Canonical Allele Identifier: CA2577744184

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928902del , CM000684.2:g.43928902del	GRCh38
NC_000022.10:g.44324782del , CM000684.1:g.44324782del	GRCh37
NC_000022.9:g.42656115del	NCBI36
NG_008631.1:g.10164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+13del MANE Select	ENSP00000216180.3:n.486+13del
ENST00000216180.7:c.486+13del	ENSP00000216180.3:n.486+13del
ENST00000406117.6:c.*118+13del	ENSP00000384668.2:n.*118+13del
ENST00000423180.2:c.474+13del	ENSP00000397987.2:n.474+13del
ENST00000478713.1:n.520+13del
NM_025225.2:c.486+13del	NP_079501.2:n.486+13del
NM_025225.3:c.486+13del MANE Select	NP_079501.2:n.486+13del