{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA598865149",
  "communityStandardTitle": [
    "NM_000448.3(RAG1):c.1233_1241dup (p.Arg412_Leu414dup)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36596083_36596084insGCTGAGGGA?assembly=hg19",
        "id": "chr11:g.36596083_36596084insGCTGAGGGA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1564988973",
        "rs": 1564988973
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36596083-G-GGCTGAGGGA?dataset=gnomad_r2_1",
        "id": "11-36596083-G-GGCTGAGGGA",
        "variant": "11:36596083 G / GGCTGAGGGA"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36574533-G-GGCTGAGGGA?dataset=gnomad_r4",
        "id": "11-36574533-G-GGCTGAGGGA",
        "variant": "11:36574533 G / GGCTGAGGGA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 36574545,
          "referenceAllele": "",
          "start": 36574545
        }
      ],
      "hgvs": [
        "NC_000011.10:g.36574537_36574545dup",
        "CM000673.2:g.36574537_36574545dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 36596095,
          "referenceAllele": "",
          "start": 36596095
        }
      ],
      "hgvs": [
        "NC_000011.9:g.36596087_36596095dup",
        "CM000673.1:g.36596087_36596095dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 36552671,
          "referenceAllele": "",
          "start": 36552671
        }
      ],
      "hgvs": [
        "NC_000011.8:g.36552663_36552671dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 11533,
          "referenceAllele": "",
          "start": 11533
        }
      ],
      "hgvs": [
        "NG_007528.1:g.11525_11533dup",
        "LRG_98:g.11525_11533dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000636"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1537,
          "referenceAllele": "",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697713.1:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513411.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "ENSP00000513411.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908925"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1421,
          "referenceAllele": "",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697714.1:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513412.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "ENSP00000513412.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908926"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1664,
          "referenceAllele": "",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697715.1:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513413.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "ENSP00000513413.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908927"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1371,
          "referenceAllele": "",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.6:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "ENSP00000299440.5:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.1233_1241dup"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.1233_1241dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Leu414_Lys415insArgGluLeu"
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Leu414_Lys415insArgGluLeu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1353,
          "referenceAllele": "",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.5:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "ENSP00000299440.5:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254725"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1877,
          "referenceAllele": "",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000534663.1:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434610.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "ENSP00000434610.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359238"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1365,
          "referenceAllele": "",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.2:c.1233_1241dup",
        "LRG_98t1:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "NP_000439.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006510"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1393,
          "referenceAllele": "",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.3:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "XP_005253098.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060133"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1507,
          "referenceAllele": "",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.1:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "XP_011518552.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087419"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1605,
          "referenceAllele": "",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520251.1:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518553.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "XP_011518553.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087420"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1427,
          "referenceAllele": "",
          "start": 1427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.4:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "XP_005253098.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533889"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1541,
          "referenceAllele": "",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.2:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "XP_011518552.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3078693234",
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1371,
          "referenceAllele": "",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.3:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.2:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "NP_000439.2:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.1233_1241dup"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.1233_1241dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Leu414_Lys415insArgGluLeu"
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Leu414_Lys415insArgGluLeu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1714,
          "referenceAllele": "",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377277.1:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364206.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "NP_001364206.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695063"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1652,
          "referenceAllele": "",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377278.1:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364207.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "NP_001364207.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695064"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1554,
          "referenceAllele": "",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377279.1:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364208.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "NP_001364208.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695065"
    },
    {
      "coordinates": [
        {
          "allele": "GAGGGAGCT",
          "end": 1440,
          "referenceAllele": "",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377280.1:c.1233_1241dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364209.1:p.Leu414_Lys415insArgGluLeu",
        "hgvsWellDefined": "NP_001364209.1:p.Arg412_Leu414dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695066"
    }
  ],
  "type": "nucleotide"
}