Canonical Allele Identifier: CA2573880163

Gene: PNPLA2

Linked Data

• gnomAD v4: 11-821861-GTGGGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.821865_821871del , CM000673.2:g.821865_821871del	GRCh38
NC_000011.9:g.821865_821871del , CM000673.1:g.821865_821871del	GRCh37
NC_000011.8:g.811865_811871del	NCBI36
NG_023394.1:g.7965_7971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.420+5_420+11del MANE Select	ENSP00000337701.4:n.420+5_420+11del
ENST00000336615.8:c.420+5_420+11del	ENSP00000337701.4:n.420+5_420+11del
ENST00000525250.5:n.1026+5_1026+11del
ENST00000534561.1:n.87+5_87+11del
ENST00000617551.1:c.-831+5_-831+11del	ENSP00000481602.1:n.-831+5_-831+11del
NM_020376.3:c.420+5_420+11del	NP_065109.1:n.420+5_420+11del
XM_006718265.2:c.420+5_420+11del	XP_006718328.1:n.420+5_420+11del
XM_006718266.2:c.420+5_420+11del	XP_006718329.1:n.420+5_420+11del
XM_006718265.3:c.420+5_420+11del	XP_006718328.1:n.420+5_420+11del
XM_006718266.3:c.420+5_420+11del	XP_006718329.1:n.420+5_420+11del
XM_017018028.1:c.420+5_420+11del	XP_016873517.1:n.420+5_420+11del
XM_024448618.1:c.420+5_420+11del	XP_024304386.1:n.420+5_420+11del
NM_020376.4:c.420+5_420+11del MANE Select	NP_065109.1:n.420+5_420+11del