Canonical Allele Identifier: CA2657154878

Gene: PNPLA3

Linked Data

• gnomAD v4: 22-43946495-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946498del , CM000684.2:g.43946498del	GRCh38
NC_000022.10:g.44342378del , CM000684.1:g.44342378del	GRCh37
NC_000022.9:g.42673711del	NCBI36
NG_008631.1:g.27760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.*116del MANE Select	ENSP00000216180.3:n.*116del
ENST00000216180.7:c.*116del	ENSP00000216180.3:n.*116del
ENST00000406117.6:c.*849+1703del	ENSP00000384668.2:n.*849+1703del
ENST00000423180.2:c.*116del	ENSP00000397987.2:n.*116del
NM_025225.2:c.*116del	NP_079501.2:n.*116del
NM_025225.3:c.*116del MANE Select	NP_079501.2:n.*116del