Canonical Allele Identifier: CA2657156712
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43928847-CCCCTTCTACAGTGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928850_43928863del , CM000684.2:g.43928850_43928863del GRCh38
NC_000022.10:g.44324730_44324743del , CM000684.1:g.44324730_44324743del GRCh37
NC_000022.9:g.42656063_42656076del NCBI36
NG_008631.1:g.10112_10125del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.447_460del MANE Select ENSP00000216180.3:p.Phe150TyrfsTer17
ENST00000216180.7:c.447_460del ENSP00000216180.3:p.Phe150TyrfsTer17
ENST00000406117.6:c.*79_*92del ENSP00000384668.2:n.*79_*92del
ENST00000423180.2:c.435_448del ENSP00000397987.2:p.Phe146TyrfsTer17
ENST00000478713.1:n.481_494del
NM_025225.2:c.447_460del NP_079501.2:p.Phe150TyrfsTer17
NM_025225.3:c.447_460del MANE Select NP_079501.2:p.Phe150TyrfsTer17
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Search 100 bp 3'