Canonical Allele Identifier: CA2657156682

Gene: PNPLA3

Linked Data

• gnomAD v4: 22-43928767-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928768del , CM000684.2:g.43928768del	GRCh38
NC_000022.10:g.44324648del , CM000684.1:g.44324648del	GRCh37
NC_000022.9:g.42655981del	NCBI36
NG_008631.1:g.10030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-56del MANE Select	ENSP00000216180.3:n.421-56del
ENST00000216180.7:c.421-56del	ENSP00000216180.3:n.421-56del
ENST00000406117.6:c.*53-56del	ENSP00000384668.2:n.*53-56del
ENST00000423180.2:c.409-56del	ENSP00000397987.2:n.409-56del
ENST00000478713.1:n.455-56del
NM_025225.2:c.421-56del	NP_079501.2:n.421-56del
NM_025225.3:c.421-56del MANE Select	NP_079501.2:n.421-56del