Canonical Allele Identifier: CA975471219

Gene: ACSM2A

Linked Data

• dbSNP Id: rs2013960001
• gnomAD v3: 16-20479441-ACTCAGTTTG-A
• gnomAD v4: 16-20479441-ACTCAGTTTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479445_20479453del , CM000678.2:g.20479445_20479453del	GRCh38
NC_000016.9:g.20490767_20490775del , CM000678.1:g.20490767_20490775del	GRCh37
NC_000016.8:g.20398268_20398276del	NCBI36
NG_054721.1:g.32985_32993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+768_1281+776del MANE Select	ENSP00000459451.1:n.1281+768_1281+776del
ENST00000219054.10:c.1281+768_1281+776del	ENSP00000219054.6:n.1281+768_1281+776del
ENST00000396104.2:c.1281+768_1281+776del	ENSP00000379411.2:n.1281+768_1281+776del
ENST00000417235.6:c.1044+768_1044+776del	ENSP00000392169.2:n.1044+768_1044+776del
ENST00000570698.5:n.1456+768_1456+776del
ENST00000572843.5:n.1476+768_1476+776del
ENST00000573854.5:c.1281+768_1281+776del	ENSP00000459451.1:n.1281+768_1281+776del
ENST00000575558.5:n.1210+768_1210+776del
ENST00000575690.5:c.1281+768_1281+776del	ENSP00000460349.1:n.1281+768_1281+776del
ENST00000576101.1:n.1033+768_1033+776del
NM_001010845.2:c.1281+768_1281+776del	NP_001010845.1:n.1281+768_1281+776del
NM_001308169.1:c.1044+768_1044+776del	NP_001295098.1:n.1044+768_1044+776del
NM_001308172.1:c.1281+768_1281+776del	NP_001295101.1:n.1281+768_1281+776del
NM_001308954.1:c.1281+768_1281+776del	NP_001295883.1:n.1281+768_1281+776del
XR_243259.2:n.2281+768_2281+776del
XM_017022923.1:c.1281+768_1281+776del	XP_016878412.1:n.1281+768_1281+776del
XM_017022924.2:c.*371_*379del	XP_016878413.1:n.*371_*379del
XM_017022925.1:c.1044+768_1044+776del	XP_016878414.1:n.1044+768_1044+776del
XM_017022926.2:c.594+768_594+776del	XP_016878415.1:n.594+768_594+776del
XR_001751834.2:n.2490+768_2490+776del
NM_001308172.2:c.1281+768_1281+776del MANE Select	NP_001295101.1:n.1281+768_1281+776del
NM_001308169.2:c.1044+768_1044+776del	NP_001295098.1:n.1044+768_1044+776del
NM_001308954.2:c.1281+768_1281+776del	NP_001295883.1:n.1281+768_1281+776del