{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA380146775", "communityStandardTitle": [ "NM_000448.3(RAG1):c.540G>A (p.Trp180Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1701668[alleleid]", "alleleId": 1701668, "preferredName": "NM_000448.3(RAG1):c.540G>A (p.Trp180Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1705584", "RCV": [ "RCV002283898", "RCV003475328" ], "variationId": 1705584 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.36595394G>A?assembly=hg19", "id": "chr11:g.36595394G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.36573844G>A?assembly=hg38", "id": "chr11:g.36573844G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2494752085", "rs": 2494752085 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 36573844, "referenceAllele": "G", "start": 36573843 } ], "hgvs": [ "NC_000011.10:g.36573844G>A", "CM000673.2:g.36573844G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 36595394, "referenceAllele": "G", "start": 36595393 } ], "hgvs": [ "NC_000011.9:g.36595394G>A", "CM000673.1:g.36595394G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 36551970, "referenceAllele": "G", "start": 36551969 } ], "hgvs": [ "NC_000011.8:g.36551970G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 10832, "referenceAllele": "G", "start": 10831 } ], "hgvs": [ "NG_007528.1:g.10832G>A", "LRG_98:g.10832G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000636" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 836, "referenceAllele": "G", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000697713.1:c.540G>A" ], "proteinEffect": { "hgvs": "ENSP00000513411.1:p.Trp180Ter", "hgvsWellDefined": "ENSP00000513411.1:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908925" }, { "coordinates": [ { "allele": "A", "end": 720, "referenceAllele": "G", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000697714.1:c.540G>A" ], "proteinEffect": { "hgvs": "ENSP00000513412.1:p.Trp180Ter", "hgvsWellDefined": "ENSP00000513412.1:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908926" }, { "coordinates": [ { "allele": "A", "end": 963, "referenceAllele": "G", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000697715.1:c.540G>A" ], "proteinEffect": { "hgvs": "ENSP00000513413.1:p.Trp180Ter", "hgvsWellDefined": "ENSP00000513413.1:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908927" }, { "coordinates": [ { "allele": "A", "end": 670, "referenceAllele": "G", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000299440.6:c.540G>A" ], "proteinEffect": { "hgvs": "ENSP00000299440.5:p.Trp180Ter", "hgvsWellDefined": "ENSP00000299440.5:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744676", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299440.6:c.540G>A" }, "RefSeq": { "hgvs": "NM_000448.3:c.540G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299440.5:p.Trp180Ter" }, "RefSeq": { "hgvs": "NP_000439.2:p.Trp180Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 652, "referenceAllele": "G", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000299440.5:c.540G>A" ], "proteinEffect": { "hgvs": "ENSP00000299440.5:p.Trp180Ter", "hgvsWellDefined": "ENSP00000299440.5:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254725" }, { "coordinates": [ { "allele": "A", "end": 1176, "referenceAllele": "G", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000534663.1:c.540G>A" ], "proteinEffect": { "hgvs": "ENSP00000434610.1:p.Trp180Ter", "hgvsWellDefined": "ENSP00000434610.1:p.Trp180_Asn931delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359238" }, { "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "G", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_000448.2:c.540G>A", "LRG_98t1:c.540G>A" ], "proteinEffect": { "hgvs": "NP_000439.1:p.Trp180Ter", "hgvsWellDefined": "NP_000439.1:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnArgLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006510" }, { "coordinates": [ { "allele": "A", "end": 692, "referenceAllele": "G", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_005253041.3:c.540G>A" ], "proteinEffect": { "hgvs": "XP_005253098.1:p.Trp180Ter", "hgvsWellDefined": "XP_005253098.1:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060133" }, { "coordinates": [ { "allele": "A", "end": 806, "referenceAllele": "G", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_011520250.1:c.540G>A" ], "proteinEffect": { "hgvs": "XP_011518552.1:p.Trp180Ter", "hgvsWellDefined": "XP_011518552.1:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087419" }, { "coordinates": [ { "allele": "A", "end": 904, "referenceAllele": "G", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_011520251.1:c.540G>A" ], "proteinEffect": { "hgvs": "XP_011518553.1:p.Trp180Ter", "hgvsWellDefined": "XP_011518553.1:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087420" }, { "coordinates": [ { "allele": "A", "end": 726, "referenceAllele": "G", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_005253041.4:c.540G>A" ], "proteinEffect": { "hgvs": "XP_005253098.1:p.Trp180Ter", "hgvsWellDefined": "XP_005253098.1:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533889" }, { "coordinates": [ { "allele": "A", "end": 840, "referenceAllele": "G", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_011520250.2:c.540G>A" ], "proteinEffect": { "hgvs": "XP_011518552.1:p.Trp180Ter", "hgvsWellDefined": "XP_011518552.1:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545657" }, { "@id": "http://reg.genome.network/allele/PA2825177244", "coordinates": [ { "allele": "A", "end": 670, "referenceAllele": "G", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_000448.3:c.540G>A" ], "proteinEffect": { "hgvs": "NP_000439.2:p.Trp180Ter", "hgvsWellDefined": "NP_000439.2:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674851", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299440.6:c.540G>A" }, "RefSeq": { "hgvs": "NM_000448.3:c.540G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299440.5:p.Trp180Ter" }, "RefSeq": { "hgvs": "NP_000439.2:p.Trp180Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828706599", "coordinates": [ { "allele": "A", "end": 1013, "referenceAllele": "G", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377277.1:c.540G>A" ], "proteinEffect": { "hgvs": "NP_001364206.1:p.Trp180Ter", "hgvsWellDefined": "NP_001364206.1:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695063" }, { "@id": "http://reg.genome.network/allele/PA2828707280", "coordinates": [ { "allele": "A", "end": 951, "referenceAllele": "G", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377278.1:c.540G>A" ], "proteinEffect": { "hgvs": "NP_001364207.1:p.Trp180Ter", "hgvsWellDefined": "NP_001364207.1:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695064" }, { "@id": "http://reg.genome.network/allele/PA2828707961", "coordinates": [ { "allele": "A", "end": 853, "referenceAllele": "G", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377279.1:c.540G>A" ], "proteinEffect": { "hgvs": "NP_001364208.1:p.Trp180Ter", "hgvsWellDefined": "NP_001364208.1:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695065" }, { "@id": "http://reg.genome.network/allele/PA2580239505", "coordinates": [ { "allele": "A", "end": 739, "referenceAllele": "G", "start": 738 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377280.1:c.540G>A" ], "proteinEffect": { "hgvs": "NP_001364209.1:p.Trp180Ter", "hgvsWellDefined": "NP_001364209.1:p.Trp180_Phe1043delinsSerIleMetHisArgLysPheSerSerAlaProCysGluValTyrPheProArgAsnValThrMetGluTrpHisProHisThrProSerCysAspIleCysAsnThrAlaArgArgGlyLeuLysArgLysSerLeuGlnProAsnLeuGlnLeuSerLysLysLeuLysThrValLeuAspGlnAlaArgGlnAlaArgGlnHisLysArgArgAlaGlnAlaArgIleSerSerLysAspValMetLysLysIleAlaAsnCysSerLysIleHisLeuSerThrLysLeuLeuAlaValAspPheProGluHisPheValLysSerIleSerCysGlnIleCysGluHisIleLeuAlaAspProValGluThrAsnCysLysHisValPheCysArgValCysIleLeuArgCysLeuLysValMetGlySerTyrCysProSerCysArgTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695066" } ], "type": "nucleotide" }