Canonical Allele Identifier: CA2795863159

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47986107_47986120del , CM000674.2:g.47986107_47986120del	GRCh38
NC_000012.11:g.48379890_48379903del , CM000674.1:g.48379890_48379903del	GRCh37
NC_000012.10:g.46666157_46666170del	NCBI36
NG_008072.1:g.23383_23396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1321-155_1321-142del	ENSP00000338213.6:n.1321-155_1321-142del
ENST00000380518.8:c.1528-155_1528-142del MANE Select	ENSP00000369889.3:n.1528-155_1528-142del
ENST00000337299.6:c.1321-155_1321-142del	ENSP00000338213.6:n.1321-155_1321-142del
ENST00000380518.7:c.1528-155_1528-142del	ENSP00000369889.3:n.1528-155_1528-142del
ENST00000493991.5:n.452-155_452-142del
NM_001844.4:c.1528-155_1528-142del	NP_001835.3:n.1528-155_1528-142del
NM_033150.2:c.1321-155_1321-142del	NP_149162.2:n.1321-155_1321-142del
XM_006719242.2:c.1672-155_1672-142del	XP_006719305.2:n.1672-155_1672-142del
XM_011537928.1:c.1672-155_1672-142del	XP_011536230.1:n.1672-155_1672-142del
XM_011537929.1:c.1672-155_1672-142del	XP_011536231.1:n.1672-155_1672-142del
XM_011537930.1:c.1672-155_1672-142del	XP_011536232.1:n.1672-155_1672-142del
XM_011537931.1:c.1672-155_1672-142del	XP_011536233.1:n.1672-155_1672-142del
XM_011537932.1:c.1672-155_1672-142del	XP_011536234.1:n.1672-155_1672-142del
XM_011537933.1:c.1672-155_1672-142del	XP_011536235.1:n.1672-155_1672-142del
XM_011537934.1:c.1669-155_1669-142del	XP_011536236.1:n.1669-155_1669-142del
XM_011537935.1:c.616-155_616-142del	XP_011536237.1:n.616-155_616-142del
XM_017018828.1:c.1672-155_1672-142del	XP_016874317.1:n.1672-155_1672-142del
XM_017018829.1:c.1669-155_1669-142del	XP_016874318.1:n.1669-155_1669-142del
XM_017018830.1:c.1462-155_1462-142del	XP_016874319.1:n.1462-155_1462-142del
XM_017018831.2:c.982-155_982-142del	XP_016874320.1:n.982-155_982-142del
NM_001844.5:c.1528-155_1528-142del MANE Select	NP_001835.3:n.1528-155_1528-142del
NM_033150.3:c.1321-155_1321-142del	NP_149162.2:n.1321-155_1321-142del