Canonical Allele Identifier: CA1026100359
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2049941601
gnomAD v3: 22-43928728-G-GTTTT
gnomAD v4: 22-43928728-G-GTTTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928731_43928732insTTTT , CM000684.2:g.43928731_43928732insTTTT GRCh38
NC_000022.10:g.44324611_44324612insTTTT , CM000684.1:g.44324611_44324612insTTTT GRCh37
NC_000022.9:g.42655944_42655945insTTTT NCBI36
NG_008631.1:g.9993_9994insTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-93_421-92insTTTT MANE Select ENSP00000216180.3:n.421-93_421-92insTTTT
ENST00000216180.7:c.421-93_421-92insTTTT ENSP00000216180.3:n.421-93_421-92insTTTT
ENST00000406117.6:c.*53-93_*53-92insTTTT ENSP00000384668.2:n.*53-93_*53-92insTTTT
ENST00000423180.2:c.409-93_409-92insTTTT ENSP00000397987.2:n.409-93_409-92insTTTT
ENST00000478713.1:n.455-93_455-92insTTTT
NM_025225.2:c.421-93_421-92insTTTT NP_079501.2:n.421-93_421-92insTTTT
NM_025225.3:c.421-93_421-92insTTTT MANE Select NP_079501.2:n.421-93_421-92insTTTT
Search 100 bp 5'
Search 100 bp 3'