Canonical Allele Identifier: CA2806174768

Gene: ACSM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479580_20479581insTA , CM000678.2:g.20479580_20479581insTA	GRCh38
NC_000016.9:g.20490902_20490903insTA , CM000678.1:g.20490902_20490903insTA	GRCh37
NC_000016.8:g.20398403_20398404insTA	NCBI36
NG_054721.1:g.33120_33121insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+903_1281+904insTA MANE Select	ENSP00000459451.1:n.1281+903_1281+904insTA
ENST00000219054.10:c.1281+903_1281+904insTA	ENSP00000219054.6:n.1281+903_1281+904insTA
ENST00000396104.2:c.1281+903_1281+904insTA	ENSP00000379411.2:n.1281+903_1281+904insTA
ENST00000417235.6:c.1044+903_1044+904insTA	ENSP00000392169.2:n.1044+903_1044+904insTA
ENST00000570698.5:n.1456+903_1456+904insTA
ENST00000572843.5:n.1476+903_1476+904insTA
ENST00000573854.5:c.1281+903_1281+904insTA	ENSP00000459451.1:n.1281+903_1281+904insTA
ENST00000575558.5:n.1210+903_1210+904insTA
ENST00000575690.5:c.1281+903_1281+904insTA	ENSP00000460349.1:n.1281+903_1281+904insTA
ENST00000576101.1:n.1033+903_1033+904insTA
NM_001010845.2:c.1281+903_1281+904insTA	NP_001010845.1:n.1281+903_1281+904insTA
NM_001308169.1:c.1044+903_1044+904insTA	NP_001295098.1:n.1044+903_1044+904insTA
NM_001308172.1:c.1281+903_1281+904insTA	NP_001295101.1:n.1281+903_1281+904insTA
NM_001308954.1:c.1281+903_1281+904insTA	NP_001295883.1:n.1281+903_1281+904insTA
XR_243259.2:n.2281+903_2281+904insTA
XM_017022923.1:c.1281+903_1281+904insTA	XP_016878412.1:n.1281+903_1281+904insTA
XM_017022924.2:c.*506_*507insTA	XP_016878413.1:n.*506_*507insTA
XM_017022925.1:c.1044+903_1044+904insTA	XP_016878414.1:n.1044+903_1044+904insTA
XM_017022926.2:c.594+903_594+904insTA	XP_016878415.1:n.594+903_594+904insTA
XR_001751834.2:n.2490+903_2490+904insTA
NM_001308172.2:c.1281+903_1281+904insTA MANE Select	NP_001295101.1:n.1281+903_1281+904insTA
NM_001308169.2:c.1044+903_1044+904insTA	NP_001295098.1:n.1044+903_1044+904insTA
NM_001308954.2:c.1281+903_1281+904insTA	NP_001295883.1:n.1281+903_1281+904insTA