Canonical Allele Identifier: CA2806174767

Gene: ACSM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479575_20479576del , CM000678.2:g.20479575_20479576del	GRCh38
NC_000016.9:g.20490897_20490898del , CM000678.1:g.20490897_20490898del	GRCh37
NC_000016.8:g.20398398_20398399del	NCBI36
NG_054721.1:g.33115_33116del

Transcript Alleles

HGVS	Amino-acid change
ENST00000573854.6:c.1281+898_1281+899del MANE Select	ENSP00000459451.1:n.1281+898_1281+899del
ENST00000219054.10:c.1281+898_1281+899del	ENSP00000219054.6:n.1281+898_1281+899del
ENST00000396104.2:c.1281+898_1281+899del	ENSP00000379411.2:n.1281+898_1281+899del
ENST00000417235.6:c.1044+898_1044+899del	ENSP00000392169.2:n.1044+898_1044+899del
ENST00000570698.5:n.1456+898_1456+899del
ENST00000572843.5:n.1476+898_1476+899del
ENST00000573854.5:c.1281+898_1281+899del	ENSP00000459451.1:n.1281+898_1281+899del
ENST00000575558.5:n.1210+898_1210+899del
ENST00000575690.5:c.1281+898_1281+899del	ENSP00000460349.1:n.1281+898_1281+899del
ENST00000576101.1:n.1033+898_1033+899del
NM_001010845.2:c.1281+898_1281+899del	NP_001010845.1:n.1281+898_1281+899del
NM_001308169.1:c.1044+898_1044+899del	NP_001295098.1:n.1044+898_1044+899del
NM_001308172.1:c.1281+898_1281+899del	NP_001295101.1:n.1281+898_1281+899del
NM_001308954.1:c.1281+898_1281+899del	NP_001295883.1:n.1281+898_1281+899del
XR_243259.2:n.2281+898_2281+899del
XM_017022923.1:c.1281+898_1281+899del	XP_016878412.1:n.1281+898_1281+899del
XM_017022924.2:c.*501_*502del	XP_016878413.1:n.*501_*502del
XM_017022925.1:c.1044+898_1044+899del	XP_016878414.1:n.1044+898_1044+899del
XM_017022926.2:c.594+898_594+899del	XP_016878415.1:n.594+898_594+899del
XR_001751834.2:n.2490+898_2490+899del
NM_001308172.2:c.1281+898_1281+899del MANE Select	NP_001295101.1:n.1281+898_1281+899del
NM_001308169.2:c.1044+898_1044+899del	NP_001295098.1:n.1044+898_1044+899del
NM_001308954.2:c.1281+898_1281+899del	NP_001295883.1:n.1281+898_1281+899del