chromosome 11 open reading frame 70 (C11orf70) - coding DNA reference sequence

(used for variant description)

(last modified May 14, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_032930.2 in the C11orf70 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000011.9, covering C11orf70 transcript NM_032930.2.

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

 (upstream sequence)
                               .         .         .                g.5033
                            aacggcccaggcatccacccagccgagagcacg       c.-1

          .         .         .         .         .         .       g.5093
 ATGGCTACTGGGGAGCTCGGGGACTTGGGTGGCTACTACTTCAGGTTCTTGCCTCAGAAA       c.60
 M  A  T  G  E  L  G  D  L  G  G  Y  Y  F  R  F  L  P  Q  K         p.20

          .         .         .         .         . | 02       .    g.5387
 ACCTTCCAGTCTCTGAGCTCTAAGGAGATCACCAGCCGGCTCCGCCAGTG | GTCCATGCTG    c.120
 T  F  Q  S  L  S  S  K  E  I  T  S  R  L  R  Q  W  |  S  M  L      p.40

          .         .         .         .         .         .       g.5447
 GGCAGAATCAAGGCGCAGGCGTTCGGCTTTGACCAGACCTTTCAGTCCTATCGGAAGGAT       c.180
 G  R  I  K  A  Q  A  F  G  F  D  Q  T  F  Q  S  Y  R  K  D         p.60

          .   | 03     .         .         .         .         .    g.16490
 GATTTCGTTATG | GCTTTTTTCAAAGACCCAAATGTTATTCCCAATTTGAAGTTACTTTCA    c.240
 D  F  V  M   | A  F  F  K  D  P  N  V  I  P  N  L  K  L  L  S      p.80

          .         .         | 04         .         .         .    g.24079
 GATTCTTCTGGACAATGGATCATATTAG | GAACTGAAGTGAAAAAAATTGAAGCTATAAAT    c.300
 D  S  S  G  Q  W  I  I  L  G |   T  E  V  K  K  I  E  A  I  N      p.100

          .         .         .         .         .         .       g.24139
 GTTCCTTGCACACAGCTTTCAATGTCATTTTTTCATCGGTTATATGATGAAGATATTGTA       c.360
 V  P  C  T  Q  L  S  M  S  F  F  H  R  L  Y  D  E  D  I  V         p.120

          .         .         .         .         .         .       g.24199
 CGAGACAGTGGACATATTGTTAAATGTTTAGATTCTTTTTGTGATCCATTTCTCATTTCT       c.420
 R  D  S  G  H  I  V  K  C  L  D  S  F  C  D  P  F  L  I  S         p.140

          .      | 05  .         .         .         .         .    g.33480
 GATGAGTTACGAAGA | GTTTTGCTAGTGGAAGACTCAGAAAAATATGAAATATTCAGCCAA    c.480
 D  E  L  R  R   | V  L  L  V  E  D  S  E  K  Y  E  I  F  S  Q      p.160

          .         .         .         .         .         .       g.33540
 CCAGATAGAGAAGAGTTCCTGTTTTGTCTTTTCAAACATCTTTGCCTTGGTGGAGCCCTT       c.540
 P  D  R  E  E  F  L  F  C  L  F  K  H  L  C  L  G  G  A  L         p.180

          .         .         .         .         .         .       g.33600
 TGTCAATATGAGGATGTGATTAGCCCATATCTGGAAACAACAAAGCTTATCTATAAGGAT       c.600
 C  Q  Y  E  D  V  I  S  P  Y  L  E  T  T  K  L  I  Y  K  D         p.200

          | 06         .         .         .         .         .    g.38829
 CTGGTGAG | TGTTCGAAAGAATCCTCAAACCAAGAAAATACAGATTACCTCTTCTGTCTTT    c.660
 L  V  S  |  V  R  K  N  P  Q  T  K  K  I  Q  I  T  S  S  V  F      p.220

          .      | 07  .         .         .         .         .    g.40678
 AAAGTTTCAGCTTAT | GATTCTGCTGGTATGTGCTATCCTTCAGCAAAGAATCATGAACAG    c.720
 K  V  S  A  Y   | D  S  A  G  M  C  Y  P  S  A  K  N  H  E  Q      p.240

