Canonical Allele Identifier: CA2657154840
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43946458-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946460del , CM000684.2:g.43946460del GRCh38
NC_000022.10:g.44342340del , CM000684.1:g.44342340del GRCh37
NC_000022.9:g.42673673del NCBI36
NG_008631.1:g.27722del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*78del MANE Select ENSP00000216180.3:n.*78del
ENST00000216180.7:c.*78del ENSP00000216180.3:n.*78del
ENST00000406117.6:c.*849+1665del ENSP00000384668.2:n.*849+1665del
ENST00000423180.2:c.*78del ENSP00000397987.2:n.*78del
NM_025225.2:c.*78del NP_079501.2:n.*78del
NM_025225.3:c.*78del MANE Select NP_079501.2:n.*78del
Search 100 bp 5'
Search 100 bp 3'