Canonical Allele Identifier: CA2587377241

Gene: NLRP11

Linked Data

• gnomAD v4: 19-55809043-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55809044_55809045del , CM000681.2:g.55809044_55809045del	GRCh38
NC_000019.9:g.56320410_56320411del , CM000681.1:g.56320410_56320411del	GRCh37
NC_000019.8:g.61012222_61012223del	NCBI36
NG_054722.1:g.32718_32719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589093.6:c.1565_1566del MANE Select	ENSP00000466285.1:p.Lys522MetfsTer13
ENST00000589093.5:c.1565_1566del	ENSP00000466285.1:p.Lys522MetfsTer13
ENST00000589824.6:c.1565_1566del	ENSP00000468082.1:p.Lys522MetfsTer13
ENST00000590409.5:c.1268_1269del	ENSP00000466582.1:p.Lys423MetfsTer13
ENST00000592953.5:c.1268_1269del	ENSP00000468196.1:p.Lys423MetfsTer13
ENST00000593244.5:c.1565_1566del	ENSP00000467988.1:p.Lys522MetfsTer13
NM_001297743.1:c.1268_1269del	NP_001284672.1:p.Lys423MetfsTer13
NM_145007.3:c.1565_1566del	NP_659444.2:p.Lys522MetfsTer13
NM_001297743.3:c.1268_1269del	NP_001284672.1:p.Lys423MetfsTer13
NM_001385451.2:c.1565_1566del	NP_001372380.1:p.Lys522MetfsTer13
NM_001385453.2:c.1565_1566del	NP_001372382.1:p.Lys522MetfsTer13
NM_145007.5:c.1565_1566del	NP_659444.2:p.Lys522MetfsTer13
NR_169620.2:n.1756_1757del
NR_169621.2:n.2089_2090del
NR_169622.2:n.796-7306_796-7305del
NM_001394894.2:c.1565_1566del MANE Select	NP_001381823.1:p.Lys522MetfsTer13