Canonical Allele Identifier: CA2407489765

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946462_43946483delinsCTGTGTAGTGACCCCTGCCTGT , CM000684.2:g.43946462_43946483delinsCTGTGTAGTGACCCCTGCCTGT	GRCh38
NC_000022.10:g.44342342_44342363delinsCTGTGTAGTGACCCCTGCCTGT , CM000684.1:g.44342342_44342363delinsCTGTGTAGTGACCCCTGCCTGT	GRCh37
NC_000022.9:g.42673675_42673696delinsCTGTGTAGTGACCCCTGCCTGT	NCBI36
NG_008631.1:g.27724_27745delinsCTGTGTAGTGACCCCTGCCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.*80_*101delinsCTGTGTAGTGACCCCTGCCTGT MANE Select	ENSP00000216180.3:n.*80_*101delinsCTGTGTAGTGACCCCTGCCTGT
ENST00000216180.7:c.*80_*101delinsCTGTGTAGTGACCCCTGCCTGT	ENSP00000216180.3:n.*80_*101delinsCTGTGTAGTGACCCCTGCCTGT
ENST00000406117.6:c.*849+1667_*849+1688delinsCTGTGTAGTGACCCCTGCCTGT	ENSP00000384668.2:n.*849+1667_*849+1688delinsCTGTGTAGTGACCCCT...
ENST00000423180.2:c.*80_*101delinsCTGTGTAGTGACCCCTGCCTGT	ENSP00000397987.2:n.*80_*101delinsCTGTGTAGTGACCCCTGCCTGT
NM_025225.2:c.*80_*101delinsCTGTGTAGTGACCCCTGCCTGT	NP_079501.2:n.*80_*101delinsCTGTGTAGTGACCCCTGCCTGT
NM_025225.3:c.*80_*101delinsCTGTGTAGTGACCCCTGCCTGT MANE Select	NP_079501.2:n.*80_*101delinsCTGTGTAGTGACCCCTGCCTGT