Canonical Allele Identifier: CA601956111

Gene: ACAT1

Linked Data

• dbSNP Id: rs1440530637
• gnomAD v2: 11-108016990-TTAGTC-T
• gnomAD v4: 11-108146263-TTAGTC-T
• MyVariant Identifiers: chr11:g.108016991_108016995del (hg19) ; chr11:g.108146264_108146268del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108146265_108146269del , CM000673.2:g.108146265_108146269del	GRCh38
NC_000011.9:g.108016992_108016996del , CM000673.1:g.108016992_108016996del	GRCh37
NC_000011.8:g.107522202_107522206del	NCBI36
NG_009888.1:g.29735_29739del
NG_009888.2:g.34561_34565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1069_1073del MANE Select	ENSP00000265838.4:p.Ser357GlyfsTer7
ENST00000671707.1:n.1164_1168del
ENST00000672031.1:c.*56_*60del	ENSP00000500463.1:n.*56_*60del
ENST00000672284.1:c.799_803del	ENSP00000500444.1:p.Ser267GlyfsTer7
ENST00000672354.1:c.1069_1073del	ENSP00000500490.1:p.Ser357GlyfsTer7
ENST00000672367.1:c.706_710del	ENSP00000500209.1:p.Ser236GlyfsTer7
ENST00000672580.1:c.*324_*328del	ENSP00000500366.1:n.*324_*328del
ENST00000672907.1:c.754_758del	ENSP00000500928.1:p.Ser252GlyfsTer7
ENST00000673000.1:n.1157_1161del
ENST00000673531.1:c.799_803del	ENSP00000500163.1:p.Ser267GlyfsTer7
ENST00000265838.8:c.1069_1073del	ENSP00000265838.4:p.Ser357GlyfsTer7
ENST00000533597.1:n.145_149del
NM_000019.3:c.1069_1073del	NP_000010.1:p.Ser357GlyfsTer7
XM_006718834.2:c.799_803del	XP_006718897.1:p.Ser267GlyfsTer7
XM_006718835.2:c.799_803del	XP_006718898.1:p.Ser267GlyfsTer7
XM_006718835.3:c.799_803del	XP_006718898.1:p.Ser267GlyfsTer7
XM_017017681.1:c.799_803del	XP_016873170.1:p.Ser267GlyfsTer7
XM_017017682.2:c.691_695del	XP_016873171.1:p.Ser231GlyfsTer7
XM_017017683.2:c.691_695del	XP_016873172.1:p.Ser231GlyfsTer7
XM_024448511.1:c.799_803del	XP_024304279.1:p.Ser267GlyfsTer7
XM_024448512.1:c.799_803del	XP_024304280.1:p.Ser267GlyfsTer7
XM_024448513.1:c.799_803del	XP_024304281.1:p.Ser267GlyfsTer7
XM_024448514.1:c.799_803del	XP_024304282.1:p.Ser267GlyfsTer7
XM_024448515.1:c.799_803del	XP_024304283.1:p.Ser267GlyfsTer7
NM_000019.4:c.1069_1073del MANE Select	NP_000010.1:p.Ser357GlyfsTer7
NM_001386677.1:c.1069_1073del	NP_001373606.1:p.Ser357GlyfsTer7
NM_001386678.1:c.754_758del	NP_001373607.1:p.Ser252GlyfsTer7
NM_001386679.1:c.772_776del	NP_001373608.1:p.Ser258GlyfsTer7
NM_001386681.1:c.799_803del	NP_001373610.1:p.Ser267GlyfsTer7
NM_001386682.1:c.799_803del	NP_001373611.1:p.Ser267GlyfsTer7
NM_001386685.1:c.799_803del	NP_001373614.1:p.Ser267GlyfsTer7
NM_001386686.1:c.799_803del	NP_001373615.1:p.Ser267GlyfsTer7
NM_001386687.1:c.799_803del	NP_001373616.1:p.Ser267GlyfsTer7
NM_001386688.1:c.799_803del	NP_001373617.1:p.Ser267GlyfsTer7
NM_001386689.1:c.799_803del	NP_001373618.1:p.Ser267GlyfsTer7
NM_001386690.1:c.799_803del	NP_001373619.1:p.Ser267GlyfsTer7
NM_001386691.1:c.799_803del	NP_001373620.1:p.Ser267GlyfsTer7
NR_170162.1:n.1044_1048del
NR_170163.1:n.1102_1106del