Canonical Allele Identifier: CA2212010138

Gene: ACSM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479269_20479274delinsATTGAT , CM000678.2:g.20479269_20479274delinsATTGAT	GRCh38
NC_000016.9:g.20490591_20490596delinsATTGAT , CM000678.1:g.20490591_20490596delinsATTGAT	GRCh37
NC_000016.8:g.20398092_20398097delinsATTGAT	NCBI36
NG_054721.1:g.32809_32814delinsATTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+592_1281+597delinsATTGAT MANE Select	ENSP00000459451.1:n.1281+592_1281+597delinsATTGAT
ENST00000219054.10:c.1281+592_1281+597delinsATTGAT	ENSP00000219054.6:n.1281+592_1281+597delinsATTGAT
ENST00000396104.2:c.1281+592_1281+597delinsATTGAT	ENSP00000379411.2:n.1281+592_1281+597delinsATTGAT
ENST00000417235.6:c.1044+592_1044+597delinsATTGAT	ENSP00000392169.2:n.1044+592_1044+597delinsATTGAT
ENST00000570698.5:n.1456+592_1456+597delinsATTGAT
ENST00000572843.5:n.1476+592_1476+597delinsATTGAT
ENST00000573854.5:c.1281+592_1281+597delinsATTGAT	ENSP00000459451.1:n.1281+592_1281+597delinsATTGAT
ENST00000575558.5:n.1210+592_1210+597delinsATTGAT
ENST00000575690.5:c.1281+592_1281+597delinsATTGAT	ENSP00000460349.1:n.1281+592_1281+597delinsATTGAT
ENST00000576101.1:n.1033+592_1033+597delinsATTGAT
NM_001010845.2:c.1281+592_1281+597delinsATTGAT	NP_001010845.1:n.1281+592_1281+597delinsATTGAT
NM_001308169.1:c.1044+592_1044+597delinsATTGAT	NP_001295098.1:n.1044+592_1044+597delinsATTGAT
NM_001308172.1:c.1281+592_1281+597delinsATTGAT	NP_001295101.1:n.1281+592_1281+597delinsATTGAT
NM_001308954.1:c.1281+592_1281+597delinsATTGAT	NP_001295883.1:n.1281+592_1281+597delinsATTGAT
XR_243259.2:n.2281+592_2281+597delinsATTGAT
XM_017022923.1:c.1281+592_1281+597delinsATTGAT	XP_016878412.1:n.1281+592_1281+597delinsATTGAT
XM_017022924.2:c.*195_*200delinsATTGAT	XP_016878413.1:n.*195_*200delinsATTGAT
XM_017022925.1:c.1044+592_1044+597delinsATTGAT	XP_016878414.1:n.1044+592_1044+597delinsATTGAT
XM_017022926.2:c.594+592_594+597delinsATTGAT	XP_016878415.1:n.594+592_594+597delinsATTGAT
XR_001751834.2:n.2490+592_2490+597delinsATTGAT
NM_001308172.2:c.1281+592_1281+597delinsATTGAT MANE Select	NP_001295101.1:n.1281+592_1281+597delinsATTGAT
NM_001308169.2:c.1044+592_1044+597delinsATTGAT	NP_001295098.1:n.1044+592_1044+597delinsATTGAT
NM_001308954.2:c.1281+592_1281+597delinsATTGAT	NP_001295883.1:n.1281+592_1281+597delinsATTGAT