Canonical Allele Identifier: CA2034456572

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47986121_47986122delinsCG , CM000674.2:g.47986121_47986122delinsCG	GRCh38
NC_000012.11:g.48379904_48379905delinsCG , CM000674.1:g.48379904_48379905delinsCG	GRCh37
NC_000012.10:g.46666171_46666172delinsCG	NCBI36
NG_008072.1:g.23381_23382delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1321-157_1321-156delinsCG	ENSP00000338213.6:n.1321-157_1321-156delinsCG
ENST00000380518.8:c.1528-157_1528-156delinsCG MANE Select	ENSP00000369889.3:n.1528-157_1528-156delinsCG
ENST00000337299.6:c.1321-157_1321-156delinsCG	ENSP00000338213.6:n.1321-157_1321-156delinsCG
ENST00000380518.7:c.1528-157_1528-156delinsCG	ENSP00000369889.3:n.1528-157_1528-156delinsCG
ENST00000493991.5:n.452-157_452-156delinsCG
NM_001844.4:c.1528-157_1528-156delinsCG	NP_001835.3:n.1528-157_1528-156delinsCG
NM_033150.2:c.1321-157_1321-156delinsCG	NP_149162.2:n.1321-157_1321-156delinsCG
XM_006719242.2:c.1672-157_1672-156delinsCG	XP_006719305.2:n.1672-157_1672-156delinsCG
XM_011537928.1:c.1672-157_1672-156delinsCG	XP_011536230.1:n.1672-157_1672-156delinsCG
XM_011537929.1:c.1672-157_1672-156delinsCG	XP_011536231.1:n.1672-157_1672-156delinsCG
XM_011537930.1:c.1672-157_1672-156delinsCG	XP_011536232.1:n.1672-157_1672-156delinsCG
XM_011537931.1:c.1672-157_1672-156delinsCG	XP_011536233.1:n.1672-157_1672-156delinsCG
XM_011537932.1:c.1672-157_1672-156delinsCG	XP_011536234.1:n.1672-157_1672-156delinsCG
XM_011537933.1:c.1672-157_1672-156delinsCG	XP_011536235.1:n.1672-157_1672-156delinsCG
XM_011537934.1:c.1669-157_1669-156delinsCG	XP_011536236.1:n.1669-157_1669-156delinsCG
XM_011537935.1:c.616-157_616-156delinsCG	XP_011536237.1:n.616-157_616-156delinsCG
XM_017018828.1:c.1672-157_1672-156delinsCG	XP_016874317.1:n.1672-157_1672-156delinsCG
XM_017018829.1:c.1669-157_1669-156delinsCG	XP_016874318.1:n.1669-157_1669-156delinsCG
XM_017018830.1:c.1462-157_1462-156delinsCG	XP_016874319.1:n.1462-157_1462-156delinsCG
XM_017018831.2:c.982-157_982-156delinsCG	XP_016874320.1:n.982-157_982-156delinsCG
NM_001844.5:c.1528-157_1528-156delinsCG MANE Select	NP_001835.3:n.1528-157_1528-156delinsCG
NM_033150.3:c.1321-157_1321-156delinsCG	NP_149162.2:n.1321-157_1321-156delinsCG