Canonical Allele Identifier: CA2657154871
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946490del , CM000684.2:g.43946490del GRCh38
NC_000022.10:g.44342370del , CM000684.1:g.44342370del GRCh37
NC_000022.9:g.42673703del NCBI36
NG_008631.1:g.27752del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*108del MANE Select ENSP00000216180.3:n.*108del
ENST00000216180.7:c.*108del ENSP00000216180.3:n.*108del
ENST00000406117.6:c.*849+1695del ENSP00000384668.2:n.*849+1695del
ENST00000423180.2:c.*108del ENSP00000397987.2:n.*108del
NM_025225.2:c.*108del NP_079501.2:n.*108del
NM_025225.3:c.*108del MANE Select NP_079501.2:n.*108del