Canonical Allele Identifier: CA657949266

Gene: PNPLA3

Linked Data

• COSMIC: COSN23435614

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946486_43946487insT , CM000684.2:g.43946486_43946487insT	GRCh38
NC_000022.10:g.44342366_44342367insT , CM000684.1:g.44342366_44342367insT	GRCh37
NC_000022.9:g.42673699_42673700insT	NCBI36
NG_008631.1:g.27748_27749insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.*104_*105insT MANE Select	ENSP00000216180.3:n.*104_*105insT
ENST00000216180.7:c.*104_*105insT	ENSP00000216180.3:n.*104_*105insT
ENST00000406117.6:c.*849+1691_*849+1692insT	ENSP00000384668.2:n.*849+1691_*849+1692insT
ENST00000423180.2:c.*104_*105insT	ENSP00000397987.2:n.*104_*105insT
NM_025225.2:c.*104_*105insT	NP_079501.2:n.*104_*105insT
NM_025225.3:c.*104_*105insT MANE Select	NP_079501.2:n.*104_*105insT