Canonical Allele Identifier: CA2795861731

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47974371_47974454del , CM000674.2:g.47974371_47974454del	GRCh38
NC_000012.11:g.48368154_48368237del , CM000674.1:g.48368154_48368237del	GRCh37
NC_000012.10:g.46654421_46654504del	NCBI36
NG_008072.1:g.35056_35139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3868-116_3868-33del	ENSP00000338213.6:n.3868-116_3868-33del
ENST00000380518.8:c.4075-116_4075-33del MANE Select	ENSP00000369889.3:n.4075-116_4075-33del
ENST00000337299.6:c.3868-116_3868-33del	ENSP00000338213.6:n.3868-116_3868-33del
ENST00000380518.7:c.4075-116_4075-33del	ENSP00000369889.3:n.4075-116_4075-33del
ENST00000493991.5:n.3161-116_3161-33del
NM_001844.4:c.4075-116_4075-33del	NP_001835.3:n.4075-116_4075-33del
NM_033150.2:c.3868-116_3868-33del	NP_149162.2:n.3868-116_3868-33del
XM_006719242.2:c.4219-116_4219-33del	XP_006719305.2:n.4219-116_4219-33del
XM_011537928.1:c.4219-116_4219-33del	XP_011536230.1:n.4219-116_4219-33del
XM_011537929.1:c.4219-116_4219-33del	XP_011536231.1:n.4219-116_4219-33del
XM_011537930.1:c.4219-116_4219-33del	XP_011536232.1:n.4219-116_4219-33del
XM_011537931.1:c.4219-116_4219-33del	XP_011536233.1:n.4219-116_4219-33del
XM_011537932.1:c.4219-116_4219-33del	XP_011536234.1:n.4219-116_4219-33del
XM_011537933.1:c.4219-116_4219-33del	XP_011536235.1:n.4219-116_4219-33del
XM_011537934.1:c.4216-116_4216-33del	XP_011536236.1:n.4216-116_4216-33del
XM_011537935.1:c.3163-116_3163-33del	XP_011536237.1:n.3163-116_3163-33del
XM_017018828.1:c.4219-116_4219-33del	XP_016874317.1:n.4219-116_4219-33del
XM_017018829.1:c.4216-116_4216-33del	XP_016874318.1:n.4216-116_4216-33del
XM_017018830.1:c.4009-116_4009-33del	XP_016874319.1:n.4009-116_4009-33del
XM_017018831.2:c.3529-116_3529-33del	XP_016874320.1:n.3529-116_3529-33del
NM_001844.5:c.4075-116_4075-33del MANE Select	NP_001835.3:n.4075-116_4075-33del
NM_033150.3:c.3868-116_3868-33del	NP_149162.2:n.3868-116_3868-33del