inhibin, beta A (INHBA) - coding DNA reference sequence

(used for variant description)

(last modified December 18, 2013)

This file was created to facilitate the description of sequence variants on transcript NM_002192.2 in the INHBA gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000007.13, covering INHBA transcript NM_002192.2.

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

 (upstream sequence)
                                                                    g.5007
                                                      agtacag       c.-241

 .         .         .         .         .         .                g.5067
 tataaaacttcacagtgccaataccatgaagaggagctcagacagctcttaccacatgat       c.-181

 .         .         .         .       | 02 .         .             g.7614
 acaagagccggctggtggaagagtggggaccagaaag | agaatttgctgaagaggagaagg    c.-121

 .         .         .         .         .         .                g.7674
 aaaaaaaaaacaccaaaaaaaaaaataaaaaaatccacacacacaaaaaaacctgcgcgt       c.-61

 .         .         .         .         .         .                g.7734
 gaggggggaggaaaagcagggccttttaaaaaggcaatcacaacaacttttgctgccagg       c.-1

          .         .         .         .         .         .       g.7794
 ATGCCCTTGCTTTGGCTGAGAGGATTTCTGTTGGCAAGTTGCTGGATTATAGTGAGGAGT       c.60
 M  P  L  L  W  L  R  G  F  L  L  A  S  C  W  I  I  V  R  S         p.20

          .         .         .         .         .         .       g.7854
 TCCCCCACCCCAGGATCCGAGGGGCACAGCGCGGCCCCCGACTGTCCGTCCTGTGCGCTG       c.120
 S  P  T  P  G  S  E  G  H  S  A  A  P  D  C  P  S  C  A  L         p.40

          .         .         .         .         .         .       g.7914
 GCCGCCCTCCCAAAGGATGTACCCAACTCTCAGCCAGAGATGGTGGAGGCCGTCAAGAAG       c.180
 A  A  L  P  K  D  V  P  N  S  Q  P  E  M  V  E  A  V  K  K         p.60

          .         .         .         .         .         .       g.7974
 CACATTTTAAACATGCTGCACTTGAAGAAGAGACCCGATGTCACCCAGCCGGTACCCAAG       c.240
 H  I  L  N  M  L  H  L  K  K  R  P  D  V  T  Q  P  V  P  K         p.80

          .         .         .         .         .         .       g.8034
 GCGGCGCTTCTGAACGCGATCAGAAAGCTTCATGTGGGCAAAGTCGGGGAGAACGGGTAT       c.300
 A  A  L  L  N  A  I  R  K  L  H  V  G  K  V  G  E  N  G  Y         p.100

          .         .         .         .         .         .       g.8094
 GTGGAGATAGAGGATGACATTGGAAGGAGGGCAGAAATGAATGAACTTATGGAGCAGACC       c.360
 V  E  I  E  D  D  I  G  R  R  A  E  M  N  E  L  M  E  Q  T         p.120

          .         .         | 03         .         .         .    g.17598
 TCGGAGATCATCACGTTTGCCGAGTCAG | GAACAGCCAGGAAGACGCTGCACTTCGAGATT    c.420
 S  E  I  I  T  F  A  E  S  G |   T  A  R  K  T  L  H  F  E  I      p.140

          .         .         .         .         .         .       g.17658
 TCCAAGGAAGGCAGTGACCTGTCAGTGGTGGAGCGTGCAGAAGTCTGGCTCTTCCTAAAA       c.480
 S  K  E  G  S  D  L  S  V  V  E  R  A  E  V  W  L  F  L  K         p.160

          .         .         .         .         .         .       g.17718
 GTCCCCAAGGCCAACAGGACCAGGACCAAAGTCACCATCCGCCTCTTCCAGCAGCAGAAG       c.540
 V  P  K  A  N  R  T  R  T  K  V  T  I  R  L  F  Q  Q  Q  K         p.180

          .         .         .         .         .         .       g.17778
 CACCCGCAGGGCAGCTTGGACACAGGGGAAGAGGCCGAGGAAGTGGGCTTAAAGGGGGAG       c.600
 H  P  Q  G  S  L  D  T  G  E  E  A  E  E  V  G  L  K  G  E         p.200

          .         .         .         .         .         .       g.17838
 AGGAGTGAACTGTTGCTCTCTGAAAAAGTAGTAGACGCTCGGAAGAGCACCTGGCATGTC       c.660
 R  S  E  L  L  L  S  E  K  V  V  D  A  R  K  S  T  W  H  V         p.220

          .         .         .         .         .         .       g.17898
 TTCCCTGTCTCCAGCAGCATCCAGCGGTTGCTGGACCAGGGCAAGAGCTCCCTGGACGTT       c.720
 F  P  V  S  S  S  I  Q  R  L  L  D  Q  G  K  S  S  L  D  V         p.240

