{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA220600683", "communityStandardTitle": [ "NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=444799[alleleid]", "alleleId": 444799, "preferredName": "NM_000448.3(RAG1):c.999T>A (p.Tyr333Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/449383", "RCV": [ "RCV000521773", "RCV003766940" ], "variationId": 449383 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.36595853T>A?assembly=hg19", "id": "chr11:g.36595853T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.36574303T>A?assembly=hg38", "id": "chr11:g.36574303T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/902350422", "rs": 902350422 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-36574303-T-A?dataset=gnomad_r3", "id": "11-36574303-T-A", "variant": "11:36574303 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-36574303-T-A?dataset=gnomad_r4", "id": "11-36574303-T-A", "variant": "11:36574303 T / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 36574303, "referenceAllele": "T", "start": 36574302 } ], "hgvs": [ "NC_000011.10:g.36574303T>A", "CM000673.2:g.36574303T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 36595853, "referenceAllele": "T", "start": 36595852 } ], "hgvs": [ "NC_000011.9:g.36595853T>A", "CM000673.1:g.36595853T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 36552429, "referenceAllele": "T", "start": 36552428 } ], "hgvs": [ "NC_000011.8:g.36552429T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 11291, "referenceAllele": "T", "start": 11290 } ], "hgvs": [ "NG_007528.1:g.11291T>A", "LRG_98:g.11291T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000636" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1295, "referenceAllele": "T", "start": 1294 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000697713.1:c.999T>A" ], "proteinEffect": { "hgvs": "ENSP00000513411.1:p.Tyr333Ter", "hgvsWellDefined": "ENSP00000513411.1:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908925" }, { "coordinates": [ { "allele": "A", "end": 1179, "referenceAllele": "T", "start": 1178 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000697714.1:c.999T>A" ], "proteinEffect": { "hgvs": "ENSP00000513412.1:p.Tyr333Ter", "hgvsWellDefined": "ENSP00000513412.1:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908926" }, { "coordinates": [ { "allele": "A", "end": 1422, "referenceAllele": "T", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000697715.1:c.999T>A" ], "proteinEffect": { "hgvs": "ENSP00000513413.1:p.Tyr333Ter", "hgvsWellDefined": "ENSP00000513413.1:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908927" }, { "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "T", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000299440.6:c.999T>A" ], "proteinEffect": { "hgvs": "ENSP00000299440.5:p.Tyr333Ter", "hgvsWellDefined": "ENSP00000299440.5:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744676", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299440.6:c.999T>A" }, "RefSeq": { "hgvs": "NM_000448.3:c.999T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299440.5:p.Tyr333Ter" }, "RefSeq": { "hgvs": "NP_000439.2:p.Tyr333Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "T", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000299440.5:c.999T>A" ], "proteinEffect": { "hgvs": "ENSP00000299440.5:p.Tyr333Ter", "hgvsWellDefined": "ENSP00000299440.5:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254725" }, { "coordinates": [ { "allele": "A", "end": 1635, "referenceAllele": "T", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "ENST00000534663.1:c.999T>A" ], "proteinEffect": { "hgvs": "ENSP00000434610.1:p.Tyr333Ter", "hgvsWellDefined": "ENSP00000434610.1:p.Tyr333_Asn931delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS359238" }, { "@id": "http://reg.genome.network/allele/PA658664333", "coordinates": [ { "allele": "A", "end": 1123, "referenceAllele": "T", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_000448.2:c.999T>A", "LRG_98t1:c.999T>A" ], "proteinEffect": { "hgvs": "NP_000439.1:p.Tyr333Ter", "hgvsWellDefined": "NP_000439.1:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006510" }, { "coordinates": [ { "allele": "A", "end": 1151, "referenceAllele": "T", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_005253041.3:c.999T>A" ], "proteinEffect": { "hgvs": "XP_005253098.1:p.Tyr333Ter", "hgvsWellDefined": "XP_005253098.1:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060133" }, { "coordinates": [ { "allele": "A", "end": 1265, "referenceAllele": "T", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_011520250.1:c.999T>A" ], "proteinEffect": { "hgvs": "XP_011518552.1:p.Tyr333Ter", "hgvsWellDefined": "XP_011518552.1:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087419" }, { "coordinates": [ { "allele": "A", "end": 1363, "referenceAllele": "T", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_011520251.1:c.999T>A" ], "proteinEffect": { "hgvs": "XP_011518553.1:p.Tyr333Ter", "hgvsWellDefined": "XP_011518553.1:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087420" }, { "coordinates": [ { "allele": "A", "end": 1185, "referenceAllele": "T", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_005253041.4:c.999T>A" ], "proteinEffect": { "hgvs": "XP_005253098.1:p.Tyr333Ter", "hgvsWellDefined": "XP_005253098.1:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS533889" }, { "coordinates": [ { "allele": "A", "end": 1299, "referenceAllele": "T", "start": 1298 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "XM_011520250.2:c.999T>A" ], "proteinEffect": { "hgvs": "XP_011518552.1:p.Tyr333Ter", "hgvsWellDefined": "XP_011518552.1:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545657" }, { "@id": "http://reg.genome.network/allele/PA2825177346", "coordinates": [ { "allele": "A", "end": 1129, "referenceAllele": "T", "start": 1128 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_000448.3:c.999T>A" ], "proteinEffect": { "hgvs": "NP_000439.2:p.Tyr333Ter", "hgvsWellDefined": "NP_000439.2:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674851", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299440.6:c.999T>A" }, "RefSeq": { "hgvs": "NM_000448.3:c.999T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299440.5:p.Tyr333Ter" }, "RefSeq": { "hgvs": "NP_000439.2:p.Tyr333Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828706701", "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "T", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377277.1:c.999T>A" ], "proteinEffect": { "hgvs": "NP_001364206.1:p.Tyr333Ter", "hgvsWellDefined": "NP_001364206.1:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695063" }, { "@id": "http://reg.genome.network/allele/PA2828707382", "coordinates": [ { "allele": "A", "end": 1410, "referenceAllele": "T", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377278.1:c.999T>A" ], "proteinEffect": { "hgvs": "NP_001364207.1:p.Tyr333Ter", "hgvsWellDefined": "NP_001364207.1:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695064" }, { "@id": "http://reg.genome.network/allele/PA2828708064", "coordinates": [ { "allele": "A", "end": 1312, "referenceAllele": "T", "start": 1311 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377279.1:c.999T>A" ], "proteinEffect": { "hgvs": "NP_001364208.1:p.Tyr333Ter", "hgvsWellDefined": "NP_001364208.1:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695065" }, { "@id": "http://reg.genome.network/allele/PA2573074375", "coordinates": [ { "allele": "A", "end": 1198, "referenceAllele": "T", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377280.1:c.999T>A" ], "proteinEffect": { "hgvs": "NP_001364209.1:p.Tyr333Ter", "hgvsWellDefined": "NP_001364209.1:p.Tyr333_Phe1043delinsProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695066" } ], "type": "nucleotide" }