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"NP_000439.2:p.Ser783_Phe1043delinsAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674851", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000299440.6:c.2348C>G" }, "RefSeq": { "hgvs": "NM_000448.3:c.2348C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000299440.5:p.Ser783Ter" }, "RefSeq": { "hgvs": "NP_000439.2:p.Ser783Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828706971", "coordinates": [ { "allele": "G", "end": 2821, "referenceAllele": "C", "start": 2820 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377277.1:c.2348C>G" ], "proteinEffect": { "hgvs": "NP_001364206.1:p.Ser783Ter", "hgvsWellDefined": "NP_001364206.1:p.Ser783_Phe1043delinsAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695063" }, { "@id": "http://reg.genome.network/allele/PA2828707652", "coordinates": [ { "allele": "G", "end": 2759, "referenceAllele": "C", "start": 2758 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377278.1:c.2348C>G" ], "proteinEffect": { "hgvs": "NP_001364207.1:p.Ser783Ter", "hgvsWellDefined": "NP_001364207.1:p.Ser783_Phe1043delinsAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695064" }, { "@id": "http://reg.genome.network/allele/PA2828708333", "coordinates": [ { "allele": "G", "end": 2661, "referenceAllele": "C", "start": 2660 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377279.1:c.2348C>G" ], "proteinEffect": { "hgvs": "NP_001364208.1:p.Ser783Ter", "hgvsWellDefined": "NP_001364208.1:p.Ser783_Phe1043delinsAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695065" }, { "@id": "http://reg.genome.network/allele/PA2573074439", "coordinates": [ { "allele": "G", "end": 2547, "referenceAllele": "C", "start": 2546 } ], "gene": "http://reg.genome.network/gene/GN009831", "geneNCBI_id": 5896, "geneSymbol": "RAG1", "hgvs": [ "NM_001377280.1:c.2348C>G" ], "proteinEffect": { "hgvs": "NP_001364209.1:p.Ser783Ter", "hgvsWellDefined": "NP_001364209.1:p.Ser783_Phe1043delinsAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695066" } ], "type": "nucleotide" }