{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA333204",
  "communityStandardTitle": [
    "NM_005732.4(RAD50):c.94dup (p.Thr32AsnfsTer16)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150993[alleleid]",
        "alleleId": 150993,
        "preferredName": "NM_005732.4(RAD50):c.94dup (p.Thr32fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141279",
        "RCV": [
          "RCV000129727",
          "RCV001781467",
          "RCV003398760"
        ],
        "variationId": 141279
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131893110dupA?assembly=hg19",
        "id": "chr5:g.131893110dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131893109_131893110insA?assembly=hg19",
        "id": "chr5:g.131893109_131893110insA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132557418dupA?assembly=hg38",
        "id": "chr5:g.132557418dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132557417_132557418insA?assembly=hg38",
        "id": "chr5:g.132557417_132557418insA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587781625",
        "rs": 587781625
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-131893109-T-TA?dataset=gnomad_r2_1",
        "id": "5-131893109-T-TA",
        "variant": "5:131893109 T / TA"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132557417-T-TA?dataset=gnomad_r3",
        "id": "5-132557417-T-TA",
        "variant": "5:132557417 T / TA"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132557417-T-TA?dataset=gnomad_r4",
        "id": "5-132557417-T-TA",
        "variant": "5:132557417 T / TA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 132557418,
          "referenceAllele": "",
          "start": 132557418
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132557418dup",
        "CM000667.2:g.132557418dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 131893110,
          "referenceAllele": "",
          "start": 131893110
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131893110dup",
        "CM000667.1:g.131893110dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 131921009,
          "referenceAllele": "",
          "start": 131921009
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131921009dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5495,
          "referenceAllele": "",
          "start": 5495
        }
      ],
      "hgvs": [
        "NG_021151.1:g.5495dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5442,
          "referenceAllele": "",
          "start": 5442
        }
      ],
      "hgvs": [
        "NG_021151.2:g.5442dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706126"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000378823.8:c.94dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368100.4:p.Thr32AsnfsTer16"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378823.8:c.94dup"
          },
          "RefSeq": {
            "hgvs": "NM_005732.4:c.94dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368100.4:p.Thr32AsnfsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_005723.2:p.Thr32AsnfsTer16"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 368,
          "endIntronDirection": "-",
          "endIntronOffset": 1865,
          "referenceAllele": "",
          "start": 368,
          "startIntronDirection": "-",
          "startIntronOffset": 1865
        }
      ],
      "hgvs": [
        "ENST00000638452.2:c.-168-1866dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492349.2:n.-168-1866dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 206,
          "endIntronDirection": "-",
          "endIntronOffset": 1865,
          "referenceAllele": "",
          "start": 206,
          "startIntronDirection": "-",
          "startIntronOffset": 1865
        }
      ],
      "hgvs": [
        "ENST00000638504.1:n.207-1866dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "endIntronDirection": "+",
          "endIntronOffset": 945,
          "referenceAllele": "",
          "start": 431,
          "startIntronDirection": "+",
          "startIntronOffset": 945
        }
      ],
      "hgvs": [
        "ENST00000638568.2:c.-169+945dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491158.2:n.-169+945dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 289,
          "endIntronDirection": "-",
          "endIntronOffset": 1865,
          "referenceAllele": "",
          "start": 289,
          "startIntronDirection": "-",
          "startIntronOffset": 1865
        }
      ],
      "hgvs": [
        "ENST00000639899.1:n.290-1866dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "endIntronDirection": "-",
          "endIntronOffset": 1865,
          "referenceAllele": "",
          "start": 507,
          "startIntronDirection": "-",
          "startIntronOffset": 1865
        }
      ],
      "hgvs": [
