Canonical Allele Identifier: CA10604256
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 282652
ClinVar RCV Id: RCV001211664
dbSNP Id: rs886042447

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237371893del , CM000664.2:g.237371893del GRCh38
NC_000002.11:g.238280536del , CM000664.1:g.238280536del GRCh37
NC_000002.10:g.237945275del NCBI36
NG_008676.1:g.47315del , LRG_473:g.47315del

Transcript Alleles

HGVS Amino-acid change
ENST00000353578.9:c.3506del ENSP00000315873.4:p.Gln1169ArgfsTer5
ENST00000295550.9:c.4124del MANE Select ENSP00000295550.4:p.Gln1375ArgfsTer5
ENST00000295550.8:c.4124del ENSP00000295550.4:p.Gln1375ArgfsTer5
ENST00000347401.7:c.2303del ENSP00000315609.4:p.Gln768ArgfsTer5
ENST00000353578.8:c.3506del ENSP00000315873.4:p.Gln1169ArgfsTer5
ENST00000392003.6:c.2903del ENSP00000375860.2:p.Gln968ArgfsTer5
ENST00000392004.7:c.3506del ENSP00000375861.3:p.Gln1169ArgfsTer5
ENST00000409809.5:c.3506del ENSP00000386844.1:p.Gln1169ArgfsTer5
ENST00000472056.5:c.2303del ENSP00000418285.1:p.Gln768ArgfsTer5
NM_004369.3:c.4124del , LRG_473t1:c.4124del NP_004360.2:p.Gln1375ArgfsTer5
NM_057164.4:c.2903del NP_476505.3:p.Gln968ArgfsTer5
NM_057165.4:c.3506del NP_476506.3:p.Gln1169ArgfsTer5
NM_057166.4:c.2303del NP_476507.3:p.Gln768ArgfsTer5
NM_057167.3:c.3506del NP_476508.2:p.Gln1169ArgfsTer5
XM_005246065.1:c.3524del XP_005246122.1:p.Gln1175ArgfsTer5
XM_005246066.1:c.2903del XP_005246123.1:p.Gln968ArgfsTer5
XM_006712253.1:c.4124del XP_006712316.1:p.Gln1375ArgfsTer5
XM_011510574.1:c.4124del XP_011508876.1:p.Gln1375ArgfsTer5
XM_011510575.1:c.1718del XP_011508877.1:p.Gln573ArgfsTer5
XM_017003304.1:c.1718del XP_016858793.1:p.Gln573ArgfsTer5
XM_024452684.1:c.2903del XP_024308452.1:p.Gln968ArgfsTer5
NM_004369.4:c.4124del MANE Select NP_004360.2:p.Gln1375ArgfsTer5
NM_057164.5:c.2903del NP_476505.3:p.Gln968ArgfsTer5
NM_057165.5:c.3506del NP_476506.3:p.Gln1169ArgfsTer5
NM_057166.5:c.2303del NP_476507.3:p.Gln768ArgfsTer5
NM_057167.4:c.3506del NP_476508.2:p.Gln1169ArgfsTer5