Canonical Allele Identifier: CA942016213

Gene: ACAT1

Linked Data

• gnomAD v3: 11-108143933-AGT-A
• gnomAD v4: 11-108143933-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108143934_108143935del , CM000673.2:g.108143934_108143935del	GRCh38
NC_000011.9:g.108014661_108014662del , CM000673.1:g.108014661_108014662del	GRCh37
NC_000011.8:g.107519871_107519872del	NCBI36
NG_009888.1:g.27404_27405del
NG_009888.2:g.32230_32231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.941-49_941-48del MANE Select	ENSP00000265838.4:n.941-49_941-48del
ENST00000671707.1:n.1036-49_1036-48del
ENST00000672031.1:c.940+1384_940+1385del	ENSP00000500463.1:n.940+1384_940+1385del
ENST00000672284.1:c.671-49_671-48del	ENSP00000500444.1:n.671-49_671-48del
ENST00000672354.1:c.941-49_941-48del	ENSP00000500490.1:n.941-49_941-48del
ENST00000672367.1:c.578-49_578-48del	ENSP00000500209.1:n.578-49_578-48del
ENST00000672580.1:c.*196-49_*196-48del	ENSP00000500366.1:n.*196-49_*196-48del
ENST00000672907.1:c.626-49_626-48del	ENSP00000500928.1:n.626-49_626-48del
ENST00000673000.1:n.1029-49_1029-48del
ENST00000673531.1:c.671-49_671-48del	ENSP00000500163.1:n.671-49_671-48del
ENST00000265838.8:c.941-49_941-48del	ENSP00000265838.4:n.941-49_941-48del
ENST00000531813.5:c.*1797_*1798del	ENSP00000435965.1:n.*1797_*1798del
ENST00000532792.5:n.436-49_436-48del
ENST00000533610.1:n.402-49_402-48del
NM_000019.3:c.941-49_941-48del	NP_000010.1:n.941-49_941-48del
XM_006718834.2:c.671-49_671-48del	XP_006718897.1:n.671-49_671-48del
XM_006718835.2:c.671-49_671-48del	XP_006718898.1:n.671-49_671-48del
XM_006718835.3:c.671-49_671-48del	XP_006718898.1:n.671-49_671-48del
XM_017017681.1:c.671-49_671-48del	XP_016873170.1:n.671-49_671-48del
XM_017017682.2:c.563-49_563-48del	XP_016873171.1:n.563-49_563-48del
XM_017017683.2:c.563-49_563-48del	XP_016873172.1:n.563-49_563-48del
XM_024448511.1:c.671-49_671-48del	XP_024304279.1:n.671-49_671-48del
XM_024448512.1:c.671-49_671-48del	XP_024304280.1:n.671-49_671-48del
XM_024448513.1:c.671-49_671-48del	XP_024304281.1:n.671-49_671-48del
XM_024448514.1:c.671-49_671-48del	XP_024304282.1:n.671-49_671-48del
XM_024448515.1:c.671-49_671-48del	XP_024304283.1:n.671-49_671-48del
NM_000019.4:c.941-49_941-48del MANE Select	NP_000010.1:n.941-49_941-48del
NM_001386677.1:c.941-49_941-48del	NP_001373606.1:n.941-49_941-48del
NM_001386678.1:c.626-49_626-48del	NP_001373607.1:n.626-49_626-48del
NM_001386679.1:c.644-49_644-48del	NP_001373608.1:n.644-49_644-48del
NM_001386681.1:c.671-49_671-48del	NP_001373610.1:n.671-49_671-48del
NM_001386682.1:c.671-49_671-48del	NP_001373611.1:n.671-49_671-48del
NM_001386685.1:c.671-49_671-48del	NP_001373614.1:n.671-49_671-48del
NM_001386686.1:c.671-49_671-48del	NP_001373615.1:n.671-49_671-48del
NM_001386687.1:c.671-49_671-48del	NP_001373616.1:n.671-49_671-48del
NM_001386688.1:c.671-49_671-48del	NP_001373617.1:n.671-49_671-48del
NM_001386689.1:c.671-49_671-48del	NP_001373618.1:n.671-49_671-48del
NM_001386690.1:c.671-49_671-48del	NP_001373619.1:n.671-49_671-48del
NM_001386691.1:c.671-49_671-48del	NP_001373620.1:n.671-49_671-48del
NR_170162.1:n.980+1384_980+1385del
NR_170163.1:n.974-49_974-48del