Canonical Allele Identifier: CA2212010218

Gene: ACSM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479406_20479407delinsGT , CM000678.2:g.20479406_20479407delinsGT	GRCh38
NC_000016.9:g.20490728_20490729delinsGT , CM000678.1:g.20490728_20490729delinsGT	GRCh37
NC_000016.8:g.20398229_20398230delinsGT	NCBI36
NG_054721.1:g.32946_32947delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+729_1281+730delinsGT MANE Select	ENSP00000459451.1:n.1281+729_1281+730delinsGT
ENST00000219054.10:c.1281+729_1281+730delinsGT	ENSP00000219054.6:n.1281+729_1281+730delinsGT
ENST00000396104.2:c.1281+729_1281+730delinsGT	ENSP00000379411.2:n.1281+729_1281+730delinsGT
ENST00000417235.6:c.1044+729_1044+730delinsGT	ENSP00000392169.2:n.1044+729_1044+730delinsGT
ENST00000570698.5:n.1456+729_1456+730delinsGT
ENST00000572843.5:n.1476+729_1476+730delinsGT
ENST00000573854.5:c.1281+729_1281+730delinsGT	ENSP00000459451.1:n.1281+729_1281+730delinsGT
ENST00000575558.5:n.1210+729_1210+730delinsGT
ENST00000575690.5:c.1281+729_1281+730delinsGT	ENSP00000460349.1:n.1281+729_1281+730delinsGT
ENST00000576101.1:n.1033+729_1033+730delinsGT
NM_001010845.2:c.1281+729_1281+730delinsGT	NP_001010845.1:n.1281+729_1281+730delinsGT
NM_001308169.1:c.1044+729_1044+730delinsGT	NP_001295098.1:n.1044+729_1044+730delinsGT
NM_001308172.1:c.1281+729_1281+730delinsGT	NP_001295101.1:n.1281+729_1281+730delinsGT
NM_001308954.1:c.1281+729_1281+730delinsGT	NP_001295883.1:n.1281+729_1281+730delinsGT
XR_243259.2:n.2281+729_2281+730delinsGT
XM_017022923.1:c.1281+729_1281+730delinsGT	XP_016878412.1:n.1281+729_1281+730delinsGT
XM_017022924.2:c.*332_*333delinsGT	XP_016878413.1:n.*332_*333delinsGT
XM_017022925.1:c.1044+729_1044+730delinsGT	XP_016878414.1:n.1044+729_1044+730delinsGT
XM_017022926.2:c.594+729_594+730delinsGT	XP_016878415.1:n.594+729_594+730delinsGT
XR_001751834.2:n.2490+729_2490+730delinsGT
NM_001308172.2:c.1281+729_1281+730delinsGT MANE Select	NP_001295101.1:n.1281+729_1281+730delinsGT
NM_001308169.2:c.1044+729_1044+730delinsGT	NP_001295098.1:n.1044+729_1044+730delinsGT
NM_001308954.2:c.1281+729_1281+730delinsGT	NP_001295883.1:n.1281+729_1281+730delinsGT