Canonical Allele Identifier: CA6263357

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 524080
• ClinVar RCV Id: RCV000627576 ; RCV000844832
• dbSNP Id: rs781496140
• ExAC: 11:108016954 AAG / A
• gnomAD v2: 11-108016954-AAG-A
• gnomAD v3: 11-108146227-AAG-A
• gnomAD v4: 11-108146227-AAG-A
• MyVariant Identifiers: chr11:g.108016956_108016957del (hg19) ; chr11:g.108016955_108016956del (hg19) ; chr11:g.108146229_108146230del (hg38) ; chr11:g.108146228_108146229del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108146229_108146230del , CM000673.2:g.108146229_108146230del	GRCh38
NC_000011.9:g.108016956_108016957del , CM000673.1:g.108016956_108016957del	GRCh37
NC_000011.8:g.107522166_107522167del	NCBI36
NG_009888.1:g.29699_29700del
NG_009888.2:g.34525_34526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1033_1034del MANE Select	ENSP00000265838.4:p.Glu345ArgfsTer9
ENST00000671707.1:n.1128_1129del
ENST00000672031.1:c.*20_*21del	ENSP00000500463.1:n.*20_*21del
ENST00000672284.1:c.763_764del	ENSP00000500444.1:p.Glu255ArgfsTer9
ENST00000672354.1:c.1033_1034del	ENSP00000500490.1:p.Glu345ArgfsTer9
ENST00000672367.1:c.670_671del	ENSP00000500209.1:p.Glu224ArgfsTer9
ENST00000672580.1:c.*288_*289del	ENSP00000500366.1:n.*288_*289del
ENST00000672907.1:c.718_719del	ENSP00000500928.1:p.Glu240ArgfsTer9
ENST00000673000.1:n.1121_1122del
ENST00000673531.1:c.763_764del	ENSP00000500163.1:p.Glu255ArgfsTer9
ENST00000265838.8:c.1033_1034del	ENSP00000265838.4:p.Glu345ArgfsTer9
ENST00000533597.1:n.109_110del
NM_000019.3:c.1033_1034del	NP_000010.1:p.Glu345ArgfsTer9
XM_006718834.2:c.763_764del	XP_006718897.1:p.Glu255ArgfsTer9
XM_006718835.2:c.763_764del	XP_006718898.1:p.Glu255ArgfsTer9
XM_006718835.3:c.763_764del	XP_006718898.1:p.Glu255ArgfsTer9
XM_017017681.1:c.763_764del	XP_016873170.1:p.Glu255ArgfsTer9
XM_017017682.2:c.655_656del	XP_016873171.1:p.Glu219ArgfsTer9
XM_017017683.2:c.655_656del	XP_016873172.1:p.Glu219ArgfsTer9
XM_024448511.1:c.763_764del	XP_024304279.1:p.Glu255ArgfsTer9
XM_024448512.1:c.763_764del	XP_024304280.1:p.Glu255ArgfsTer9
XM_024448513.1:c.763_764del	XP_024304281.1:p.Glu255ArgfsTer9
XM_024448514.1:c.763_764del	XP_024304282.1:p.Glu255ArgfsTer9
XM_024448515.1:c.763_764del	XP_024304283.1:p.Glu255ArgfsTer9
NM_000019.4:c.1033_1034del MANE Select	NP_000010.1:p.Glu345ArgfsTer9
NM_001386677.1:c.1033_1034del	NP_001373606.1:p.Glu345ArgfsTer9
NM_001386678.1:c.718_719del	NP_001373607.1:p.Glu240ArgfsTer9
NM_001386679.1:c.736_737del	NP_001373608.1:p.Glu246ArgfsTer9
NM_001386681.1:c.763_764del	NP_001373610.1:p.Glu255ArgfsTer9
NM_001386682.1:c.763_764del	NP_001373611.1:p.Glu255ArgfsTer9
NM_001386685.1:c.763_764del	NP_001373614.1:p.Glu255ArgfsTer9
NM_001386686.1:c.763_764del	NP_001373615.1:p.Glu255ArgfsTer9
NM_001386687.1:c.763_764del	NP_001373616.1:p.Glu255ArgfsTer9
NM_001386688.1:c.763_764del	NP_001373617.1:p.Glu255ArgfsTer9
NM_001386689.1:c.763_764del	NP_001373618.1:p.Glu255ArgfsTer9
NM_001386690.1:c.763_764del	NP_001373619.1:p.Glu255ArgfsTer9
NM_001386691.1:c.763_764del	NP_001373620.1:p.Glu255ArgfsTer9
NR_170162.1:n.1008_1009del
NR_170163.1:n.1066_1067del