Canonical Allele Identifier: CA2790141755

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.822305_822314del , CM000673.2:g.822305_822314del	GRCh38
NC_000011.9:g.822305_822314del , CM000673.1:g.822305_822314del	GRCh37
NC_000011.8:g.812305_812314del	NCBI36
NG_023394.1:g.8405_8414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.487-92_487-83del MANE Select	ENSP00000337701.4:n.487-92_487-83del
ENST00000336615.8:c.487-92_487-83del	ENSP00000337701.4:n.487-92_487-83del
ENST00000525250.5:n.1093-92_1093-83del
ENST00000531923.1:n.290_299del
ENST00000617551.1:c.-764-92_-764-83del	ENSP00000481602.1:n.-764-92_-764-83del
NM_020376.3:c.487-92_487-83del	NP_065109.1:n.487-92_487-83del
XM_006718265.2:c.487-92_487-83del	XP_006718328.1:n.487-92_487-83del
XM_006718266.2:c.487-92_487-83del	XP_006718329.1:n.487-92_487-83del
XM_006718265.3:c.487-92_487-83del	XP_006718328.1:n.487-92_487-83del
XM_006718266.3:c.487-92_487-83del	XP_006718329.1:n.487-92_487-83del
XM_017018028.1:c.487-92_487-83del	XP_016873517.1:n.487-92_487-83del
XM_024448618.1:c.487-92_487-83del	XP_024304386.1:n.487-92_487-83del
NM_020376.4:c.487-92_487-83del MANE Select	NP_065109.1:n.487-92_487-83del