Canonical Allele Identifier: CA3054209051
Gene: ACAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108134273_108134297dup , CM000673.2:g.108134273_108134297dup GRCh38
NC_000011.9:g.108005000_108005024dup , CM000673.1:g.108005000_108005024dup GRCh37
NC_000011.8:g.107510210_107510234dup NCBI36
NG_009888.1:g.17743_17767dup
NG_009888.2:g.22569_22593dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.291_315dup MANE Select ENSP00000265838.4:p.Gln106ArgfsTer2
ENST00000671707.1:n.386_410dup
ENST00000672008.1:c.291_314+1dup
ENST00000672031.1:c.291_315dup ENSP00000500463.1:p.Gln106ArgfsTer2
ENST00000672284.1:c.21_45dup ENSP00000500444.1:p.Gln16ArgfsTer2
ENST00000672354.1:c.291_315dup ENSP00000500490.1:p.Gln106ArgfsTer2
ENST00000672367.1:c.73-4625_73-4601dup ENSP00000500209.1:n.73-4625_73-4601dup
ENST00000672580.1:c.291_315dup ENSP00000500366.1:p.Gln106ArgfsTer2
ENST00000672907.1:c.120+2319_120+2343dup ENSP00000500928.1:n.120+2319_120+2343dup
ENST00000673000.1:n.379_403dup
ENST00000673531.1:c.21_45dup ENSP00000500163.1:p.Gln16ArgfsTer2
ENST00000265838.8:c.291_315dup ENSP00000265838.4:p.Gln106ArgfsTer2
ENST00000299355.10:c.291_315dup ENSP00000299355.6:p.Gln106ArgfsTer2
ENST00000524833.5:n.331_355dup
ENST00000527942.5:c.21_45dup ENSP00000433568.1:p.Gln16ArgfsTer2
ENST00000528370.1:c.97_121dup
ENST00000531813.5:c.291_315dup ENSP00000435965.1:p.Gln106ArgfsTer2
NM_000019.3:c.291_315dup NP_000010.1:p.Gln106ArgfsTer2
XM_006718834.2:c.21_45dup XP_006718897.1:p.Gln16ArgfsTer2
XM_006718835.2:c.21_45dup XP_006718898.1:p.Gln16ArgfsTer2
XM_006718835.3:c.21_45dup XP_006718898.1:p.Gln16ArgfsTer2
XM_017017681.1:c.21_45dup XP_016873170.1:p.Gln16ArgfsTer2
XM_017017682.2:c.14_38dup XP_016873171.1:p.Arg14GlyfsTer?
XM_017017683.2:c.14_38dup XP_016873172.1:p.Arg14GlyfsTer?
XM_024448511.1:c.21_45dup XP_024304279.1:p.Gln16ArgfsTer2
XM_024448512.1:c.21_45dup XP_024304280.1:p.Gln16ArgfsTer2
XM_024448513.1:c.21_45dup XP_024304281.1:p.Gln16ArgfsTer2
XM_024448514.1:c.21_45dup XP_024304282.1:p.Gln16ArgfsTer2
XM_024448515.1:c.21_45dup XP_024304283.1:p.Gln16ArgfsTer2
NM_000019.4:c.291_315dup MANE Select NP_000010.1:p.Gln106ArgfsTer2
NM_001386677.1:c.291_315dup NP_001373606.1:p.Gln106ArgfsTer2
NM_001386678.1:c.120+2319_120+2343dup NP_001373607.1:n.120+2319_120+2343dup
NM_001386679.1:c.14_37+1dup
NM_001386681.1:c.21_45dup NP_001373610.1:p.Gln16ArgfsTer2
NM_001386682.1:c.21_45dup NP_001373611.1:p.Gln16ArgfsTer2
NM_001386685.1:c.21_45dup NP_001373614.1:p.Gln16ArgfsTer2
NM_001386686.1:c.21_45dup NP_001373615.1:p.Gln16ArgfsTer2
NM_001386687.1:c.21_45dup NP_001373616.1:p.Gln16ArgfsTer2
NM_001386688.1:c.21_45dup NP_001373617.1:p.Gln16ArgfsTer2
NM_001386689.1:c.21_45dup NP_001373618.1:p.Gln16ArgfsTer2
NM_001386690.1:c.21_45dup NP_001373619.1:p.Gln16ArgfsTer2
NM_001386691.1:c.21_45dup NP_001373620.1:p.Gln16ArgfsTer2
NR_170162.1:n.331_355dup
NR_170163.1:n.425_449dup