Canonical Allele Identifier: CA1026100215

Gene: PNPLA3

Linked Data

• dbSNP Id: rs2049940993
• gnomAD v3: 22-43928660-GGGT-G
• gnomAD v4: 22-43928660-GGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928662_43928664del , CM000684.2:g.43928662_43928664del	GRCh38
NC_000022.10:g.44324542_44324544del , CM000684.1:g.44324542_44324544del	GRCh37
NC_000022.9:g.42655875_42655877del	NCBI36
NG_008631.1:g.9924_9926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.421-162_421-160del MANE Select	ENSP00000216180.3:n.421-162_421-160del
ENST00000216180.7:c.421-162_421-160del	ENSP00000216180.3:n.421-162_421-160del
ENST00000406117.6:c.*53-162_*53-160del	ENSP00000384668.2:n.*53-162_*53-160del
ENST00000423180.2:c.409-162_409-160del	ENSP00000397987.2:n.409-162_409-160del
ENST00000478713.1:n.455-162_455-160del
NM_025225.2:c.421-162_421-160del	NP_079501.2:n.421-162_421-160del
NM_025225.3:c.421-162_421-160del MANE Select	NP_079501.2:n.421-162_421-160del