         .         .         .         .         .       g.197832
 TTCCAGCTCAACCGGGAGGTGGACGACCTGGAGCAGTGGATCGCTGAGAGGGAGGTGGTC       c.5160
 F  Q  L  N  R  E  V  D  D  L  E  Q  W  I  A  E  R  E  V  V         p.1720

          .         .         .         .   | 26     .         .    g.198316
 GCAGGGTCCCATGAACTGGGACAGGACTATGAGCATGTCACG | ATGTTACAAGAACGATTC    c.5220
 A  G  S  H  E  L  G  Q  D  Y  E  H  V  T   | M  L  Q  E  R  F      p.1740

          .         .         .         .         .         .       g.198376
 CGGGAGTTTGCCCGAGACACCGGGAACATTGGGCAGGAGCGCGTGGACACGGTCAATCAC       c.5280
 R  E  F  A  R  D  T  G  N  I  G  Q  E  R  V  D  T  V  N  H         p.1760

          .         .         .         .         .         .       g.198436
 CTGGCAGATGAGCTCATCAACTCTGGACATTCAGATGCCGCCACCATCGCTGAATGGAAG       c.5340
 L  A  D  E  L  I  N  S  G  H  S  D  A  A  T  I  A  E  W  K         p.1780

          .         .         .         .         .         .       g.198496
 GATGGCCTCAATGAAGCCTGGGCCGACCTCCTGGAGCTCATTGACACAAGAACACAGATT       c.5400
 D  G  L  N  E  A  W  A  D  L  L  E  L  I  D  T  R  T  Q  I         p.1800

          .         .         .         .         .         .       g.198556
 CTTGCCGCTTCCTATGAACTGCACAAGTTTTACCACGATGCCAAGGAGATCTTTGGGCGT       c.5460
 L  A  A  S  Y  E  L  H  K  F  Y  H  D  A  K  E  I  F  G  R         p.1820

          .         .         .         .         .         .       g.198616
 ATACAGGACAAACACAAGAAACTCCCTGAGGAGCTTGGGAGAGATCAGAACACAGTGGAG       c.5520
 I  Q  D  K  H  K  K  L  P  E  E  L  G  R  D  Q  N  T  V  E         p.1840

          .         .         .         .         .        | 27.    g.202295
 ACCTTACAGAGAATGCACACTACATTTGAGCATGACATCCAGGCTCTGGGCACACAG | GTG    c.5580
 T  L  Q  R  M  H  T  T  F  E  H  D  I  Q  A  L  G  T  Q   | V      p.1860

          .         .         .         .         .         .       g.202355
 AGGCAGCTGCAGGAGGATGCAGCCCGCCTCCAGGCGGCCTATGCGGGTGACAAGGCCGAC       c.5640
 R  Q  L  Q  E  D  A  A  R  L  Q  A  A  Y  A  G  D  K  A  D         p.1880

          .         .         .         .         .         .       g.202415
 GATATCCAGAAGCGCGAGAACGAGGTCCTGGAAGCCTGGAAGTCCCTCCTGGACGCCTGT       c.5700
 D  I  Q  K  R  E  N  E  V  L  E  A  W  K  S  L  L  D  A  C         p.1900

          .         .         .         .         .         .       g.202475
 GAGAGCCGCAGGGTGCGGCTGGTGGACACAGGGGACAAGTTCCGCTTCTTCAGCATGGTG       c.5760
 E  S  R  R  V  R  L  V  D  T  G  D  K  F  R  F  F  S  M  V         p.1920

          .         .         .         .         .         .       g.202535
 CGCGACCTCATGCTCTGGATGGAGGATGTCATCCGGCAGATCGAGGCCCAGGAGAAGCCA       c.5820
 R  D  L  M  L  W  M  E  D  V  I  R  Q  I  E  A  Q  E  K  P         p.1940

    | 28     .         .         .         .         .         .    g.203811
 AG | GGATGTATCATCTGTTGAACTCTTAATGAATAATCATCAAGGCATCAAAGCTGAAATT    c.5880
 R  |  D  V  S  S  V  E  L  L  M  N  N  H  Q  G  I  K  A  E  I      p.1960

          .         .         .         .         .         .       g.203871
 GATGCACGTAATGACAGTTTCACAACCTGCATTGAACTTGGGAAATCCCTGTTGGCGAGA       c.5940
 D  A  R  N  D  S  F  T  T  C  I  E  L  G  K  S  L  L  A  R         p.1980

          .         .  | 29      .         .         .         .    g.204636
 AAACACTATGCATCTGAGGAG | ATCAAGGAAAAATTACTGCAGTTGACGGAAAAGAGGAAA    c.6000
 K  H  Y  A  S  E  E   | I  K  E  K  L  L  Q  L  T  E  K  R  K      p.2000

