Canonical Allele Identifier: CA2611770968

Gene: PNPLA2

Linked Data

• gnomAD v4: 11-821990-CTGTGGGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.821991_821998del , CM000673.2:g.821991_821998del	GRCh38
NC_000011.9:g.821991_821998del , CM000673.1:g.821991_821998del	GRCh37
NC_000011.8:g.811991_811998del	NCBI36
NG_023394.1:g.8091_8098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.454_461del MANE Select	ENSP00000337701.4:p.Cys152HisfsTer23
ENST00000336615.8:c.454_461del	ENSP00000337701.4:p.Cys152HisfsTer23
ENST00000525250.5:n.1060_1067del
ENST00000534561.1:n.121_128del
ENST00000617551.1:c.-797_-790del	ENSP00000481602.1:n.-797_-790del
NM_020376.3:c.454_461del	NP_065109.1:p.Cys152HisfsTer23
XM_006718265.2:c.454_461del	XP_006718328.1:p.Cys152HisfsTer23
XM_006718266.2:c.454_461del	XP_006718329.1:p.Cys152HisfsTer23
XM_006718265.3:c.454_461del	XP_006718328.1:p.Cys152HisfsTer23
XM_006718266.3:c.454_461del	XP_006718329.1:p.Cys152HisfsTer23
XM_017018028.1:c.454_461del	XP_016873517.1:p.Cys152HisfsTer23
XM_024448618.1:c.454_461del	XP_024304386.1:p.Cys152HisfsTer23
NM_020376.4:c.454_461del MANE Select	NP_065109.1:p.Cys152HisfsTer23