Canonical Allele Identifier: CA1998720469

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108146263_108146268delinsTTAGTC , CM000673.2:g.108146263_108146268delinsTTAGTC	GRCh38
NC_000011.9:g.108016990_108016995delinsTTAGTC , CM000673.1:g.108016990_108016995delinsTTAGTC	GRCh37
NC_000011.8:g.107522200_107522205delinsTTAGTC	NCBI36
NG_009888.1:g.29733_29738delinsTTAGTC
NG_009888.2:g.34559_34564delinsTTAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1067_1072delinsTTAGTC MANE Select	ENSP00000265838.4:p.Phe356=
ENST00000671707.1:n.1162_1167delinsTTAGTC
ENST00000672031.1:c.*54_*59delinsTTAGTC	ENSP00000500463.1:n.*54_*59delinsTTAGTC
ENST00000672284.1:c.797_802delinsTTAGTC	ENSP00000500444.1:p.Phe266=
ENST00000672354.1:c.1067_1072delinsTTAGTC	ENSP00000500490.1:p.Phe356=
ENST00000672367.1:c.704_709delinsTTAGTC	ENSP00000500209.1:p.Phe235=
ENST00000672580.1:c.*322_*327delinsTTAGTC	ENSP00000500366.1:n.*322_*327delinsTTAGTC
ENST00000672907.1:c.752_757delinsTTAGTC	ENSP00000500928.1:p.Phe251=
ENST00000673000.1:n.1155_1160delinsTTAGTC
ENST00000673531.1:c.797_802delinsTTAGTC	ENSP00000500163.1:p.Phe266=
ENST00000265838.8:c.1067_1072delinsTTAGTC	ENSP00000265838.4:p.Phe356=
ENST00000533597.1:n.143_148delinsTTAGTC
NM_000019.3:c.1067_1072delinsTTAGTC	NP_000010.1:p.Phe356=
XM_006718834.2:c.797_802delinsTTAGTC	XP_006718897.1:p.Phe266=
XM_006718835.2:c.797_802delinsTTAGTC	XP_006718898.1:p.Phe266=
XM_006718835.3:c.797_802delinsTTAGTC	XP_006718898.1:p.Phe266=
XM_017017681.1:c.797_802delinsTTAGTC	XP_016873170.1:p.Phe266=
XM_017017682.2:c.689_694delinsTTAGTC	XP_016873171.1:p.Phe230=
XM_017017683.2:c.689_694delinsTTAGTC	XP_016873172.1:p.Phe230=
XM_024448511.1:c.797_802delinsTTAGTC	XP_024304279.1:p.Phe266=
XM_024448512.1:c.797_802delinsTTAGTC	XP_024304280.1:p.Phe266=
XM_024448513.1:c.797_802delinsTTAGTC	XP_024304281.1:p.Phe266=
XM_024448514.1:c.797_802delinsTTAGTC	XP_024304282.1:p.Phe266=
XM_024448515.1:c.797_802delinsTTAGTC	XP_024304283.1:p.Phe266=
NM_000019.4:c.1067_1072delinsTTAGTC MANE Select	NP_000010.1:p.Phe356=
NM_001386677.1:c.1067_1072delinsTTAGTC	NP_001373606.1:p.Phe356=
NM_001386678.1:c.752_757delinsTTAGTC	NP_001373607.1:p.Phe251=
NM_001386679.1:c.770_775delinsTTAGTC	NP_001373608.1:p.Phe257=
NM_001386681.1:c.797_802delinsTTAGTC	NP_001373610.1:p.Phe266=
NM_001386682.1:c.797_802delinsTTAGTC	NP_001373611.1:p.Phe266=
NM_001386685.1:c.797_802delinsTTAGTC	NP_001373614.1:p.Phe266=
NM_001386686.1:c.797_802delinsTTAGTC	NP_001373615.1:p.Phe266=
NM_001386687.1:c.797_802delinsTTAGTC	NP_001373616.1:p.Phe266=
NM_001386688.1:c.797_802delinsTTAGTC	NP_001373617.1:p.Phe266=
NM_001386689.1:c.797_802delinsTTAGTC	NP_001373618.1:p.Phe266=
NM_001386690.1:c.797_802delinsTTAGTC	NP_001373619.1:p.Phe266=
NM_001386691.1:c.797_802delinsTTAGTC	NP_001373620.1:p.Phe266=
NR_170162.1:n.1042_1047delinsTTAGTC
NR_170163.1:n.1100_1105delinsTTAGTC