Canonical Allele Identifier: CA1998720942

Gene: ACAT1

Linked Data

• dbSNP Id: rs2077734153
• gnomAD v4: 11-108147207-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147209_108147210del , CM000673.2:g.108147209_108147210del	GRCh38
NC_000011.9:g.108017936_108017937del , CM000673.1:g.108017936_108017937del	GRCh37
NC_000011.8:g.107523146_107523147del	NCBI36
NG_009888.1:g.30679_30680del
NG_009888.2:g.35505_35506del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265838.9:c.1164-61_1164-60del MANE Select	ENSP00000265838.4:n.1164-61_1164-60del
ENST00000671707.1:n.1259-61_1259-60del
ENST00000672031.1:c.*151-61_*151-60del	ENSP00000500463.1:n.*151-61_*151-60del
ENST00000672284.1:c.894-61_894-60del	ENSP00000500444.1:n.894-61_894-60del
ENST00000672354.1:c.1164-40_1164-39del	ENSP00000500490.1:n.1164-40_1164-39del
ENST00000672367.1:c.801-61_801-60del	ENSP00000500209.1:n.801-61_801-60del
ENST00000672580.1:c.*419-61_*419-60del	ENSP00000500366.1:n.*419-61_*419-60del
ENST00000672907.1:c.849-61_849-60del	ENSP00000500928.1:n.849-61_849-60del
ENST00000673000.1:n.1252-61_1252-60del
ENST00000673531.1:c.894-61_894-60del	ENSP00000500163.1:n.894-61_894-60del
ENST00000265838.8:c.1164-61_1164-60del	ENSP00000265838.4:n.1164-61_1164-60del
ENST00000533597.1:n.240-61_240-60del
NM_000019.3:c.1164-61_1164-60del	NP_000010.1:n.1164-61_1164-60del
XM_006718834.2:c.894-61_894-60del	XP_006718897.1:n.894-61_894-60del
XM_006718835.2:c.894-61_894-60del	XP_006718898.1:n.894-61_894-60del
XM_006718835.3:c.894-61_894-60del	XP_006718898.1:n.894-61_894-60del
XM_017017681.1:c.894-61_894-60del	XP_016873170.1:n.894-61_894-60del
XM_017017682.2:c.786-61_786-60del	XP_016873171.1:n.786-61_786-60del
XM_017017683.2:c.786-61_786-60del	XP_016873172.1:n.786-61_786-60del
XM_024448511.1:c.894-61_894-60del	XP_024304279.1:n.894-61_894-60del
XM_024448512.1:c.894-61_894-60del	XP_024304280.1:n.894-61_894-60del
XM_024448513.1:c.894-61_894-60del	XP_024304281.1:n.894-61_894-60del
XM_024448514.1:c.894-61_894-60del	XP_024304282.1:n.894-61_894-60del
XM_024448515.1:c.894-61_894-60del	XP_024304283.1:n.894-61_894-60del
NM_000019.4:c.1164-61_1164-60del MANE Select	NP_000010.1:n.1164-61_1164-60del
NM_001386677.1:c.1164-40_1164-39del	NP_001373606.1:n.1164-40_1164-39del
NM_001386678.1:c.849-61_849-60del	NP_001373607.1:n.849-61_849-60del
NM_001386679.1:c.867-61_867-60del	NP_001373608.1:n.867-61_867-60del
NM_001386681.1:c.894-61_894-60del	NP_001373610.1:n.894-61_894-60del
NM_001386682.1:c.894-61_894-60del	NP_001373611.1:n.894-61_894-60del
NM_001386685.1:c.894-61_894-60del	NP_001373614.1:n.894-61_894-60del
NM_001386686.1:c.894-61_894-60del	NP_001373615.1:n.894-61_894-60del
NM_001386687.1:c.894-61_894-60del	NP_001373616.1:n.894-61_894-60del
NM_001386688.1:c.894-61_894-60del	NP_001373617.1:n.894-61_894-60del
NM_001386689.1:c.894-61_894-60del	NP_001373618.1:n.894-61_894-60del
NM_001386690.1:c.894-61_894-60del	NP_001373619.1:n.894-61_894-60del
NM_001386691.1:c.894-61_894-60del	NP_001373620.1:n.894-61_894-60del
NR_170162.1:n.1139-61_1139-60del
NR_170163.1:n.1197-61_1197-60del