Canonical Allele Identifier: CA2034456596

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47986149_47986150delinsTC , CM000674.2:g.47986149_47986150delinsTC	GRCh38
NC_000012.11:g.48379932_48379933delinsTC , CM000674.1:g.48379932_48379933delinsTC	GRCh37
NC_000012.10:g.46666199_46666200delinsTC	NCBI36
NG_008072.1:g.23353_23354delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1321-185_1321-184delinsGA	ENSP00000338213.6:n.1321-185_1321-184delinsGA
ENST00000380518.8:c.1528-185_1528-184delinsGA MANE Select	ENSP00000369889.3:n.1528-185_1528-184delinsGA
ENST00000337299.6:c.1321-185_1321-184delinsGA	ENSP00000338213.6:n.1321-185_1321-184delinsGA
ENST00000380518.7:c.1528-185_1528-184delinsGA	ENSP00000369889.3:n.1528-185_1528-184delinsGA
ENST00000493991.5:n.452-185_452-184delinsGA
NM_001844.4:c.1528-185_1528-184delinsGA	NP_001835.3:n.1528-185_1528-184delinsGA
NM_033150.2:c.1321-185_1321-184delinsGA	NP_149162.2:n.1321-185_1321-184delinsGA
XM_006719242.2:c.1672-185_1672-184delinsGA	XP_006719305.2:n.1672-185_1672-184delinsGA
XM_011537928.1:c.1672-185_1672-184delinsGA	XP_011536230.1:n.1672-185_1672-184delinsGA
XM_011537929.1:c.1672-185_1672-184delinsGA	XP_011536231.1:n.1672-185_1672-184delinsGA
XM_011537930.1:c.1672-185_1672-184delinsGA	XP_011536232.1:n.1672-185_1672-184delinsGA
XM_011537931.1:c.1672-185_1672-184delinsGA	XP_011536233.1:n.1672-185_1672-184delinsGA
XM_011537932.1:c.1672-185_1672-184delinsGA	XP_011536234.1:n.1672-185_1672-184delinsGA
XM_011537933.1:c.1672-185_1672-184delinsGA	XP_011536235.1:n.1672-185_1672-184delinsGA
XM_011537934.1:c.1669-185_1669-184delinsGA	XP_011536236.1:n.1669-185_1669-184delinsGA
XM_011537935.1:c.616-185_616-184delinsGA	XP_011536237.1:n.616-185_616-184delinsGA
XM_017018828.1:c.1672-185_1672-184delinsGA	XP_016874317.1:n.1672-185_1672-184delinsGA
XM_017018829.1:c.1669-185_1669-184delinsGA	XP_016874318.1:n.1669-185_1669-184delinsGA
XM_017018830.1:c.1462-185_1462-184delinsGA	XP_016874319.1:n.1462-185_1462-184delinsGA
XM_017018831.2:c.982-185_982-184delinsGA	XP_016874320.1:n.982-185_982-184delinsGA
NM_001844.5:c.1528-185_1528-184delinsGA MANE Select	NP_001835.3:n.1528-185_1528-184delinsGA
NM_033150.3:c.1321-185_1321-184delinsGA	NP_149162.2:n.1321-185_1321-184delinsGA