Canonical Allele Identifier: CA2574969908
Gene: ACAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108138904_108138906del , CM000673.2:g.108138904_108138906del GRCh38
NC_000011.9:g.108009631_108009633del , CM000673.1:g.108009631_108009633del GRCh37
NC_000011.8:g.107514841_107514843del NCBI36
NG_009888.1:g.22374_22376del
NG_009888.2:g.27200_27202del

Transcript Alleles

HGVS Amino-acid change
ENST00000265838.9:c.442_444del MANE Select ENSP00000265838.4:p.Met148del
ENST00000671707.1:n.537_539del
ENST00000672008.1:c.321_*2del ENSP00000500499.1:n.[c.321_*2del;Ter107Tr...
ENST00000672031.1:c.442_444del ENSP00000500463.1:p.Met148del
ENST00000672284.1:c.172_174del ENSP00000500444.1:p.Met58del
ENST00000672354.1:c.442_444del ENSP00000500490.1:p.Met148del
ENST00000672367.1:c.79_81del ENSP00000500209.1:p.Met27del
ENST00000672580.1:c.442_444del ENSP00000500366.1:p.Met148del
ENST00000672907.1:c.127_129del ENSP00000500928.1:p.Met43del
ENST00000673000.1:n.530_532del
ENST00000673531.1:c.172_174del ENSP00000500163.1:p.Met58del
ENST00000265838.8:c.442_444del ENSP00000265838.4:p.Met148del
ENST00000528370.1:c.248_250del
ENST00000531813.5:c.341_343del ENSP00000435965.1:p.Asp114del
ENST00000534773.1:n.185_187del
NM_000019.3:c.442_444del NP_000010.1:p.Met148del
XM_006718834.2:c.172_174del XP_006718897.1:p.Met58del
XM_006718835.2:c.172_174del XP_006718898.1:p.Met58del
XM_006718835.3:c.172_174del XP_006718898.1:p.Met58del
XM_017017681.1:c.172_174del XP_016873170.1:p.Met58del
XM_017017682.2:c.64_66del XP_016873171.1:p.Met22del
XM_017017683.2:c.64_66del XP_016873172.1:p.Met22del
XM_024448511.1:c.172_174del XP_024304279.1:p.Met58del
XM_024448512.1:c.172_174del XP_024304280.1:p.Met58del
XM_024448513.1:c.172_174del XP_024304281.1:p.Met58del
XM_024448514.1:c.172_174del XP_024304282.1:p.Met58del
XM_024448515.1:c.172_174del XP_024304283.1:p.Met58del
NM_000019.4:c.442_444del MANE Select NP_000010.1:p.Met148del
NM_001386677.1:c.442_444del NP_001373606.1:p.Met148del
NM_001386678.1:c.127_129del NP_001373607.1:p.Met43del
NM_001386679.1:c.145_147del NP_001373608.1:p.Met49del
NM_001386681.1:c.172_174del NP_001373610.1:p.Met58del
NM_001386682.1:c.172_174del NP_001373611.1:p.Met58del
NM_001386685.1:c.172_174del NP_001373614.1:p.Met58del
NM_001386686.1:c.172_174del NP_001373615.1:p.Met58del
NM_001386687.1:c.172_174del NP_001373616.1:p.Met58del
NM_001386688.1:c.172_174del NP_001373617.1:p.Met58del
NM_001386689.1:c.172_174del NP_001373618.1:p.Met58del
NM_001386690.1:c.172_174del NP_001373619.1:p.Met58del
NM_001386691.1:c.172_174del NP_001373620.1:p.Met58del
NR_170162.1:n.482_484del
NR_170163.1:n.475_477del