Canonical Allele Identifier: CA2212010247

Gene: ACSM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479453_20479454delinsCG , CM000678.2:g.20479453_20479454delinsCG	GRCh38
NC_000016.9:g.20490775_20490776delinsCG , CM000678.1:g.20490775_20490776delinsCG	GRCh37
NC_000016.8:g.20398276_20398277delinsCG	NCBI36
NG_054721.1:g.32993_32994delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+776_1281+777delinsCG MANE Select	ENSP00000459451.1:n.1281+776_1281+777delinsCG
ENST00000219054.10:c.1281+776_1281+777delinsCG	ENSP00000219054.6:n.1281+776_1281+777delinsCG
ENST00000396104.2:c.1281+776_1281+777delinsCG	ENSP00000379411.2:n.1281+776_1281+777delinsCG
ENST00000417235.6:c.1044+776_1044+777delinsCG	ENSP00000392169.2:n.1044+776_1044+777delinsCG
ENST00000570698.5:n.1456+776_1456+777delinsCG
ENST00000572843.5:n.1476+776_1476+777delinsCG
ENST00000573854.5:c.1281+776_1281+777delinsCG	ENSP00000459451.1:n.1281+776_1281+777delinsCG
ENST00000575558.5:n.1210+776_1210+777delinsCG
ENST00000575690.5:c.1281+776_1281+777delinsCG	ENSP00000460349.1:n.1281+776_1281+777delinsCG
ENST00000576101.1:n.1033+776_1033+777delinsCG
NM_001010845.2:c.1281+776_1281+777delinsCG	NP_001010845.1:n.1281+776_1281+777delinsCG
NM_001308169.1:c.1044+776_1044+777delinsCG	NP_001295098.1:n.1044+776_1044+777delinsCG
NM_001308172.1:c.1281+776_1281+777delinsCG	NP_001295101.1:n.1281+776_1281+777delinsCG
NM_001308954.1:c.1281+776_1281+777delinsCG	NP_001295883.1:n.1281+776_1281+777delinsCG
XR_243259.2:n.2281+776_2281+777delinsCG
XM_017022923.1:c.1281+776_1281+777delinsCG	XP_016878412.1:n.1281+776_1281+777delinsCG
XM_017022924.2:c.*379_*380delinsCG	XP_016878413.1:n.*379_*380delinsCG
XM_017022925.1:c.1044+776_1044+777delinsCG	XP_016878414.1:n.1044+776_1044+777delinsCG
XM_017022926.2:c.594+776_594+777delinsCG	XP_016878415.1:n.594+776_594+777delinsCG
XR_001751834.2:n.2490+776_2490+777delinsCG
NM_001308172.2:c.1281+776_1281+777delinsCG MANE Select	NP_001295101.1:n.1281+776_1281+777delinsCG
NM_001308169.2:c.1044+776_1044+777delinsCG	NP_001295098.1:n.1044+776_1044+777delinsCG
NM_001308954.2:c.1281+776_1281+777delinsCG	NP_001295883.1:n.1281+776_1281+777delinsCG