Canonical Allele Identifier: CA657949265

Gene: PNPLA3

Linked Data

• COSMIC: COSN20080134

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946481_43946482insC , CM000684.2:g.43946481_43946482insC	GRCh38
NC_000022.10:g.44342361_44342362insC , CM000684.1:g.44342361_44342362insC	GRCh37
NC_000022.9:g.42673694_42673695insC	NCBI36
NG_008631.1:g.27743_27744insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.*99_*100insC MANE Select	ENSP00000216180.3:n.*99_*100insC
ENST00000216180.7:c.*99_*100insC	ENSP00000216180.3:n.*99_*100insC
ENST00000406117.6:c.*849+1686_*849+1687insC	ENSP00000384668.2:n.*849+1686_*849+1687insC
ENST00000423180.2:c.*99_*100insC	ENSP00000397987.2:n.*99_*100insC
NM_025225.2:c.*99_*100insC	NP_079501.2:n.*99_*100insC
NM_025225.3:c.*99_*100insC MANE Select	NP_079501.2:n.*99_*100insC