Canonical Allele Identifier: CA718951197

Gene: ACSM2A

Linked Data

• dbSNP Id: rs1284545719
• gnomAD v3: 16-20479282-CTAAA-C
• gnomAD v4: 16-20479282-CTAAA-C
• MyVariant Identifiers: chr16:g.20490605_20490608del (hg19) ; chr16:g.20479283_20479286del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479287_20479290del , CM000678.2:g.20479287_20479290del	GRCh38
NC_000016.9:g.20490609_20490612del , CM000678.1:g.20490609_20490612del	GRCh37
NC_000016.8:g.20398110_20398113del	NCBI36
NG_054721.1:g.32827_32830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+610_1281+613del MANE Select	ENSP00000459451.1:n.1281+610_1281+613del
ENST00000219054.10:c.1281+610_1281+613del	ENSP00000219054.6:n.1281+610_1281+613del
ENST00000396104.2:c.1281+610_1281+613del	ENSP00000379411.2:n.1281+610_1281+613del
ENST00000417235.6:c.1044+610_1044+613del	ENSP00000392169.2:n.1044+610_1044+613del
ENST00000570698.5:n.1456+610_1456+613del
ENST00000572843.5:n.1476+610_1476+613del
ENST00000573854.5:c.1281+610_1281+613del	ENSP00000459451.1:n.1281+610_1281+613del
ENST00000575558.5:n.1210+610_1210+613del
ENST00000575690.5:c.1281+610_1281+613del	ENSP00000460349.1:n.1281+610_1281+613del
ENST00000576101.1:n.1033+610_1033+613del
NM_001010845.2:c.1281+610_1281+613del	NP_001010845.1:n.1281+610_1281+613del
NM_001308169.1:c.1044+610_1044+613del	NP_001295098.1:n.1044+610_1044+613del
NM_001308172.1:c.1281+610_1281+613del	NP_001295101.1:n.1281+610_1281+613del
NM_001308954.1:c.1281+610_1281+613del	NP_001295883.1:n.1281+610_1281+613del
XR_243259.2:n.2281+610_2281+613del
XM_017022923.1:c.1281+610_1281+613del	XP_016878412.1:n.1281+610_1281+613del
XM_017022924.2:c.*213_*216del	XP_016878413.1:n.*213_*216del
XM_017022925.1:c.1044+610_1044+613del	XP_016878414.1:n.1044+610_1044+613del
XM_017022926.2:c.594+610_594+613del	XP_016878415.1:n.594+610_594+613del
XR_001751834.2:n.2490+610_2490+613del
NM_001308172.2:c.1281+610_1281+613del MANE Select	NP_001295101.1:n.1281+610_1281+613del
NM_001308169.2:c.1044+610_1044+613del	NP_001295098.1:n.1044+610_1044+613del
NM_001308954.2:c.1281+610_1281+613del	NP_001295883.1:n.1281+610_1281+613del