Canonical Allele Identifier: CA1998717122
Gene: ACAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108139158_108139159delinsGC , CM000673.2:g.108139158_108139159delinsGC GRCh38
NC_000011.9:g.108009885_108009886delinsGC , CM000673.1:g.108009885_108009886delinsGC GRCh37
NC_000011.8:g.107515095_107515096delinsGC NCBI36
NG_009888.1:g.22628_22629delinsGC
NG_009888.2:g.27454_27455delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.579+117_579+118delinsGC MANE Select ENSP00000265838.4:n.579+117_579+118delinsGC
ENST00000671707.1:n.674+117_674+118delinsGC
ENST00000672008.1:c.*137+117_*137+118delinsGC ENSP00000500499.1:n.*137+117_*137+118delinsGC
ENST00000672031.1:c.579+117_579+118delinsGC ENSP00000500463.1:n.579+117_579+118delinsGC
ENST00000672284.1:c.309+117_309+118delinsGC ENSP00000500444.1:n.309+117_309+118delinsGC
ENST00000672354.1:c.579+117_579+118delinsGC ENSP00000500490.1:n.579+117_579+118delinsGC
ENST00000672367.1:c.216+117_216+118delinsGC ENSP00000500209.1:n.216+117_216+118delinsGC
ENST00000672580.1:c.579+117_579+118delinsGC ENSP00000500366.1:n.579+117_579+118delinsGC
ENST00000672907.1:c.264+117_264+118delinsGC ENSP00000500928.1:n.264+117_264+118delinsGC
ENST00000673000.1:n.667+117_667+118delinsGC
ENST00000673531.1:c.309+117_309+118delinsGC ENSP00000500163.1:n.309+117_309+118delinsGC
ENST00000265838.8:c.579+117_579+118delinsGC ENSP00000265838.4:n.579+117_579+118delinsGC
ENST00000528370.1:c.502_503delinsGC
ENST00000531813.5:c.*52+117_*52+118delinsGC ENSP00000435965.1:n.*52+117_*52+118delinsGC
ENST00000532792.5:n.74+117_74+118delinsGC
ENST00000534773.1:n.322+117_322+118delinsGC
NM_000019.3:c.579+117_579+118delinsGC NP_000010.1:n.579+117_579+118delinsGC
XM_006718834.2:c.309+117_309+118delinsGC XP_006718897.1:n.309+117_309+118delinsGC
XM_006718835.2:c.309+117_309+118delinsGC XP_006718898.1:n.309+117_309+118delinsGC
XM_006718835.3:c.309+117_309+118delinsGC XP_006718898.1:n.309+117_309+118delinsGC
XM_017017681.1:c.309+117_309+118delinsGC XP_016873170.1:n.309+117_309+118delinsGC
XM_017017682.2:c.201+117_201+118delinsGC XP_016873171.1:n.201+117_201+118delinsGC
XM_017017683.2:c.201+117_201+118delinsGC XP_016873172.1:n.201+117_201+118delinsGC
XM_024448511.1:c.309+117_309+118delinsGC XP_024304279.1:n.309+117_309+118delinsGC
XM_024448512.1:c.309+117_309+118delinsGC XP_024304280.1:n.309+117_309+118delinsGC
XM_024448513.1:c.309+117_309+118delinsGC XP_024304281.1:n.309+117_309+118delinsGC
XM_024448514.1:c.309+117_309+118delinsGC XP_024304282.1:n.309+117_309+118delinsGC
XM_024448515.1:c.309+117_309+118delinsGC XP_024304283.1:n.309+117_309+118delinsGC
NM_000019.4:c.579+117_579+118delinsGC MANE Select NP_000010.1:n.579+117_579+118delinsGC
NM_001386677.1:c.579+117_579+118delinsGC NP_001373606.1:n.579+117_579+118delinsGC
NM_001386678.1:c.264+117_264+118delinsGC NP_001373607.1:n.264+117_264+118delinsGC
NM_001386679.1:c.282+117_282+118delinsGC NP_001373608.1:n.282+117_282+118delinsGC
NM_001386681.1:c.309+117_309+118delinsGC NP_001373610.1:n.309+117_309+118delinsGC
NM_001386682.1:c.309+117_309+118delinsGC NP_001373611.1:n.309+117_309+118delinsGC
NM_001386685.1:c.309+117_309+118delinsGC NP_001373614.1:n.309+117_309+118delinsGC
NM_001386686.1:c.309+117_309+118delinsGC NP_001373615.1:n.309+117_309+118delinsGC
NM_001386687.1:c.309+117_309+118delinsGC NP_001373616.1:n.309+117_309+118delinsGC
NM_001386688.1:c.309+117_309+118delinsGC NP_001373617.1:n.309+117_309+118delinsGC
NM_001386689.1:c.309+117_309+118delinsGC NP_001373618.1:n.309+117_309+118delinsGC
NM_001386690.1:c.309+117_309+118delinsGC NP_001373619.1:n.309+117_309+118delinsGC
NM_001386691.1:c.309+117_309+118delinsGC NP_001373620.1:n.309+117_309+118delinsGC
NR_170162.1:n.619+117_619+118delinsGC
NR_170163.1:n.612+117_612+118delinsGC