calreticulin (CALR) - coding DNA reference sequence

(used for variant description)

(last modified April 4, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_004343.3 in the CALR gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_029662.1, covering CALR transcript NM_004343.3.

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

 (upstream sequence)
                                         .         .                g.5020
                                         gcggcgtccgtccgtactgc       c.-61

 .         .         .         .         .         .                g.5080
 agagccgctgccggagggtcgttttaaagggcccgcgcgttgccgccccctcggcccgcc       c.-1

          .         .         .         .         .         .       g.5140
 ATGCTGCTATCCGTGCCGCTGCTGCTCGGCCTCCTCGGCCTGGCCGTCGCCGAGCCTGCC       c.60
 M  L  L  S  V  P  L  L  L  G  L  L  G  L  A  V  A  E  P  A         p.20

          .         .         .  | 02      .         .         .    g.5563
 GTCTACTTCAAGGAGCAGTTTCTGGACGGAG | ACGGGTGGACTTCCCGCTGGATCGAATCC    c.120
 V  Y  F  K  E  Q  F  L  D  G  D |   G  W  T  S  R  W  I  E  S      p.40

          .         .         .         .         .         .       g.5623
 AAACACAAGTCAGATTTTGGCAAATTCGTTCTCAGTTCCGGCAAGTTCTACGGTGACGAG       c.180
 K  H  K  S  D  F  G  K  F  V  L  S  S  G  K  F  Y  G  D  E         p.60

          .    | 03    .         .         .         .         .    g.5875
 GAGAAAGATAAAG | GTTTGCAGACAAGCCAGGATGCACGCTTTTATGCTCTGTCGGCCAGT    c.240
 E  K  D  K  G |   L  Q  T  S  Q  D  A  R  F  Y  A  L  S  A  S      p.80

          .         .         .         .         .         .       g.5935
 TTCGAGCCTTTCAGCAACAAAGGCCAGACGCTGGTGGTGCAGTTCACGGTGAAACATGAG       c.300
 F  E  P  F  S  N  K  G  Q  T  L  V  V  Q  F  T  V  K  H  E         p.100

          .         .         .         .         .         .       g.5995
 CAGAACATCGACTGTGGGGGCGGCTATGTGAAGCTGTTTCCTAATAGTTTGGACCAGACA       c.360
 Q  N  I  D  C  G  G  G  Y  V  K  L  F  P  N  S  L  D  Q  T         p.120

          .         .         .        | 04.         .         .    g.6476
 GACATGCACGGAGACTCAGAATACAACATCATGTTTG | GTCCCGACATCTGTGGCCCTGGC    c.420
 D  M  H  G  D  S  E  Y  N  I  M  F  G |   P  D  I  C  G  P  G      p.140

          .         .         .         .         .         .       g.6536
 ACCAAGAAGGTTCATGTCATCTTCAACTACAAGGGCAAGAACGTGCTGATCAACAAGGAC       c.480
 T  K  K  V  H  V  I  F  N  Y  K  G  K  N  V  L  I  N  K  D         p.160

          .   | 05     .         .         .         .         .    g.6691
 ATCCGTTGCAAG | GATGATGAGTTTACACACCTGTACACACTGATTGTGCGGCCAGACAAC    c.540
 I  R  C  K   | D  D  E  F  T  H  L  Y  T  L  I  V  R  P  D  N      p.180

          .         .         .         .         .         .       g.6751
 ACCTATGAGGTGAAGATTGACAACAGCCAGGTGGAGTCCGGCTCCTTGGAAGACGATTGG       c.600
 T  Y  E  V  K  I  D  N  S  Q  V  E  S  G  S  L  E  D  D  W         p.200

          .         .         .         .         .         .       g.6811
 GACTTCCTGCCACCCAAGAAGATAAAGGATCCTGATGCTTCAAAACCGGAAGACTGGGAT       c.660
 D  F  L  P  P  K  K  I  K  D  P  D  A  S  K  P  E  D  W  D         p.220

          .         .         .         .   | 06     .         .    g.6959
 GAGCGGGCCAAGATCGATGATCCCACAGACTCCAAGCCTGAG | GACTGGGACAAGCCCGAG    c.720
 E  R  A  K  I  D  D  P  T  D  S  K  P  E   | D  W  D  K  P  E      p.240

