Canonical Allele Identifier: CA2739270894

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 2808215
• ClinVar RCV Id: RCV003606126

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147375_108147376dup , CM000673.2:g.108147375_108147376dup	GRCh38
NC_000011.9:g.108018102_108018103dup , CM000673.1:g.108018102_108018103dup	GRCh37
NC_000011.8:g.107523312_107523313dup	NCBI36
NG_009888.1:g.30845_30846dup
NG_009888.2:g.35671_35672dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1269_1270dup MANE Select	ENSP00000265838.4:p.Ile424LysfsTer?
ENST00000671707.1:n.1364_1365dup
ENST00000672031.1:c.*256_*257dup	ENSP00000500463.1:n.*256_*257dup
ENST00000672284.1:c.999_1000dup	ENSP00000500444.1:p.Ile334LysfsTer?
ENST00000672354.1:c.1290_1291dup	ENSP00000500490.1:p.Ile431LysfsTer?
ENST00000672367.1:c.906_907dup	ENSP00000500209.1:p.Ile303LysfsTer?
ENST00000672580.1:c.*524_*525dup	ENSP00000500366.1:n.*524_*525dup
ENST00000672907.1:c.954_955dup	ENSP00000500928.1:p.Ile319LysfsTer?
ENST00000673000.1:n.1357_1358dup
ENST00000673531.1:c.999_1000dup	ENSP00000500163.1:p.Ile334LysfsTer?
ENST00000265838.8:c.1269_1270dup	ENSP00000265838.4:p.Ile424LysfsTer?
ENST00000533597.1:n.345_346dup
NM_000019.3:c.1269_1270dup	NP_000010.1:p.Ile424LysfsTer?
XM_006718834.2:c.999_1000dup	XP_006718897.1:p.Ile334LysfsTer?
XM_006718835.2:c.999_1000dup	XP_006718898.1:p.Ile334LysfsTer?
XM_006718835.3:c.999_1000dup	XP_006718898.1:p.Ile334LysfsTer?
XM_017017681.1:c.999_1000dup	XP_016873170.1:p.Ile334LysfsTer?
XM_017017682.2:c.891_892dup	XP_016873171.1:p.Ile298LysfsTer?
XM_017017683.2:c.891_892dup	XP_016873172.1:p.Ile298LysfsTer?
XM_024448511.1:c.999_1000dup	XP_024304279.1:p.Ile334LysfsTer?
XM_024448512.1:c.999_1000dup	XP_024304280.1:p.Ile334LysfsTer?
XM_024448513.1:c.999_1000dup	XP_024304281.1:p.Ile334LysfsTer?
XM_024448514.1:c.999_1000dup	XP_024304282.1:p.Ile334LysfsTer?
XM_024448515.1:c.999_1000dup	XP_024304283.1:p.Ile334LysfsTer?
NM_000019.4:c.1269_1270dup MANE Select	NP_000010.1:p.Ile424LysfsTer?
NM_001386677.1:c.1290_1291dup	NP_001373606.1:p.Ile431LysfsTer?
NM_001386678.1:c.954_955dup	NP_001373607.1:p.Ile319LysfsTer?
NM_001386679.1:c.972_973dup	NP_001373608.1:p.Ile325LysfsTer?
NM_001386681.1:c.999_1000dup	NP_001373610.1:p.Ile334LysfsTer?
NM_001386682.1:c.999_1000dup	NP_001373611.1:p.Ile334LysfsTer?
NM_001386685.1:c.999_1000dup	NP_001373614.1:p.Ile334LysfsTer?
NM_001386686.1:c.999_1000dup	NP_001373615.1:p.Ile334LysfsTer?
NM_001386687.1:c.999_1000dup	NP_001373616.1:p.Ile334LysfsTer?
NM_001386688.1:c.999_1000dup	NP_001373617.1:p.Ile334LysfsTer?
NM_001386689.1:c.999_1000dup	NP_001373618.1:p.Ile334LysfsTer?
NM_001386690.1:c.999_1000dup	NP_001373619.1:p.Ile334LysfsTer?
NM_001386691.1:c.999_1000dup	NP_001373620.1:p.Ile334LysfsTer?
NR_170162.1:n.1244_1245dup
NR_170163.1:n.1302_1303dup