Canonical Allele Identifier: CA2611770595

Gene: PNPLA2

Linked Data

• gnomAD v4: 11-821891-GGTGGGGGGGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.821897_821908del , CM000673.2:g.821897_821908del	GRCh38
NC_000011.9:g.821897_821908del , CM000673.1:g.821897_821908del	GRCh37
NC_000011.8:g.811897_811908del	NCBI36
NG_023394.1:g.7997_8008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.420+37_420+48del MANE Select	ENSP00000337701.4:n.420+37_420+48del
ENST00000336615.8:c.420+37_420+48del	ENSP00000337701.4:n.420+37_420+48del
ENST00000525250.5:n.1026+37_1026+48del
ENST00000534561.1:n.87+37_87+48del
ENST00000617551.1:c.-831+37_-831+48del	ENSP00000481602.1:n.-831+37_-831+48del
NM_020376.3:c.420+37_420+48del	NP_065109.1:n.420+37_420+48del
XM_006718265.2:c.420+37_420+48del	XP_006718328.1:n.420+37_420+48del
XM_006718266.2:c.420+37_420+48del	XP_006718329.1:n.420+37_420+48del
XM_006718265.3:c.420+37_420+48del	XP_006718328.1:n.420+37_420+48del
XM_006718266.3:c.420+37_420+48del	XP_006718329.1:n.420+37_420+48del
XM_017018028.1:c.420+37_420+48del	XP_016873517.1:n.420+37_420+48del
XM_024448618.1:c.420+37_420+48del	XP_024304386.1:n.420+37_420+48del
NM_020376.4:c.420+37_420+48del MANE Select	NP_065109.1:n.420+37_420+48del