Canonical Allele Identifier: CA2034476331

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977243_47977260delinsAGACTGCGGAAACCCAGG , CM000674.2:g.47977243_47977260delinsAGACTGCGGAAACCCAGG	GRCh38
NC_000012.11:g.48371026_48371043delinsAGACTGCGGAAACCCAGG , CM000674.1:g.48371026_48371043delinsAGACTGCGGAAACCCAGG	GRCh37
NC_000012.10:g.46657293_46657310delinsAGACTGCGGAAACCCAGG	NCBI36
NG_008072.1:g.32243_32260delinsCCTGGGTTTCCGCAGTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3066+60_3066+77delinsCCTGGGTTTCCGCAGTCT	ENSP00000338213.6:n.3066+60_3066+77delins...
ENST00000380518.8:c.3273+60_3273+77delinsCCTGGGTTTCCGCAGTCT MANE Select	ENSP00000369889.3:n.3273+60_3273+77delins...
ENST00000337299.6:c.3066+60_3066+77delinsCCTGGGTTTCCGCAGTCT	ENSP00000338213.6:n.3066+60_3066+77delins...
ENST00000380518.7:c.3273+60_3273+77delinsCCTGGGTTTCCGCAGTCT	ENSP00000369889.3:n.3273+60_3273+77delins...
ENST00000493991.5:n.2359+60_2359+77delinsCCTGGGTTTCCGCAGTCT
ENST00000546974.1:n.126+60_126+77delinsCCTGGGTTTCCGCAGTCT
NM_001844.4:c.3273+60_3273+77delinsCCTGGGTTTCCGCAGTCT	NP_001835.3:n.3273+60_3273+77delinsCCTGGG...
NM_033150.2:c.3066+60_3066+77delinsCCTGGGTTTCCGCAGTCT	NP_149162.2:n.3066+60_3066+77delinsCCTGGG...
XM_006719242.2:c.3417+60_3417+77delinsCCTGGGTTTCCGCAGTCT	XP_006719305.2:n.3417+60_3417+77delinsCCT...
XM_011537928.1:c.3417+60_3417+77delinsCCTGGGTTTCCGCAGTCT	XP_011536230.1:n.3417+60_3417+77delinsCCT...
XM_011537929.1:c.3417+60_3417+77delinsCCTGGGTTTCCGCAGTCT	XP_011536231.1:n.3417+60_3417+77delinsCCT...
XM_011537930.1:c.3417+60_3417+77delinsCCTGGGTTTCCGCAGTCT	XP_011536232.1:n.3417+60_3417+77delinsCCT...
XM_011537931.1:c.3417+60_3417+77delinsCCTGGGTTTCCGCAGTCT	XP_011536233.1:n.3417+60_3417+77delinsCCT...
XM_011537932.1:c.3417+60_3417+77delinsCCTGGGTTTCCGCAGTCT	XP_011536234.1:n.3417+60_3417+77delinsCCT...
XM_011537933.1:c.3417+60_3417+77delinsCCTGGGTTTCCGCAGTCT	XP_011536235.1:n.3417+60_3417+77delinsCCT...
XM_011537934.1:c.3414+60_3414+77delinsCCTGGGTTTCCGCAGTCT	XP_011536236.1:n.3414+60_3414+77delinsCCT...
XM_011537935.1:c.2361+60_2361+77delinsCCTGGGTTTCCGCAGTCT	XP_011536237.1:n.2361+60_2361+77delinsCCT...
XM_017018828.1:c.3417+60_3417+77delinsCCTGGGTTTCCGCAGTCT	XP_016874317.1:n.3417+60_3417+77delinsCCT...
XM_017018829.1:c.3414+60_3414+77delinsCCTGGGTTTCCGCAGTCT	XP_016874318.1:n.3414+60_3414+77delinsCCT...
XM_017018830.1:c.3207+60_3207+77delinsCCTGGGTTTCCGCAGTCT	XP_016874319.1:n.3207+60_3207+77delinsCCT...
XM_017018831.2:c.2727+60_2727+77delinsCCTGGGTTTCCGCAGTCT	XP_016874320.1:n.2727+60_2727+77delinsCCT...
NM_001844.5:c.3273+60_3273+77delinsCCTGGGTTTCCGCAGTCT MANE Select	NP_001835.3:n.3273+60_3273+77delinsCCTGGG...
NM_033150.3:c.3066+60_3066+77delinsCCTGGGTTTCCGCAGTCT	NP_149162.2:n.3066+60_3066+77delinsCCTGGG...