Canonical Allele Identifier: CA2657156710
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43928845-AT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928846del , CM000684.2:g.43928846del GRCh38
NC_000022.10:g.44324726del , CM000684.1:g.44324726del GRCh37
NC_000022.9:g.42656059del NCBI36
NG_008631.1:g.10108del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.443del MANE Select ENSP00000216180.3:p.Ile148ThrfsTer22
ENST00000216180.7:c.443del ENSP00000216180.3:p.Ile148ThrfsTer22
ENST00000406117.6:c.*75del ENSP00000384668.2:n.*75del
ENST00000423180.2:c.431del ENSP00000397987.2:p.Ile144ThrfsTer22
ENST00000478713.1:n.477del
NM_025225.2:c.443del NP_079501.2:p.Ile148ThrfsTer22
NM_025225.3:c.443del MANE Select NP_079501.2:p.Ile148ThrfsTer22
Search 100 bp 5'
Search 100 bp 3'