Canonical Allele Identifier: CA2407481398

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928725_43928727delinsCAA , CM000684.2:g.43928725_43928727delinsCAA	GRCh38
NC_000022.10:g.44324605_44324607delinsCAA , CM000684.1:g.44324605_44324607delinsCAA	GRCh37
NC_000022.9:g.42655938_42655940delinsCAA	NCBI36
NG_008631.1:g.9987_9989delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-99_421-97delinsCAA MANE Select	ENSP00000216180.3:n.421-99_421-97delinsCAA
ENST00000216180.7:c.421-99_421-97delinsCAA	ENSP00000216180.3:n.421-99_421-97delinsCAA
ENST00000406117.6:c.*53-99_*53-97delinsCAA	ENSP00000384668.2:n.*53-99_*53-97delinsCAA
ENST00000423180.2:c.409-99_409-97delinsCAA	ENSP00000397987.2:n.409-99_409-97delinsCAA
ENST00000478713.1:n.455-99_455-97delinsCAA
NM_025225.2:c.421-99_421-97delinsCAA	NP_079501.2:n.421-99_421-97delinsCAA
NM_025225.3:c.421-99_421-97delinsCAA MANE Select	NP_079501.2:n.421-99_421-97delinsCAA