serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6) - coding DNA reference sequence

(used for variant description)

(last modified November 7, 2023)

This file was created to facilitate the description of sequence variants on transcript NM_004568.5 in the SERPINB6 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000006.11, covering SERPINB6 transcript NM_004568.5.

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

 (upstream sequence)
                     .         .         .         .                g.5043
                  actgcagcctctgcctcccgggttcaagtgattctcctgcctc       c.-601

 .         .         .         .         .         .                g.5103
 agcttccccagcaactgagattacaggcacgcgccattacactcggctaatttttgtatt       c.-541

 .         .         .         .         .         .                g.5163
 tttagtagagacggggttttgccatgttggccaggctggtctggaactcctgacctccag       c.-481

 .         .         .         .         .         .                g.5223
 tgatccgcctgcctcggcctcccagtgttgggattactggcgtgagccccgcgcccgccc       c.-421

 .         .         .         .         .         .                g.5283
 ctggctggcttctttgccgcaagctgtttcatcagcaaagtctttgtgacctgtatctag       c.-361

 .         .         .         .         .         .                g.5343
 tctgctcatttttaaatgcgtgttctgcactccccagtggatggccgtgtatcaggagcc       c.-301

 .         .         .         .         .         .                g.5403
 ggcccttttctggaaacaggccagcattcagtctccacagaggcaccataaacacgctgg       c.-241

 .         .         .         .         .         .                g.5463
 tggggccctgtactgtggtcaaagtcaaggcctccgggcaggactcgcggcccctccggc       c.-181

 .         .         .         .         .         .                g.5523
 tggcgggtggggttgacccgcacgtcccgccccgcctctcccttcgcgctccggacgggc       c.-121

 .         .         .         .         .         .                g.5583
 gacggtagctcgagacccgggactccgcccgcctccccgcgagtatttgaggtccggggc       c.-61

 .         .         .         .         .          | 02            g.17833
 ggctccggcgcctctgcccgccgttctgctcgctcgctccccgctctgga | gtctgccatc    c.-1

          .         .         .         .         .         .       g.17893
 ATGGATGTTCTCGCAGAAGCAAATGGCACCTTTGCCTTAAACCTTTTGAAAACGCTGGGT       c.60
 M  D  V  L  A  E  A  N  G  T  F  A  L  N  L  L  K  T  L  G         p.20

          .         .         .         .         .         .       g.17953
 AAAGACAACTCGAAGAATGTGTTTTTCTCACCCATGAGCATGTCCTGTGCCCTGGCCATG       c.120
 K  D  N  S  K  N  V  F  F  S  P  M  S  M  S  C  A  L  A  M         p.40

          .         .         .         .      | 03  .         .    g.21510
 GTCTACATGGGGGCAAAGGGAAACACCGCTGCACAGATGGCCCAG | ATACTTTCTTTCAAT    c.180
 V  Y  M  G  A  K  G  N  T  A  A  Q  M  A  Q   | I  L  S  F  N      p.60

          .         .         .         .         .         .       g.21570
 AAAAGTGGCGGTGGTGGAGACATCCACCAGGGCTTCCAGTCTCTTCTCACCGAAGTGAAC       c.240
 K  S  G  G  G  G  D  I  H  Q  G  F  Q  S  L  L  T  E  V  N         p.80

          .         .         .         .         .         .       g.21630
 AAGACTGGCACGCAGTACTTGCTTAGGATGGCCAACAGGCTCTTTGGGGAAAAGTCTTGT       c.300
 K  T  G  T  Q  Y  L  L  R  M  A  N  R  L  F  G  E  K  S  C         p.100

          .   | 04     .         .         .         .         .    g.22504
 GATTTCCTCTCA | TCTTTTAGAGATTCCTGCCAAAAATTCTACCAAGCAGAGATGGAGGAG    c.360
 D  F  L  S   | S  F  R  D  S  C  Q  K  F  Y  Q  A  E  M  E  E      p.120

          .         .         .         .         .         .       g.22564
 CTTGACTTTATCAGCGCCGTAGAGAAGTCCAGAAAACACATAAACACCTGGGTAGCTGAA       c.420
 L  D  F  I  S  A  V  E  K  S  R  K  H  I  N  T  W  V  A  E         p.140

