Canonical Allele Identifier: CA2577744189
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928927del , CM000684.2:g.43928927del GRCh38
NC_000022.10:g.44324807del , CM000684.1:g.44324807del GRCh37
NC_000022.9:g.42656140del NCBI36
NG_008631.1:g.10189del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+38del MANE Select ENSP00000216180.3:n.486+38del
ENST00000216180.7:c.486+38del ENSP00000216180.3:n.486+38del
ENST00000406117.6:c.*118+38del ENSP00000384668.2:n.*118+38del
ENST00000423180.2:c.474+38del ENSP00000397987.2:n.474+38del
ENST00000478713.1:n.520+38del
NM_025225.2:c.486+38del NP_079501.2:n.486+38del
NM_025225.3:c.486+38del MANE Select NP_079501.2:n.486+38del