Canonical Allele Identifier: CA2212010249

Gene: ACSM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479456_20479457delinsGT , CM000678.2:g.20479456_20479457delinsGT	GRCh38
NC_000016.9:g.20490778_20490779delinsGT , CM000678.1:g.20490778_20490779delinsGT	GRCh37
NC_000016.8:g.20398279_20398280delinsGT	NCBI36
NG_054721.1:g.32996_32997delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+779_1281+780delinsGT MANE Select	ENSP00000459451.1:n.1281+779_1281+780delinsGT
ENST00000219054.10:c.1281+779_1281+780delinsGT	ENSP00000219054.6:n.1281+779_1281+780delinsGT
ENST00000396104.2:c.1281+779_1281+780delinsGT	ENSP00000379411.2:n.1281+779_1281+780delinsGT
ENST00000417235.6:c.1044+779_1044+780delinsGT	ENSP00000392169.2:n.1044+779_1044+780delinsGT
ENST00000570698.5:n.1456+779_1456+780delinsGT
ENST00000572843.5:n.1476+779_1476+780delinsGT
ENST00000573854.5:c.1281+779_1281+780delinsGT	ENSP00000459451.1:n.1281+779_1281+780delinsGT
ENST00000575558.5:n.1210+779_1210+780delinsGT
ENST00000575690.5:c.1281+779_1281+780delinsGT	ENSP00000460349.1:n.1281+779_1281+780delinsGT
ENST00000576101.1:n.1033+779_1033+780delinsGT
NM_001010845.2:c.1281+779_1281+780delinsGT	NP_001010845.1:n.1281+779_1281+780delinsGT
NM_001308169.1:c.1044+779_1044+780delinsGT	NP_001295098.1:n.1044+779_1044+780delinsGT
NM_001308172.1:c.1281+779_1281+780delinsGT	NP_001295101.1:n.1281+779_1281+780delinsGT
NM_001308954.1:c.1281+779_1281+780delinsGT	NP_001295883.1:n.1281+779_1281+780delinsGT
XR_243259.2:n.2281+779_2281+780delinsGT
XM_017022923.1:c.1281+779_1281+780delinsGT	XP_016878412.1:n.1281+779_1281+780delinsGT
XM_017022924.2:c.*382_*383delinsGT	XP_016878413.1:n.*382_*383delinsGT
XM_017022925.1:c.1044+779_1044+780delinsGT	XP_016878414.1:n.1044+779_1044+780delinsGT
XM_017022926.2:c.594+779_594+780delinsGT	XP_016878415.1:n.594+779_594+780delinsGT
XR_001751834.2:n.2490+779_2490+780delinsGT
NM_001308172.2:c.1281+779_1281+780delinsGT MANE Select	NP_001295101.1:n.1281+779_1281+780delinsGT
NM_001308169.2:c.1044+779_1044+780delinsGT	NP_001295098.1:n.1044+779_1044+780delinsGT
NM_001308954.2:c.1281+779_1281+780delinsGT	NP_001295883.1:n.1281+779_1281+780delinsGT