          .         .         .         .         .         .       g.7019
 CATATCCCTGACCCTGATGCTAAGAAGCCCGAGGACTGGGATGAAGAGATGGACGGAGAG       c.780
 H  I  P  D  P  D  A  K  K  P  E  D  W  D  E  E  M  D  G  E         p.260

          .         .         .       | 07 .         .         .    g.7168
 TGGGAACCCCCAGTGATTCAGAACCCTGAGTACAAG | GGTGAGTGGAAGCCCCGGCAGATC    c.840
 W  E  P  P  V  I  Q  N  P  E  Y  K   | G  E  W  K  P  R  Q  I      p.280

          .         .         .         .         .         .       g.7228
 GACAACCCAGATTACAAGGGCACTTGGATCCACCCAGAAATTGACAACCCCGAGTATTCT       c.900
 D  N  P  D  Y  K  G  T  W  I  H  P  E  I  D  N  P  E  Y  S         p.300

          .         .         .         .         .         .       g.7288
 CCCGATCCCAGTATCTATGCCTATGATAACTTTGGCGTGCTGGGCCTGGACCTCTGGCAG       c.960
 P  D  P  S  I  Y  A  Y  D  N  F  G  V  L  G  L  D  L  W  Q         p.320

  | 08       .         .         .         .         .         .    g.9997
  | GTCAAGTCTGGCACCATCTTTGACAACTTCCTCATCACCAACGATGAGGCATACGCTGAG    c.1020
  | V  K  S  G  T  I  F  D  N  F  L  I  T  N  D  E  A  Y  A  E      p.340

          .         .         .    | 09    .         .         .    g.10140
 GAGTTTGGCAACGAGACGTGGGGCGTAACAAAG | GCAGCAGAGAAACAAATGAAGGACAAA    c.1080
 E  F  G  N  E  T  W  G  V  T  K   | A  A  E  K  Q  M  K  D  K      p.360

          .         .         .         .         .         .       g.10200
 CAGGACGAGGAGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAG       c.1140
 Q  D  E  E  Q  R  L  K  E  E  E  E  D  K  K  R  K  E  E  E         p.380

          .         .         .         .         .         .       g.10260
 GAGGCAGAGGACAAGGAGGATGATGAGGACAAAGATGAGGATGAGGAGGATGAGGAGGAC       c.1200
 E  A  E  D  K  E  D  D  E  D  K  D  E  D  E  E  D  E  E  D         p.400

          .         .         .         .         .                 g.10314
 AAGGAGGAAGATGAGGAGGAAGATGTCCCCGGCCAGGCCAAGGACGAGCTGTAG             c.1254
 K  E  E  D  E  E  E  D  V  P  G  Q  A  K  D  E  L  X               p.417

          .         .         .         .         .         .       g.10374
 agaggcctgcctccagggctggactgaggcctgagcgctcctgccgcagagctggccgcg       c.*60

          .         .         .         .         .         .       g.10434
 ccaaataatgtctctgtgagactcgagaactttcatttttttccaggctggttcggattt       c.*120

          .         .         .         .         .         .       g.10494
 ggggtggattttggttttgttcccctcctccactctcccccaccccctccccgccctttt       c.*180

          .         .         .         .         .         .       g.10554
 ttttttttttttttaaactggtattttatctttgattctccttcagccctcacccctggt       c.*240

          .         .         .         .         .         .       g.10614
 tctcatctttcttgatcaacatcttttcttgcctctgtccccttctctcatctcttagct       c.*300

          .         .         .         .         .         .       g.10674
 cccctccaacctggggggcagtggtgtggagaagccacaggcctgagatttcatctgctc       c.*360

          .         .         .         .         .         .       g.10734
 tccttcctggagcccagaggagggcagcagaagggggtggtgtctccaaccccccagcac       c.*420

          .         .         .         .         .         .       g.10794
 tgaggaagaacggggctcttctcatttcacccctccctttctcccctgcccccaggactg       c.*480

          .         .         .         .         .         .       g.10854
 ggccacttctgggtggggcagtgggtcccagattggctcacactgagaatgtaagaacta       c.*540

          .         .         .                                     g.10891
 caaacaaaatttctattaaattaaattttgtgtctcc                              c.*577

 (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 Calreticulin 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.