Canonical Allele Identifier: CA1026100365

Gene: PNPLA3

Linked Data

• gnomAD v3: 22-43928728-G-GTTTTTTTTTTTTTCTTT
• gnomAD v4: 22-43928728-G-GTTTTTTTTTTTTTCTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928731_43928732insTTTTTTTTTTCTTTTTT , CM000684.2:g.43928731_43928732insTTTTTTTTTTCTTTTTT	GRCh38
NC_000022.10:g.44324611_44324612insTTTTTTTTTTCTTTTTT , CM000684.1:g.44324611_44324612insTTTTTTTTTTCTTTTTT	GRCh37
NC_000022.9:g.42655944_42655945insTTTTTTTTTTCTTTTTT	NCBI36
NG_008631.1:g.9993_9994insTTTTTTTTTTCTTTTTT

Transcript Alleles

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