Canonical Allele Identifier: CA2819114458

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43929075_43929076del , CM000684.2:g.43929075_43929076del	GRCh38
NC_000022.10:g.44324955_44324956del , CM000684.1:g.44324955_44324956del	GRCh37
NC_000022.9:g.42656288_42656289del	NCBI36
NG_008631.1:g.10337_10338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+186_486+187del MANE Select	ENSP00000216180.3:n.486+186_486+187del
ENST00000216180.7:c.486+186_486+187del	ENSP00000216180.3:n.486+186_486+187del
ENST00000406117.6:c.*118+186_*118+187del	ENSP00000384668.2:n.*118+186_*118+187del
ENST00000423180.2:c.474+186_474+187del	ENSP00000397987.2:n.474+186_474+187del
ENST00000478713.1:n.520+186_520+187del
NM_025225.2:c.486+186_486+187del	NP_079501.2:n.486+186_486+187del
NM_025225.3:c.486+186_486+187del MANE Select	NP_079501.2:n.486+186_486+187del