Canonical Allele Identifier: CA2034476802

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978274_47978278delinsGGATA , CM000674.2:g.47978274_47978278delinsGGATA	GRCh38
NC_000012.11:g.48372057_48372061delinsGGATA , CM000674.1:g.48372057_48372061delinsGGATA	GRCh37
NC_000012.10:g.46658324_46658328delinsGGATA	NCBI36
NG_008072.1:g.31225_31229delinsTATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2796+13_2796+17delinsTATCC	ENSP00000338213.6:n.2796+13_2796+17delinsTATCC
ENST00000380518.8:c.3003+13_3003+17delinsTATCC MANE Select	ENSP00000369889.3:n.3003+13_3003+17delinsTATCC
ENST00000337299.6:c.2796+13_2796+17delinsTATCC	ENSP00000338213.6:n.2796+13_2796+17delinsTATCC
ENST00000380518.7:c.3003+13_3003+17delinsTATCC	ENSP00000369889.3:n.3003+13_3003+17delinsTATCC
ENST00000493991.5:n.2089+13_2089+17delinsTATCC
NM_001844.4:c.3003+13_3003+17delinsTATCC	NP_001835.3:n.3003+13_3003+17delinsTATCC
NM_033150.2:c.2796+13_2796+17delinsTATCC	NP_149162.2:n.2796+13_2796+17delinsTATCC
XM_006719242.2:c.3147+13_3147+17delinsTATCC	XP_006719305.2:n.3147+13_3147+17delinsTATCC
XM_011537928.1:c.3147+13_3147+17delinsTATCC	XP_011536230.1:n.3147+13_3147+17delinsTATCC
XM_011537929.1:c.3147+13_3147+17delinsTATCC	XP_011536231.1:n.3147+13_3147+17delinsTATCC
XM_011537930.1:c.3147+13_3147+17delinsTATCC	XP_011536232.1:n.3147+13_3147+17delinsTATCC
XM_011537931.1:c.3147+13_3147+17delinsTATCC	XP_011536233.1:n.3147+13_3147+17delinsTATCC
XM_011537932.1:c.3147+13_3147+17delinsTATCC	XP_011536234.1:n.3147+13_3147+17delinsTATCC
XM_011537933.1:c.3147+13_3147+17delinsTATCC	XP_011536235.1:n.3147+13_3147+17delinsTATCC
XM_011537934.1:c.3144+13_3144+17delinsTATCC	XP_011536236.1:n.3144+13_3144+17delinsTATCC
XM_011537935.1:c.2091+13_2091+17delinsTATCC	XP_011536237.1:n.2091+13_2091+17delinsTATCC
XM_017018828.1:c.3147+13_3147+17delinsTATCC	XP_016874317.1:n.3147+13_3147+17delinsTATCC
XM_017018829.1:c.3144+13_3144+17delinsTATCC	XP_016874318.1:n.3144+13_3144+17delinsTATCC
XM_017018830.1:c.2937+13_2937+17delinsTATCC	XP_016874319.1:n.2937+13_2937+17delinsTATCC
XM_017018831.2:c.2457+13_2457+17delinsTATCC	XP_016874320.1:n.2457+13_2457+17delinsTATCC
NM_001844.5:c.3003+13_3003+17delinsTATCC MANE Select	NP_001835.3:n.3003+13_3003+17delinsTATCC
NM_033150.3:c.2796+13_2796+17delinsTATCC	NP_149162.2:n.2796+13_2796+17delinsTATCC