Canonical Allele Identifier: CA2034490328

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48001293_48001295delinsAAG , CM000674.2:g.48001293_48001295delinsAAG	GRCh38
NC_000012.11:g.48395076_48395078delinsAAG , CM000674.1:g.48395076_48395078delinsAAG	GRCh37
NC_000012.10:g.46681343_46681345delinsAAG	NCBI36
NG_008072.1:g.8208_8210delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.86-2864_86-2862delinsCTT	ENSP00000338213.6:n.86-2864_86-2862delins...
ENST00000380518.8:c.86-1170_86-1168delinsCTT MANE Select	ENSP00000369889.3:n.86-1170_86-1168delins...
ENST00000490609.2:n.319-1170_319-1168delinsCTT
ENST00000337299.6:c.86-2864_86-2862delinsCTT	ENSP00000338213.6:n.86-2864_86-2862delins...
ENST00000380518.7:c.86-1170_86-1168delinsCTT	ENSP00000369889.3:n.86-1170_86-1168delins...
ENST00000474996.6:n.214-201_214-199delinsCTT
ENST00000490609.1:n.251-1170_251-1168delinsCTT
NM_001844.4:c.86-1170_86-1168delinsCTT	NP_001835.3:n.86-1170_86-1168delinsCTT
NM_033150.2:c.86-2864_86-2862delinsCTT	NP_149162.2:n.86-2864_86-2862delinsCTT
XM_006719242.2:c.227-1170_227-1168delinsCTT	XP_006719305.2:n.227-1170_227-1168delinsC...
XM_011537928.1:c.227-1170_227-1168delinsCTT	XP_011536230.1:n.227-1170_227-1168delinsC...
XM_011537929.1:c.227-1170_227-1168delinsCTT	XP_011536231.1:n.227-1170_227-1168delinsC...
XM_011537930.1:c.227-1170_227-1168delinsCTT	XP_011536232.1:n.227-1170_227-1168delinsC...
XM_011537931.1:c.227-1170_227-1168delinsCTT	XP_011536233.1:n.227-1170_227-1168delinsC...
XM_011537932.1:c.227-1170_227-1168delinsCTT	XP_011536234.1:n.227-1170_227-1168delinsC...
XM_011537933.1:c.227-1170_227-1168delinsCTT	XP_011536235.1:n.227-1170_227-1168delinsC...
XM_011537934.1:c.227-1170_227-1168delinsCTT	XP_011536236.1:n.227-1170_227-1168delinsC...
XM_017018828.1:c.227-1170_227-1168delinsCTT	XP_016874317.1:n.227-1170_227-1168delinsC...
XM_017018829.1:c.227-1170_227-1168delinsCTT	XP_016874318.1:n.227-1170_227-1168delinsC...
XM_017018830.1:c.227-2864_227-2862delinsCTT	XP_016874319.1:n.227-2864_227-2862delinsC...
XM_017018831.2:c.-772_-770delinsCTT	XP_016874320.1:n.-772_-770delinsCTT
NM_001844.5:c.86-1170_86-1168delinsCTT MANE Select	NP_001835.3:n.86-1170_86-1168delinsCTT
NM_033150.3:c.86-2864_86-2862delinsCTT	NP_149162.2:n.86-2864_86-2862delinsCTT