Canonical Allele Identifier: CA753430199
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1413220603
gnomAD v3: 22-43930057-CG-C
gnomAD v4: 22-43930057-CG-C
MyVariant Identifiers: chr22:g.44325938del (hg19) chr22:g.43930058del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43930059del , CM000684.2:g.43930059del GRCh38
NC_000022.10:g.44325939del , CM000684.1:g.44325939del GRCh37
NC_000022.9:g.42657272del NCBI36
NG_008631.1:g.11321del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+1170del MANE Select ENSP00000216180.3:n.486+1170del
ENST00000216180.7:c.486+1170del ENSP00000216180.3:n.486+1170del
ENST00000406117.6:c.*118+1170del ENSP00000384668.2:n.*118+1170del
ENST00000423180.2:c.474+1170del ENSP00000397987.2:n.474+1170del
ENST00000478713.1:n.520+1170del
NM_025225.2:c.486+1170del NP_079501.2:n.486+1170del
NM_025225.3:c.486+1170del MANE Select NP_079501.2:n.486+1170del
Search 100 bp 5'
Search 100 bp 3'