Canonical Allele Identifier: CA2407481623
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2049945428

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43929187_43929188del , CM000684.2:g.43929187_43929188del GRCh38
NC_000022.10:g.44325067_44325068del , CM000684.1:g.44325067_44325068del GRCh37
NC_000022.9:g.42656400_42656401del NCBI36
NG_008631.1:g.10449_10450del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.486+298_486+299del MANE Select ENSP00000216180.3:n.486+298_486+299del
ENST00000216180.7:c.486+298_486+299del ENSP00000216180.3:n.486+298_486+299del
ENST00000406117.6:c.*118+298_*118+299del ENSP00000384668.2:n.*118+298_*118+299del
ENST00000423180.2:c.474+298_474+299del ENSP00000397987.2:n.474+298_474+299del
ENST00000478713.1:n.520+298_520+299del
NM_025225.2:c.486+298_486+299del NP_079501.2:n.486+298_486+299del
NM_025225.3:c.486+298_486+299del MANE Select NP_079501.2:n.486+298_486+299del