Canonical Allele Identifier: CA915948963
Gene: ACAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 666536
ClinVar RCV Id: RCV000844845

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108132328_108141537delinsTAA , CM000673.2:g.108132328_108141537delinsTAA GRCh38
NC_000011.9:g.108003055_108012264delinsTAA , CM000673.1:g.108003055_108012264delinsTAA GRCh37
NC_000011.8:g.107508265_107517474delinsTAA NCBI36
NG_009888.1:g.15798_25007delinsTAA
NG_009888.2:g.20624_29833delinsTAA

Transcript Alleles

HGVS Amino-acid change
ENST00000265838.9:c.120+374_731-68delinsTAA
ENST00000671707.1:n.215+374_826-68delinsTAA
ENST00000672008.1:c.120+374_*289-68delinsTAA
ENST00000672031.1:c.120+374_731-68delinsTAA
ENST00000672284.1:c.-151+374_461-68delinsTAA
ENST00000672354.1:c.120+374_731-68delinsTAA
ENST00000672367.1:c.73-6570_368-68delinsTAA
ENST00000672580.1:c.120+374_580-68delinsTAA
ENST00000672907.1:c.120+374_416-68delinsTAA
ENST00000673000.1:n.208+374_819-68delinsTAA
ENST00000673531.1:c.-151+374_461-68delinsTAA
ENST00000265838.8:c.120+374_731-68delinsTAA
ENST00000531813.5:c.120+374_*204-68delinsTAA
NM_000019.3:c.120+374_731-68delinsTAA
XM_006718834.2:c.-151+374_461-68delinsTAA
XM_006718835.2:c.-151+374_461-68delinsTAA
XM_006718835.3:c.-151+374_461-68delinsTAA
XM_017017681.1:c.-151+374_461-68delinsTAA
XM_017017682.2:c.-158+374_353-68delinsTAA
XM_017017683.2:c.-158+374_353-68delinsTAA
XM_024448511.1:c.-151+374_461-68delinsTAA
XM_024448512.1:c.-151+374_461-68delinsTAA
XM_024448513.1:c.-151+374_461-68delinsTAA
XM_024448514.1:c.-151+374_461-68delinsTAA
XM_024448515.1:c.-151+374_461-68delinsTAA
NM_000019.4:c.120+374_731-68delinsTAA
NM_001386677.1:c.120+374_731-68delinsTAA
NM_001386678.1:c.120+374_416-68delinsTAA
NM_001386679.1:c.-158+374_434-68delinsTAA
NM_001386681.1:c.-151+374_461-68delinsTAA
NM_001386682.1:c.-151+374_461-68delinsTAA
NM_001386685.1:c.-151+374_461-68delinsTAA
NM_001386686.1:c.-151+374_461-68delinsTAA
NM_001386687.1:c.-151+374_461-68delinsTAA
NM_001386688.1:c.-151+374_461-68delinsTAA
NM_001386689.1:c.-151+374_461-68delinsTAA
NM_001386690.1:c.-151+374_461-68delinsTAA
NM_001386691.1:c.-151+374_461-68delinsTAA
NR_170162.1:n.160+374_771-68delinsTAA
NR_170163.1:n.254+374_764-68delinsTAA