coiled-coil domain containing 34 (CCDC34) - coding DNA reference sequence

(used for variant description)

(last modified June 27, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_030771.1 in the CCDC34 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000011.9, covering CCDC34 transcript NM_030771.1.

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

 (upstream sequence)
           .         .         .         .         .                g.5054
       gctgggaaagcgcgtccccgccgcggctccgccagtttgaacttggcgggccag       c.-1

          .         .         .         .         .         .       g.5114
 ATGTGGGCGGCGGGGCGCTGGGGGCCTACTTTTCCCTCTTCCTACGCCGGTTTCTCTGCT       c.60
 M  W  A  A  G  R  W  G  P  T  F  P  S  S  Y  A  G  F  S  A         p.20

          .         .         .         .         .         .       g.5174
 GACTGCAGACCCAGGTCTCGGCCCTCCTCGGACTCCTGCTCAGTCCCTATGACGGGCGCA       c.120
 D  C  R  P  R  S  R  P  S  S  D  S  C  S  V  P  M  T  G  A         p.40

          .         .         .         .         .         .       g.5234
 CGTGGGCAGGGGCTGGAGGTGGTGCGCTCGCCGTCGCCGCCGCTGCCGCTGAGCTGCAGC       c.180
 R  G  Q  G  L  E  V  V  R  S  P  S  P  P  L  P  L  S  C  S         p.60

          .         .         .         .         .         .       g.5294
 AATTCCACCAGGTCGCTGTTGTCTCCCCTTGGCCACCAGAGCTTCCAGTTTGACGAGGAC       c.240
 N  S  T  R  S  L  L  S  P  L  G  H  Q  S  F  Q  F  D  E  D         p.80

          .         .         .         .         .         .       g.5354
 GACGGTGACGGGGAGGATGAGGAAGACGTGGATGATGAGGAAGACGTGGATGAAGATGCC       c.300
 D  G  D  G  E  D  E  E  D  V  D  D  E  E  D  V  D  E  D  A         p.100

          .         .         .         .         .          | 02    g.10708
 CATGATTCAGAGGCCAAAGTGGCGAGCCTGAGAGGAATGGAGTTACAGGGGTGCGCCAG | C    c.360
 H  D  S  E  A  K  V  A  S  L  R  G  M  E  L  Q  G  C  A  S  |      p.120

          .         .         .         .         .         .       g.10768
 ACTCAGGTTGAATCAGAAAATAACCAAGAAGAACAGAAACAGGTGCGCTTACCAGAAAGC       c.420
 T  Q  V  E  S  E  N  N  Q  E  E  Q  K  Q  V  R  L  P  E  S         p.140

          .         .         .         .         .         .       g.10828
 CGCCTGACACCATGGGAGGTGTGGTTTATTGGCAAAGAAAAAGAAGAACGTGACCGGCTG       c.480
 R  L  T  P  W  E  V  W  F  I  G  K  E  K  E  E  R  D  R  L         p.160

          .         | 03         .         .         .         .    g.17851
 CAACTGAAAGCTCTAGAG | GAATTAAATCAACAACTAGAAAAAAGAAAAGAAATGGAAGAA    c.540
 Q  L  K  A  L  E   | E  L  N  Q  Q  L  E  K  R  K  E  M  E  E      p.180

          .         .         .         .         .         .       g.17911
 CGTGAAAAAAGAAAGATAATTGCTGAAGAAAAGCACAAGGAATGGGTTCAGAAAAAGAAT       c.600
 R  E  K  R  K  I  I  A  E  E  K  H  K  E  W  V  Q  K  K  N         p.200

        | 04 .         .         .         .         .         .    g.26752
 GAGCAA | AAAAGAAAAGAAAGAGAACAAAAAATTAATAAAGAAATGGAGGAAAAAGCAGCA    c.660
 E  Q   | K  R  K  E  R  E  Q  K  I  N  K  E  M  E  E  K  A  A      p.220

          .         .         .         .         .         .       g.26812
 AAGGAACTGGAGAAAGAATACTTGCAAGAAAAAGCAAAAGAAAAATATCAAGAATGGTTA       c.720
 K  E  L  E  K  E  Y  L  Q  E  K  A  K  E  K  Y  Q  E  W  L         p.240

          .         .         .         .      | 05  .         .    g.27426
 AAGAAAAAAAATGCTGAAGAATGTGAGAGGAAGAAGAAAGAAAAG | GAAAAAGAAAAACAA    c.780
 K  K  K  N  A  E  E  C  E  R  K  K  K  E  K   | E  K  E  K  Q      p.260

          .         .         .         .         .         .       g.27486
 CAGCAAGCTGAAATACAGGAGAAAAAGGAAATAGCAGAAAAAAAGTTTCAAGAATGGTTG       c.840
 Q  Q  A  E  I  Q  E  K  K  E  I  A  E  K  K  F  Q  E  W  L         p.280

          .         .         .         .         .         .       g.27546
 GAAAATGCGAAACATAAACCTCGTCCAGCTGCAAAGAGCTATGGTTATGCCAATGGAAAA       c.900
 E  N  A  K  H  K  P  R  P  A  A  K  S  Y  G  Y  A  N  G  K         p.300

         | 06.         .         .         .         .         .    g.29266
 CTTACAG | GTTTTTACAGTGGAAATTCCTATCCAGAACCAGCCTTTTATAATCCAATTCCG    c.960
 L  T  G |   F  Y  S  G  N  S  Y  P  E  P  A  F  Y  N  P  I  P      p.320

          .         .         .         .         .         .       g.29326
 TGGAAACCAATTCATATGCCACCTCCCAAAGAAGCTAAGGATCTATCAGGAAGGAAGAGT       c.1020
 W  K  P  I  H  M  P  P  P  K  E  A  K  D  L  S  G  R  K  S         p.340

          .         .         .         .         .         .       g.29386
 AAAAGACCTGTGATAAGTCAGCCACACAAGTCATCATCTCTGGTAATTCATAAAGCCAGG       c.1080
 K  R  P  V  I  S  Q  P  H  K  S  S  S  L  V  I  H  K  A  R         p.360

          .         .         .         .                           g.29428
 AGCAATCTTTGCCTTGGAACTCTGTGCAGAATACAAAGATAG                         c.1122
 S  N  L  C  L  G  T  L  C  R  I  Q  R  X                           p.373

          .         .         .         .         .         .       g.29488
 cgtatgtggaaaataacatgcttttatctggagctatttaatttaaaaatcagaaattgt       c.*60

          .         .         .         .         .         .       g.29548
 tttttactgctcagtcaataactcaacacttaatgtgattattgacaaatagcaattttt       c.*120

          .         .         .         .         .         .       g.29608
 gcatttgtatatggagtccttagagttgaggaagatattttctggattttggtttttata       c.*180

          .         .         .         .         .         .       g.29668
 aactttttaaggttgatcttggcatgttgttttgcagaataagtggctgaatatgtaaga       c.*240

          .         .         .         .         .         .       g.29728
 attgtgtttgtatttagcttgtattaaaagtacactgtaataccaataaaactaacaatt       c.*300

                                                                    g.29735
 tttcttg                                                            c.*307

 (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 Coiled-coil domain containing 34 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.