{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA171025", "communityStandardTitle": [ "NM_001556.3(IKBKB):c.814C>T (p.Arg272Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=167509[alleleid]", "alleleId": 167509, "preferredName": "NM_001556.3(IKBKB):c.814C>T (p.Arg272Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/157663", "RCV": [ "RCV000144958" ], "variationId": 157663 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.42173741C>T?assembly=hg19", "id": "chr8:g.42173741C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.42316223C>T?assembly=hg38", "id": "chr8:g.42316223C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/200296680", "rs": 200296680 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 42316223, "referenceAllele": "C", "start": 42316222 } ], "hgvs": [ "NC_000008.11:g.42316223C>T", "CM000670.2:g.42316223C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 42173741, "referenceAllele": "C", "start": 42173740 } ], "hgvs": [ "NC_000008.10:g.42173741C>T", "CM000670.1:g.42173741C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000032" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 42292898, "referenceAllele": "C", "start": 42292897 } ], "hgvs": [ "NC_000008.9:g.42292898C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 49922, "referenceAllele": "C", "start": 49921 } ], "hgvs": [ "NG_041793.1:g.49922C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005864" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 477, "referenceAllele": "C", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000416505.7:c.477C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS754655" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000520810.6:c.814C>T" ], "proteinEffect": { "hgvs": "ENSP00000430684.1:p.Arg272Ter", "hgvsWellDefined": "ENSP00000430684.1:p.Arg272_Ser756delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrAlaLeuAspTrpSerTrpLeuGlnThrGluGluGluGluHisSerCysLeuGluGlnAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758704", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000520810.6:c.814C>T" }, "RefSeq": { "hgvs": "NM_001556.3:c.814C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000430684.1:p.Arg272Ter" }, "RefSeq": { "hgvs": "NP_001547.1:p.Arg272Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 861, "referenceAllele": "C", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000520835.7:c.622C>T" ], "proteinEffect": { "hgvs": "ENSP00000430868.2:p.Arg208Ter", "hgvsWellDefined": "ENSP00000430868.2:p.Arg208_Ser692delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrAlaLeuAspTrpSerTrpLeuGlnThrGluGluGluGluHisSerCysLeuGluGlnAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758706" }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000629753.2:c.*628C>T" ], "proteinEffect": { "hgvs": "ENSP00000486961.2:n.*628C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS762527" }, { "coordinates": [ { "allele": "T", "end": 578, "referenceAllele": "C", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000648136.2:n.578C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769809" }, { "coordinates": [ { "allele": "T", "end": 578, "referenceAllele": "C", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000649612.3:c.578C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS770633" }, { "coordinates": [ { "allele": "T", "end": 416, "referenceAllele": "C", "start": 415 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000676525.1:c.416C>T" ], "proteinEffect": { "hgvs": "ENSP00000503997.1:n.416C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS776204" }, { "coordinates": [ { "allele": "T", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000342222.6:c.*375C>T" ], "proteinEffect": { "hgvs": "ENSP00000339151.2:n.*375C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS261508" }, { "coordinates": [ { "allele": "T", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000416505.5:c.637C>T" ], "proteinEffect": { "hgvs": "ENSP00000404920.2:p.Arg213Ter", "hgvsWellDefined": "ENSP00000404920.2:p.Arg213_Ser697delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrAlaLeuAspTrpSerTrpLeuGlnThrGluGluGluGluHisSerCysLeuGluGlnAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS284486" }, { "coordinates": [ { "allele": "T", "end": 891, "referenceAllele": "C", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000517890.5:c.*572C>T" ], "proteinEffect": { "hgvs": "ENSP00000428799.1:n.