Canonical Allele Identifier: CA621268543

Gene: ACSM2A

Linked Data

• dbSNP Id: rs1335405276
• gnomAD v2: 16-20490825-CCTAT-C
• gnomAD v3: 16-20479503-CCTAT-C
• gnomAD v4: 16-20479503-CCTAT-C
• MyVariant Identifiers: chr16:g.20490826_20490829del (hg19) ; chr16:g.20479504_20479507del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479506_20479509del , CM000678.2:g.20479506_20479509del	GRCh38
NC_000016.9:g.20490828_20490831del , CM000678.1:g.20490828_20490831del	GRCh37
NC_000016.8:g.20398329_20398332del	NCBI36
NG_054721.1:g.33046_33049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+829_1281+832del MANE Select	ENSP00000459451.1:n.1281+829_1281+832del
ENST00000219054.10:c.1281+829_1281+832del	ENSP00000219054.6:n.1281+829_1281+832del
ENST00000396104.2:c.1281+829_1281+832del	ENSP00000379411.2:n.1281+829_1281+832del
ENST00000417235.6:c.1044+829_1044+832del	ENSP00000392169.2:n.1044+829_1044+832del
ENST00000570698.5:n.1456+829_1456+832del
ENST00000572843.5:n.1476+829_1476+832del
ENST00000573854.5:c.1281+829_1281+832del	ENSP00000459451.1:n.1281+829_1281+832del
ENST00000575558.5:n.1210+829_1210+832del
ENST00000575690.5:c.1281+829_1281+832del	ENSP00000460349.1:n.1281+829_1281+832del
ENST00000576101.1:n.1033+829_1033+832del
NM_001010845.2:c.1281+829_1281+832del	NP_001010845.1:n.1281+829_1281+832del
NM_001308169.1:c.1044+829_1044+832del	NP_001295098.1:n.1044+829_1044+832del
NM_001308172.1:c.1281+829_1281+832del	NP_001295101.1:n.1281+829_1281+832del
NM_001308954.1:c.1281+829_1281+832del	NP_001295883.1:n.1281+829_1281+832del
XR_243259.2:n.2281+829_2281+832del
XM_017022923.1:c.1281+829_1281+832del	XP_016878412.1:n.1281+829_1281+832del
XM_017022924.2:c.*432_*435del	XP_016878413.1:n.*432_*435del
XM_017022925.1:c.1044+829_1044+832del	XP_016878414.1:n.1044+829_1044+832del
XM_017022926.2:c.594+829_594+832del	XP_016878415.1:n.594+829_594+832del
XR_001751834.2:n.2490+829_2490+832del
NM_001308172.2:c.1281+829_1281+832del MANE Select	NP_001295101.1:n.1281+829_1281+832del
NM_001308169.2:c.1044+829_1044+832del	NP_001295098.1:n.1044+829_1044+832del
NM_001308954.2:c.1281+829_1281+832del	NP_001295883.1:n.1281+829_1281+832del