Canonical Allele Identifier: CA2615813478

Gene: ACAT1

Linked Data

• gnomAD v4: 11-108135335-G-GAAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108135336_108135337insAAGAA , CM000673.2:g.108135336_108135337insAAGAA	GRCh38
NC_000011.9:g.108006063_108006064insAAGAA , CM000673.1:g.108006063_108006064insAAGAA	GRCh37
NC_000011.8:g.107511273_107511274insAAGAA	NCBI36
NG_009888.1:g.18806_18807insAAGAA
NG_009888.2:g.23632_23633insAAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.435+94_435+95insAAGAA MANE Select	ENSP00000265838.4:n.435+94_435+95insAAGAA
ENST00000671707.1:n.530+94_530+95insAAGAA
ENST00000672008.1:c.314+1040_314+1041insAAGAA	ENSP00000500499.1:n.314+1040_314+1041insAAGAA
ENST00000672031.1:c.435+94_435+95insAAGAA	ENSP00000500463.1:n.435+94_435+95insAAGAA
ENST00000672284.1:c.165+94_165+95insAAGAA	ENSP00000500444.1:n.165+94_165+95insAAGAA
ENST00000672354.1:c.435+94_435+95insAAGAA	ENSP00000500490.1:n.435+94_435+95insAAGAA
ENST00000672367.1:c.73-3562_73-3561insAAGAA	ENSP00000500209.1:n.73-3562_73-3561insAAGAA
ENST00000672580.1:c.435+94_435+95insAAGAA	ENSP00000500366.1:n.435+94_435+95insAAGAA
ENST00000672907.1:c.120+3382_120+3383insAAGAA	ENSP00000500928.1:n.120+3382_120+3383insAAGAA
ENST00000673000.1:n.523+94_523+95insAAGAA
ENST00000673531.1:c.165+94_165+95insAAGAA	ENSP00000500163.1:n.165+94_165+95insAAGAA
ENST00000265838.8:c.435+94_435+95insAAGAA	ENSP00000265838.4:n.435+94_435+95insAAGAA
ENST00000299355.10:c.435+94_435+95insAAGAA	ENSP00000299355.6:n.435+94_435+95insAAGAA
ENST00000528370.1:c.241+94_241+95insAAGAA
ENST00000531813.5:c.334+1020_334+1021insAAGAA	ENSP00000435965.1:n.334+1020_334+1021insAAGAA
NM_000019.3:c.435+94_435+95insAAGAA	NP_000010.1:n.435+94_435+95insAAGAA
XM_006718834.2:c.165+94_165+95insAAGAA	XP_006718897.1:n.165+94_165+95insAAGAA
XM_006718835.2:c.165+94_165+95insAAGAA	XP_006718898.1:n.165+94_165+95insAAGAA
XM_006718835.3:c.165+94_165+95insAAGAA	XP_006718898.1:n.165+94_165+95insAAGAA
XM_017017681.1:c.165+94_165+95insAAGAA	XP_016873170.1:n.165+94_165+95insAAGAA
XM_017017682.2:c.57+1020_57+1021insAAGAA	XP_016873171.1:n.57+1020_57+1021insAAGAA
XM_017017683.2:c.57+1020_57+1021insAAGAA	XP_016873172.1:n.57+1020_57+1021insAAGAA
XM_024448511.1:c.165+94_165+95insAAGAA	XP_024304279.1:n.165+94_165+95insAAGAA
XM_024448512.1:c.165+94_165+95insAAGAA	XP_024304280.1:n.165+94_165+95insAAGAA
XM_024448513.1:c.165+94_165+95insAAGAA	XP_024304281.1:n.165+94_165+95insAAGAA
XM_024448514.1:c.165+94_165+95insAAGAA	XP_024304282.1:n.165+94_165+95insAAGAA
XM_024448515.1:c.165+94_165+95insAAGAA	XP_024304283.1:n.165+94_165+95insAAGAA
NM_000019.4:c.435+94_435+95insAAGAA MANE Select	NP_000010.1:n.435+94_435+95insAAGAA
NM_001386677.1:c.435+94_435+95insAAGAA	NP_001373606.1:n.435+94_435+95insAAGAA
NM_001386678.1:c.120+3382_120+3383insAAGAA	NP_001373607.1:n.120+3382_120+3383insAAGAA
NM_001386679.1:c.138+94_138+95insAAGAA	NP_001373608.1:n.138+94_138+95insAAGAA
NM_001386681.1:c.165+94_165+95insAAGAA	NP_001373610.1:n.165+94_165+95insAAGAA
NM_001386682.1:c.165+94_165+95insAAGAA	NP_001373611.1:n.165+94_165+95insAAGAA
NM_001386685.1:c.165+94_165+95insAAGAA	NP_001373614.1:n.165+94_165+95insAAGAA
NM_001386686.1:c.165+94_165+95insAAGAA	NP_001373615.1:n.165+94_165+95insAAGAA
NM_001386687.1:c.165+94_165+95insAAGAA	NP_001373616.1:n.165+94_165+95insAAGAA
NM_001386688.1:c.165+94_165+95insAAGAA	NP_001373617.1:n.165+94_165+95insAAGAA
NM_001386689.1:c.165+94_165+95insAAGAA	NP_001373618.1:n.165+94_165+95insAAGAA
NM_001386690.1:c.165+94_165+95insAAGAA	NP_001373619.1:n.165+94_165+95insAAGAA
NM_001386691.1:c.165+94_165+95insAAGAA	NP_001373620.1:n.165+94_165+95insAAGAA
NR_170162.1:n.475+94_475+95insAAGAA
NR_170163.1:n.468+1020_468+1021insAAGAA