Canonical Allele Identifier: CA1998717012

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108138907_108138908delinsGT , CM000673.2:g.108138907_108138908delinsGT	GRCh38
NC_000011.9:g.108009634_108009635delinsGT , CM000673.1:g.108009634_108009635delinsGT	GRCh37
NC_000011.8:g.107514844_107514845delinsGT	NCBI36
NG_009888.1:g.22377_22378delinsGT
NG_009888.2:g.27203_27204delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.445_446delinsGT MANE Select	ENSP00000265838.4:p.Val149=
ENST00000671707.1:n.540_541delinsGT
ENST00000672008.1:c.*3_*4delinsGT	ENSP00000500499.1:n.*3_*4delinsGT
ENST00000672031.1:c.445_446delinsGT	ENSP00000500463.1:p.Val149=
ENST00000672284.1:c.175_176delinsGT	ENSP00000500444.1:p.Val59=
ENST00000672354.1:c.445_446delinsGT	ENSP00000500490.1:p.Val149=
ENST00000672367.1:c.82_83delinsGT	ENSP00000500209.1:p.Val28=
ENST00000672580.1:c.445_446delinsGT	ENSP00000500366.1:p.Val149=
ENST00000672907.1:c.130_131delinsGT	ENSP00000500928.1:p.Val44=
ENST00000673000.1:n.533_534delinsGT
ENST00000673531.1:c.175_176delinsGT	ENSP00000500163.1:p.Val59=
ENST00000265838.8:c.445_446delinsGT	ENSP00000265838.4:p.Val149=
ENST00000528370.1:c.251_252delinsGT
ENST00000531813.5:c.344_345delinsGT	ENSP00000435965.1:p.Gly115=
ENST00000534773.1:n.188_189delinsGT
NM_000019.3:c.445_446delinsGT	NP_000010.1:p.Val149=
XM_006718834.2:c.175_176delinsGT	XP_006718897.1:p.Val59=
XM_006718835.2:c.175_176delinsGT	XP_006718898.1:p.Val59=
XM_006718835.3:c.175_176delinsGT	XP_006718898.1:p.Val59=
XM_017017681.1:c.175_176delinsGT	XP_016873170.1:p.Val59=
XM_017017682.2:c.67_68delinsGT	XP_016873171.1:p.Val23=
XM_017017683.2:c.67_68delinsGT	XP_016873172.1:p.Val23=
XM_024448511.1:c.175_176delinsGT	XP_024304279.1:p.Val59=
XM_024448512.1:c.175_176delinsGT	XP_024304280.1:p.Val59=
XM_024448513.1:c.175_176delinsGT	XP_024304281.1:p.Val59=
XM_024448514.1:c.175_176delinsGT	XP_024304282.1:p.Val59=
XM_024448515.1:c.175_176delinsGT	XP_024304283.1:p.Val59=
NM_000019.4:c.445_446delinsGT MANE Select	NP_000010.1:p.Val149=
NM_001386677.1:c.445_446delinsGT	NP_001373606.1:p.Val149=
NM_001386678.1:c.130_131delinsGT	NP_001373607.1:p.Val44=
NM_001386679.1:c.148_149delinsGT	NP_001373608.1:p.Val50=
NM_001386681.1:c.175_176delinsGT	NP_001373610.1:p.Val59=
NM_001386682.1:c.175_176delinsGT	NP_001373611.1:p.Val59=
NM_001386685.1:c.175_176delinsGT	NP_001373614.1:p.Val59=
NM_001386686.1:c.175_176delinsGT	NP_001373615.1:p.Val59=
NM_001386687.1:c.175_176delinsGT	NP_001373616.1:p.Val59=
NM_001386688.1:c.175_176delinsGT	NP_001373617.1:p.Val59=
NM_001386689.1:c.175_176delinsGT	NP_001373618.1:p.Val59=
NM_001386690.1:c.175_176delinsGT	NP_001373619.1:p.Val59=
NM_001386691.1:c.175_176delinsGT	NP_001373620.1:p.Val59=
NR_170162.1:n.485_486delinsGT
NR_170163.1:n.478_479delinsGT