Canonical Allele Identifier: CA2657156715
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43928885-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928886del , CM000684.2:g.43928886del GRCh38
NC_000022.10:g.44324766del , CM000684.1:g.44324766del GRCh37
NC_000022.9:g.42656099del NCBI36
NG_008631.1:g.10148del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.483del MANE Select ENSP00000216180.3:p.Val162CysfsTer8
ENST00000216180.7:c.483del ENSP00000216180.3:p.Val162CysfsTer8
ENST00000406117.6:c.*115del ENSP00000384668.2:n.*115del
ENST00000423180.2:c.471del ENSP00000397987.2:p.Val158CysfsTer8
ENST00000478713.1:n.517del
NM_025225.2:c.483del NP_079501.2:p.Val162CysfsTer8
NM_025225.3:c.483del MANE Select NP_079501.2:p.Val162CysfsTer8
Search 100 bp 5'
Search 100 bp 3'