calreticulin 3 (CALR3) - coding DNA reference sequence

(used for variant description)

(last modified April 23, 2018)

This file was created to facilitate the description of sequence variants on transcript NM_145046.4 in the CALR3 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_031959.2, covering CALR3 transcript NM_145046.4.

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

 (upstream sequence)
                                                                    g.137015
                                                          aga       c.-61

 .         .         .         .         .         .                g.137075
 gccgcagagagagctgggagctaaggggtggcggcgaccggaagcgcagtgcacaccccc       c.-1

          .         .         .         .         .         .       g.137135
 ATGGCCCGGGCTTTGGTCCAGCTCTGGGCCATATGCATGCTGCGAGTGGCGCTGGCTACC       c.60
 M  A  R  A  L  V  Q  L  W  A  I  C  M  L  R  V  A  L  A  T         p.20

          .         .         .  | 02      .         .         .    g.137381
 GTCTATTTCCAAGAGGAATTTCTAGACGGAG | AGCATTGGAGAAACCGATGGTTGCAGTCC    c.120
 V  Y  F  Q  E  E  F  L  D  G  E |   H  W  R  N  R  W  L  Q  S      p.40

          .         .         .         .         .         .       g.137441
 ACCAATGACTCCCGATTTGGGCATTTTAGACTTTCGTCGGGCAAGTTTTATGGTCATAAA       c.180
 T  N  D  S  R  F  G  H  F  R  L  S  S  G  K  F  Y  G  H  K         p.60

          .    | 03    .         .         .         .         .    g.142681
 GAGAAAGATAAAG | GTCTGCAAACCACTCAGAATGGCCGATTCTATGCCATCTCTGCACGC    c.240
 E  K  D  K  G |   L  Q  T  T  Q  N  G  R  F  Y  A  I  S  A  R      p.80

          .         .         .         .         .         .       g.142741
 TTCAAACCGTTCAGCAATAAAGGGAAAACTCTGGTTATTCAGTACACAGTAAAACATGAG       c.300
 F  K  P  F  S  N  K  G  K  T  L  V  I  Q  Y  T  V  K  H  E         p.100

          .         .         .         .         .         .       g.142801
 CAGAAGATGGACTGTGGAGGGGGCTACATTAAGGTCTTTCCTGCAGACATTGACCAGAAG       c.360
 Q  K  M  D  C  G  G  G  Y  I  K  V  F  P  A  D  I  D  Q  K         p.120

          .         .         .        | 04.         .         .    g.147970
 AACCTGAATGGAAAATCGCAGTACTATATTATGTTTG | GACCCGATATTTGTGGATTTGAT    c.420
 N  L  N  G  K  S  Q  Y  Y  I  M  F  G |   P  D  I  C  G  F  D      p.140

          .         .         .         .         .         .       g.148030
 ATCAAGAAAGTTCATGTTATTTTACATTTCAAGAATAAGTATCACGAAAACAAGAAACTG       c.480
 I  K  K  V  H  V  I  L  H  F  K  N  K  Y  H  E  N  K  K  L         p.160

          .   | 05     .         .         .         .         .    g.149137
 ATCAGGTGTAAG | GTTGATGGCTTCACACACCTGTACACTCTAATTTTAAGACCAGATCTT    c.540
 I  R  C  K   | V  D  G  F  T  H  L  Y  T  L  I  L  R  P  D  L      p.180

          .         .         .         .         .         .       g.149197
 TCTTATGATGTGAAAATTGATGGTCAGTCAATTGAATCCGGCAGCATAGAGTACGACTGG       c.600
 S  Y  D  V  K  I  D  G  Q  S  I  E  S  G  S  I  E  Y  D  W         p.200

          .         .         .         .         .         .       g.149257
 AACTTAACATCACTCAAGAAGGAAACGTCCCCGGCAGAATCGAAGGATTGGGAACAGACT       c.660
 N  L  T  S  L  K  K  E  T  S  P  A  E  S  K  D  W  E  Q  T         p.220

          .         | 06         .         .         .         .    g.150461
 AAAGACAACAAAGCCCAG | GACTGGGAGAAGCATTTTCTGGACGCCAGCACCAGCAAGCAG    c.720
 K  D  N  K  A  Q   | D  W  E  K  H  F  L  D  A  S  T  S  K  Q      p.240

          .         .         .         .         .         .       g.150521
 AGCGACTGGAACGGTGACCTGGATGGGGACTGGCCAGCGCCGATGCTCCAGAAGCCCCCG       c.780
 S  D  W  N  G  D  L  D  G  D  W  P  A  P  M  L  Q  K  P  P         p.260

        | 07 .         .         .         .         .         .    g.150677
 TACCAG | GATGGCCTGAAACCAGAAGGTATTCATAAAGACGTCTGGCTCCACCGTAAGATG    c.840
 Y  Q   | D  G  L  K  P  E  G  I  H  K  D  V  W  L  H  R  K  M      p.280

          .         .         .         .         .         .       g.150737
 AAGAATACCGACTATTTGACGCAGTATGACCTCTCAGAATTTGAGAACATTGGTGCCATT       c.900
 K  N  T  D  Y  L  T  Q  Y  D  L  S  E  F  E  N  I  G  A  I         p.300

          .         | 08         .         .         .         .    g.152540
 GGCCTGGAGCTTTGGCAG | GTGAGATCTGGAACCATTTTTGATAACTTTCTGATCACAGAT    c.960
 G  L  E  L  W  Q   | V  R  S  G  T  I  F  D  N  F  L  I  T  D      p.320

          .         .         .         .         .  | 09      .    g.153939
 GATGAAGAGTACGCAGATAATTTTGGCAAGGCCACCTGGGGCGAAACCAAG | GGTCCAGAA    c.1020
 D  E  E  Y  A  D  N  F  G  K  A  T  W  G  E  T  K   | G  P  E      p.340

          .         .         .         .         .         .       g.153999
 AGGGAGATGGATGCCATACAGGCCAAGGAGGAAATGAAGAAGGCCCGCGAGGAAGAGGAG       c.1080
 R  E  M  D  A  I  Q  A  K  E  E  M  K  K  A  R  E  E  E  E         p.360

          .         .         .         .         .         .       g.154059
 GAAGAGCTGCTGTCGGGAAAAATTAACAGGCACGAACATTACTTCAATCAATTTCACAGA       c.1140
 E  E  L  L  S  G  K  I  N  R  H  E  H  Y  F  N  Q  F  H  R         p.380

          .                                                         g.154074
 AGGAATGAACTTTAG                                                    c.1155
 R  N  E  L  X                                                      p.384

          .         .         .         .         .         .       g.154134
 tgatccccattggatataaggatgactggtaaaatctcattgctactttaatctatgttt       c.*60

          .                                                         g.154148
 caaactcaaatgtc                                                     c.*74

 (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 3 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.