Canonical Allele Identifier: CA2407481318

Gene: PNPLA3

Linked Data

• dbSNP Id: rs2049940449

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928594_43928599del , CM000684.2:g.43928594_43928599del	GRCh38
NC_000022.10:g.44324474_44324479del , CM000684.1:g.44324474_44324479del	GRCh37
NC_000022.9:g.42655807_42655812del	NCBI36
NG_008631.1:g.9856_9861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-230_421-225del MANE Select	ENSP00000216180.3:n.421-230_421-225del
ENST00000216180.7:c.421-230_421-225del	ENSP00000216180.3:n.421-230_421-225del
ENST00000406117.6:c.*53-230_*53-225del	ENSP00000384668.2:n.*53-230_*53-225del
ENST00000423180.2:c.409-230_409-225del	ENSP00000397987.2:n.409-230_409-225del
ENST00000478713.1:n.455-230_455-225del
NM_025225.2:c.421-230_421-225del	NP_079501.2:n.421-230_421-225del
NM_025225.3:c.421-230_421-225del MANE Select	NP_079501.2:n.421-230_421-225del