Canonical Allele Identifier: CA2212010156

Gene: ACSM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479300_20479303delinsAAAT , CM000678.2:g.20479300_20479303delinsAAAT	GRCh38
NC_000016.9:g.20490622_20490625delinsAAAT , CM000678.1:g.20490622_20490625delinsAAAT	GRCh37
NC_000016.8:g.20398123_20398126delinsAAAT	NCBI36
NG_054721.1:g.32840_32843delinsAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+623_1281+626delinsAAAT MANE Select	ENSP00000459451.1:n.1281+623_1281+626delinsAAAT
ENST00000219054.10:c.1281+623_1281+626delinsAAAT	ENSP00000219054.6:n.1281+623_1281+626delinsAAAT
ENST00000396104.2:c.1281+623_1281+626delinsAAAT	ENSP00000379411.2:n.1281+623_1281+626delinsAAAT
ENST00000417235.6:c.1044+623_1044+626delinsAAAT	ENSP00000392169.2:n.1044+623_1044+626delinsAAAT
ENST00000570698.5:n.1456+623_1456+626delinsAAAT
ENST00000572843.5:n.1476+623_1476+626delinsAAAT
ENST00000573854.5:c.1281+623_1281+626delinsAAAT	ENSP00000459451.1:n.1281+623_1281+626delinsAAAT
ENST00000575558.5:n.1210+623_1210+626delinsAAAT
ENST00000575690.5:c.1281+623_1281+626delinsAAAT	ENSP00000460349.1:n.1281+623_1281+626delinsAAAT
ENST00000576101.1:n.1033+623_1033+626delinsAAAT
NM_001010845.2:c.1281+623_1281+626delinsAAAT	NP_001010845.1:n.1281+623_1281+626delinsAAAT
NM_001308169.1:c.1044+623_1044+626delinsAAAT	NP_001295098.1:n.1044+623_1044+626delinsAAAT
NM_001308172.1:c.1281+623_1281+626delinsAAAT	NP_001295101.1:n.1281+623_1281+626delinsAAAT
NM_001308954.1:c.1281+623_1281+626delinsAAAT	NP_001295883.1:n.1281+623_1281+626delinsAAAT
XR_243259.2:n.2281+623_2281+626delinsAAAT
XM_017022923.1:c.1281+623_1281+626delinsAAAT	XP_016878412.1:n.1281+623_1281+626delinsAAAT
XM_017022924.2:c.*226_*229delinsAAAT	XP_016878413.1:n.*226_*229delinsAAAT
XM_017022925.1:c.1044+623_1044+626delinsAAAT	XP_016878414.1:n.1044+623_1044+626delinsAAAT
XM_017022926.2:c.594+623_594+626delinsAAAT	XP_016878415.1:n.594+623_594+626delinsAAAT
XR_001751834.2:n.2490+623_2490+626delinsAAAT
NM_001308172.2:c.1281+623_1281+626delinsAAAT MANE Select	NP_001295101.1:n.1281+623_1281+626delinsAAAT
NM_001308169.2:c.1044+623_1044+626delinsAAAT	NP_001295098.1:n.1044+623_1044+626delinsAAAT
NM_001308954.2:c.1281+623_1281+626delinsAAAT	NP_001295883.1:n.1281+623_1281+626delinsAAAT