Canonical Allele Identifier: CA2795863302

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47993614_47993616del , CM000674.2:g.47993614_47993616del	GRCh38
NC_000012.11:g.48387397_48387399del , CM000674.1:g.48387397_48387399del	GRCh37
NC_000012.10:g.46673664_46673666del	NCBI36
NG_008072.1:g.15888_15890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.718-113_718-111del	ENSP00000338213.6:n.718-113_718-111del
ENST00000380518.8:c.925-113_925-111del MANE Select	ENSP00000369889.3:n.925-113_925-111del
ENST00000337299.6:c.718-113_718-111del	ENSP00000338213.6:n.718-113_718-111del
ENST00000380518.7:c.925-113_925-111del	ENSP00000369889.3:n.925-113_925-111del
NM_001844.4:c.925-113_925-111del	NP_001835.3:n.925-113_925-111del
NM_033150.2:c.718-113_718-111del	NP_149162.2:n.718-113_718-111del
XM_006719242.2:c.1069-113_1069-111del	XP_006719305.2:n.1069-113_1069-111del
XM_011537928.1:c.1069-113_1069-111del	XP_011536230.1:n.1069-113_1069-111del
XM_011537929.1:c.1069-113_1069-111del	XP_011536231.1:n.1069-113_1069-111del
XM_011537930.1:c.1069-113_1069-111del	XP_011536232.1:n.1069-113_1069-111del
XM_011537931.1:c.1069-113_1069-111del	XP_011536233.1:n.1069-113_1069-111del
XM_011537932.1:c.1069-113_1069-111del	XP_011536234.1:n.1069-113_1069-111del
XM_011537933.1:c.1069-113_1069-111del	XP_011536235.1:n.1069-113_1069-111del
XM_011537934.1:c.1066-113_1066-111del	XP_011536236.1:n.1066-113_1066-111del
XM_017018828.1:c.1069-113_1069-111del	XP_016874317.1:n.1069-113_1069-111del
XM_017018829.1:c.1066-113_1066-111del	XP_016874318.1:n.1066-113_1066-111del
XM_017018830.1:c.859-113_859-111del	XP_016874319.1:n.859-113_859-111del
XM_017018831.2:c.379-113_379-111del	XP_016874320.1:n.379-113_379-111del
NM_001844.5:c.925-113_925-111del MANE Select	NP_001835.3:n.925-113_925-111del
NM_033150.3:c.718-113_718-111del	NP_149162.2:n.718-113_718-111del