          .         .         .         .       | 30 .         .    g.206547
 GAAATGATCGACAAGTGGGAAGACCGATGGGAATGGTTAAGACTGA | TTCTGGAGGTCCAT    c.6060
 E  M  I  D  K  W  E  D  R  W  E  W  L  R  L  I |   L  E  V  H      p.2020

          .         .         .         .         .         .       g.206607
 CAGTTCTCAAGAGACGCCAGTGTGGCCGAGGCCTGGCTGCTTGGACAGGAGCCGTACCTA       c.6120
 Q  F  S  R  D  A  S  V  A  E  A  W  L  L  G  Q  E  P  Y  L         p.2040

          .         .         .         .         .         .       g.206667
 TCCAGCCGAGAGATAGGCCAGAGCGTGGACGAGGTGGAGAAGCTCATCAAGCGCCACGAG       c.6180
 S  S  R  E  I  G  Q  S  V  D  E  V  E  K  L  I  K  R  H  E         p.2060

          .         .         .         .         .         .       g.206727
 GCATTTGAAAAGTCTGCAGCAACCTGGGATGAGAGGTTCTCTGCCCTGGAAAGGCTGACT       c.6240
 A  F  E  K  S  A  A  T  W  D  E  R  F  S  A  L  E  R  L  T         p.2080

     | 31    .         .         .         .         .         .    g.207894
 ACA | TTGGAGTTACTGGAAGTGCGCAGACAGCAAGAGGAAGAGGAGAGGAAGAGGCGGCCG    c.6300
 T   | L  E  L  L  E  V  R  R  Q  Q  E  E  E  E  R  K  R  R  P      p.2100

          .         .         .         .         .       | 32 .    g.208623
 CCTTCTCCCGAGCCGAGCACGAAGGTTTCAGAGGAAGCCGAGTCCCAGCAGCAGTG | GGAT    c.6360
 P  S  P  E  P  S  T  K  V  S  E  E  A  E  S  Q  Q  Q  W  |  D      p.2120

          .         .         .         .         .         .       g.208683
 ACTTCAAAAGGAGAACAAGTTTCCCAAAACGGTTTGCCAGCTGAACAGGGATCTCCACGG       c.6420
 T  S  K  G  E  Q  V  S  Q  N  G  L  P  A  E  Q  G  S  P  R         p.2140

  | 33       .         .         .         .         .         .    g.213196
  | ATGGCAGAAACGGTGGACACAAGCGAAATGGTCAACGGCGCTACAGAACAAAGGACGAGC    c.6480
  | M  A  E  T  V  D  T  S  E  M  V  N  G  A  T  E  Q  R  T  S      p.2160

          .         .         .         .         .         .       g.213256
 TCTAAAGAGTCCAGCCCCATCCCCTCCCCGACCTCTGATCGTAAAGCCAAGACTGCCCTC       c.6540
 S  K  E  S  S  P  I  P  S  P  T  S  D  R  K  A  K  T  A  L         p.2180

          .         .         .         .         .         .       g.213316
 CCAGCCCAGAGTGCCGCCACCTTACCAGCCAGAACCCAGGAGACACCTTCGGCCCAGATG       c.6600
 P  A  Q  S  A  A  T  L  P  A  R  T  Q  E  T  P  S  A  Q  M         p.2200

          .         .         .         .         .          | 34    g.214599
 GAAGGCTTCCTCAATCGGAAACACGAGTGGGAGGCCCACAATAAGAAAGCCTCAAGCAG | G    c.6660
 E  G  F  L  N  R  K  H  E  W  E  A  H  N  K  K  A  S  S  R  |      p.2220

          .         .         .         .         .         .       g.214659
 TCCTGGCACAATGTTTATTGTGTCATAAATAACCAAGAAATGGGTTTCTACAAAGATGCA       c.6720
 S  W  H  N  V  Y  C  V  I  N  N  Q  E  M  G  F  Y  K  D  A         p.2240

          .         .         .         .         .         .       g.214719
 AAGACTGCTGCTTCTGGAATTCCCTACCACAGCGAGGTCCCTGTGAGTTTGAAAGAAGCT       c.6780
 K  T  A  A  S  G  I  P  Y  H  S  E  V  P  V  S  L  K  E  A         p.2260

          .         .         .         .         .    | 35    .    g.216294
 GTCTGCGAAGTGGCCCTTGATTACAAAAAGAAGAAACACGTATTCAAGCTAAG | ACTAAAT    c.6840
 V  C  E  V  A  L  D  Y  K  K  K  K  H  V  F  K  L  R  |  L  N      p.2280