          .         .         .         .         .         .       g.17958
 CGGATTGCCTGTGAGCAGTGCCAGGAGAGTGGCGCCAGCTTGGTTCTCCTGGGCAAGAAG       c.780
 R  I  A  C  E  Q  C  Q  E  S  G  A  S  L  V  L  L  G  K  K         p.260

          .         .         .         .         .         .       g.18018
 AAGAAGAAAGAAGAGGAGGGGGAAGGGAAAAAGAAGGGCGGAGGTGAAGGTGGGGCAGGA       c.840
 K  K  K  E  E  E  G  E  G  K  K  K  G  G  G  E  G  G  A  G         p.280

          .         .         .         .         .         .       g.18078
 GCAGATGAGGAAAAGGAGCAGTCGCACAGACCTTTCCTCATGCTGCAGGCCCGGCAGTCT       c.900
 A  D  E  E  K  E  Q  S  H  R  P  F  L  M  L  Q  A  R  Q  S         p.300

          .         .         .         .         .         .       g.18138
 GAAGACCACCCTCATCGCCGGCGTCGGCGGGGCTTGGAGTGTGATGGCAAGGTCAACATC       c.960
 E  D  H  P  H  R  R  R  R  R  G  L  E  C  D  G  K  V  N  I         p.320

          .         .         .         .         .         .       g.18198
 TGCTGTAAGAAACAGTTCTTTGTCAGTTTCAAGGACATCGGCTGGAATGACTGGATCATT       c.1020
 C  C  K  K  Q  F  F  V  S  F  K  D  I  G  W  N  D  W  I  I         p.340

          .         .         .         .         .         .       g.18258
 GCTCCCTCTGGCTATCATGCCAACTACTGCGAGGGTGAGTGCCCGAGCCATATAGCAGGC       c.1080
 A  P  S  G  Y  H  A  N  Y  C  E  G  E  C  P  S  H  I  A  G         p.360

          .         .         .         .         .         .       g.18318
 ACGTCCGGGTCCTCACTGTCCTTCCACTCAACAGTCATCAACCACTACCGCATGCGGGGC       c.1140
 T  S  G  S  S  L  S  F  H  S  T  V  I  N  H  Y  R  M  R  G         p.380

          .         .         .         .         .         .       g.18378
 CATAGCCCCTTTGCCAACCTCAAATCGTGCTGTGTGCCCACCAAGCTGAGACCCATGTCC       c.1200
 H  S  P  F  A  N  L  K  S  C  C  V  P  T  K  L  R  P  M  S         p.400

          .         .         .         .         .         .       g.18438
 ATGTTGTACTATGATGATGGTCAAAACATCATCAAAAAGGACATTCAGAACATGATCGTG       c.1260
 M  L  Y  Y  D  D  G  Q  N  I  I  K  K  D  I  Q  N  M  I  V         p.420

          .         .                                               g.18459
 GAGGAGTGTGGGTGCTCATAG                                              c.1281
 E  E  C  G  C  S  X                                                p.426

          .         .         .         .         .         .       g.18519
 agttgcccagcccagggggaaagggagcaagagttgtccagagaagacagtggcaaaatg       c.*60

          .         .         .         .         .         .       g.18579
 aagaaatttttaaggtttctgagttaaccagaaaaatagaaattaaaaacaaaacaaaaa       c.*120

          .         .         .         .         .         .       g.18639
 aaaaaacaaaaaaaaacaaaagtaaattaaaaacaaaacctgatgaaacagatgaaggaa       c.*180

          .         .         .         .         .         .       g.18699
 gatgtggaaaaaatccttagccagggctcagagatgaagcagtgaaagagacaggaattg       c.*240

          .         .         .         .         .         .       g.18759
 ggagggaaagggagaatggtgtaccctttatttcttctgaaatcacactgatgacatcag       c.*300

          .         .         .         .         .         .       g.18819
 ttgtttaaacggggtattgtcctttccccccttgaggttcccttgtgagccttgaatcaa       c.*360

          .         .         .         .         .         .       g.18879
 ccaatctagtctgcagtagtgtggactagaacaacccaaatagcatctagaaagccatga       c.*420

          .         .         .         .         .         .       g.18939
 gtttgaaagggcccatcacaggcactttcctacccaattacccaggtcataaggtatgtc       c.*480

          .         .         .         .         .         .       g.18999
 tgtgtgacacttatctctgtgtatatcagcatacacacacacacacacacacacacacac       c.*540

          .         .         .         .         .         .       g.19059
 acacacaggcatttccacacattacatatatacacatactggtaaaagaacaatcgtgtg       c.*600

          .         .         .         .                           g.19106
 caggtggtcacacttcctttttctgtaccacttttgcaacaaaacaa                    c.*647

 (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 Inhibin, beta A 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.