          .         .         .         .         .         .       g.40738
 ACATTTTCTTACTTTATTGTGGATCCTATCAGGCGTCACCTTCATGTTTTATACCACTGT       c.780
 T  F  S  Y  F  I  V  D  P  I  R  R  H  L  H  V  L  Y  H  C         p.260

          .         .                                               g.40762
 TATGGTGTGGGAGACATGTCTTAA                                           c.804
 Y  G  V  G  D  M  S  X                                             p.267

          .         .         .         .         .         .       g.40822
 tgttctttcagattatgtacctctactattttgtatttatcatttttctatcttaatact       c.*60

          .         .         .         .         .         .       g.40882
 aacttatagataaacatatactttgcaaattaattcaagaaaaatgtaaggagcctactt       c.*120

          .         .         .         .         .         .       g.40942
 agagcagaagaaagcaaacaccaagatgcctttttaaaaatttgtgtggaatactaaccg       c.*180

          .         .         .         .         .         .       g.41002
 gggatcaaatttcatccataataaaatctataccaaaaaagttgtggaatttttacagaa       c.*240

          .         .         .         .         .         .       g.41062
 agttacaaggaattagaaatctagttcatatttgttgcattgtgattcaagtgaatcctc       c.*300

          .         .         .         .         .         .       g.41122
 aattttccatgtattttaatttataagctaattaattatggattgaaaatgtagcagaaa       c.*360

          .         .         .         .         .         .       g.41182
 actaaacatgtctaccactgatcattaatatgaattgttagtttatttaacttgtttcat       c.*420

          .         .         .         .         .         .       g.41242
 ttaattacatttcttcattgcacaagcgtttacatctgtaaagctaggcaaagcataaca       c.*480

          .         .         .         .         .         .       g.41302
 attcttttgcttcatttgttccacttataagcctcagtaaagaagtaacgttctggggcc       c.*540

          .         .         .         .         .         .       g.41362
 tggcacggtggctcacgcctgtaatctcagcactttgggaggccaaggcgggcggatcac       c.*600

          .         .         .         .         .         .       g.41422
 gaggtcaagagatcgagaccatcctggccaacatggtgaaaccccgtctctaccaaaagt       c.*660

          .         .         .         .         .         .       g.41482
 acaaaaattagctggctgtggtggtgtgtgcctgtagtcccagctactcaggaggctgag       c.*720

          .         .         .         .         .         .       g.41542
 gcaagagaatcacttgaacccgggaagtgaggttgcagtgagccgaggctgtgccactgt       c.*780

          .         .         .         .         .         .       g.41602
 actctagctctggcaacagagcaagactccgtctcagaaaaaaaaaaggttctgaaagtg       c.*840

          .         .         .         .         .         .       g.41662
 gttgtaaactcttgtatcacataataaattaaaactgcagctgtcccacggctaatacaa       c.*900

          .         .         .         .         .         .       g.41722
 gagctacatgtaaacagagaaagttgcctgatggcattagtaagtcgttcaaagagtgag       c.*960

          .         .         .         .         .         .       g.41782
 aagcaggttatcttagtactgttccttatttcattcatagaatgaatgtataacctagat       c.*1020

          .         .         .         .         .         .       g.41842
 tgtttttggtttattttgatggcaaaaatcattgacatatatcccatgggtcatgggaag       c.*1080

          .         .         .         .         .         .       g.41902
 cctgtaagaaatgttgaggtttgaggaggagcaagtttgaaagatgtgtttctgtgttgt       c.*1140

          .         .         .         .         .         .       g.41962
 gggataaagacgataatcttggacttgaacctggatttgaatctggaatgcagctggcaa       c.*1200

          .         .         .         .         .         .       g.42022
 tttgggtatagagctcaggagaaagagtatgttttacttctaatacctaacacaatgact       c.*1260

          .         .         .         .         .         .       g.42082
 tggcatattaaatgtttattgaatgaataactactttctagatatcctcataatacccat       c.*1320

          .         .         .         .                           g.42123
 agatttttttaaattacataaaaacataaaatcaagaactg                          c.*1361

 (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 Chromosome 11 open reading frame 70 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.