Canonical Allele Identifier: CA657949263

Gene: PNPLA3

Linked Data

• COSMIC: COSN24292758

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946456_43946457insT , CM000684.2:g.43946456_43946457insT	GRCh38
NC_000022.10:g.44342336_44342337insT , CM000684.1:g.44342336_44342337insT	GRCh37
NC_000022.9:g.42673669_42673670insT	NCBI36
NG_008631.1:g.27718_27719insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.*74_*75insT MANE Select	ENSP00000216180.3:n.*74_*75insT
ENST00000216180.7:c.*74_*75insT	ENSP00000216180.3:n.*74_*75insT
ENST00000406117.6:c.*849+1661_*849+1662insT	ENSP00000384668.2:n.*849+1661_*849+1662insT
ENST00000423180.2:c.*74_*75insT	ENSP00000397987.2:n.*74_*75insT
NM_025225.2:c.*74_*75insT	NP_079501.2:n.*74_*75insT
NM_025225.3:c.*74_*75insT MANE Select	NP_079501.2:n.*74_*75insT