Canonical Allele Identifier: CA2657156665
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928744_43928746del , CM000684.2:g.43928744_43928746del GRCh38
NC_000022.10:g.44324624_44324626del , CM000684.1:g.44324624_44324626del GRCh37
NC_000022.9:g.42655957_42655959del NCBI36
NG_008631.1:g.10006_10008del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-80_421-78del MANE Select ENSP00000216180.3:n.421-80_421-78del
ENST00000216180.7:c.421-80_421-78del ENSP00000216180.3:n.421-80_421-78del
ENST00000406117.6:c.*53-80_*53-78del ENSP00000384668.2:n.*53-80_*53-78del
ENST00000423180.2:c.409-80_409-78del ENSP00000397987.2:n.409-80_409-78del
ENST00000478713.1:n.455-80_455-78del
NM_025225.2:c.421-80_421-78del NP_079501.2:n.421-80_421-78del
NM_025225.3:c.421-80_421-78del MANE Select NP_079501.2:n.421-80_421-78del