Canonical Allele Identifier: CA1026100217
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v3: 22-43928663-TGTATGTTAGTTCCCCGTTCTTTTGACCCATGGATTAACCTACTCTG-T
gnomAD v4: 22-43928663-TGTATGTTAGTTCCCCGTTCTTTTGACCCATGGATTAACCTACTCTG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928664_43928709del , CM000684.2:g.43928664_43928709del GRCh38
NC_000022.10:g.44324544_44324589del , CM000684.1:g.44324544_44324589del GRCh37
NC_000022.9:g.42655877_42655922del NCBI36
NG_008631.1:g.9926_9971del

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.421-160_421-115del MANE Select ENSP00000216180.3:n.421-160_421-115del
ENST00000216180.7:c.421-160_421-115del ENSP00000216180.3:n.421-160_421-115del
ENST00000406117.6:c.*53-160_*53-115del ENSP00000384668.2:n.*53-160_*53-115del
ENST00000423180.2:c.409-160_409-115del ENSP00000397987.2:n.409-160_409-115del
ENST00000478713.1:n.455-160_455-115del
NM_025225.2:c.421-160_421-115del NP_079501.2:n.421-160_421-115del
NM_025225.3:c.421-160_421-115del MANE Select NP_079501.2:n.421-160_421-115del
Search 100 bp 5'
Search 100 bp 3'