keratin 6B (KRT6B) - coding DNA reference sequence

(used for variant description)

(last modified November 25, 2021)


This file was created to facilitate the description of sequence variants on transcript NM_005555.3 in the KRT6B gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering KRT6B transcript NM_005555.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5048
             cgcctccagcctctcacactctcctaagccctctcatctcctggaacc       c.-1

          .         .         .         .         .         .       g.5108
 ATGGCCAGCACATCCACCACCATCAGGAGCCACAGCAGCAGCCGCCGGGGTTTCAGTGCC       c.60
 M  A  S  T  S  T  T  I  R  S  H  S  S  S  R  R  G  F  S  A         p.20

          .         .         .         .         .         .       g.5168
 AACTCAGCCAGGCTCCCTGGGGTCAGCCGCTCTGGCTTCAGCAGCATCTCCGTGTCCCGC       c.120
 N  S  A  R  L  P  G  V  S  R  S  G  F  S  S  I  S  V  S  R         p.40

          .         .         .         .         .         .       g.5228
 TCCAGGGGCAGTGGTGGCCTGGGTGGCGCATGTGGAGGAGCTGGCTTTGGCAGCCGCAGT       c.180
 S  R  G  S  G  G  L  G  G  A  C  G  G  A  G  F  G  S  R  S         p.60

          .         .         .         .         .         .       g.5288
 CTGTATGGCCTGGGGGGCTCCAAGAGGATCTCCATTGGAGGGGGCAGCTGTGCCATCAGT       c.240
 L  Y  G  L  G  G  S  K  R  I  S  I  G  G  G  S  C  A  I  S         p.80

          .         .         .         .         .         .       g.5348
 GGCGGCTATGGCAGCAGAGCCGGAGGCAGCTATGGCTTTGGTGGCGCCGGGAGTGGATTT       c.300
 G  G  Y  G  S  R  A  G  G  S  Y  G  F  G  G  A  G  S  G  F         p.100

          .         .         .         .         .         .       g.5408
 GGTTTCGGTGGTGGAGCCGGCATTGGCTTTGGTCTGGGTGGTGGAGCCGGCCTTGCTGGT       c.360
 G  F  G  G  G  A  G  I  G  F  G  L  G  G  G  A  G  L  A  G         p.120

          .         .         .         .         .         .       g.5468
 GGCTTTGGGGGCCCTGGCTTCCCTGTGTGCCCCCCTGGAGGCATCCAAGAGGTCACTGTC       c.420
 G  F  G  G  P  G  F  P  V  C  P  P  G  G  I  Q  E  V  T  V         p.140

          .         .         .         .         .         .       g.5528
 AACCAGAGTCTCCTGACTCCCCTCAACCTGCAAATTGACCCCGCCATCCAGCGGGTGCGG       c.480
 N  Q  S  L  L  T  P  L  N  L  Q  I  D  P  A  I  Q  R  V  R         p.160

          .         .         .         .         .         .       g.5588
 GCCGAGGAGCGTGAGCAGATCAAGACCCTCAACAACAAGTTTGCCTCCTTCATCGACAAG       c.540
 A  E  E  R  E  Q  I  K  T  L  N  N  K  F  A  S  F  I  D  K         p.180

  | 02       .         .         .         .         .         .    g.6566
  | GTGCGGTTCCTAGAGCAGCAGAACAAGGTTCTGGACACCAAGTGGACCCTGCTGCAGGAG    c.600
  | V  R  F  L  E  Q  Q  N  K  V  L  D  T  K  W  T  L  L  Q  E      p.200

          .         .         .         .         .         .       g.6626
 CAGGGCACCAAGACTGTGAGGCAGAACCTGGAGCCGTTGTTCGAGCAGTACATCAACAAC       c.660
 Q  G  T  K  T  V  R  Q  N  L  E  P  L  F  E  Q  Y  I  N  N         p.220

          .         .         .         .         .         .       g.6686
 CTCAGGAGGCAGCTGGACAACATCGTGGGGGAACGGGGTCGTCTGGACTCGGAGCTGAGA       c.720
 L  R  R  Q  L  D  N  I  V  G  E  R  G  R  L  D  S  E  L  R         p.240

          .         .         .      | 03  .         .         .    g.7079
 AACATGCAGGACCTGGTGGAGGACCTCAAGAACAA | ATATGAGGATGAAATCAACAAGCGC    c.780
 N  M  Q  D  L  V  E  D  L  K  N  K  |  Y  E  D  E  I  N  K  R      p.260

          .         .         .       | 04 .         .         .    g.7297
 ACAGCAGCAGAGAATGAATTTGTGACTCTGAAGAAG | GATGTGGATGCTGCCTACATGAAC    c.840
 T  A  A  E  N  E  F  V  T  L  K  K   | D  V  D  A  A  Y  M  N      p.280

          .         .         .         .         .         .       g.7357
 AAGGTTGAACTGCAAGCCAAGGCAGACACTCTTACAGATGAGATCAACTTCCTGAGAGCC       c.900
 K  V  E  L  Q  A  K  A  D  T  L  T  D  E  I  N  F  L  R  A         p.300

          .   | 05     .         .         .         .         .    g.7541
 TTGTATGATGCA | GAGCTGTCCCAGATGCAGACCCACATCTCAGACACATCCGTGGTGCTA    c.960
 L  Y  D  A   | E  L  S  Q  M  Q  T  H  I  S  D  T  S  V  V  L      p.320

