Canonical Allele Identifier: CA915947687

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 666475
• ClinVar RCV Id: RCV000844780
• dbSNP Id: rs1591363674

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108135161_108135162delinsG , CM000673.2:g.108135161_108135162delinsG	GRCh38
NC_000011.9:g.108005888_108005889delinsG , CM000673.1:g.108005888_108005889delinsG	GRCh37
NC_000011.8:g.107511098_107511099delinsG	NCBI36
NG_009888.1:g.18631_18632delinsG
NG_009888.2:g.23457_23458delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.354_355delinsG MANE Select	ENSP00000265838.4:p.Cys119ValfsTer4
ENST00000671707.1:n.449_450delinsG
ENST00000672008.1:c.314+865_314+866delinsG	ENSP00000500499.1:n.314+865_314+866delinsG
ENST00000672031.1:c.354_355delinsG	ENSP00000500463.1:p.Cys119ValfsTer4
ENST00000672284.1:c.84_85delinsG	ENSP00000500444.1:p.Cys29ValfsTer4
ENST00000672354.1:c.354_355delinsG	ENSP00000500490.1:p.Cys119ValfsTer4
ENST00000672367.1:c.73-3737_73-3736delinsG	ENSP00000500209.1:n.73-3737_73-3736delinsG
ENST00000672580.1:c.354_355delinsG	ENSP00000500366.1:p.Cys119ValfsTer4
ENST00000672907.1:c.120+3207_120+3208delinsG	ENSP00000500928.1:n.120+3207_120+3208delinsG
ENST00000673000.1:n.442_443delinsG
ENST00000673531.1:c.84_85delinsG	ENSP00000500163.1:p.Cys29ValfsTer4
ENST00000265838.8:c.354_355delinsG	ENSP00000265838.4:p.Cys119ValfsTer4
ENST00000299355.10:c.354_355delinsG	ENSP00000299355.6:p.Cys119ValfsTer4
ENST00000527942.5:c.84_85delinsG	ENSP00000433568.1:p.Cys29ValfsTer4
ENST00000528370.1:c.160_161delinsG
ENST00000531813.5:c.334+845_334+846delinsG	ENSP00000435965.1:n.334+845_334+846delinsG
NM_000019.3:c.354_355delinsG	NP_000010.1:p.Cys119ValfsTer4
XM_006718834.2:c.84_85delinsG	XP_006718897.1:p.Cys29ValfsTer4
XM_006718835.2:c.84_85delinsG	XP_006718898.1:p.Cys29ValfsTer4
XM_006718835.3:c.84_85delinsG	XP_006718898.1:p.Cys29ValfsTer4
XM_017017681.1:c.84_85delinsG	XP_016873170.1:p.Cys29ValfsTer4
XM_017017682.2:c.57+845_57+846delinsG	XP_016873171.1:n.57+845_57+846delinsG
XM_017017683.2:c.57+845_57+846delinsG	XP_016873172.1:n.57+845_57+846delinsG
XM_024448511.1:c.84_85delinsG	XP_024304279.1:p.Cys29ValfsTer4
XM_024448512.1:c.84_85delinsG	XP_024304280.1:p.Cys29ValfsTer4
XM_024448513.1:c.84_85delinsG	XP_024304281.1:p.Cys29ValfsTer4
XM_024448514.1:c.84_85delinsG	XP_024304282.1:p.Cys29ValfsTer4
XM_024448515.1:c.84_85delinsG	XP_024304283.1:p.Cys29ValfsTer4
NM_000019.4:c.354_355delinsG MANE Select	NP_000010.1:p.Cys119ValfsTer4
NM_001386677.1:c.354_355delinsG	NP_001373606.1:p.Cys119ValfsTer4
NM_001386678.1:c.120+3207_120+3208delinsG	NP_001373607.1:n.120+3207_120+3208delinsG
NM_001386679.1:c.57_58delinsG	NP_001373608.1:p.Cys20ValfsTer4
NM_001386681.1:c.84_85delinsG	NP_001373610.1:p.Cys29ValfsTer4
NM_001386682.1:c.84_85delinsG	NP_001373611.1:p.Cys29ValfsTer4
NM_001386685.1:c.84_85delinsG	NP_001373614.1:p.Cys29ValfsTer4
NM_001386686.1:c.84_85delinsG	NP_001373615.1:p.Cys29ValfsTer4
NM_001386687.1:c.84_85delinsG	NP_001373616.1:p.Cys29ValfsTer4
NM_001386688.1:c.84_85delinsG	NP_001373617.1:p.Cys29ValfsTer4
NM_001386689.1:c.84_85delinsG	NP_001373618.1:p.Cys29ValfsTer4
NM_001386690.1:c.84_85delinsG	NP_001373619.1:p.Cys29ValfsTer4
NM_001386691.1:c.84_85delinsG	NP_001373620.1:p.Cys29ValfsTer4
NR_170162.1:n.394_395delinsG
NR_170163.1:n.468+845_468+846delinsG