Canonical Allele Identifier: CA6263396

Gene: ACAT1

Linked Data

• ClinVar Variation Id: 2920548
• ClinVar RCV Id: RCV003607015
• dbSNP Id: rs760366592
• ExAC: 11:108017986 C / CTTAAT
• gnomAD v2: 11-108017986-C-CTTAAT
• gnomAD v3: 11-108147259-C-CTTAAT
• gnomAD v4: 11-108147259-C-CTTAAT
• MyVariant Identifiers: chr11:g.108017986_108017987insTTAAT (hg19) ; chr11:g.108147259_108147260insTTAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147262_108147266dup , CM000673.2:g.108147262_108147266dup	GRCh38
NC_000011.9:g.108017989_108017993dup , CM000673.1:g.108017989_108017993dup	GRCh37
NC_000011.8:g.107523199_107523203dup	NCBI36
NG_009888.1:g.30732_30736dup
NG_009888.2:g.35558_35562dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1164-8_1164-4dup MANE Select	ENSP00000265838.4:n.1164-8_1164-4dup
ENST00000671707.1:n.1259-8_1259-4dup
ENST00000672031.1:c.*151-8_*151-4dup	ENSP00000500463.1:n.*151-8_*151-4dup
ENST00000672284.1:c.894-8_894-4dup	ENSP00000500444.1:n.894-8_894-4dup
ENST00000672354.1:c.1177_1181dup	ENSP00000500490.1:p.Phe394LeufsTer14
ENST00000672367.1:c.801-8_801-4dup	ENSP00000500209.1:n.801-8_801-4dup
ENST00000672580.1:c.*419-8_*419-4dup	ENSP00000500366.1:n.*419-8_*419-4dup
ENST00000672907.1:c.849-8_849-4dup	ENSP00000500928.1:n.849-8_849-4dup
ENST00000673000.1:n.1252-8_1252-4dup
ENST00000673531.1:c.894-8_894-4dup	ENSP00000500163.1:n.894-8_894-4dup
ENST00000265838.8:c.1164-8_1164-4dup	ENSP00000265838.4:n.1164-8_1164-4dup
ENST00000533597.1:n.240-8_240-4dup
NM_000019.3:c.1164-8_1164-4dup	NP_000010.1:n.1164-8_1164-4dup
XM_006718834.2:c.894-8_894-4dup	XP_006718897.1:n.894-8_894-4dup
XM_006718835.2:c.894-8_894-4dup	XP_006718898.1:n.894-8_894-4dup
XM_006718835.3:c.894-8_894-4dup	XP_006718898.1:n.894-8_894-4dup
XM_017017681.1:c.894-8_894-4dup	XP_016873170.1:n.894-8_894-4dup
XM_017017682.2:c.786-8_786-4dup	XP_016873171.1:n.786-8_786-4dup
XM_017017683.2:c.786-8_786-4dup	XP_016873172.1:n.786-8_786-4dup
XM_024448511.1:c.894-8_894-4dup	XP_024304279.1:n.894-8_894-4dup
XM_024448512.1:c.894-8_894-4dup	XP_024304280.1:n.894-8_894-4dup
XM_024448513.1:c.894-8_894-4dup	XP_024304281.1:n.894-8_894-4dup
XM_024448514.1:c.894-8_894-4dup	XP_024304282.1:n.894-8_894-4dup
XM_024448515.1:c.894-8_894-4dup	XP_024304283.1:n.894-8_894-4dup
NM_000019.4:c.1164-8_1164-4dup MANE Select	NP_000010.1:n.1164-8_1164-4dup
NM_001386677.1:c.1177_1181dup	NP_001373606.1:p.Phe394LeufsTer14
NM_001386678.1:c.849-8_849-4dup	NP_001373607.1:n.849-8_849-4dup
NM_001386679.1:c.867-8_867-4dup	NP_001373608.1:n.867-8_867-4dup
NM_001386681.1:c.894-8_894-4dup	NP_001373610.1:n.894-8_894-4dup
NM_001386682.1:c.894-8_894-4dup	NP_001373611.1:n.894-8_894-4dup
NM_001386685.1:c.894-8_894-4dup	NP_001373614.1:n.894-8_894-4dup
NM_001386686.1:c.894-8_894-4dup	NP_001373615.1:n.894-8_894-4dup
NM_001386687.1:c.894-8_894-4dup	NP_001373616.1:n.894-8_894-4dup
NM_001386688.1:c.894-8_894-4dup	NP_001373617.1:n.894-8_894-4dup
NM_001386689.1:c.894-8_894-4dup	NP_001373618.1:n.894-8_894-4dup
NM_001386690.1:c.894-8_894-4dup	NP_001373619.1:n.894-8_894-4dup
NM_001386691.1:c.894-8_894-4dup	NP_001373620.1:n.894-8_894-4dup
NR_170162.1:n.1139-8_1139-4dup
NR_170163.1:n.1197-8_1197-4dup