Canonical Allele Identifier: CA2806174769

Gene: ACSM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479583_20479584insC , CM000678.2:g.20479583_20479584insC	GRCh38
NC_000016.9:g.20490905_20490906insC , CM000678.1:g.20490905_20490906insC	GRCh37
NC_000016.8:g.20398406_20398407insC	NCBI36
NG_054721.1:g.33123_33124insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+906_1281+907insC MANE Select	ENSP00000459451.1:n.1281+906_1281+907insC
ENST00000219054.10:c.1281+906_1281+907insC	ENSP00000219054.6:n.1281+906_1281+907insC
ENST00000396104.2:c.1281+906_1281+907insC	ENSP00000379411.2:n.1281+906_1281+907insC
ENST00000417235.6:c.1044+906_1044+907insC	ENSP00000392169.2:n.1044+906_1044+907insC
ENST00000570698.5:n.1456+906_1456+907insC
ENST00000572843.5:n.1476+906_1476+907insC
ENST00000573854.5:c.1281+906_1281+907insC	ENSP00000459451.1:n.1281+906_1281+907insC
ENST00000575558.5:n.1210+906_1210+907insC
ENST00000575690.5:c.1281+906_1281+907insC	ENSP00000460349.1:n.1281+906_1281+907insC
ENST00000576101.1:n.1033+906_1033+907insC
NM_001010845.2:c.1281+906_1281+907insC	NP_001010845.1:n.1281+906_1281+907insC
NM_001308169.1:c.1044+906_1044+907insC	NP_001295098.1:n.1044+906_1044+907insC
NM_001308172.1:c.1281+906_1281+907insC	NP_001295101.1:n.1281+906_1281+907insC
NM_001308954.1:c.1281+906_1281+907insC	NP_001295883.1:n.1281+906_1281+907insC
XR_243259.2:n.2281+906_2281+907insC
XM_017022923.1:c.1281+906_1281+907insC	XP_016878412.1:n.1281+906_1281+907insC
XM_017022924.2:c.*509_*510insC	XP_016878413.1:n.*509_*510insC
XM_017022925.1:c.1044+906_1044+907insC	XP_016878414.1:n.1044+906_1044+907insC
XM_017022926.2:c.594+906_594+907insC	XP_016878415.1:n.594+906_594+907insC
XR_001751834.2:n.2490+906_2490+907insC
NM_001308172.2:c.1281+906_1281+907insC MANE Select	NP_001295101.1:n.1281+906_1281+907insC
NM_001308169.2:c.1044+906_1044+907insC	NP_001295098.1:n.1044+906_1044+907insC
NM_001308954.2:c.1281+906_1281+907insC	NP_001295883.1:n.1281+906_1281+907insC