          .         .         .       | 36 .         .         .    g.217058
 GATGGCAATGAGTACCTCTTCCAAGCCAAAGACGAT | GAGGAAATGAACACATGGATCCAG    c.6900
 D  G  N  E  Y  L  F  Q  A  K  D  D   | E  E  M  N  T  W  I  Q      p.2300

          .         .         .         .         .         .       g.217118
 GCTATCTCTTCCGCCATCTCCTCTGATAAACACGAGGTGTCTGCCAGCACCCAGAGCACG       c.6960
 A  I  S  S  A  I  S  S  D  K  H  E  V  S  A  S  T  Q  S  T         p.2320

          .         .         .         .         .         .       g.217178
 CCAGCATCCAGCCGCGCGCAGACCCTCCCCACCAGCGTCGTCACCATCACCAGCGAGTCC       c.7020
 P  A  S  S  R  A  Q  T  L  P  T  S  V  V  T  I  T  S  E  S         p.2340

          .         .         .         .         .         .       g.217238
 AGTCCCGGCAAGCGGGAAAAGGACAAAGAGAAAGACAAAGAGAAGCGGTTCAGCCTTTTT       c.7080
 S  P  G  K  R  E  K  D  K  E  K  D  K  E  K  R  F  S  L  F         p.2360

          .                                                         g.217253
 GGCAAAAAGAAATGA                                                    c.7095
 G  K  K  K  X                                                      p.2364

          .         .         .         .         .         .       g.217313
 actcctttccttcacctcctgcccttctcttaccttttcagtgaaattccagcatgcaag       c.*60

          .         .         .         .         .         .       g.217373
 ctcagaaccaacacattactctctgtgcctaatgttcctcaatgtggttgattttttttt       c.*120

          .         .         .         .         .         .       g.217433
 ttttttaatttatagagcatttcggggggggtgggggaaacacacctaaacactttatct       c.*180

          .         .         .         .         .         .       g.217493
 ccaagttacaaaagtttgaggtgcagagggaaggccagattttttttttaatgaaattat       c.*240

          .         .         .         .         .         .       g.217553
 atagattagatctcagtatttaaactgttcctcaattttgtgaggctgtgttggaaataa       c.*300

          .         .         .         .         .         .       g.217613
 cccgcctctagtgctgttggtatgcaaggcagcggtgcttaatcaatatttcctgtgctc       c.*360

          .         .         .         .         .         .       g.217673
 accagaggcaaaatgtaccaatatcctgacaccattctctctccatttacttctggtggt       c.*420

          .         .         .         .         .         .       g.217733
 taccctgactcttgactcttagaagtgcccgagatggggctaacctttattaaacagatc       c.*480

          .         .         .         .         .         .       g.217793
 gcatattatgatcttgctgcagccacagtgcagctccacattaactctacagaccaaacc       c.*540

          .         .         .         .         .         .       g.217853
 atttgtatctggcatcacttactaacacacgacatgcggcttttctgcatcaactgctat       c.*600

          .         .         .         .         .         .       g.217913
 gacggttaagaatgtcagtatacaagaaggaatagaaaactgatactgttttaaataatc       c.*660

          .         .         .         .         .         .       g.217973
 tgtaatttcaattttttttttttgctgaaatacattatattgtacgtttgagataattct       c.*720

          .         .         .         .         .         .       g.218033
 agtacaaagtataataaaactagatgtataataaaccctttaaatcattggtaagtgtac       c.*780

          .         .         .         .         .         .       g.218093
 aagtggtggaactgaagcatttactggacaaagtaatgttactctaatggttacttgctc       c.*840

          .         .         .         .         .         .       g.218153
 gtgcgttgccacactgtgttataatttgcttcatttccttgctatttgatacatagtgtg       c.*900

          .         .         .         .         .         .       g.218213
 catttctctgtcactgtaactattgtaatgacaaattttcatcttactgcacaatcaaaa       c.*960

          .         .         .         .         .         .       g.218273
 tgacattgataggaatgaactccagaggctgggcctgaacagggaggtggtcgctcaggc       c.*1020

          .         .         .         .         .         .       g.218333
 ctggtgctcagtcgtacgacctgtacctctcaacttttgccctatctgttaaatatatgc       c.*1080

          .         .         .         .         .         .       g.218393
 tatgtcattaaatgcttttaaatctagcacggtgactagttgttgttcttcctctgctgc       c.*1140

          .         .         .         .         .         .       g.218453
 gtgtgcatgcccagtagggaaactgcaaagggagaaatgacaaacaagaaacattttaca       c.*1200

