nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA) - coding DNA reference sequence

(used for variant description)

(last modified November 24, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_020529.2 in the NFKBIA gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_007571.1, covering NFKBIA transcript NM_020529.2.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
           .         .         .         .         .                g.5034
           agcccacagcagtccgtgccgccgtcccgcccgccagcgccccagcgagg       c.-61

 .         .         .         .         .         .                g.5094
 aagcagcgcgcagcccgcggcccagcgcacccgcagcagcgcccgcagctcgtccgcgcc       c.-1

          .         .         .         .         .         .       g.5154
 ATGTTCCAGGCGGCCGAGCGCCCCCAGGAGTGGGCCATGGAGGGCCCCCGCGACGGGCTG       c.60
 M  F  Q  A  A  E  R  P  Q  E  W  A  M  E  G  P  R  D  G  L         p.20

          .         .         .         .         .         .       g.5214
 AAGAAGGAGCGGCTACTGGACGACCGCCACGACAGCGGCCTGGACTCCATGAAAGACGAG       c.120
 K  K  E  R  L  L  D  D  R  H  D  S  G  L  D  S  M  K  D  E         p.40

          .         .         .         .         .         .       g.5274
 GAGTACGAGCAGATGGTCAAGGAGCTGCAGGAGATCCGCCTCGAGCCGCAGGAGGTGCCG       c.180
 E  Y  E  Q  M  V  K  E  L  Q  E  I  R  L  E  P  Q  E  V  P         p.60

          .         .         .         .        | 02.         .    g.5953
 CGCGGCTCGGAGCCCTGGAAGCAGCAGCTCACCGAGGACGGGGACTC | GTTCCTGCACTTG    c.240
 R  G  S  E  P  W  K  Q  Q  L  T  E  D  G  D  S  |  F  L  H  L      p.80

          .         .         .         .         .         .       g.6013
 GCCATCATCCATGAAGAAAAGGCACTGACCATGGAAGTGATCCGCCAGGTGAAGGGAGAC       c.300
 A  I  I  H  E  E  K  A  L  T  M  E  V  I  R  Q  V  K  G  D         p.100

          .         .         .       | 03 .         .         .    g.6402
 CTGGCCTTCCTCAACTTCCAGAACAACCTGCAGCAG | ACTCCACTCCACTTGGCTGTGATC    c.360
 L  A  F  L  N  F  Q  N  N  L  Q  Q   | T  P  L  H  L  A  V  I      p.120

          .         .         .         .         .         .       g.6462
 ACCAACCAGCCAGAAATTGCTGAGGCACTTCTGGGAGCTGGCTGTGATCCTGAGCTCCGA       c.420
 T  N  Q  P  E  I  A  E  A  L  L  G  A  G  C  D  P  E  L  R         p.140

          .         .         .         .         .         .       g.6522
 GACTTTCGAGGAAATACCCCCCTACACCTTGCCTGTGAGCAGGGCTGCCTGGCCAGCGTG       c.480
 D  F  R  G  N  T  P  L  H  L  A  C  E  Q  G  C  L  A  S  V         p.160

          .         .         .         .         .         .       g.6582
 GGAGTCCTGACTCAGTCCTGCACCACCCCGCACCTCCACTCCATCCTGAAGGCTACCAAC       c.540
 G  V  L  T  Q  S  C  T  T  P  H  L  H  S  I  L  K  A  T  N         p.180

         | 04.         .         .         .         .         .    g.6932
 TACAATG | GCCACACGTGTCTACACTTAGCCTCTATCCATGGCTACCTGGGCATCGTGGAG    c.600
 Y  N  G |   H  T  C  L  H  L  A  S  I  H  G  Y  L  G  I  V  E      p.200

          .         .         .       | 05 .         .         .    g.7099
 CTTTTGGTGTCCTTGGGTGCTGATGTCAATGCTCAG | GAGCCCTGTAATGGCCGGACTGCC    c.660
 L  L  V  S  L  G  A  D  V  N  A  Q   | E  P  C  N  G  R  T  A      p.220

          .         .         .         .         .         .       g.7159
 CTTCACCTCGCAGTGGACCTGCAAAATCCTGACCTGGTGTCACTCCTGTTGAAGTGTGGG       c.720
 L  H  L  A  V  D  L  Q  N  P  D  L  V  S  L  L  L  K  C  G         p.240

          .         .         .         .         .         .       g.7219
 GCTGATGTCAACAGAGTTACCTACCAGGGCTATTCTCCCTACCAGCTCACCTGGGGCCGC       c.780
 A  D  V  N  R  V  T  Y  Q  G  Y  S  P  Y  Q  L  T  W  G  R         p.260

          .         .         .         .         .         .       g.7279
 CCAAGCACCCGGATACAGCAGCAGCTGGGCCAGCTGACACTAGAAAACCTTCAGATGCTG       c.840
 P  S  T  R  I  Q  Q  Q  L  G  Q  L  T  L  E  N  L  Q  M  L         p.280

          .         .         .         .         .         .       g.7339
 CCAGAGAGTGAGGATGAGGAGAGCTATGACACAGAGTCAGAGTTCACGGAGTTCACAGAG       c.900
 P  E  S  E  D  E  E  S  Y  D  T  E  S  E  F  T  E  F  T  E         p.300

        | 06 .         .         .         .         .              g.7732
 GACGAG | CTGCCCTATGATGACTGTGTGTTTGGAGGCCAGCGTCTGACGTTATGA          c.954
 D  E   | L  P  Y  D  D  C  V  F  G  G  Q  R  L  T  L  X            p.317

          .         .         .         .         .         .       g.7792
 gcgcaaaggggctgaaagaacatggacttgtatatttgtacaaaaaaaaagttttatttt       c.*60

          .         .         .         .         .         .       g.7852
 tctaaaaaaagaaaaaagaagaaaaaatttaaagggtgtacttatatccacactgcacac       c.*120

          .         .         .         .         .         .       g.7912
 tgcctggcccaaaacgtcttattgtggtaggatcagccctcattttgttgcttttgtgaa       c.*180

          .         .         .         .         .         .       g.7972
 ctttttgtaggggacgagaaagatcattgaaattctgagaaaacttcttttaaacctcac       c.*240

          .         .         .         .         .         .       g.8032
 ctttgtggggtttttggagaaggttatcaaaaatttcatggaaggaccacattttatatt       c.*300

          .         .         .         .         .         .       g.8092
 tattgtgcttcgagtgactgaccccagtggtatcctgtgacatgtaacagccaggagtgt       c.*360

          .         .         .         .         .         .       g.8152
 taagcgttcagtgatgtggggtgaaaagttactacctgtcaaggtttgtgttaccctcct       c.*420

          .         .         .         .         .         .       g.8212
 gtaaatggtgtacataatgtattgttggtaattattttggtacttttatgatgtatattt       c.*480

          .         .                                               g.8235
 attaaacagatttttacaaatga                                            c.*503

 (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 10^th nucleotide is indicated by a "." above the sequence. The Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th 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.