Canonical Allele Identifier: CA228359468

Gene: ACAT1

Linked Data

• dbSNP Id: rs745386184
• gnomAD v2: 11-108018256-AATG-A
• gnomAD v3: 11-108147529-AATG-A
• gnomAD v4: 11-108147529-AATG-A
• MyVariant Identifiers: chr11:g.108018257_108018259del (hg19) ; chr11:g.108147530_108147532del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147534_108147536del , CM000673.2:g.108147534_108147536del	GRCh38
NC_000011.9:g.108018261_108018263del , CM000673.1:g.108018261_108018263del	GRCh37
NC_000011.8:g.107523471_107523473del	NCBI36
NG_009888.1:g.31004_31006del
NG_009888.2:g.35830_35832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.9:c.*144_*146del MANE Select	ENSP00000265838.4:n.*144_*146del
ENST00000672284.1:c.*144_*146del	ENSP00000500444.1:n.*144_*146del
ENST00000672367.1:c.*144_*146del	ENSP00000500209.1:n.*144_*146del
ENST00000672580.1:c.*683_*685del	ENSP00000500366.1:n.*683_*685del
ENST00000672907.1:c.*144_*146del	ENSP00000500928.1:n.*144_*146del
ENST00000265838.8:c.*144_*146del	ENSP00000265838.4:n.*144_*146del
ENST00000533597.1:n.504_506del
NM_000019.3:c.*144_*146del	NP_000010.1:n.*144_*146del
XM_006718834.2:c.*144_*146del	XP_006718897.1:n.*144_*146del
XM_006718835.2:c.*144_*146del	XP_006718898.1:n.*144_*146del
XM_006718835.3:c.*144_*146del	XP_006718898.1:n.*144_*146del
XM_017017681.1:c.*144_*146del	XP_016873170.1:n.*144_*146del
XM_017017682.2:c.*144_*146del	XP_016873171.1:n.*144_*146del
XM_017017683.2:c.*144_*146del	XP_016873172.1:n.*144_*146del
XM_024448511.1:c.*144_*146del	XP_024304279.1:n.*144_*146del
XM_024448512.1:c.*144_*146del	XP_024304280.1:n.*144_*146del
XM_024448513.1:c.*144_*146del	XP_024304281.1:n.*144_*146del
XM_024448514.1:c.*144_*146del	XP_024304282.1:n.*144_*146del
XM_024448515.1:c.*144_*146del	XP_024304283.1:n.*144_*146del
NM_000019.4:c.*144_*146del MANE Select	NP_000010.1:n.*144_*146del
NM_001386677.1:c.*144_*146del	NP_001373606.1:n.*144_*146del
NM_001386678.1:c.*144_*146del	NP_001373607.1:n.*144_*146del
NM_001386679.1:c.*144_*146del	NP_001373608.1:n.*144_*146del
NM_001386681.1:c.*144_*146del	NP_001373610.1:n.*144_*146del
NM_001386682.1:c.*144_*146del	NP_001373611.1:n.*144_*146del
NM_001386685.1:c.*144_*146del	NP_001373614.1:n.*144_*146del
NM_001386686.1:c.*144_*146del	NP_001373615.1:n.*144_*146del
NM_001386687.1:c.*144_*146del	NP_001373616.1:n.*144_*146del
NM_001386688.1:c.*144_*146del	NP_001373617.1:n.*144_*146del
NM_001386689.1:c.*144_*146del	NP_001373618.1:n.*144_*146del
NM_001386690.1:c.*144_*146del	NP_001373619.1:n.*144_*146del
NM_001386691.1:c.*144_*146del	NP_001373620.1:n.*144_*146del
NR_170162.1:n.1403_1405del
NR_170163.1:n.1461_1463del