{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA380152029",
  "communityStandardTitle": [
    "NM_000448.3(RAG1):c.1237G>T (p.Glu413Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36596091G>T?assembly=hg19",
        "id": "chr11:g.36596091G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36574541G>T?assembly=hg38",
        "id": "chr11:g.36574541G>T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 36574541,
          "referenceAllele": "G",
          "start": 36574540
        }
      ],
      "hgvs": [
        "NC_000011.10:g.36574541G>T",
        "CM000673.2:g.36574541G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 36596091,
          "referenceAllele": "G",
          "start": 36596090
        }
      ],
      "hgvs": [
        "NC_000011.9:g.36596091G>T",
        "CM000673.1:g.36596091G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 36552667,
          "referenceAllele": "G",
          "start": 36552666
        }
      ],
      "hgvs": [
        "NC_000011.8:g.36552667G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11529,
          "referenceAllele": "G",
          "start": 11528
        }
      ],
      "hgvs": [
        "NG_007528.1:g.11529G>T",
        "LRG_98:g.11529G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000636"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1533,
          "referenceAllele": "G",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697713.1:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513411.1:p.Glu413Ter",
        "hgvsWellDefined": "ENSP00000513411.1:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1417,
          "referenceAllele": "G",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697714.1:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513412.1:p.Glu413Ter",
        "hgvsWellDefined": "ENSP00000513412.1:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1660,
          "referenceAllele": "G",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697715.1:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513413.1:p.Glu413Ter",
        "hgvsWellDefined": "ENSP00000513413.1:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1367,
          "referenceAllele": "G",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.6:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Glu413Ter",
        "hgvsWellDefined": "ENSP00000299440.5:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.1237G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.1237G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Glu413Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Glu413Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "G",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.5:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Glu413Ter",
        "hgvsWellDefined": "ENSP00000299440.5:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1873,
          "referenceAllele": "G",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000534663.1:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434610.1:p.Glu413Ter",
        "hgvsWellDefined": "ENSP00000434610.1:p.Glu413_Asn931delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1361,
          "referenceAllele": "G",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.2:c.1237G>T",
        "LRG_98t1:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.1:p.Glu413Ter",
        "hgvsWellDefined": "NP_000439.1:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1389,
          "referenceAllele": "G",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.3:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Glu413Ter",
        "hgvsWellDefined": "XP_005253098.1:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1503,
          "referenceAllele": "G",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.1:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Glu413Ter",
        "hgvsWellDefined": "XP_011518552.1:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1601,
          "referenceAllele": "G",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520251.1:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518553.1:p.Glu413Ter",
        "hgvsWellDefined": "XP_011518553.1:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "G",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.4:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Glu413Ter",
        "hgvsWellDefined": "XP_005253098.1:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1537,
          "referenceAllele": "G",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.2:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Glu413Ter",
        "hgvsWellDefined": "XP_011518552.1:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1367,
          "referenceAllele": "G",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.3:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.2:p.Glu413Ter",
        "hgvsWellDefined": "NP_000439.2:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.1237G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.1237G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Glu413Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Glu413Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1710,
          "referenceAllele": "G",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377277.1:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364206.1:p.Glu413Ter",
        "hgvsWellDefined": "NP_001364206.1:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "G",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377278.1:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364207.1:p.Glu413Ter",
        "hgvsWellDefined": "NP_001364207.1:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1550,
          "referenceAllele": "G",
          "start": 1549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377279.1:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364208.1:p.Glu413Ter",
        "hgvsWellDefined": "NP_001364208.1:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1436,
          "referenceAllele": "G",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377280.1:c.1237G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364209.1:p.Glu413Ter",
        "hgvsWellDefined": "NP_001364209.1:p.Glu413_Phe1043delinsLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695066"
    }
  ],
  "type": "nucleotide"
}