Canonical Allele Identifier: CA601959393
Gene: ACAT1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108121658dup , CM000673.2:g.108121658dup GRCh38
NC_000011.9:g.107992385dup , CM000673.1:g.107992385dup GRCh37
NC_000011.8:g.107497595dup NCBI36
NG_009888.1:g.5128dup
NG_009888.2:g.9954dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265838.9:c.52dup MANE Select ENSP00000265838.4:p.Leu18ProfsTer?
ENST00000672008.1:c.52dup ENSP00000500499.1:p.Leu18ProfsTer?
ENST00000672031.1:c.52dup ENSP00000500463.1:p.Leu18ProfsTer?
ENST00000672284.1:c.-199+4756dup ENSP00000500444.1:n.-199+4756dup
ENST00000672354.1:c.52dup ENSP00000500490.1:p.Leu18ProfsTer?
ENST00000672367.1:c.52dup ENSP00000500209.1:p.Leu18ProfsTer?
ENST00000672580.1:c.52dup ENSP00000500366.1:p.Leu18ProfsTer?
ENST00000672907.1:c.52dup ENSP00000500928.1:p.Leu18ProfsTer?
ENST00000673531.1:c.-313dup ENSP00000500163.1:n.-313dup
ENST00000265838.8:c.52dup ENSP00000265838.4:p.Leu18ProfsTer?
ENST00000299355.10:c.52dup ENSP00000299355.6:p.Leu18ProfsTer?
ENST00000524833.5:n.92dup
ENST00000531813.5:c.52dup ENSP00000435965.1:p.Leu18ProfsTer?
NM_000019.3:c.52dup NP_000010.1:p.Leu18ProfsTer?
XM_017017681.1:c.-313dup XP_016873170.1:n.-313dup
XM_017017682.2:c.-226dup XP_016873171.1:n.-226dup
XM_017017683.2:c.-320dup XP_016873172.1:n.-320dup
XM_024448512.1:c.-199+4756dup XP_024304280.1:n.-199+4756dup
NM_000019.4:c.52dup MANE Select NP_000010.1:p.Leu18ProfsTer?
NM_001386677.1:c.52dup NP_001373606.1:p.Leu18ProfsTer?
NM_001386678.1:c.52dup NP_001373607.1:p.Leu18ProfsTer?
NM_001386679.1:c.-226dup NP_001373608.1:n.-226dup
NM_001386681.1:c.-199+4756dup NP_001373610.1:n.-199+4756dup
NM_001386682.1:c.-416+4756dup NP_001373611.1:n.-416+4756dup
NM_001386685.1:c.-313dup NP_001373614.1:n.-313dup
NM_001386686.1:c.-318dup NP_001373615.1:n.-318dup
NR_170162.1:n.92dup
NR_170163.1:n.92dup
Search 100 bp 5'
Search 100 bp 3'