Canonical Allele Identifier: CA281737

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975963_47976070del , CM000674.2:g.47975963_47976070del	GRCh38
NC_000012.11:g.48369746_48369853del , CM000674.1:g.48369746_48369853del	GRCh37
NC_000012.10:g.46656013_46656120del	NCBI36
NG_008072.1:g.33434_33541del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3284_3390+1del
ENST00000380518.8:c.3491_3597+1del
ENST00000337299.6:c.3284_3390+1del
ENST00000380518.7:c.3491_3597+1del
ENST00000493991.5:n.2577_2683+1del
ENST00000546974.1:n.344_450+1del
NM_001844.4:c.3491_3597+1del
NM_033150.2:c.3284_3390+1del
XM_006719242.2:c.3635_3741+1del
XM_011537928.1:c.3635_3741+1del
XM_011537929.1:c.3635_3741+1del
XM_011537930.1:c.3635_3741+1del
XM_011537931.1:c.3635_3741+1del
XM_011537932.1:c.3635_3741+1del
XM_011537933.1:c.3635_3741+1del
XM_011537934.1:c.3632_3738+1del
XM_011537935.1:c.2579_2685+1del
XM_017018828.1:c.3635_3741+1del
XM_017018829.1:c.3632_3738+1del
XM_017018830.1:c.3425_3531+1del
XM_017018831.2:c.2945_3051+1del
NM_001844.5:c.3491_3597+1del
NM_033150.3:c.3284_3390+1del