Canonical Allele Identifier: CA3047150857
Gene: ACAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108133939_108134221del , CM000673.2:g.108133939_108134221del GRCh38
NC_000011.9:g.108004666_108004948del , CM000673.1:g.108004666_108004948del GRCh37
NC_000011.8:g.107509876_107510158del NCBI36
NG_009888.1:g.17409_17691del
NG_009888.2:g.22235_22517del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.238+2_239del
ENST00000671707.1:n.333+2_334del
ENST00000672008.1:c.238+2_239del
ENST00000672031.1:c.238+2_239del
ENST00000672284.1:c.-33+2_-32del
ENST00000672354.1:c.238+2_239del
ENST00000672367.1:c.73-4959_73-4677del ENSP00000500209.1:n.73-4959_73-4677del
ENST00000672580.1:c.238+2_239del
ENST00000672907.1:c.120+1985_120+2267del ENSP00000500928.1:n.120+1985_120+2267del
ENST00000673000.1:n.326+2_327del
ENST00000673531.1:c.-33+2_-32del
ENST00000265838.8:c.238+2_239del
ENST00000299355.10:c.238+2_239del
ENST00000524833.5:n.278+2_279del
ENST00000527942.5:c.-33+2_-32del
ENST00000528370.1:c.44+2_45del
ENST00000531813.5:c.238+2_239del
ENST00000531853.5:n.502+2_503del
NM_000019.3:c.238+2_239del
XM_006718834.2:c.-33+2_-32del
XM_006718835.2:c.-33+2_-32del
XM_006718835.3:c.-33+2_-32del
XM_017017681.1:c.-33+2_-32del
XM_017017682.2:c.-40+2_-39del
XM_017017683.2:c.-40+2_-39del
XM_024448511.1:c.-33+2_-32del
XM_024448512.1:c.-33+2_-32del
XM_024448513.1:c.-33+2_-32del
XM_024448514.1:c.-33+2_-32del
XM_024448515.1:c.-33+2_-32del
NM_000019.4:c.238+2_239del
NM_001386677.1:c.238+2_239del
NM_001386678.1:c.120+1985_120+2267del NP_001373607.1:n.120+1985_120+2267del
NM_001386679.1:c.-40+2_-39del
NM_001386681.1:c.-33+2_-32del
NM_001386682.1:c.-33+2_-32del
NM_001386685.1:c.-33+2_-32del
NM_001386686.1:c.-33+2_-32del
NM_001386687.1:c.-33+2_-32del
NM_001386688.1:c.-33+2_-32del
NM_001386689.1:c.-33+2_-32del
NM_001386690.1:c.-33+2_-32del
NM_001386691.1:c.-33+2_-32del
NR_170162.1:n.278+2_279del
NR_170163.1:n.372+2_373del