Canonical Allele Identifier: CA1139770973

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985729del , CM000674.2:g.47985729del	GRCh38
NC_000012.11:g.48379512del , CM000674.1:g.48379512del	GRCh37
NC_000012.10:g.46665779del	NCBI36
NG_008072.1:g.23776del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.1473+1del
ENST00000380518.8:c.1680+1del
ENST00000337299.6:c.1473+1del
ENST00000380518.7:c.1680+1del
ENST00000493991.5:n.604+1del
NM_001844.4:c.1680+1del
NM_033150.2:c.1473+1del
XM_006719242.2:c.1824+1del
XM_011537928.1:c.1824+1del
XM_011537929.1:c.1824+1del
XM_011537930.1:c.1824+1del
XM_011537931.1:c.1824+1del
XM_011537932.1:c.1824+1del
XM_011537933.1:c.1824+1del
XM_011537934.1:c.1821+1del
XM_011537935.1:c.768+1del
XM_017018828.1:c.1824+1del
XM_017018829.1:c.1821+1del
XM_017018830.1:c.1614+1del
XM_017018831.2:c.1134+1del
NM_001844.5:c.1680+1del
NM_033150.3:c.1473+1del