*572C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS345467" }, { "coordinates": [ { "allele": "T", "end": 700, "referenceAllele": "C", "start": 699 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000517917.5:n.700C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS345486" }, { "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "C", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000518647.5:n.912C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS346050" }, { "coordinates": [ { "allele": "T", "end": 396, "referenceAllele": "C", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000518679.5:c.*95C>T" ], "proteinEffect": { "hgvs": "ENSP00000430557.1:n.*95C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS346076" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000520201.5:n.818C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS347289" }, { "coordinates": [ { "allele": "T", "end": 1452, "referenceAllele": "C", "start": 1451 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000520655.5:c.814C>T" ], "proteinEffect": { "hgvs": "ENSP00000428922.1:p.Arg272Ter", "hgvsWellDefined": "ENSP00000428922.1:p.Arg272_Asn562delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleArgGluArgSerGluThrProGlyArgThrAspAspGlySerAlaAspArgHisCysGlyLeuThrGluGluProHisGlyProGluAlaGlyGlyAsnAlaGlyArgProArgGlyAlaSerLysGlyAlaValGlnGluThrLysGlyLysThrSerArgProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS347649" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000520810.5:c.814C>T" ], "proteinEffect": { "hgvs": "ENSP00000430684.1:p.Arg272Ter", "hgvsWellDefined": "ENSP00000430684.1:p.Arg272_Ser756delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrAlaLeuAspTrpSerTrpLeuGlnThrGluGluGluGluHisSerCysLeuGluGlnAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS347778" }, { "coordinates": [ { "allele": "T", "end": 861, "referenceAllele": "C", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000520835.5:c.808C>T" ], "proteinEffect": { "hgvs": "ENSP00000430868.1:p.Arg270Ter", "hgvsWellDefined": "ENSP00000430868.1:p.Arg270_Ser754delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrAlaLeuAspTrpSerTrpLeuGlnThrGluGluGluGluHisSerCysLeuGluGlnAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS347795" }, { "coordinates": [ { "allele": "T", "end": 866, "referenceAllele": "C", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000521661.5:c.814C>T" ], "proteinEffect": { "hgvs": "ENSP00000428186.1:p.Arg272Ter", "hgvsWellDefined": "ENSP00000428186.1:p.Arg272_Asn562delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleArgGluArgSerGluThrProGlyArgThrAspAspGlySerAlaAspArgHisCysGlyLeuThrGluGluProHisGlyProGluAlaGlyGlyAsnAlaGlyArgProArgGlyAlaSerLysGlyAlaValGlnGluThrLysGlyLysThrSerArgProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS348436" }, { "coordinates": [ { "allele": "T", "end": 123, "endIntronDirection": "-", "endIntronOffset": 14983, "referenceAllele": "C", "start": 123, "startIntronDirection": "-", "startIntronOffset": 14984 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000522147.4:c.106-14984C>T" ], "proteinEffect": { "hgvs": "ENSP00000428892.1:n.106-14984C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS348822" }, { "coordinates": [ { "allele": "T", "end": 419, "referenceAllele": "C", "start": 418 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000522545.1:n.419C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS349143" }, { "coordinates": [ { "allele": "T", "end": 889, "referenceAllele": "C", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000523105.5:c.*572C>T" ], "proteinEffect": { "hgvs": "ENSP00000429239.1:n.*572C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS349563" }, { "coordinates": [ { "allele": "T", "end": 832, "referenceAllele": "C", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000523517.5:c.814C>T" ], "proteinEffect": { "hgvs": "ENSP00000430114.1:p.Arg272Ter", "hgvsWellDefined": "ENSP00000430114.1:p.Arg272_Lys375delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS349882" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "ENST00000629753.1:c.814C>T" ], "proteinEffect": { "hgvs": "ENSP00000486961.1:p.Arg272Ter", "hgvsWellDefined": "ENSP00000486961.1:p.Arg272_Asn562delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleArgGluArgSerGluThrProGlyArgThrAspAspGlySerAlaAspArgHisCysGlyLeuThrGluGluProHisGlyProGluAlaGlyGlyAsnAlaGlyArgProArgGlyAlaSerLysGlyAlaValGlnGluThrLysGlyLysThrSerArgProAlaAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407269" }, { "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "NM_001190720.2:c.808C>T" ], "proteinEffect": { "hgvs": "NP_001177649.1:p.Arg270Ter", "hgvsWellDefined": "NP_001177649.1:p.Arg270_Ser754delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrAlaLeuAspTrpSerTrpLeuGlnThrGluGluGluGluHisSerCysLeuGluGlnAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016208" }, { "@id": "http://reg.genome.network/allele/PA2826303759", "coordinates": [ { "allele": "T", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "NM_001242778.1:c.637C>T" ], "proteinEffect": { "hgvs": "NP_001229707.1:p.Arg213Ter", "hgvsWellDefined": "NP_001229707.1:p.Arg213_Ser697delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrAlaLeuAspTrpSerTrpLeuGlnThrGluGluGluGluHisSerCysLeuGluGlnAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018235" }, { "@id": "http://reg.genome.network/allele/PA171026", "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "NM_001556.2:c.814C>T" ], "proteinEffect": { "hgvs": "NP_001547.1:p.Arg272Ter", "hgvsWellDefined": "NP_001547.1:p.Arg272_Ser756delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrAlaLeuAspTrpSerTrpLeuGlnThrGluGluGluGluHisSerCysLeuGluGlnAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026925" }, { "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "NR_033818.1:n.1056C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS049145" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "NR_033819.1:n.1000C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS049146" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "NR_040009.1:n.1000C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS051083" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273490.1:c.814C>T" ], "proteinEffect": { "hgvs": "XP_005273547.1:p.Arg272Ter", "hgvsWellDefined": "XP_005273547.1:p.Arg272_Lys805delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067618" }, { "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273491.3:c.637C>T" ], "proteinEffect": { "hgvs": "XP_005273548.1:p.Arg213Ter", "hgvsWellDefined": "XP_005273548.1:p.Arg213_Lys746delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067619" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273492.2:c.814C>T" ], "proteinEffect": { "hgvs": "XP_005273549.1:p.Arg272Ter", "hgvsWellDefined": "XP_005273549.1:p.Arg272_Pro706delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067620" }, { "coordinates": [ { "allele": "T", "end": 696, "referenceAllele": "C", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273493.2:c.499C>T" ], "proteinEffect": { "hgvs": "XP_005273550.1:p.Arg167Ter", "hgvsWellDefined": "XP_005273550.1:p.Arg167_Lys700delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067621" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273494.1:c.814C>T" ], "proteinEffect": { "hgvs": "XP_005273551.1:p.Arg272Ter", "hgvsWellDefined": "XP_005273551.1:p.Arg272_Pro674delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysProGlyHisArgGlyCysLysProGlnGluPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067622" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273495.1:c.184C>T" ], "proteinEffect": { "hgvs": "XP_005273552.1:p.Arg62Ter", "hgvsWellDefined": "XP_005273552.1:p.Arg62_Lys595delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067623" }, { "coordinates": [ { "allele": "T", "end": 761, "referenceAllele": "C", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273496.2:c.184C>T" ], "proteinEffect": { "hgvs": "XP_005273553.1:p.Arg62Ter", "hgvsWellDefined": "XP_005273553.1:p.Arg62_Lys595delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067624" }, { "coordinates": [ { "allele": "T", "end": 570, "referenceAllele": "C", "start": 569 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273498.2:c.184C>T" ], "proteinEffect": { "hgvs": "XP_005273555.1:p.Arg62Ter", "hgvsWellDefined": "XP_005273555.1:p.Arg62_Lys595delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067625" }, { "coordinates": [ { "allele": "T", "end": 998, "referenceAllele": "C", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_011544517.1:c.814C>T" ], "proteinEffect": { "hgvs": "XP_011542819.1:p.Arg272Ter", "hgvsWellDefined": "XP_011542819.1:p.Arg272_Lys805delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111428" }, { "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_011544518.1:c.664C>T" ], "proteinEffect": { "hgvs": "XP_011542820.1:p.Arg222Ter", "hgvsWellDefined": "XP_011542820.1:p.Arg222_Lys755delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111429" }, { "coordinates": [ { "allele": "T", "end": 868, "referenceAllele": "C", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_011544519.1:c.637C>T" ], "proteinEffect": { "hgvs": "XP_011542821.1:p.Arg213Ter", "hgvsWellDefined": "XP_011542821.1:p.Arg213_Lys746delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111430" }, { "coordinates": [ { "allele": "T", "end": 715, "referenceAllele": "C", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_011544520.1:c.559C>T" ], "proteinEffect": { "hgvs": "XP_011542822.1:p.Arg187Ter", "hgvsWellDefined": "XP_011542822.1:p.Arg187_Lys720delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111431" }, { "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_011544521.1:c.184C>T" ], "proteinEffect": { "hgvs": "XP_011542823.1:p.Arg62Ter", "hgvsWellDefined": "XP_011542823.1:p.Arg62_Lys595delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS111432" }, { "coordinates": [ { "allele": "T", "end": 676, "referenceAllele": "C", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_011544522.1:c.