Canonical Allele Identifier: CA2615812628

Gene: ACAT1

Linked Data

• gnomAD v4: 11-108134312-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108134313_108134314del , CM000673.2:g.108134313_108134314del	GRCh38
NC_000011.9:g.108005040_108005041del , CM000673.1:g.108005040_108005041del	GRCh37
NC_000011.8:g.107510250_107510251del	NCBI36
NG_009888.1:g.17783_17784del
NG_009888.2:g.22609_22610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.331_332del MANE Select	ENSP00000265838.4:p.Ala111ArgfsTer?
ENST00000671707.1:n.426_427del
ENST00000672008.1:c.314+17_314+18del	ENSP00000500499.1:n.314+17_314+18del
ENST00000672031.1:c.331_332del	ENSP00000500463.1:p.Ala111ArgfsTer?
ENST00000672284.1:c.61_62del	ENSP00000500444.1:p.Ala21ArgfsTer?
ENST00000672354.1:c.331_332del	ENSP00000500490.1:p.Ala111ArgfsTer?
ENST00000672367.1:c.73-4585_73-4584del	ENSP00000500209.1:n.73-4585_73-4584del
ENST00000672580.1:c.331_332del	ENSP00000500366.1:p.Ala111ArgfsTer?
ENST00000672907.1:c.120+2359_120+2360del	ENSP00000500928.1:n.120+2359_120+2360del
ENST00000673000.1:n.419_420del
ENST00000673531.1:c.61_62del	ENSP00000500163.1:p.Ala21ArgfsTer?
ENST00000265838.8:c.331_332del	ENSP00000265838.4:p.Ala111ArgfsTer?
ENST00000299355.10:c.331_332del	ENSP00000299355.6:p.Ala111ArgfsTer?
ENST00000524833.5:n.371_372del
ENST00000527942.5:c.61_62del	ENSP00000433568.1:p.Ala21ArgfsTer?
ENST00000528370.1:c.137_138del
ENST00000531813.5:c.331_332del	ENSP00000435965.1:p.Ala111ArgfsTer3
NM_000019.3:c.331_332del	NP_000010.1:p.Ala111ArgfsTer?
XM_006718834.2:c.61_62del	XP_006718897.1:p.Ala21ArgfsTer?
XM_006718835.2:c.61_62del	XP_006718898.1:p.Ala21ArgfsTer?
XM_006718835.3:c.61_62del	XP_006718898.1:p.Ala21ArgfsTer?
XM_017017681.1:c.61_62del	XP_016873170.1:p.Ala21ArgfsTer?
XM_017017682.2:c.54_55del	XP_016873171.1:p.Gln19GlyfsTer?
XM_017017683.2:c.54_55del	XP_016873172.1:p.Gln19GlyfsTer?
XM_024448511.1:c.61_62del	XP_024304279.1:p.Ala21ArgfsTer?
XM_024448512.1:c.61_62del	XP_024304280.1:p.Ala21ArgfsTer?
XM_024448513.1:c.61_62del	XP_024304281.1:p.Ala21ArgfsTer?
XM_024448514.1:c.61_62del	XP_024304282.1:p.Ala21ArgfsTer?
XM_024448515.1:c.61_62del	XP_024304283.1:p.Ala21ArgfsTer?
NM_000019.4:c.331_332del MANE Select	NP_000010.1:p.Ala111ArgfsTer?
NM_001386677.1:c.331_332del	NP_001373606.1:p.Ala111ArgfsTer?
NM_001386678.1:c.120+2359_120+2360del	NP_001373607.1:n.120+2359_120+2360del
NM_001386679.1:c.37+17_37+18del	NP_001373608.1:n.37+17_37+18del
NM_001386681.1:c.61_62del	NP_001373610.1:p.Ala21ArgfsTer?
NM_001386682.1:c.61_62del	NP_001373611.1:p.Ala21ArgfsTer?
NM_001386685.1:c.61_62del	NP_001373614.1:p.Ala21ArgfsTer?
NM_001386686.1:c.61_62del	NP_001373615.1:p.Ala21ArgfsTer?
NM_001386687.1:c.61_62del	NP_001373616.1:p.Ala21ArgfsTer?
NM_001386688.1:c.61_62del	NP_001373617.1:p.Ala21ArgfsTer?
NM_001386689.1:c.61_62del	NP_001373618.1:p.Ala21ArgfsTer?
NM_001386690.1:c.61_62del	NP_001373619.1:p.Ala21ArgfsTer?
NM_001386691.1:c.61_62del	NP_001373620.1:p.Ala21ArgfsTer?
NR_170162.1:n.371_372del
NR_170163.1:n.465_466del