Canonical Allele Identifier: CA621268503

Gene: ACSM2A

Linked Data

• dbSNP Id: rs1288955153
• gnomAD v2: 16-20490610-A-AAAT
• gnomAD v3: 16-20479288-A-AAAT
• gnomAD v4: 16-20479288-A-AAAT
• MyVariant Identifiers: chr16:g.20490610_20490611insAAT (hg19) ; chr16:g.20479288_20479289insAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479290_20479291insTAA , CM000678.2:g.20479290_20479291insTAA	GRCh38
NC_000016.9:g.20490612_20490613insTAA , CM000678.1:g.20490612_20490613insTAA	GRCh37
NC_000016.8:g.20398113_20398114insTAA	NCBI36
NG_054721.1:g.32830_32831insTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+613_1281+614insTAA MANE Select	ENSP00000459451.1:n.1281+613_1281+614insTAA
ENST00000219054.10:c.1281+613_1281+614insTAA	ENSP00000219054.6:n.1281+613_1281+614insTAA
ENST00000396104.2:c.1281+613_1281+614insTAA	ENSP00000379411.2:n.1281+613_1281+614insTAA
ENST00000417235.6:c.1044+613_1044+614insTAA	ENSP00000392169.2:n.1044+613_1044+614insTAA
ENST00000570698.5:n.1456+613_1456+614insTAA
ENST00000572843.5:n.1476+613_1476+614insTAA
ENST00000573854.5:c.1281+613_1281+614insTAA	ENSP00000459451.1:n.1281+613_1281+614insTAA
ENST00000575558.5:n.1210+613_1210+614insTAA
ENST00000575690.5:c.1281+613_1281+614insTAA	ENSP00000460349.1:n.1281+613_1281+614insTAA
ENST00000576101.1:n.1033+613_1033+614insTAA
NM_001010845.2:c.1281+613_1281+614insTAA	NP_001010845.1:n.1281+613_1281+614insTAA
NM_001308169.1:c.1044+613_1044+614insTAA	NP_001295098.1:n.1044+613_1044+614insTAA
NM_001308172.1:c.1281+613_1281+614insTAA	NP_001295101.1:n.1281+613_1281+614insTAA
NM_001308954.1:c.1281+613_1281+614insTAA	NP_001295883.1:n.1281+613_1281+614insTAA
XR_243259.2:n.2281+613_2281+614insTAA
XM_017022923.1:c.1281+613_1281+614insTAA	XP_016878412.1:n.1281+613_1281+614insTAA
XM_017022924.2:c.*216_*217insTAA	XP_016878413.1:n.*216_*217insTAA
XM_017022925.1:c.1044+613_1044+614insTAA	XP_016878414.1:n.1044+613_1044+614insTAA
XM_017022926.2:c.594+613_594+614insTAA	XP_016878415.1:n.594+613_594+614insTAA
XR_001751834.2:n.2490+613_2490+614insTAA
NM_001308172.2:c.1281+613_1281+614insTAA MANE Select	NP_001295101.1:n.1281+613_1281+614insTAA
NM_001308169.2:c.1044+613_1044+614insTAA	NP_001295098.1:n.1044+613_1044+614insTAA
NM_001308954.2:c.1281+613_1281+614insTAA	NP_001295883.1:n.1281+613_1281+614insTAA