Canonical Allele Identifier: CA2657156713
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928865del , CM000684.2:g.43928865del GRCh38
NC_000022.10:g.44324745del , CM000684.1:g.44324745del GRCh37
NC_000022.9:g.42656078del NCBI36
NG_008631.1:g.10127del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.462del MANE Select ENSP00000216180.3:p.Ile155SerfsTer15
ENST00000216180.7:c.462del ENSP00000216180.3:p.Ile155SerfsTer15
ENST00000406117.6:c.*94del ENSP00000384668.2:n.*94del
ENST00000423180.2:c.450del ENSP00000397987.2:p.Ile151SerfsTer15
ENST00000478713.1:n.496del
NM_025225.2:c.462del NP_079501.2:p.Ile155SerfsTer15
NM_025225.3:c.462del MANE Select NP_079501.2:p.Ile155SerfsTer15