          .         .         .         .         .         .       g.7601
 TCCATGGACAACAACCGCAACCTGGACCTGGACAGCATCATCGCTGAGGTCAAGGCCCAA       c.1020
 S  M  D  N  N  R  N  L  D  L  D  S  I  I  A  E  V  K  A  Q         p.340

          .         .         .         .         .        | 06.    g.8162
 TATGAGGAGATTGCTCAGAGGAGCAGGGCTGAGGCTGAGTCCTGGTACCAGACAAAG | TAC    c.1080
 Y  E  E  I  A  Q  R  S  R  A  E  A  E  S  W  Y  Q  T  K   | Y      p.360

          .         .         .         .         .         .       g.8222
 GAGGAGCTGCAGATCACAGCAGGCAGACATGGGGACGACCTGCGCAACACCAAGCAGGAG       c.1140
 E  E  L  Q  I  T  A  G  R  H  G  D  D  L  R  N  T  K  Q  E         p.380

          .         .         .         .         .         .       g.8282
 ATTGCTGAGATCAACCGCATGATCCAGAGGCTGAGATCTGAGATCGACCACGTCAAGAAG       c.1200
 I  A  E  I  N  R  M  I  Q  R  L  R  S  E  I  D  H  V  K  K         p.400

     | 07    .         .         .         .         .         .    g.9185
 CAG | TGTGCCAACCTACAGGCCGCCATTGCTGATGCTGAGCAGCGTGGGGAGATGGCCCTC    c.1260
 Q   | C  A  N  L  Q  A  A  I  A  D  A  E  Q  R  G  E  M  A  L      p.420

          .         .         .         .         .         .       g.9245
 AAGGATGCTAAGAACAAGCTGGAAGGGCTGGAGGATGCCCTGCAGAAGGCCAAGCAGGAC       c.1320
 K  D  A  K  N  K  L  E  G  L  E  D  A  L  Q  K  A  K  Q  D         p.440

          .         .         .         .         .         .       g.9305
 CTGGCCCGGCTGCTGAAGGAGTACCAGGAGCTGATGAACGTCAAGCTGGCCCTGGATGTG       c.1380
 L  A  R  L  L  K  E  Y  Q  E  L  M  N  V  K  L  A  L  D  V         p.460

          .         .         .         .     | 08   .         .    g.9569
 GAGATCGCCACCTACCGCAAGCTGCTGGAGGGCGAGGAGTGCAG | GCTGAATGGCGAAGGC    c.1440
 E  I  A  T  Y  R  K  L  L  E  G  E  E  C  R  |  L  N  G  E  G      p.480

          .          | 09        .         .         .         .    g.9742
 GTTGGACAAGTCAACATCT | CTGTAGTGCAGTCCACCGTCTCCAGTGGCTATGGCGGTGCC    c.1500
 V  G  Q  V  N  I  S |   V  V  Q  S  T  V  S  S  G  Y  G  G  A      p.500

          .         .         .         .         .         .       g.9802
 AGCGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCAGTGGT       c.1560
 S  G  V  G  S  G  L  G  L  G  G  G  S  S  Y  S  Y  G  S  G         p.520

          .         .         .         .         .         .       g.9862
 CTTGGCGTTGGAGGCGGCTTTAGTTCCAGCAGCGGCAGAGCCACTGGGGGTGGCCTCAGC       c.1620
 L  G  V  G  G  G  F  S  S  S  S  G  R  A  T  G  G  G  L  S         p.540

          .         .         .         .         .         .       g.9922
 TCTGTTGGAGGCGGCAGTTCCACCATCAAGTACACCACCACCTCCTCCTCCAGCAGGAAG       c.1680
 S  V  G  G  G  S  S  T  I  K  Y  T  T  T  S  S  S  S  R  K         p.560

          .                                                         g.9937
 AGCTACAAGCACTGA                                                    c.1695
 S  Y  K  H  X                                                      p.564

          .         .         .         .         .         .       g.9997
 agtgctgccgccagctctcagtcccacagctctcaggcccctctctggcagcagagccct       c.*60

          .         .         .         .         .         .       g.10057
 ctcctcaggttgcttgtcctcccctggcctccagtctcccctgccctcccgggtagagct       c.*120

          .         .         .         .         .         .       g.10117
 gggatgccctcacttttcttctcatcaatacctgttccactgagctcctgttgcttacca       c.*180

          .         .         .         .         .         .       g.10177
 tcaagtcaacagttatcagcactcagacatgcgaatgtcctttttagttcccgtattatt       c.*240

          .         .         .         .         .         .       g.10237
 acaggtatctgagtctgccataattctgagaagaaaatgacctatatccccataagaact       c.*300

          .         .         .         .         .         .       g.10297
 gaaactcagtctaggtccagctgcagatgaggagtcctctctttaattgctaaccatcct       c.*360

          .         .         .         .         .         .       g.10357
 gcccattatagctacactcaggagttctcatctgacaagtcagttgtcctgatcttctct       c.*420

          .         .         .         .         .         .       g.10417
 tgcagtgtccctgaatggcaagtgatgtaccttctgatgcagtctgcattcctgcactgc       c.*480

          .         .         .         .         .                 g.10476
 tttctctgctctctttgccttcttttgttctgttgaataaagcatattgagaatgtgaa        c.*539

 (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 Keratin 6B 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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