Canonical Allele Identifier: CA671409693

Gene: ACAT1

Linked Data

• dbSNP Id: rs1449454731
• MyVariant Identifiers: chr11:g.108018336_108018337insTACATTTTTGCAT (hg19) ; chr11:g.108147609_108147610insTACATTTTTGCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108147611_108147623dup , CM000673.2:g.108147611_108147623dup	GRCh38
NC_000011.9:g.108018338_108018350dup , CM000673.1:g.108018338_108018350dup	GRCh37
NC_000011.8:g.107523548_107523560dup	NCBI36
NG_009888.1:g.31081_31093dup
NG_009888.2:g.35907_35919dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265838.8:c.*221_*233dup	ENSP00000265838.4:n.*221_*233dup
NM_000019.3:c.*221_*233dup	NP_000010.1:n.*221_*233dup
XM_006718834.2:c.*221_*233dup	XP_006718897.1:n.*221_*233dup
XM_006718835.2:c.*221_*233dup	XP_006718898.1:n.*221_*233dup
XM_017017682.2:c.*221_*233dup	XP_016873171.1:n.*221_*233dup
XM_017017683.2:c.*221_*233dup	XP_016873172.1:n.*221_*233dup