Canonical Allele Identifier: CA2657156714
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43928866-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928867del , CM000684.2:g.43928867del GRCh38
NC_000022.10:g.44324747del , CM000684.1:g.44324747del GRCh37
NC_000022.9:g.42656080del NCBI36
NG_008631.1:g.10129del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.464del MANE Select ENSP00000216180.3:p.Ile155ThrfsTer15
ENST00000216180.7:c.464del ENSP00000216180.3:p.Ile155ThrfsTer15
ENST00000406117.6:c.*96del ENSP00000384668.2:n.*96del
ENST00000423180.2:c.452del ENSP00000397987.2:p.Ile151ThrfsTer15
ENST00000478713.1:n.498del
NM_025225.2:c.464del NP_079501.2:p.Ile155ThrfsTer15
NM_025225.3:c.464del MANE Select NP_079501.2:p.Ile155ThrfsTer15
Search 100 bp 5'
Search 100 bp 3'