Canonical Allele Identifier: CA1026100542
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2049944825
gnomAD v3: 22-43929089-GTAAT-G
gnomAD v4: 22-43929089-GTAAT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929096_43929099del , CM000684.2:g.43929096_43929099del GRCh38
NC_000022.10:g.44324976_44324979del , CM000684.1:g.44324976_44324979del GRCh37
NC_000022.9:g.42656309_42656312del NCBI36
NG_008631.1:g.10358_10361del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+207_486+210del MANE Select ENSP00000216180.3:n.486+207_486+210del
ENST00000216180.7:c.486+207_486+210del ENSP00000216180.3:n.486+207_486+210del
ENST00000406117.6:c.*118+207_*118+210del ENSP00000384668.2:n.*118+207_*118+210del
ENST00000423180.2:c.474+207_474+210del ENSP00000397987.2:n.474+207_474+210del
ENST00000478713.1:n.520+207_520+210del
NM_025225.2:c.486+207_486+210del NP_079501.2:n.486+207_486+210del
NM_025225.3:c.486+207_486+210del MANE Select NP_079501.2:n.486+207_486+210del
Search 100 bp 5'
Search 100 bp 3'