Canonical Allele Identifier: CA2574969981

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147357_108147359dup , CM000673.2:g.108147357_108147359dup	GRCh38
NC_000011.9:g.108018084_108018086dup , CM000673.1:g.108018084_108018086dup	GRCh37
NC_000011.8:g.107523294_107523296dup	NCBI36
NG_009888.1:g.30827_30829dup
NG_009888.2:g.35653_35655dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1251_1253dup MANE Select	ENSP00000265838.4:p.Gly418_Ala419insGly
ENST00000671707.1:n.1346_1348dup
ENST00000672031.1:c.*238_*240dup	ENSP00000500463.1:n.*238_*240dup
ENST00000672284.1:c.981_983dup	ENSP00000500444.1:p.Gly328_Ala329insGly
ENST00000672354.1:c.1272_1274dup	ENSP00000500490.1:p.Gly425_Ala426insGly
ENST00000672367.1:c.888_890dup	ENSP00000500209.1:p.Gly297_Ala298insGly
ENST00000672580.1:c.*506_*508dup	ENSP00000500366.1:n.*506_*508dup
ENST00000672907.1:c.936_938dup	ENSP00000500928.1:p.Gly313_Ala314insGly
ENST00000673000.1:n.1339_1341dup
ENST00000673531.1:c.981_983dup	ENSP00000500163.1:p.Gly328_Ala329insGly
ENST00000265838.8:c.1251_1253dup	ENSP00000265838.4:p.Gly418_Ala419insGly
ENST00000533597.1:n.327_329dup
NM_000019.3:c.1251_1253dup	NP_000010.1:p.Gly418_Ala419insGly
XM_006718834.2:c.981_983dup	XP_006718897.1:p.Gly328_Ala329insGly
XM_006718835.2:c.981_983dup	XP_006718898.1:p.Gly328_Ala329insGly
XM_006718835.3:c.981_983dup	XP_006718898.1:p.Gly328_Ala329insGly
XM_017017681.1:c.981_983dup	XP_016873170.1:p.Gly328_Ala329insGly
XM_017017682.2:c.873_875dup	XP_016873171.1:p.Gly292_Ala293insGly
XM_017017683.2:c.873_875dup	XP_016873172.1:p.Gly292_Ala293insGly
XM_024448511.1:c.981_983dup	XP_024304279.1:p.Gly328_Ala329insGly
XM_024448512.1:c.981_983dup	XP_024304280.1:p.Gly328_Ala329insGly
XM_024448513.1:c.981_983dup	XP_024304281.1:p.Gly328_Ala329insGly
XM_024448514.1:c.981_983dup	XP_024304282.1:p.Gly328_Ala329insGly
XM_024448515.1:c.981_983dup	XP_024304283.1:p.Gly328_Ala329insGly
NM_000019.4:c.1251_1253dup MANE Select	NP_000010.1:p.Gly418_Ala419insGly
NM_001386677.1:c.1272_1274dup	NP_001373606.1:p.Gly425_Ala426insGly
NM_001386678.1:c.936_938dup	NP_001373607.1:p.Gly313_Ala314insGly
NM_001386679.1:c.954_956dup	NP_001373608.1:p.Gly319_Ala320insGly
NM_001386681.1:c.981_983dup	NP_001373610.1:p.Gly328_Ala329insGly
NM_001386682.1:c.981_983dup	NP_001373611.1:p.Gly328_Ala329insGly
NM_001386685.1:c.981_983dup	NP_001373614.1:p.Gly328_Ala329insGly
NM_001386686.1:c.981_983dup	NP_001373615.1:p.Gly328_Ala329insGly
NM_001386687.1:c.981_983dup	NP_001373616.1:p.Gly328_Ala329insGly
NM_001386688.1:c.981_983dup	NP_001373617.1:p.Gly328_Ala329insGly
NM_001386689.1:c.981_983dup	NP_001373618.1:p.Gly328_Ala329insGly
NM_001386690.1:c.981_983dup	NP_001373619.1:p.Gly328_Ala329insGly
NM_001386691.1:c.981_983dup	NP_001373620.1:p.Gly328_Ala329insGly
NR_170162.1:n.1226_1228dup
NR_170163.1:n.1284_1286dup