Canonical Allele Identifier: CA233438
Gene: ACAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 166649
dbSNP Id: rs727503795

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108138906_108138907del , CM000673.2:g.108138906_108138907del GRCh38
NC_000011.9:g.108009633_108009634del , CM000673.1:g.108009633_108009634del GRCh37
NC_000011.8:g.107514843_107514844del NCBI36
NG_009888.1:g.22376_22377del
NG_009888.2:g.27202_27203del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.444_445del MANE Select ENSP00000265838.4:p.Met148IlefsTer28
ENST00000671707.1:n.539_540del
ENST00000672008.1:c.*2_*3del ENSP00000500499.1:n.*2_*3del
ENST00000672031.1:c.444_445del ENSP00000500463.1:p.Met148IlefsTer28
ENST00000672284.1:c.174_175del ENSP00000500444.1:p.Met58IlefsTer28
ENST00000672354.1:c.444_445del ENSP00000500490.1:p.Met148IlefsTer28
ENST00000672367.1:c.81_82del ENSP00000500209.1:p.Met27IlefsTer28
ENST00000672580.1:c.444_445del ENSP00000500366.1:p.Met148IlefsTer28
ENST00000672907.1:c.129_130del ENSP00000500928.1:p.Met43IlefsTer28
ENST00000673000.1:n.532_533del
ENST00000673531.1:c.174_175del ENSP00000500163.1:p.Met58IlefsTer28
ENST00000265838.8:c.444_445del ENSP00000265838.4:p.Met148IlefsTer28
ENST00000528370.1:c.250_251del
ENST00000531813.5:c.343_344del ENSP00000435965.1:p.Gly115TrpfsTer14
ENST00000534773.1:n.187_188del
NM_000019.3:c.444_445del NP_000010.1:p.Met148IlefsTer28
XM_006718834.2:c.174_175del XP_006718897.1:p.Met58IlefsTer28
XM_006718835.2:c.174_175del XP_006718898.1:p.Met58IlefsTer28
XM_006718835.3:c.174_175del XP_006718898.1:p.Met58IlefsTer28
XM_017017681.1:c.174_175del XP_016873170.1:p.Met58IlefsTer28
XM_017017682.2:c.66_67del XP_016873171.1:p.Met22IlefsTer28
XM_017017683.2:c.66_67del XP_016873172.1:p.Met22IlefsTer28
XM_024448511.1:c.174_175del XP_024304279.1:p.Met58IlefsTer28
XM_024448512.1:c.174_175del XP_024304280.1:p.Met58IlefsTer28
XM_024448513.1:c.174_175del XP_024304281.1:p.Met58IlefsTer28
XM_024448514.1:c.174_175del XP_024304282.1:p.Met58IlefsTer28
XM_024448515.1:c.174_175del XP_024304283.1:p.Met58IlefsTer28
NM_000019.4:c.444_445del MANE Select NP_000010.1:p.Met148IlefsTer28
NM_001386677.1:c.444_445del NP_001373606.1:p.Met148IlefsTer28
NM_001386678.1:c.129_130del NP_001373607.1:p.Met43IlefsTer28
NM_001386679.1:c.147_148del NP_001373608.1:p.Met49IlefsTer28
NM_001386681.1:c.174_175del NP_001373610.1:p.Met58IlefsTer28
NM_001386682.1:c.174_175del NP_001373611.1:p.Met58IlefsTer28
NM_001386685.1:c.174_175del NP_001373614.1:p.Met58IlefsTer28
NM_001386686.1:c.174_175del NP_001373615.1:p.Met58IlefsTer28
NM_001386687.1:c.174_175del NP_001373616.1:p.Met58IlefsTer28
NM_001386688.1:c.174_175del NP_001373617.1:p.Met58IlefsTer28
NM_001386689.1:c.174_175del NP_001373618.1:p.Met58IlefsTer28
NM_001386690.1:c.174_175del NP_001373619.1:p.Met58IlefsTer28
NM_001386691.1:c.174_175del NP_001373620.1:p.Met58IlefsTer28
NR_170162.1:n.484_485del
NR_170163.1:n.477_478del