Canonical Allele Identifier: CA2343628641

Gene: NLRP11

Linked Data

• dbSNP Id: rs1980291218
• gnomAD v3: 19-55809000-T-TCCGGGTCACG
• gnomAD v4: 19-55809000-T-TCCGGGTCACG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55809001_55809010dup , CM000681.2:g.55809001_55809010dup	GRCh38
NC_000019.9:g.56320367_56320376dup , CM000681.1:g.56320367_56320376dup	GRCh37
NC_000019.8:g.61012179_61012188dup	NCBI36
NG_054722.1:g.32753_32762dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589093.6:c.1600_1609dup MANE Select	ENSP00000466285.1:p.Glu537AlafsTer2
ENST00000589093.5:c.1600_1609dup	ENSP00000466285.1:p.Glu537AlafsTer2
ENST00000589824.6:c.1600_1609dup	ENSP00000468082.1:p.Glu537AlafsTer2
ENST00000590409.5:c.1303_1312dup	ENSP00000466582.1:p.Glu438AlafsTer2
ENST00000592953.5:c.1303_1312dup	ENSP00000468196.1:p.Glu438AlafsTer2
ENST00000593244.5:c.1600_1609dup	ENSP00000467988.1:p.Glu537AlafsTer2
NM_001297743.1:c.1303_1312dup	NP_001284672.1:p.Glu438AlafsTer2
NM_145007.3:c.1600_1609dup	NP_659444.2:p.Glu537AlafsTer2
NM_001297743.3:c.1303_1312dup	NP_001284672.1:p.Glu438AlafsTer2
NM_001385451.2:c.1600_1609dup	NP_001372380.1:p.Glu537AlafsTer2
NM_001385453.2:c.1600_1609dup	NP_001372382.1:p.Glu537AlafsTer2
NM_145007.5:c.1600_1609dup	NP_659444.2:p.Glu537AlafsTer2
NR_169620.2:n.1791_1800dup
NR_169621.2:n.2124_2133dup
NR_169622.2:n.796-7271_796-7262dup
NM_001394894.2:c.1600_1609dup MANE Select	NP_001381823.1:p.Glu537AlafsTer2