Canonical Allele Identifier: CA718951404

Gene: ACSM2A

Linked Data

• dbSNP Id: rs1418287722
• gnomAD v3: 16-20479546-CGTGA-C
• gnomAD v4: 16-20479546-CGTGA-C
• MyVariant Identifiers: chr16:g.20490869_20490872del (hg19) ; chr16:g.20479547_20479550del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479550_20479553del , CM000678.2:g.20479550_20479553del	GRCh38
NC_000016.9:g.20490872_20490875del , CM000678.1:g.20490872_20490875del	GRCh37
NC_000016.8:g.20398373_20398376del	NCBI36
NG_054721.1:g.33090_33093del

Transcript Alleles

HGVS	Amino-acid change
ENST00000573854.6:c.1281+873_1281+876del MANE Select	ENSP00000459451.1:n.1281+873_1281+876del
ENST00000219054.10:c.1281+873_1281+876del	ENSP00000219054.6:n.1281+873_1281+876del
ENST00000396104.2:c.1281+873_1281+876del	ENSP00000379411.2:n.1281+873_1281+876del
ENST00000417235.6:c.1044+873_1044+876del	ENSP00000392169.2:n.1044+873_1044+876del
ENST00000570698.5:n.1456+873_1456+876del
ENST00000572843.5:n.1476+873_1476+876del
ENST00000573854.5:c.1281+873_1281+876del	ENSP00000459451.1:n.1281+873_1281+876del
ENST00000575558.5:n.1210+873_1210+876del
ENST00000575690.5:c.1281+873_1281+876del	ENSP00000460349.1:n.1281+873_1281+876del
ENST00000576101.1:n.1033+873_1033+876del
NM_001010845.2:c.1281+873_1281+876del	NP_001010845.1:n.1281+873_1281+876del
NM_001308169.1:c.1044+873_1044+876del	NP_001295098.1:n.1044+873_1044+876del
NM_001308172.1:c.1281+873_1281+876del	NP_001295101.1:n.1281+873_1281+876del
NM_001308954.1:c.1281+873_1281+876del	NP_001295883.1:n.1281+873_1281+876del
XR_243259.2:n.2281+873_2281+876del
XM_017022923.1:c.1281+873_1281+876del	XP_016878412.1:n.1281+873_1281+876del
XM_017022924.2:c.*476_*479del	XP_016878413.1:n.*476_*479del
XM_017022925.1:c.1044+873_1044+876del	XP_016878414.1:n.1044+873_1044+876del
XM_017022926.2:c.594+873_594+876del	XP_016878415.1:n.594+873_594+876del
XR_001751834.2:n.2490+873_2490+876del
NM_001308172.2:c.1281+873_1281+876del MANE Select	NP_001295101.1:n.1281+873_1281+876del
NM_001308169.2:c.1044+873_1044+876del	NP_001295098.1:n.1044+873_1044+876del
NM_001308954.2:c.1281+873_1281+876del	NP_001295883.1:n.1281+873_1281+876del