Canonical Allele Identifier: CA9681903

Gene: NLRP11

Linked Data

• dbSNP Id: rs780397026
• ExAC: 19:56320340 ACAAAGGCATATGGTGCGTCAACTTTTCCGGGT / A
• gnomAD v2: 19-56320340-ACAAAGGCATATGGTGCGTCAACTTTTCCGGGT-A
• gnomAD v3: 19-55808974-ACAAAGGCATATGGTGCGTCAACTTTTCCGGGT-A
• gnomAD v4: 19-55808974-ACAAAGGCATATGGTGCGTCAACTTTTCCGGGT-A
• MyVariant Identifiers: chr19:g.56320341_56320372del (hg19) ; chr19:g.55808975_55809006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55808977_55809008del , CM000681.2:g.55808977_55809008del	GRCh38
NC_000019.9:g.56320343_56320374del , CM000681.1:g.56320343_56320374del	GRCh37
NC_000019.8:g.61012155_61012186del	NCBI36
NG_054722.1:g.32757_32788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589093.6:c.1604_1635del MANE Select	ENSP00000466285.1:p.Asp535ValfsTer6
ENST00000589093.5:c.1604_1635del	ENSP00000466285.1:p.Asp535ValfsTer6
ENST00000589824.6:c.1604_1635del	ENSP00000468082.1:p.Asp535ValfsTer6
ENST00000590409.5:c.1307_1338del	ENSP00000466582.1:p.Asp436ValfsTer6
ENST00000592953.5:c.1307_1338del	ENSP00000468196.1:p.Asp436ValfsTer6
ENST00000593244.5:c.1604_1635del	ENSP00000467988.1:p.Asp535ValfsTer6
NM_001297743.1:c.1307_1338del	NP_001284672.1:p.Asp436ValfsTer6
NM_145007.3:c.1604_1635del	NP_659444.2:p.Asp535ValfsTer6
NM_001297743.3:c.1307_1338del	NP_001284672.1:p.Asp436ValfsTer6
NM_001385451.2:c.1604_1635del	NP_001372380.1:p.Asp535ValfsTer6
NM_001385453.2:c.1604_1635del	NP_001372382.1:p.Asp535ValfsTer6
NM_145007.5:c.1604_1635del	NP_659444.2:p.Asp535ValfsTer6
NR_169620.2:n.1795_1826del
NR_169621.2:n.2128_2159del
NR_169622.2:n.796-7267_796-7236del
NM_001394894.2:c.1604_1635del MANE Select	NP_001381823.1:p.Asp535ValfsTer6