Canonical Allele Identifier: CA2407481323

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928596_43928597delinsAG , CM000684.2:g.43928596_43928597delinsAG	GRCh38
NC_000022.10:g.44324476_44324477delinsAG , CM000684.1:g.44324476_44324477delinsAG	GRCh37
NC_000022.9:g.42655809_42655810delinsAG	NCBI36
NG_008631.1:g.9858_9859delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-228_421-227delinsAG MANE Select	ENSP00000216180.3:n.421-228_421-227delinsAG
ENST00000216180.7:c.421-228_421-227delinsAG	ENSP00000216180.3:n.421-228_421-227delinsAG
ENST00000406117.6:c.*53-228_*53-227delinsAG	ENSP00000384668.2:n.*53-228_*53-227delinsAG
ENST00000423180.2:c.409-228_409-227delinsAG	ENSP00000397987.2:n.409-228_409-227delinsAG
ENST00000478713.1:n.455-228_455-227delinsAG
NM_025225.2:c.421-228_421-227delinsAG	NP_079501.2:n.421-228_421-227delinsAG
NM_025225.3:c.421-228_421-227delinsAG MANE Select	NP_079501.2:n.421-228_421-227delinsAG