          .         .         .         .         .         .       g.218513
 accagtctgggctcacttttgcattttttatgcatgtctggtgcacaagctttgaaaact       c.*1260

          .         .         .         .         .         .       g.218573
 acagcaaacagtaataaatgtgactgttttgtagttatacattcaggctttatcttttat       c.*1320

          .         .         .         .         .         .       g.218633
 ttatgaaaaagttaccagagcacttgtgaaacctgaactctgagataggggttggcaaat       c.*1380

          .         .         .         .         .         .       g.218693
 ttgttctgtaaagggacagagatagtaaatattttaggctttgtaggccgtaactgtctc       c.*1440

          .         .         .         .         .         .       g.218753
 tgttgctcaattctgctgttgcgtaatacaaaggcagccattgacggtatgtgaatgcct       c.*1500

          .         .         .         .         .         .       g.218813
 gggcatggctgtgttccagtaaaactatttaaggacataaatttgaatttcatataactt       c.*1560

          .         .         .         .         .         .       g.218873
 tgacatgccatacaatattttgattttcttaatgatttcaaaatgtaaagtctattttat       c.*1620

          .         .         .         .         .         .       g.218933
 acagatcagaccaaaaagaagaaaaaaaaaaaacaggcaagaggttaggtttggcccatg       c.*1680

          .         .         .         .         .         .       g.218993
 ggccatagtttgctgacttcagcatagagtcgtgggttatttacaagtgacatacttttc       c.*1740

          .         .         .         .         .         .       g.219053
 ctgggttatctgggtatgttgactccatgccacttgcataaagcagcaatggatattagt       c.*1800

          .         .         .         .         .         .       g.219113
 attatggatgtccagtaagttattccacaaagaccatgcctaaggtggcatcagccctgg       c.*1860

          .         .         .         .         .         .       g.219173
 gctccacagctgcgtggcatcaaagctttctcttaactctcttacctctaggcaaactga       c.*1920

          .         .         .         .         .         .       g.219233
 gacctcaccatcctctcccctgcttcccacgacagtcctttgcccttgccatgctcaggg       c.*1980

          .         .         .         .         .         .       g.219293
 ttggaatcaagttgttctattctcaacagaccaaaatgtttagttaaggcaaagtatctt       c.*2040

          .         .         .         .         .         .       g.219353
 ggaaacaattgtgattaattacagtcttgtactcttgacaaagctgtgcagatggcaata       c.*2100

          .         .         .         .         .         .       g.219413
 agttcataccagcaatcctggagtcccataataaatacgtacatgtggaacatcgtgcac       c.*2160

          .         .         .         .         .         .       g.219473
 ataatttcaacagttcgcagatctgtagttatgaagccagggtttggtggtatttgctct       c.*2220

          .         .         .         .         .         .       g.219533
 ctcttggtgcatttgataaggatccactgaggcctgaatgtggaagatgatgggcagcga       c.*2280

          .         .         .         .         .         .       g.219593
 gaggagcgtcagaagaccccagtcaagacgtgttcgccatcagaggttacaggccgcaca       c.*2340

          .         .         .         .         .         .       g.219653
 gcctgatgagcttcaagcctggcagggtaaatagtttttgggttttttgtttttttttta       c.*2400

          .         .         .         .         .         .       g.219713
 ttcttccactatcatgttttttgaggattttgcatatttcttgttgccataatgctgtgc       c.*2460

          .         .         .         .         .         .       g.219773
 tattttaccctgattttcagtgatacaatatgggtgacaatactggcccctccataaatc       c.*2520

          .         .         .         .         .         .       g.219833
 tgaagagtaagaagtagtgaaaataaggcttaggatatgaaatggcgttgtcacttgaat       c.*2580

          .         .         .         .         .         .       g.219893
 caaggccactttttgtcctacttgagcatctcaagttgggatgcatcttctgatggcact       c.*2640

          .         .         .         .         .         .       g.219953
 tccggaactggctgtggtttttttgggtgtaccgagagtgccagtgactgtgcttcttac       c.*2700

          .         .         .         .         .         .       g.220013
 aattcctggcatcttgagtaggtgaaacactgtatcagactgggtgatgggcacattgtc       c.*2760

          .         .         .         .         .         .       g.220073
 atttcaccaagttcctggaactgttagaattgcttgtgtatggggatcctatgttagttc       c.*2820

          .         .         .         .         .                 g.220130
 ccctggatacattgttttatcagtcggaattcttaaataaagacatacttcccttca          c.*2877

 (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 Spectrin, beta, non-erythrocytic 1 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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