Canonical Allele Identifier: CA2615845611

Gene: ACAT1

Linked Data

• gnomAD v4: 11-108147605-T-TTTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147607_108147610dup , CM000673.2:g.108147607_108147610dup	GRCh38
NC_000011.9:g.108018334_108018337dup , CM000673.1:g.108018334_108018337dup	GRCh37
NC_000011.8:g.107523544_107523547dup	NCBI36
NG_009888.1:g.31077_31080dup
NG_009888.2:g.35903_35906dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.8:c.*217_*220dup	ENSP00000265838.4:n.*217_*220dup
NM_000019.3:c.*217_*220dup	NP_000010.1:n.*217_*220dup
XM_006718834.2:c.*217_*220dup	XP_006718897.1:n.*217_*220dup
XM_006718835.2:c.*217_*220dup	XP_006718898.1:n.*217_*220dup
XM_017017682.2:c.*217_*220dup	XP_016873171.1:n.*217_*220dup
XM_017017683.2:c.*217_*220dup	XP_016873172.1:n.*217_*220dup