Canonical Allele Identifier: CA2819114463

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43929149_43929150del , CM000684.2:g.43929149_43929150del	GRCh38
NC_000022.10:g.44325029_44325030del , CM000684.1:g.44325029_44325030del	GRCh37
NC_000022.9:g.42656362_42656363del	NCBI36
NG_008631.1:g.10411_10412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+260_486+261del MANE Select	ENSP00000216180.3:n.486+260_486+261del
ENST00000216180.7:c.486+260_486+261del	ENSP00000216180.3:n.486+260_486+261del
ENST00000406117.6:c.*118+260_*118+261del	ENSP00000384668.2:n.*118+260_*118+261del
ENST00000423180.2:c.474+260_474+261del	ENSP00000397987.2:n.474+260_474+261del
ENST00000478713.1:n.520+260_520+261del
NM_025225.2:c.486+260_486+261del	NP_079501.2:n.486+260_486+261del
NM_025225.3:c.486+260_486+261del MANE Select	NP_079501.2:n.486+260_486+261del