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"NP_000439.2:p.Glu774_Phe1043delinsLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674851", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299440.6:c.2320G>T" }, "RefSeq": { "hgvs": "NM_000448.3:c.2320G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299440.5:p.Glu774Ter" }, "RefSeq": { "hgvs": "NP_000439.2:p.Glu774Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828706961", "coordinates": [ { "allele": "T", "end": 2793, "referenceAllele": "G", "start": 2792 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377277.1:c.2320G>T" ], "proteinEffect": { "hgvs": "NP_001364206.1:p.Glu774Ter", "hgvsWellDefined": "NP_001364206.1:p.Glu774_Phe1043delinsLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695063" }, { "@id": "http://reg.genome.network/allele/PA2828707642", "coordinates": [ { "allele": "T", "end": 2731, "referenceAllele": "G", "start": 2730 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377278.1:c.2320G>T" ], "proteinEffect": { "hgvs": "NP_001364207.1:p.Glu774Ter", "hgvsWellDefined": "NP_001364207.1:p.Glu774_Phe1043delinsLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695064" }, { "@id": "http://reg.genome.network/allele/PA2828708323", "coordinates": [ { "allele": "T", "end": 2633, "referenceAllele": "G", "start": 2632 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377279.1:c.2320G>T" ], "proteinEffect": { "hgvs": "NP_001364208.1:p.Glu774Ter", "hgvsWellDefined": "NP_001364208.1:p.Glu774_Phe1043delinsLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695065" }, { "@id": "http://reg.genome.network/allele/PA2573074436", "coordinates": [ { "allele": "T", "end": 2519, "referenceAllele": "G", "start": 2518 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377280.1:c.2320G>T" ], "proteinEffect": { "hgvs": "NP_001364209.1:p.Glu774Ter", "hgvsWellDefined": "NP_001364209.1:p.Glu774_Phe1043delinsLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695066" } ], "type": "nucleotide" }