Canonical Allele Identifier: CA2212010278
Gene: ACSM2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20479488_20479489delinsAT , CM000678.2:g.20479488_20479489delinsAT GRCh38
NC_000016.9:g.20490810_20490811delinsAT , CM000678.1:g.20490810_20490811delinsAT GRCh37
NC_000016.8:g.20398311_20398312delinsAT NCBI36
NG_054721.1:g.33028_33029delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000573854.6:c.1281+811_1281+812delinsAT MANE Select ENSP00000459451.1:n.1281+811_1281+812delinsAT
ENST00000219054.10:c.1281+811_1281+812delinsAT ENSP00000219054.6:n.1281+811_1281+812delinsAT
ENST00000396104.2:c.1281+811_1281+812delinsAT ENSP00000379411.2:n.1281+811_1281+812delinsAT
ENST00000417235.6:c.1044+811_1044+812delinsAT ENSP00000392169.2:n.1044+811_1044+812delinsAT
ENST00000570698.5:n.1456+811_1456+812delinsAT
ENST00000572843.5:n.1476+811_1476+812delinsAT
ENST00000573854.5:c.1281+811_1281+812delinsAT ENSP00000459451.1:n.1281+811_1281+812delinsAT
ENST00000575558.5:n.1210+811_1210+812delinsAT
ENST00000575690.5:c.1281+811_1281+812delinsAT ENSP00000460349.1:n.1281+811_1281+812delinsAT
ENST00000576101.1:n.1033+811_1033+812delinsAT
NM_001010845.2:c.1281+811_1281+812delinsAT NP_001010845.1:n.1281+811_1281+812delinsAT
NM_001308169.1:c.1044+811_1044+812delinsAT NP_001295098.1:n.1044+811_1044+812delinsAT
NM_001308172.1:c.1281+811_1281+812delinsAT NP_001295101.1:n.1281+811_1281+812delinsAT
NM_001308954.1:c.1281+811_1281+812delinsAT NP_001295883.1:n.1281+811_1281+812delinsAT
XR_243259.2:n.2281+811_2281+812delinsAT
XM_017022923.1:c.1281+811_1281+812delinsAT XP_016878412.1:n.1281+811_1281+812delinsAT
XM_017022924.2:c.*414_*415delinsAT XP_016878413.1:n.*414_*415delinsAT
XM_017022925.1:c.1044+811_1044+812delinsAT XP_016878414.1:n.1044+811_1044+812delinsAT
XM_017022926.2:c.594+811_594+812delinsAT XP_016878415.1:n.594+811_594+812delinsAT
XR_001751834.2:n.2490+811_2490+812delinsAT
NM_001308172.2:c.1281+811_1281+812delinsAT MANE Select NP_001295101.1:n.1281+811_1281+812delinsAT
NM_001308169.2:c.1044+811_1044+812delinsAT NP_001295098.1:n.1044+811_1044+812delinsAT
NM_001308954.2:c.1281+811_1281+812delinsAT NP_001295883.1:n.1281+811_1281+812delinsAT