Canonical Allele Identifier: CA639583183
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1287402416
gnomAD v2: 22-44324661-AG-A
gnomAD v4: 22-43928781-AG-A
MyVariant Identifiers: chr22:g.44324662del (hg19) chr22:g.43928782del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928784del , CM000684.2:g.43928784del GRCh38
NC_000022.10:g.44324664del , CM000684.1:g.44324664del GRCh37
NC_000022.9:g.42655997del NCBI36
NG_008631.1:g.10046del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-40del MANE Select ENSP00000216180.3:n.421-40del
ENST00000216180.7:c.421-40del ENSP00000216180.3:n.421-40del
ENST00000406117.6:c.*53-40del ENSP00000384668.2:n.*53-40del
ENST00000423180.2:c.409-40del ENSP00000397987.2:n.409-40del
ENST00000478713.1:n.455-40del
NM_025225.2:c.421-40del NP_079501.2:n.421-40del
NM_025225.3:c.421-40del MANE Select NP_079501.2:n.421-40del
Search 100 bp 5'
Search 100 bp 3'