Canonical Allele Identifier: CA718951185

Gene: ACSM2A

Linked Data

• dbSNP Id: rs1245691836
• MyVariant Identifiers: chr16:g.20490592_20490596del (hg19) ; chr16:g.20479270_20479274del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479271_20479275del , CM000678.2:g.20479271_20479275del	GRCh38
NC_000016.9:g.20490593_20490597del , CM000678.1:g.20490593_20490597del	GRCh37
NC_000016.8:g.20398094_20398098del	NCBI36
NG_054721.1:g.32811_32815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+594_1281+598del MANE Select	ENSP00000459451.1:n.1281+594_1281+598del
ENST00000219054.10:c.1281+594_1281+598del	ENSP00000219054.6:n.1281+594_1281+598del
ENST00000396104.2:c.1281+594_1281+598del	ENSP00000379411.2:n.1281+594_1281+598del
ENST00000417235.6:c.1044+594_1044+598del	ENSP00000392169.2:n.1044+594_1044+598del
ENST00000570698.5:n.1456+594_1456+598del
ENST00000572843.5:n.1476+594_1476+598del
ENST00000573854.5:c.1281+594_1281+598del	ENSP00000459451.1:n.1281+594_1281+598del
ENST00000575558.5:n.1210+594_1210+598del
ENST00000575690.5:c.1281+594_1281+598del	ENSP00000460349.1:n.1281+594_1281+598del
ENST00000576101.1:n.1033+594_1033+598del
NM_001010845.2:c.1281+594_1281+598del	NP_001010845.1:n.1281+594_1281+598del
NM_001308169.1:c.1044+594_1044+598del	NP_001295098.1:n.1044+594_1044+598del
NM_001308172.1:c.1281+594_1281+598del	NP_001295101.1:n.1281+594_1281+598del
NM_001308954.1:c.1281+594_1281+598del	NP_001295883.1:n.1281+594_1281+598del
XR_243259.2:n.2281+594_2281+598del
XM_017022923.1:c.1281+594_1281+598del	XP_016878412.1:n.1281+594_1281+598del
XM_017022924.2:c.*197_*201del	XP_016878413.1:n.*197_*201del
XM_017022925.1:c.1044+594_1044+598del	XP_016878414.1:n.1044+594_1044+598del
XM_017022926.2:c.594+594_594+598del	XP_016878415.1:n.594+594_594+598del
XR_001751834.2:n.2490+594_2490+598del
NM_001308172.2:c.1281+594_1281+598del MANE Select	NP_001295101.1:n.1281+594_1281+598del
NM_001308169.2:c.1044+594_1044+598del	NP_001295098.1:n.1044+594_1044+598del
NM_001308954.2:c.1281+594_1281+598del	NP_001295883.1:n.1281+594_1281+598del