Canonical Allele Identifier: CA2501468652
Gene: ACAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108138809_108138815del , CM000673.2:g.108138809_108138815del GRCh38
NC_000011.9:g.108009536_108009542del , CM000673.1:g.108009536_108009542del GRCh37
NC_000011.8:g.107514746_107514752del NCBI36
NG_009888.1:g.22279_22285del
NG_009888.2:g.27105_27111del

Transcript Alleles

HGVS Amino-acid change
ENST00000265838.9:c.436-89_436-83del MANE Select ENSP00000265838.4:n.436-89_436-83del
ENST00000671707.1:n.531-89_531-83del
ENST00000672008.1:c.315-89_315-83del ENSP00000500499.1:n.315-89_315-83del
ENST00000672031.1:c.436-89_436-83del ENSP00000500463.1:n.436-89_436-83del
ENST00000672284.1:c.166-89_166-83del ENSP00000500444.1:n.166-89_166-83del
ENST00000672354.1:c.436-89_436-83del ENSP00000500490.1:n.436-89_436-83del
ENST00000672367.1:c.73-89_73-83del ENSP00000500209.1:n.73-89_73-83del
ENST00000672580.1:c.436-89_436-83del ENSP00000500366.1:n.436-89_436-83del
ENST00000672907.1:c.121-89_121-83del ENSP00000500928.1:n.121-89_121-83del
ENST00000673000.1:n.524-89_524-83del
ENST00000673531.1:c.166-89_166-83del ENSP00000500163.1:n.166-89_166-83del
ENST00000265838.8:c.436-89_436-83del ENSP00000265838.4:n.436-89_436-83del
ENST00000528370.1:c.242-89_242-83del
ENST00000531813.5:c.335-89_335-83del ENSP00000435965.1:n.335-89_335-83del
ENST00000534773.1:n.90_96del
NM_000019.3:c.436-89_436-83del NP_000010.1:n.436-89_436-83del
XM_006718834.2:c.166-89_166-83del XP_006718897.1:n.166-89_166-83del
XM_006718835.2:c.166-89_166-83del XP_006718898.1:n.166-89_166-83del
XM_006718835.3:c.166-89_166-83del XP_006718898.1:n.166-89_166-83del
XM_017017681.1:c.166-89_166-83del XP_016873170.1:n.166-89_166-83del
XM_017017682.2:c.58-89_58-83del XP_016873171.1:n.58-89_58-83del
XM_017017683.2:c.58-89_58-83del XP_016873172.1:n.58-89_58-83del
XM_024448511.1:c.166-89_166-83del XP_024304279.1:n.166-89_166-83del
XM_024448512.1:c.166-89_166-83del XP_024304280.1:n.166-89_166-83del
XM_024448513.1:c.166-89_166-83del XP_024304281.1:n.166-89_166-83del
XM_024448514.1:c.166-89_166-83del XP_024304282.1:n.166-89_166-83del
XM_024448515.1:c.166-89_166-83del XP_024304283.1:n.166-89_166-83del
NM_000019.4:c.436-89_436-83del MANE Select NP_000010.1:n.436-89_436-83del
NM_001386677.1:c.436-89_436-83del NP_001373606.1:n.436-89_436-83del
NM_001386678.1:c.121-89_121-83del NP_001373607.1:n.121-89_121-83del
NM_001386679.1:c.139-89_139-83del NP_001373608.1:n.139-89_139-83del
NM_001386681.1:c.166-89_166-83del NP_001373610.1:n.166-89_166-83del
NM_001386682.1:c.166-89_166-83del NP_001373611.1:n.166-89_166-83del
NM_001386685.1:c.166-89_166-83del NP_001373614.1:n.166-89_166-83del
NM_001386686.1:c.166-89_166-83del NP_001373615.1:n.166-89_166-83del
NM_001386687.1:c.166-89_166-83del NP_001373616.1:n.166-89_166-83del
NM_001386688.1:c.166-89_166-83del NP_001373617.1:n.166-89_166-83del
NM_001386689.1:c.166-89_166-83del NP_001373618.1:n.166-89_166-83del
NM_001386690.1:c.166-89_166-83del NP_001373619.1:n.166-89_166-83del
NM_001386691.1:c.166-89_166-83del NP_001373620.1:n.166-89_166-83del
NR_170162.1:n.476-89_476-83del
NR_170163.1:n.469-89_469-83del