Canonical Allele Identifier: CA2657156650
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928724del , CM000684.2:g.43928724del GRCh38
NC_000022.10:g.44324604del , CM000684.1:g.44324604del GRCh37
NC_000022.9:g.42655937del NCBI36
NG_008631.1:g.9986del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-100del MANE Select ENSP00000216180.3:n.421-100del
ENST00000216180.7:c.421-100del ENSP00000216180.3:n.421-100del
ENST00000406117.6:c.*53-100del ENSP00000384668.2:n.*53-100del
ENST00000423180.2:c.409-100del ENSP00000397987.2:n.409-100del
ENST00000478713.1:n.455-100del
NM_025225.2:c.421-100del NP_079501.2:n.421-100del
NM_025225.3:c.421-100del MANE Select NP_079501.2:n.421-100del