Canonical Allele Identifier: CA2587377243

Gene: NLRP11

Linked Data

• gnomAD v4: 19-55809093-ATCTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55809097_55809100del , CM000681.2:g.55809097_55809100del	GRCh38
NC_000019.9:g.56320463_56320466del , CM000681.1:g.56320463_56320466del	GRCh37
NC_000019.8:g.61012275_61012278del	NCBI36
NG_054722.1:g.32666_32669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589093.6:c.1513_1516del MANE Select	ENSP00000466285.1:p.Lys505PhefsTer13
ENST00000589093.5:c.1513_1516del	ENSP00000466285.1:p.Lys505PhefsTer13
ENST00000589824.6:c.1513_1516del	ENSP00000468082.1:p.Lys505PhefsTer13
ENST00000590409.5:c.1216_1219del	ENSP00000466582.1:p.Lys406PhefsTer13
ENST00000592953.5:c.1216_1219del	ENSP00000468196.1:p.Lys406PhefsTer13
ENST00000593244.5:c.1513_1516del	ENSP00000467988.1:p.Lys505PhefsTer13
NM_001297743.1:c.1216_1219del	NP_001284672.1:p.Lys406PhefsTer13
NM_145007.3:c.1513_1516del	NP_659444.2:p.Lys505PhefsTer13
NM_001297743.3:c.1216_1219del	NP_001284672.1:p.Lys406PhefsTer13
NM_001385451.2:c.1513_1516del	NP_001372380.1:p.Lys505PhefsTer13
NM_001385453.2:c.1513_1516del	NP_001372382.1:p.Lys505PhefsTer13
NM_145007.5:c.1513_1516del	NP_659444.2:p.Lys505PhefsTer13
NR_169620.2:n.1704_1707del
NR_169621.2:n.2037_2040del
NR_169622.2:n.796-7358_796-7355del
NM_001394894.2:c.1513_1516del MANE Select	NP_001381823.1:p.Lys505PhefsTer13