        "ENST00000640655.2:c.-168-1866dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491596.2:n.-168-1866dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 438,
          "referenceAllele": "",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000651160.1:c.94dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498829.1:p.Thr32AsnfsTer16",
        "hgvsWellDefined": "ENSP00000498829.1:p.[Thr32_Pro37delinsAsn;Gly39_Ala40delinsPhe;Lys42Trp;Thr44_Leu49delinsGlnTrpGlyGly;Tyr51_Gly55delinsAsp;Phe57_Thr61delinsHisHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 80,
          "endIntronDirection": "+",
          "endIntronOffset": 409,
          "referenceAllele": "",
          "start": 80,
          "startIntronDirection": "+",
          "startIntronOffset": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000651541.1:c.-169+409dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498795.1:n.-169+409dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 162,
          "referenceAllele": "",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000651658.1:n.162dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 277,
          "referenceAllele": "",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000651723.1:c.94dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498237.1:p.Thr32AsnfsTer?",
        "hgvsWellDefined": "ENSP00000498237.1:p.[Thr32_Asn38delinsAsnAsnPheGlyTrpThrGlnTrp;Ala40delinsGlyLysAsp;Thr43delinsSerSer;Val44_Ser45insAlaAlaPhe;Gln47_Ter48insValAlaThrSerPheGlyGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 440,
          "referenceAllele": "",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000652016.1:c.94dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498267.1:p.Thr32AsnfsTer16",
        "hgvsWellDefined": "ENSP00000498267.1:p.[Thr32_Pro37delinsAsn;Gly39_Ala40delinsPhe;Lys42Trp;Thr44_Leu49delinsGlnTrpGlyGly;Tyr51_Gly55delinsAsp;Phe57_Thr61delinsHisHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 438,
          "referenceAllele": "",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000652485.1:c.94dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498973.1:p.Thr32AsnfsTer16",
        "hgvsWellDefined": "ENSP00000498973.1:p.[Thr32_Pro37delinsAsn;Gly39_Ala40delinsPhe;Lys42Trp;Thr44_Leu49delinsGlnTrpGlyGly;Tyr51_Gly55delinsAsp;Phe57_Thr61delinsHisHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 481,
          "referenceAllele": "",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000378823.7:c.94dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368100.4:p.Thr32AsnfsTer16"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 455,
          "endIntronDirection": "+",
          "endIntronOffset": 945,
          "referenceAllele": "",
          "start": 455,
          "startIntronDirection": "+",
          "startIntronOffset": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000416135.5:c.-169+945dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389515.1:n.-169+945dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 188,
          "referenceAllele": "",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000423956.5:c.94dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390971.1:p.Thr32AsnfsTer16",
        "hgvsWellDefined": "ENSP00000390971.1:p.[Thr32_Pro37delinsAsn;Gly39_Ala40delinsPhe;Lys42Trp;Thr44_Leu49delinsGlnTrpGlyGly;Tyr51_Gly55delinsAsp;Phe57_Thr61delinsHisHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 188,
          "referenceAllele": "",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000453394.5:c.94dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400049.1:p.Thr32AsnfsTer16",
        "hgvsWellDefined": "ENSP00000400049.1:p.[Thr32_Pro37delinsAsn;Gly39_Ala40delinsPhe;Lys42Trp;Thr44_Leu49delinsGlnTrpGlyGly;Tyr51_Gly55delinsAsp;Phe57_Thr61delinsHisHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 481,
          "referenceAllele": "",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000533482.5:c.94dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431225.1:p.Thr32AsnfsTer16",
        "hgvsWellDefined": "ENSP00000431225.1:p.[Thr32_Pro37delinsAsn;Gly39_Ala40delinsPhe;Lys42Trp;Thr44_Leu49delinsGlnTrpGlyGly;Tyr51_Gly55delinsAsp;Phe57_Thr61delinsHisHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "NM_005732.3:c.94dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005723.2:p.Thr32AsnfsTer16"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030809"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "NM_005732.4:c.94dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005723.2:p.Thr32AsnfsTer16"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696507",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378823.8:c.94dup"
          },
          "RefSeq": {
            "hgvs": "NM_005732.4:c.94dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368100.4:p.Thr32AsnfsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_005723.2:p.Thr32AsnfsTer16"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}