-24C>T" ], "proteinEffect": { "hgvs": "XP_011542824.1:n.-24C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS111433" }, { "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XR_949402.1:n.900C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS142972" }, { "@id": "http://reg.genome.network/allele/PA171026", "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "NM_001556.3:c.814C>T" ], "proteinEffect": { "hgvs": "NP_001547.1:p.Arg272Ter", "hgvsWellDefined": "NP_001547.1:p.Arg272_Ser756delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrAlaLeuAspTrpSerTrpLeuGlnThrGluGluGluGluHisSerCysLeuGluGlnAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524885", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000520810.6:c.814C>T" }, "RefSeq": { "hgvs": "NM_001556.3:c.814C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000430684.1:p.Arg272Ter" }, "RefSeq": { "hgvs": "NP_001547.1:p.Arg272Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 998, "referenceAllele": "C", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273490.3:c.814C>T" ], "proteinEffect": { "hgvs": "XP_005273547.1:p.Arg272Ter", "hgvsWellDefined": "XP_005273547.1:p.Arg272_Lys805delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537457" }, { "coordinates": [ { "allele": "T", "end": 1480, "referenceAllele": "C", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273491.5:c.637C>T" ], "proteinEffect": { "hgvs": "XP_005273548.1:p.Arg213Ter", "hgvsWellDefined": "XP_005273548.1:p.Arg213_Lys746delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537458" }, { "coordinates": [ { "allele": "T", "end": 998, "referenceAllele": "C", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273492.4:c.814C>T" ], "proteinEffect": { "hgvs": "XP_005273549.1:p.Arg272Ter", "hgvsWellDefined": "XP_005273549.1:p.Arg272_Pro706delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537459" }, { "coordinates": [ { "allele": "T", "end": 1292, "referenceAllele": "C", "start": 1291 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273493.4:c.499C>T" ], "proteinEffect": { "hgvs": "XP_005273550.1:p.Arg167Ter", "hgvsWellDefined": "XP_005273550.1:p.Arg167_Lys700delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537460" }, { "coordinates": [ { "allele": "T", "end": 998, "referenceAllele": "C", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273494.3:c.814C>T" ], "proteinEffect": { "hgvs": "XP_005273551.1:p.Arg272Ter", "hgvsWellDefined": "XP_005273551.1:p.Arg272_Pro674delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysProGlyHisArgGlyCysLysProGlnGluPheProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537461" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273495.2:c.184C>T" ], "proteinEffect": { "hgvs": "XP_005273552.1:p.Arg62Ter", "hgvsWellDefined": "XP_005273552.1:p.Arg62_Lys595delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537462" }, { "coordinates": [ { "allele": "T", "end": 1355, "referenceAllele": "C", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273496.4:c.184C>T" ], "proteinEffect": { "hgvs": "XP_005273553.1:p.Arg62Ter", "hgvsWellDefined": "XP_005273553.1:p.Arg62_Lys595delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537463" }, { "coordinates": [ { "allele": "T", "end": 1167, "referenceAllele": "C", "start": 1166 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_005273498.4:c.184C>T" ], "proteinEffect": { "hgvs": "XP_005273555.1:p.Arg62Ter", "hgvsWellDefined": "XP_005273555.1:p.Arg62_Lys595delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537464" }, { "coordinates": [ { "allele": "T", "end": 998, "referenceAllele": "C", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_011544517.2:c.814C>T" ], "proteinEffect": { "hgvs": "XP_011542819.1:p.Arg272Ter", "hgvsWellDefined": "XP_011542819.1:p.Arg272_Lys805delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555703" }, { "coordinates": [ { "allele": "T", "end": 850, "referenceAllele": "C", "start": 849 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_011544518.2:c.664C>T" ], "proteinEffect": { "hgvs": "XP_011542820.1:p.Arg222Ter", "hgvsWellDefined": "XP_011542820.1:p.Arg222_Lys755delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555704" }, { "coordinates": [ { "allele": "T", "end": 