Canonical Allele Identifier: CA2615845061

Gene: ACAT1

Linked Data

• gnomAD v4: 11-108147324-ATACGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147326_108147330del , CM000673.2:g.108147326_108147330del	GRCh38
NC_000011.9:g.108018053_108018057del , CM000673.1:g.108018053_108018057del	GRCh37
NC_000011.8:g.107523263_107523267del	NCBI36
NG_009888.1:g.30796_30800del
NG_009888.2:g.35622_35626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1220_1224del MANE Select	ENSP00000265838.4:p.Tyr407SerfsTer?
ENST00000671707.1:n.1315_1319del
ENST00000672031.1:c.*207_*211del	ENSP00000500463.1:n.*207_*211del
ENST00000672284.1:c.950_954del	ENSP00000500444.1:p.Tyr317SerfsTer?
ENST00000672354.1:c.1241_1245del	ENSP00000500490.1:p.Tyr414SerfsTer?
ENST00000672367.1:c.857_861del	ENSP00000500209.1:p.Tyr286SerfsTer?
ENST00000672580.1:c.*475_*479del	ENSP00000500366.1:n.*475_*479del
ENST00000672907.1:c.905_909del	ENSP00000500928.1:p.Tyr302SerfsTer?
ENST00000673000.1:n.1308_1312del
ENST00000673531.1:c.950_954del	ENSP00000500163.1:p.Tyr317SerfsTer?
ENST00000265838.8:c.1220_1224del	ENSP00000265838.4:p.Tyr407SerfsTer?
ENST00000533597.1:n.296_300del
NM_000019.3:c.1220_1224del	NP_000010.1:p.Tyr407SerfsTer?
XM_006718834.2:c.950_954del	XP_006718897.1:p.Tyr317SerfsTer?
XM_006718835.2:c.950_954del	XP_006718898.1:p.Tyr317SerfsTer?
XM_006718835.3:c.950_954del	XP_006718898.1:p.Tyr317SerfsTer?
XM_017017681.1:c.950_954del	XP_016873170.1:p.Tyr317SerfsTer?
XM_017017682.2:c.842_846del	XP_016873171.1:p.Tyr281SerfsTer?
XM_017017683.2:c.842_846del	XP_016873172.1:p.Tyr281SerfsTer?
XM_024448511.1:c.950_954del	XP_024304279.1:p.Tyr317SerfsTer?
XM_024448512.1:c.950_954del	XP_024304280.1:p.Tyr317SerfsTer?
XM_024448513.1:c.950_954del	XP_024304281.1:p.Tyr317SerfsTer?
XM_024448514.1:c.950_954del	XP_024304282.1:p.Tyr317SerfsTer?
XM_024448515.1:c.950_954del	XP_024304283.1:p.Tyr317SerfsTer?
NM_000019.4:c.1220_1224del MANE Select	NP_000010.1:p.Tyr407SerfsTer?
NM_001386677.1:c.1241_1245del	NP_001373606.1:p.Tyr414SerfsTer?
NM_001386678.1:c.905_909del	NP_001373607.1:p.Tyr302SerfsTer?
NM_001386679.1:c.923_927del	NP_001373608.1:p.Tyr308SerfsTer?
NM_001386681.1:c.950_954del	NP_001373610.1:p.Tyr317SerfsTer?
NM_001386682.1:c.950_954del	NP_001373611.1:p.Tyr317SerfsTer?
NM_001386685.1:c.950_954del	NP_001373614.1:p.Tyr317SerfsTer?
NM_001386686.1:c.950_954del	NP_001373615.1:p.Tyr317SerfsTer?
NM_001386687.1:c.950_954del	NP_001373616.1:p.Tyr317SerfsTer?
NM_001386688.1:c.950_954del	NP_001373617.1:p.Tyr317SerfsTer?
NM_001386689.1:c.950_954del	NP_001373618.1:p.Tyr317SerfsTer?
NM_001386690.1:c.950_954del	NP_001373619.1:p.Tyr317SerfsTer?
NM_001386691.1:c.950_954del	NP_001373620.1:p.Tyr317SerfsTer?
NR_170162.1:n.1195_1199del
NR_170163.1:n.1253_1257del