Canonical Allele Identifier: CA2838508180

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928699_43928700del , CM000684.2:g.43928699_43928700del	GRCh38
NC_000022.10:g.44324579_44324580del , CM000684.1:g.44324579_44324580del	GRCh37
NC_000022.9:g.42655912_42655913del	NCBI36
NG_008631.1:g.9961_9962del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-125_421-124del MANE Select	ENSP00000216180.3:n.421-125_421-124del
ENST00000216180.7:c.421-125_421-124del	ENSP00000216180.3:n.421-125_421-124del
ENST00000406117.6:c.*53-125_*53-124del	ENSP00000384668.2:n.*53-125_*53-124del
ENST00000423180.2:c.409-125_409-124del	ENSP00000397987.2:n.409-125_409-124del
ENST00000478713.1:n.455-125_455-124del
NM_025225.2:c.421-125_421-124del	NP_079501.2:n.421-125_421-124del
NM_025225.3:c.421-125_421-124del MANE Select	NP_079501.2:n.421-125_421-124del