Canonical Allele Identifier: CA233438
Gene: ACAT1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 166649
dbSNP Id: rs727503795

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108138906_108138907del , CM000673.2:g.108138906_108138907del GRCh38
NC_000011.8:g.107514843_107514844del NCBI36
NC_000011.9:g.108009633_108009634del , CM000673.1:g.108009633_108009634del GRCh37
NG_009888.1:g.22376_22377del

Transcript Alleles

HGVS Amino-acid change
ENST00000265838.8:c.444_445del ENSP00000265838.4:p.Met148IlefsTer28
ENST00000528370.1:n.250_251del
ENST00000531813.5:c.343_344del ENSP00000435965.1:p.Gly115TrpfsTer14
ENST00000534773.1:n.187_188del
NM_000019.3:c.444_445del NP_000010.1:p.Met148IlefsTer28
XM_006718834.2:c.174_175del XP_006718897.1:p.Met58IlefsTer28
XM_006718835.2:c.174_175del XP_006718898.1:p.Met58IlefsTer28