Canonical Allele Identifier: CA2819114450

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928768_43928769del , CM000684.2:g.43928768_43928769del	GRCh38
NC_000022.10:g.44324648_44324649del , CM000684.1:g.44324648_44324649del	GRCh37
NC_000022.9:g.42655981_42655982del	NCBI36
NG_008631.1:g.10030_10031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-56_421-55del MANE Select	ENSP00000216180.3:n.421-56_421-55del
ENST00000216180.7:c.421-56_421-55del	ENSP00000216180.3:n.421-56_421-55del
ENST00000406117.6:c.*53-56_*53-55del	ENSP00000384668.2:n.*53-56_*53-55del
ENST00000423180.2:c.409-56_409-55del	ENSP00000397987.2:n.409-56_409-55del
ENST00000478713.1:n.455-56_455-55del
NM_025225.2:c.421-56_421-55del	NP_079501.2:n.421-56_421-55del
NM_025225.3:c.421-56_421-55del MANE Select	NP_079501.2:n.421-56_421-55del