Canonical Allele Identifier: CA1998720473

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108146268_108146269delinsCT , CM000673.2:g.108146268_108146269delinsCT	GRCh38
NC_000011.9:g.108016995_108016996delinsCT , CM000673.1:g.108016995_108016996delinsCT	GRCh37
NC_000011.8:g.107522205_107522206delinsCT	NCBI36
NG_009888.1:g.29738_29739delinsCT
NG_009888.2:g.34564_34565delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.1072_1073delinsCT MANE Select	ENSP00000265838.4:p.Leu358=
ENST00000671707.1:n.1167_1168delinsCT
ENST00000672031.1:c.*59_*60delinsCT	ENSP00000500463.1:n.*59_*60delinsCT
ENST00000672284.1:c.802_803delinsCT	ENSP00000500444.1:p.Leu268=
ENST00000672354.1:c.1072_1073delinsCT	ENSP00000500490.1:p.Leu358=
ENST00000672367.1:c.709_710delinsCT	ENSP00000500209.1:p.Leu237=
ENST00000672580.1:c.*327_*328delinsCT	ENSP00000500366.1:n.*327_*328delinsCT
ENST00000672907.1:c.757_758delinsCT	ENSP00000500928.1:p.Leu253=
ENST00000673000.1:n.1160_1161delinsCT
ENST00000673531.1:c.802_803delinsCT	ENSP00000500163.1:p.Leu268=
ENST00000265838.8:c.1072_1073delinsCT	ENSP00000265838.4:p.Leu358=
ENST00000533597.1:n.148_149delinsCT
NM_000019.3:c.1072_1073delinsCT	NP_000010.1:p.Leu358=
XM_006718834.2:c.802_803delinsCT	XP_006718897.1:p.Leu268=
XM_006718835.2:c.802_803delinsCT	XP_006718898.1:p.Leu268=
XM_006718835.3:c.802_803delinsCT	XP_006718898.1:p.Leu268=
XM_017017681.1:c.802_803delinsCT	XP_016873170.1:p.Leu268=
XM_017017682.2:c.694_695delinsCT	XP_016873171.1:p.Leu232=
XM_017017683.2:c.694_695delinsCT	XP_016873172.1:p.Leu232=
XM_024448511.1:c.802_803delinsCT	XP_024304279.1:p.Leu268=
XM_024448512.1:c.802_803delinsCT	XP_024304280.1:p.Leu268=
XM_024448513.1:c.802_803delinsCT	XP_024304281.1:p.Leu268=
XM_024448514.1:c.802_803delinsCT	XP_024304282.1:p.Leu268=
XM_024448515.1:c.802_803delinsCT	XP_024304283.1:p.Leu268=
NM_000019.4:c.1072_1073delinsCT MANE Select	NP_000010.1:p.Leu358=
NM_001386677.1:c.1072_1073delinsCT	NP_001373606.1:p.Leu358=
NM_001386678.1:c.757_758delinsCT	NP_001373607.1:p.Leu253=
NM_001386679.1:c.775_776delinsCT	NP_001373608.1:p.Leu259=
NM_001386681.1:c.802_803delinsCT	NP_001373610.1:p.Leu268=
NM_001386682.1:c.802_803delinsCT	NP_001373611.1:p.Leu268=
NM_001386685.1:c.802_803delinsCT	NP_001373614.1:p.Leu268=
NM_001386686.1:c.802_803delinsCT	NP_001373615.1:p.Leu268=
NM_001386687.1:c.802_803delinsCT	NP_001373616.1:p.Leu268=
NM_001386688.1:c.802_803delinsCT	NP_001373617.1:p.Leu268=
NM_001386689.1:c.802_803delinsCT	NP_001373618.1:p.Leu268=
NM_001386690.1:c.802_803delinsCT	NP_001373619.1:p.Leu268=
NM_001386691.1:c.802_803delinsCT	NP_001373620.1:p.Leu268=
NR_170162.1:n.1047_1048delinsCT
NR_170163.1:n.1105_1106delinsCT