Canonical Allele Identifier: CA1026100279
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v3: 22-43928719-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG
gnomAD v4: 22-43928719-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928719_43928720insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG , CM000684.2:g.43928719_43928720insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG GRCh38
NC_000022.10:g.44324599_44324600insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG , CM000684.1:g.44324599_44324600insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG GRCh37
NC_000022.9:g.42655932_42655933insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG NCBI36
NG_008631.1:g.9981_9982insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.421-105_421-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG MANE Select ENSP00000216180.3:n.421-105_421-104insTTT...
ENST00000216180.7:c.421-105_421-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG ENSP00000216180.3:n.421-105_421-104insTTT...
ENST00000406117.6:c.*53-105_*53-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG ENSP00000384668.2:n.*53-105_*53-104insTTT...
ENST00000423180.2:c.409-105_409-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG ENSP00000397987.2:n.409-105_409-104insTTT...
ENST00000478713.1:n.455-105_455-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG
NM_025225.2:c.421-105_421-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG NP_079501.2:n.421-105_421-104insTTTTTTTTT...
NM_025225.3:c.421-105_421-104insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTG MANE Select NP_079501.2:n.421-105_421-104insTTTTTTTTT...
Search 100 bp 5'
Search 100 bp 3'