Canonical Allele Identifier: CA1998717011

Gene: ACAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108138905_108138907delinsTGG , CM000673.2:g.108138905_108138907delinsTGG	GRCh38
NC_000011.9:g.108009632_108009634delinsTGG , CM000673.1:g.108009632_108009634delinsTGG	GRCh37
NC_000011.8:g.107514842_107514844delinsTGG	NCBI36
NG_009888.1:g.22375_22377delinsTGG
NG_009888.2:g.27201_27203delinsTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.443_445delinsTGG MANE Select	ENSP00000265838.4:p.Met148=
ENST00000671707.1:n.538_540delinsTGG
ENST00000672008.1:c.*1_*3delinsTGG	ENSP00000500499.1:n.*1_*3delinsTGG
ENST00000672031.1:c.443_445delinsTGG	ENSP00000500463.1:p.Met148=
ENST00000672284.1:c.173_175delinsTGG	ENSP00000500444.1:p.Met58=
ENST00000672354.1:c.443_445delinsTGG	ENSP00000500490.1:p.Met148=
ENST00000672367.1:c.80_82delinsTGG	ENSP00000500209.1:p.Met27=
ENST00000672580.1:c.443_445delinsTGG	ENSP00000500366.1:p.Met148=
ENST00000672907.1:c.128_130delinsTGG	ENSP00000500928.1:p.Met43=
ENST00000673000.1:n.531_533delinsTGG
ENST00000673531.1:c.173_175delinsTGG	ENSP00000500163.1:p.Met58=
ENST00000265838.8:c.443_445delinsTGG	ENSP00000265838.4:p.Met148=
ENST00000528370.1:c.249_251delinsTGG
ENST00000531813.5:c.342_344delinsTGG	ENSP00000435965.1:p.Asp114=
ENST00000534773.1:n.186_188delinsTGG
NM_000019.3:c.443_445delinsTGG	NP_000010.1:p.Met148=
XM_006718834.2:c.173_175delinsTGG	XP_006718897.1:p.Met58=
XM_006718835.2:c.173_175delinsTGG	XP_006718898.1:p.Met58=
XM_006718835.3:c.173_175delinsTGG	XP_006718898.1:p.Met58=
XM_017017681.1:c.173_175delinsTGG	XP_016873170.1:p.Met58=
XM_017017682.2:c.65_67delinsTGG	XP_016873171.1:p.Met22=
XM_017017683.2:c.65_67delinsTGG	XP_016873172.1:p.Met22=
XM_024448511.1:c.173_175delinsTGG	XP_024304279.1:p.Met58=
XM_024448512.1:c.173_175delinsTGG	XP_024304280.1:p.Met58=
XM_024448513.1:c.173_175delinsTGG	XP_024304281.1:p.Met58=
XM_024448514.1:c.173_175delinsTGG	XP_024304282.1:p.Met58=
XM_024448515.1:c.173_175delinsTGG	XP_024304283.1:p.Met58=
NM_000019.4:c.443_445delinsTGG MANE Select	NP_000010.1:p.Met148=
NM_001386677.1:c.443_445delinsTGG	NP_001373606.1:p.Met148=
NM_001386678.1:c.128_130delinsTGG	NP_001373607.1:p.Met43=
NM_001386679.1:c.146_148delinsTGG	NP_001373608.1:p.Met49=
NM_001386681.1:c.173_175delinsTGG	NP_001373610.1:p.Met58=
NM_001386682.1:c.173_175delinsTGG	NP_001373611.1:p.Met58=
NM_001386685.1:c.173_175delinsTGG	NP_001373614.1:p.Met58=
NM_001386686.1:c.173_175delinsTGG	NP_001373615.1:p.Met58=
NM_001386687.1:c.173_175delinsTGG	NP_001373616.1:p.Met58=
NM_001386688.1:c.173_175delinsTGG	NP_001373617.1:p.Met58=
NM_001386689.1:c.173_175delinsTGG	NP_001373618.1:p.Met58=
NM_001386690.1:c.173_175delinsTGG	NP_001373619.1:p.Met58=
NM_001386691.1:c.173_175delinsTGG	NP_001373620.1:p.Met58=
NR_170162.1:n.483_485delinsTGG
NR_170163.1:n.476_478delinsTGG