          . | 05       .         .         .         .         .    g.24029
 AAGACAGAAG | GTAAAATTGCGGAGTTGCTCTCTCCGGGCTCAGTGGATCCATTGACAAGG    c.480
 K  T  E  G |   K  I  A  E  L  L  S  P  G  S  V  D  P  L  T  R      p.160

          .         .         .         .         .         .       g.24089
 CTGGTTCTGGTGAATGCTGTCTATTTCAGAGGAAACTGGGATGAACAGTTTGACAAGGAG       c.540
 L  V  L  V  N  A  V  Y  F  R  G  N  W  D  E  Q  F  D  K  E         p.180

          .         .         .    | 06    .         .         .    g.28123
 AACACCGAGGAGAGACTGTTTAAAGTCAGCAAG | AATGAGGAGAAACCTGTGCAAATGATG    c.600
 N  T  E  E  R  L  F  K  V  S  K   | N  E  E  K  P  V  Q  M  M      p.200

          .         .         .         .         .         .       g.28183
 TTTAAGCAATCTACTTTTAAGAAGACCTATATAGGAGAAATATTTACCCAAATCTTGGTG       c.660
 F  K  Q  S  T  F  K  K  T  Y  I  G  E  I  F  T  Q  I  L  V         p.220

          .         .         .         .         .         .       g.28243
 CTTCCATATGTTGGCAAGGAACTGAATATGATCATCATGCTTCCGGACGAGACCACTGAC       c.720
 L  P  Y  V  G  K  E  L  N  M  I  I  M  L  P  D  E  T  T  D         p.240

           | 07        .         .         .         .         .    g.28517
 TTGAGAACG | GTGGAGAAAGAACTCACTTACGAGAAGTTCGTAGAATGGACGAGGCTGGAC    c.780
 L  R  T   | V  E  K  E  L  T  Y  E  K  F  V  E  W  T  R  L  D      p.260

          .         .         .         .         .         .       g.28577
 ATGATGGATGAAGAGGAGGTGGAAGTGTCCCTCCCGCGGTTTAAACTAGAGGAAAGCTAC       c.840
 M  M  D  E  E  E  V  E  V  S  L  P  R  F  K  L  E  E  S  Y         p.280

          .         .         .         .         .         .       g.28637
 GACATGGAGAGTGTCCTGCGCAACCTGGGCATGACTGATGCCTTCGAGCTGGGCAAGGCA       c.900
 D  M  E  S  V  L  R  N  L  G  M  T  D  A  F  E  L  G  K  A         p.300

          .         .         .         .         .         .       g.28697
 GACTTCTCTGGAATGTCCCAGACAGACCTGTCTCTGTCCAAGGTCGTGCACAAGTCTTTT       c.960
 D  F  S  G  M  S  Q  T  D  L  S  L  S  K  V  V  H  K  S  F         p.320

          .         .         .         .         .         .       g.28757
 GTGGAGGTCAATGAGGAAGGCACGGAGGCTGCAGCCGCCACAGCTGCCATCATGATGATG       c.1020
 V  E  V  N  E  E  G  T  E  A  A  A  A  T  A  A  I  M  M  M         p.340

          .         .         .         .         .         .       g.28817
 CGGTGTGCCAGATTCGTCCCCCGCTTCTGCGCCGACCACCCCTTCCTTTTCTTCATCCAG       c.1080
 R  C  A  R  F  V  P  R  F  C  A  D  H  P  F  L  F  F  I  Q         p.360

          .         .         .         .         .                 g.28868
 CACAGCAAGACCAACGGGATTCTCTTCTGCGGCCGCTTTTCCTCTCCGTGA                c.1131
 H  S  K  T  N  G  I  L  F  C  G  R  F  S  S  P  X                  p.376

          .         .         .         .         .         .       g.28928
 ggacagggcagtcttggtgtgcagcccctctcctctctgtcccctgacactccacagtgt       c.*60

          .         .         .         .         .         .       g.28988
 gcctgcaacccaagtggccttatccgtgcagtggtggcagttcagaaataaagggcccat       c.*120

          .                                                         g.29007
 ttgtgggatgccgcattca                                                c.*139

 (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 Serpin peptidase inhibitor, clade B (ovalbumin), member 6 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.