Canonical Allele Identifier: CA2407481365

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928660_43928663delinsGGGT , CM000684.2:g.43928660_43928663delinsGGGT	GRCh38
NC_000022.10:g.44324540_44324543delinsGGGT , CM000684.1:g.44324540_44324543delinsGGGT	GRCh37
NC_000022.9:g.42655873_42655876delinsGGGT	NCBI36
NG_008631.1:g.9922_9925delinsGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-164_421-161delinsGGGT MANE Select	ENSP00000216180.3:n.421-164_421-161delinsGGGT
ENST00000216180.7:c.421-164_421-161delinsGGGT	ENSP00000216180.3:n.421-164_421-161delinsGGGT
ENST00000406117.6:c.*53-164_*53-161delinsGGGT	ENSP00000384668.2:n.*53-164_*53-161delinsGGGT
ENST00000423180.2:c.409-164_409-161delinsGGGT	ENSP00000397987.2:n.409-164_409-161delinsGGGT
ENST00000478713.1:n.455-164_455-161delinsGGGT
NM_025225.2:c.421-164_421-161delinsGGGT	NP_079501.2:n.421-164_421-161delinsGGGT
NM_025225.3:c.421-164_421-161delinsGGGT MANE Select	NP_079501.2:n.421-164_421-161delinsGGGT