Canonical Allele Identifier: CA2657156622
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43928694-GGATT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928695_43928698del , CM000684.2:g.43928695_43928698del GRCh38
NC_000022.10:g.44324575_44324578del , CM000684.1:g.44324575_44324578del GRCh37
NC_000022.9:g.42655908_42655911del NCBI36
NG_008631.1:g.9957_9960del

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.421-129_421-126del MANE Select ENSP00000216180.3:n.421-129_421-126del
ENST00000216180.7:c.421-129_421-126del ENSP00000216180.3:n.421-129_421-126del
ENST00000406117.6:c.*53-129_*53-126del ENSP00000384668.2:n.*53-129_*53-126del
ENST00000423180.2:c.409-129_409-126del ENSP00000397987.2:n.409-129_409-126del
ENST00000478713.1:n.455-129_455-126del
NM_025225.2:c.421-129_421-126del NP_079501.2:n.421-129_421-126del
NM_025225.3:c.421-129_421-126del MANE Select NP_079501.2:n.421-129_421-126del
Search 100 bp 5'
Search 100 bp 3'