Canonical Allele Identifier: CA1998720993

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147304_108147312delinsCATGCCTTG , CM000673.2:g.108147304_108147312delinsCATGCCTTG	GRCh38
NC_000011.9:g.108018031_108018039delinsCATGCCTTG , CM000673.1:g.108018031_108018039delinsCATGCCTTG	GRCh37
NC_000011.8:g.107523241_107523249delinsCATGCCTTG	NCBI36
NG_009888.1:g.30774_30782delinsCATGCCTTG
NG_009888.2:g.35600_35608delinsCATGCCTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.1198_1206delinsCATGCCTTG MANE Select	ENSP00000265838.4:p.His400=
ENST00000671707.1:n.1293_1301delinsCATGCCTTG
ENST00000672031.1:c.*185_*193delinsCATGCCTTG	ENSP00000500463.1:n.*185_*193delinsCATGCC...
ENST00000672284.1:c.928_936delinsCATGCCTTG	ENSP00000500444.1:p.His310=
ENST00000672354.1:c.1219_1227delinsCATGCCTTG	ENSP00000500490.1:p.His407=
ENST00000672367.1:c.835_843delinsCATGCCTTG	ENSP00000500209.1:p.His279=
ENST00000672580.1:c.*453_*461delinsCATGCCTTG	ENSP00000500366.1:n.*453_*461delinsCATGCC...
ENST00000672907.1:c.883_891delinsCATGCCTTG	ENSP00000500928.1:p.His295=
ENST00000673000.1:n.1286_1294delinsCATGCCTTG
ENST00000673531.1:c.928_936delinsCATGCCTTG	ENSP00000500163.1:p.His310=
ENST00000265838.8:c.1198_1206delinsCATGCCTTG	ENSP00000265838.4:p.His400=
ENST00000533597.1:n.274_282delinsCATGCCTTG
NM_000019.3:c.1198_1206delinsCATGCCTTG	NP_000010.1:p.His400=
XM_006718834.2:c.928_936delinsCATGCCTTG	XP_006718897.1:p.His310=
XM_006718835.2:c.928_936delinsCATGCCTTG	XP_006718898.1:p.His310=
XM_006718835.3:c.928_936delinsCATGCCTTG	XP_006718898.1:p.His310=
XM_017017681.1:c.928_936delinsCATGCCTTG	XP_016873170.1:p.His310=
XM_017017682.2:c.820_828delinsCATGCCTTG	XP_016873171.1:p.His274=
XM_017017683.2:c.820_828delinsCATGCCTTG	XP_016873172.1:p.His274=
XM_024448511.1:c.928_936delinsCATGCCTTG	XP_024304279.1:p.His310=
XM_024448512.1:c.928_936delinsCATGCCTTG	XP_024304280.1:p.His310=
XM_024448513.1:c.928_936delinsCATGCCTTG	XP_024304281.1:p.His310=
XM_024448514.1:c.928_936delinsCATGCCTTG	XP_024304282.1:p.His310=
XM_024448515.1:c.928_936delinsCATGCCTTG	XP_024304283.1:p.His310=
NM_000019.4:c.1198_1206delinsCATGCCTTG MANE Select	NP_000010.1:p.His400=
NM_001386677.1:c.1219_1227delinsCATGCCTTG	NP_001373606.1:p.His407=
NM_001386678.1:c.883_891delinsCATGCCTTG	NP_001373607.1:p.His295=
NM_001386679.1:c.901_909delinsCATGCCTTG	NP_001373608.1:p.His301=
NM_001386681.1:c.928_936delinsCATGCCTTG	NP_001373610.1:p.His310=
NM_001386682.1:c.928_936delinsCATGCCTTG	NP_001373611.1:p.His310=
NM_001386685.1:c.928_936delinsCATGCCTTG	NP_001373614.1:p.His310=
NM_001386686.1:c.928_936delinsCATGCCTTG	NP_001373615.1:p.His310=
NM_001386687.1:c.928_936delinsCATGCCTTG	NP_001373616.1:p.His310=
NM_001386688.1:c.928_936delinsCATGCCTTG	NP_001373617.1:p.His310=
NM_001386689.1:c.928_936delinsCATGCCTTG	NP_001373618.1:p.His310=
NM_001386690.1:c.928_936delinsCATGCCTTG	NP_001373619.1:p.His310=
NM_001386691.1:c.928_936delinsCATGCCTTG	NP_001373620.1:p.His310=
NR_170162.1:n.1173_1181delinsCATGCCTTG
NR_170163.1:n.1231_1239delinsCATGCCTTG