868, "referenceAllele": "C", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_011544519.2:c.637C>T" ], "proteinEffect": { "hgvs": "XP_011542821.1:p.Arg213Ter", "hgvsWellDefined": "XP_011542821.1:p.Arg213_Lys746delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555705" }, { "coordinates": [ { "allele": "T", "end": 715, "referenceAllele": "C", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_011544520.2:c.559C>T" ], "proteinEffect": { "hgvs": "XP_011542822.1:p.Arg187Ter", "hgvsWellDefined": "XP_011542822.1:p.Arg187_Lys720delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555706" }, { "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_011544521.2:c.184C>T" ], "proteinEffect": { "hgvs": "XP_011542823.1:p.Arg62Ter", "hgvsWellDefined": "XP_011542823.1:p.Arg62_Lys595delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrValThrAlaCysValArgLeuLeuArgPheHisValLeuSerPheTyrGlyLysIleGluGluLysMetGluMetGlnSerGlyIleIleLeuAsnLeuSerValCysLeuPheAlaCysLeuPheValThrGlySerLeuSerLeuThrGlnAlaGlyValGlnTrpHisAspLeuGlySerLeuGlnProProLeuProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555707" }, { "coordinates": [ { "allele": "T", "end": 676, "referenceAllele": "C", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_011544522.2:c.-24C>T" ], "proteinEffect": { "hgvs": "XP_011542824.1:n.-24C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS555708" }, { "coordinates": [ { "allele": "T", "end": 953, "referenceAllele": "C", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XM_017013396.1:c.-24C>T" ], "proteinEffect": { "hgvs": "XP_016868885.1:n.-24C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS566714" }, { "coordinates": [ { "allele": "T", "end": 998, "referenceAllele": "C", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XR_001745530.2:n.998C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS594039" }, { "coordinates": [ { "allele": "T", "end": 1480, "referenceAllele": "C", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "XR_949402.3:n.1480C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS615312" }, { "@id": "http://reg.genome.network/allele/PA2826303759", "coordinates": [ { "allele": "T", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "NM_001242778.2:c.637C>T" ], "proteinEffect": { "hgvs": "NP_001229707.1:p.Arg213Ter", "hgvsWellDefined": "NP_001229707.1:p.Arg213_Ser697delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrAlaLeuAspTrpSerTrpLeuGlnThrGluGluGluGluHisSerCysLeuGluGlnAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680117" }, { "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "NR_033818.2:n.1056C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702174" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "NR_033819.2:n.1000C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702175" }, { "coordinates": [ { "allele": "T", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "NR_040009.2:n.1000C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702321" }, { "@id": "http://reg.genome.network/allele/PA2826163134", "coordinates": [ { "allele": "T", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN005960", "geneNCBI_id": 3551, "geneSymbol": "IKBKB", "hgvs": [ "NM_001190720.3:c.622C>T" ], "proteinEffect": { "hgvs": "NP_001177649.2:p.Arg208Ter", "hgvsWellDefined": "NP_001177649.2:p.Arg208_Ser692delinsLeuGluLysTrpLeuGlnLeuMetLeuMetTrpHisProArgGlnArgGlyThrAspProThrTyrGlyProAsnGlyCysPheLysAlaLeuAspAspIleLeuAsnLeuLysLeuValHisIleLeuAsnMetValThrGlyThrIleHisThrTyrProValThrGluAspGluSerLeuGlnSerLeuLysAlaArgIleGlnGlnAspThrGlyIleProGluGluAspGlnGluLeuLeuGlnGluAlaGlyLeuAlaLeuIleProAspLysProAlaThrGlnCysIleSerAspGlyLysLeuAsnGluGlyHisThrLeuAspMetAspLeuValPheLeuPheAspAsnSerLysIleThrTyrGluThrGlnIleSerProArgProGlnProGluSerValSerCysIleLeuGlnGluProLysArgAsnLeuAlaPhePheGlnLeuArgLysValTrpGlyGlnValTrpHisSerIleGlnThrLeuLysGluAspCysAsnArgLeuGlnGlnGlyGlnArgAlaAlaMetMetAsnLeuLeuArgAsnAsnSerCysLeuSerLysMetLysAsnSerMetAlaSerMetSerGlnGlnLeuLysAlaLysLeuAspPhePheLysThrSerIleGlnIleAspLeuGluLysTyrSerGluGlnThrGluPheGlyIleThrSerAspLysLeuLeuLeuAlaTrpArgGluMetGluGlnAlaValGluLeuCysGlyArgGluAsnGluValLysLeuLeuValGluArgMetMetAlaLeuGlnThrAspIleValAspLeuGlnArgSerProMetGlyArgLysGlnGlyGlyThrLeuAspAspLeuGluGluGlnAlaArgGluLeuTyrArgArgLeuArgGluLysProArgAspGlnArgThrGluGlyAspSerGlnGluMetValArgLeuLeuLeuGlnAlaIleGlnSerPheGluLysLysValArgValIleTyrThrGlnLeuSerLysThrValValCysLysGlnLysAlaLeuGluLeuLeuProLysValGluGluValValSerLeuMetAsnGluAspGluLysThrValValArgLeuGlnGluLysArgGlnLysGluLeuTrpAsnLeuLeuLysIleAlaCysSerLysValArgGlyProValSerGlySerProAspSerMetAsnAlaSerArgLeuSerGlnProGlyGlnLeuMetSerGlnProSerThrAlaSerAsnSerLeuProGluProAlaLysLysSerGluGluLeuValAlaGluAlaHisAsnLeuCysThrLeuLeuGluAsnAlaIleGlnAspThrValArgGluGlnAspGlnSerPheThrAlaLeuAspTrpSerTrpLeuGlnThrGluGluGluGluHisSerCysLeuGluGlnAlaSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713673" } ], "type": "nucleotide" }