Canonical Allele Identifier: CA671409538

Gene: ACAT1

Linked Data

• dbSNP Id: rs1365755376
• gnomAD v3: 11-108147245-GAAGT-G
• gnomAD v4: 11-108147245-GAAGT-G
• MyVariant Identifiers: chr11:g.108017973_108017976del (hg19) ; chr11:g.108147246_108147249del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147248_108147251del , CM000673.2:g.108147248_108147251del	GRCh38
NC_000011.9:g.108017975_108017978del , CM000673.1:g.108017975_108017978del	GRCh37
NC_000011.8:g.107523185_107523188del	NCBI36
NG_009888.1:g.30718_30721del
NG_009888.2:g.35544_35547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.1164-22_1164-19del MANE Select	ENSP00000265838.4:n.1164-22_1164-19del
ENST00000671707.1:n.1259-22_1259-19del
ENST00000672031.1:c.*151-22_*151-19del	ENSP00000500463.1:n.*151-22_*151-19del
ENST00000672284.1:c.894-22_894-19del	ENSP00000500444.1:n.894-22_894-19del
ENST00000672354.1:c.1164-1_1166del
ENST00000672367.1:c.801-22_801-19del	ENSP00000500209.1:n.801-22_801-19del
ENST00000672580.1:c.*419-22_*419-19del	ENSP00000500366.1:n.*419-22_*419-19del
ENST00000672907.1:c.849-22_849-19del	ENSP00000500928.1:n.849-22_849-19del
ENST00000673000.1:n.1252-22_1252-19del
ENST00000673531.1:c.894-22_894-19del	ENSP00000500163.1:n.894-22_894-19del
ENST00000265838.8:c.1164-22_1164-19del	ENSP00000265838.4:n.1164-22_1164-19del
ENST00000533597.1:n.240-22_240-19del
NM_000019.3:c.1164-22_1164-19del	NP_000010.1:n.1164-22_1164-19del
XM_006718834.2:c.894-22_894-19del	XP_006718897.1:n.894-22_894-19del
XM_006718835.2:c.894-22_894-19del	XP_006718898.1:n.894-22_894-19del
XM_006718835.3:c.894-22_894-19del	XP_006718898.1:n.894-22_894-19del
XM_017017681.1:c.894-22_894-19del	XP_016873170.1:n.894-22_894-19del
XM_017017682.2:c.786-22_786-19del	XP_016873171.1:n.786-22_786-19del
XM_017017683.2:c.786-22_786-19del	XP_016873172.1:n.786-22_786-19del
XM_024448511.1:c.894-22_894-19del	XP_024304279.1:n.894-22_894-19del
XM_024448512.1:c.894-22_894-19del	XP_024304280.1:n.894-22_894-19del
XM_024448513.1:c.894-22_894-19del	XP_024304281.1:n.894-22_894-19del
XM_024448514.1:c.894-22_894-19del	XP_024304282.1:n.894-22_894-19del
XM_024448515.1:c.894-22_894-19del	XP_024304283.1:n.894-22_894-19del
NM_000019.4:c.1164-22_1164-19del MANE Select	NP_000010.1:n.1164-22_1164-19del
NM_001386677.1:c.1164-1_1166del
NM_001386678.1:c.849-22_849-19del	NP_001373607.1:n.849-22_849-19del
NM_001386679.1:c.867-22_867-19del	NP_001373608.1:n.867-22_867-19del
NM_001386681.1:c.894-22_894-19del	NP_001373610.1:n.894-22_894-19del
NM_001386682.1:c.894-22_894-19del	NP_001373611.1:n.894-22_894-19del
NM_001386685.1:c.894-22_894-19del	NP_001373614.1:n.894-22_894-19del
NM_001386686.1:c.894-22_894-19del	NP_001373615.1:n.894-22_894-19del
NM_001386687.1:c.894-22_894-19del	NP_001373616.1:n.894-22_894-19del
NM_001386688.1:c.894-22_894-19del	NP_001373617.1:n.894-22_894-19del
NM_001386689.1:c.894-22_894-19del	NP_001373618.1:n.894-22_894-19del
NM_001386690.1:c.894-22_894-19del	NP_001373619.1:n.894-22_894-19del
NM_001386691.1:c.894-22_894-19del	NP_001373620.1:n.894-22_894-19del
NR_170162.1:n.1139-22_1139-19del
NR_170163.1:n.1197-22_1197-19del