Canonical Allele Identifier: CA919672307

Gene: ACSM2A

Linked Data

• dbSNP Id: rs1596674099
• gnomAD v3: 16-20479316-TACCATTTATTGAATGCATATCATG-T
• gnomAD v4: 16-20479316-TACCATTTATTGAATGCATATCATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479318_20479341del , CM000678.2:g.20479318_20479341del	GRCh38
NC_000016.9:g.20490640_20490663del , CM000678.1:g.20490640_20490663del	GRCh37
NC_000016.8:g.20398141_20398164del	NCBI36
NG_054721.1:g.32858_32881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+641_1281+664del MANE Select	ENSP00000459451.1:n.1281+641_1281+664del
ENST00000219054.10:c.1281+641_1281+664del	ENSP00000219054.6:n.1281+641_1281+664del
ENST00000396104.2:c.1281+641_1281+664del	ENSP00000379411.2:n.1281+641_1281+664del
ENST00000417235.6:c.1044+641_1044+664del	ENSP00000392169.2:n.1044+641_1044+664del
ENST00000570698.5:n.1456+641_1456+664del
ENST00000572843.5:n.1476+641_1476+664del
ENST00000573854.5:c.1281+641_1281+664del	ENSP00000459451.1:n.1281+641_1281+664del
ENST00000575558.5:n.1210+641_1210+664del
ENST00000575690.5:c.1281+641_1281+664del	ENSP00000460349.1:n.1281+641_1281+664del
ENST00000576101.1:n.1033+641_1033+664del
NM_001010845.2:c.1281+641_1281+664del	NP_001010845.1:n.1281+641_1281+664del
NM_001308169.1:c.1044+641_1044+664del	NP_001295098.1:n.1044+641_1044+664del
NM_001308172.1:c.1281+641_1281+664del	NP_001295101.1:n.1281+641_1281+664del
NM_001308954.1:c.1281+641_1281+664del	NP_001295883.1:n.1281+641_1281+664del
XR_243259.2:n.2281+641_2281+664del
XM_017022923.1:c.1281+641_1281+664del	XP_016878412.1:n.1281+641_1281+664del
XM_017022924.2:c.*244_*267del	XP_016878413.1:n.*244_*267del
XM_017022925.1:c.1044+641_1044+664del	XP_016878414.1:n.1044+641_1044+664del
XM_017022926.2:c.594+641_594+664del	XP_016878415.1:n.594+641_594+664del
XR_001751834.2:n.2490+641_2490+664del
NM_001308172.2:c.1281+641_1281+664del MANE Select	NP_001295101.1:n.1281+641_1281+664del
NM_001308169.2:c.1044+641_1044+664del	NP_001295098.1:n.1044+641_1044+664del
NM_001308954.2:c.1281+641_1281+664del	NP_001295883.1:n.1281+641_1281+664del