{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3405336",
  "communityStandardTitle": [
    "NM_005732.4(RAD50):c.2165del (p.Lys722ArgfsTer14)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1433045",
        "active": true,
        "id": "COSM1433045"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1433046",
        "active": true,
        "id": "COSM1433046"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=394669[alleleid]",
        "alleleId": 394669,
        "preferredName": "NM_005732.4(RAD50):c.2165del (p.Lys722fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/408407",
        "RCV": [
          "RCV000471690"
        ],
        "variationId": 408407
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/5-131931451-TA-T",
        "id": "5-131931451-TA-T",
        "variant": "5:131931451 TA / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131931460del?assembly=hg19",
        "id": "chr5:g.131931460del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.131931452del?assembly=hg19",
        "id": "chr5:g.131931452del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132595768del?assembly=hg38",
        "id": "chr5:g.132595768del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.132595760del?assembly=hg38",
        "id": "chr5:g.132595760del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397507178",
        "rs": 397507178
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-131931451-TA-T?dataset=gnomad_r2_1",
        "id": "5-131931451-TA-T",
        "variant": "5:131931451 TA / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132595759-TA-T?dataset=gnomad_r3",
        "id": "5-132595759-TA-T",
        "variant": "5:132595759 TA / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-132595759-TA-T?dataset=gnomad_r4",
        "id": "5-132595759-TA-T",
        "variant": "5:132595759 TA / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 132595768,
          "referenceAllele": "A",
          "start": 132595767
        }
      ],
      "hgvs": [
        "NC_000005.10:g.132595768del",
        "CM000667.2:g.132595768del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 131931460,
          "referenceAllele": "A",
          "start": 131931459
        }
      ],
      "hgvs": [
        "NC_000005.9:g.131931460del",
        "CM000667.1:g.131931460del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 131959359,
          "referenceAllele": "A",
          "start": 131959358
        }
      ],
      "hgvs": [
        "NC_000005.8:g.131959359del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 43845,
          "referenceAllele": "A",
          "start": 43844
        }
      ],
      "hgvs": [
        "NG_021151.1:g.43845del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003445"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 43792,
          "referenceAllele": "A",
          "start": 43791
        }
      ],
      "hgvs": [
        "NG_021151.2:g.43792del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706126"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2513,
          "referenceAllele": "A",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000378823.8:c.2165del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368100.4:p.Lys722ArgfsTer14",
        "hgvsWellDefined": "ENSP00000368100.4:p.[Lys722_Glu723delinsArg;Arg725_Leu730delinsSer;Leu732del;Pro734del;Arg736_Ile740delinsLysCysTrp;Lys743_Ile747delinsCys;Glu749_Arg751del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752139",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378823.8:c.2165del"
          },
          "RefSeq": {
            "hgvs": "NM_005732.4:c.2165del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368100.4:p.Lys722ArgfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_005723.2:p.Lys722ArgfsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2404,
          "referenceAllele": "A",
          "start": 2403
        }
      ],
      "hgvs": [
        "ENST00000638452.2:c.1868del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492349.2:p.Lys623ArgfsTer14",
        "hgvsWellDefined": "ENSP00000492349.2:p.[Lys623_Glu624delinsArg;Arg626_Leu631delinsSer;Leu633del;Pro635del;Arg637_Ile641delinsLysCysTrp;Lys644_Ile648delinsCys;Glu650_Arg652del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764537"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1773,
          "referenceAllele": "A",
          "start": 1772
        }
      ],
      "hgvs": [
        "ENST00000638504.1:n.1773del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764565"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2467,
          "referenceAllele": "A",
          "start": 2466
        }
      ],
      "hgvs": [
        "ENST00000638568.2:c.1868del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491158.2:p.Lys623ArgfsTer14",
        "hgvsWellDefined": "ENSP00000491158.2:p.[Lys623_Glu624delinsArg;Arg626_Leu631delinsSer;Leu633del;Pro635del;Arg637_Ile641delinsLysCysTrp;Lys644_Ile648delinsCys;Glu650_Arg652del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764591"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2684,
          "referenceAllele": "A",
          "start": 2683
        }
      ],
      "hgvs": [
        "ENST00000639899.1:n.2684del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765234"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2543,
          "referenceAllele": "A",
          "start": 2542
        }
      ],
      "hgvs": [
        "ENST00000640655.2:c.1868del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491596.2:p.Lys623ArgfsTer14",
        "hgvsWellDefined": "ENSP00000491596.2:p.[Lys623_Glu624delinsArg;Arg626_Leu631delinsSer;Leu633del;Pro635del;Arg637_Ile641delinsLysCysTrp;Lys644_Ile648delinsCys;Glu650_Arg652del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765604"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2633,
          "referenceAllele": "A",
          "start": 2632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000651160.1:c.*309del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498829.1:n.*309del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771500"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2708,
          "referenceAllele": "A",
          "start": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000651658.1:n.2708del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771793"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2575,
          "referenceAllele": "A",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000651723.1:c.*2248del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498237.1:n.*2248del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2549,
          "referenceAllele": "A",
          "start": 2548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000652016.1:c.*382del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498267.1:n.*382del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2542,
          "referenceAllele": "A",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000652485.1:c.2198del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498973.1:p.Lys733ArgfsTer14",
        "hgvsWellDefined": "ENSP00000498973.1:p.[Lys733_Glu734delinsArg;Arg736_Leu741delinsSer;Leu743del;Pro745del;Arg747_Ile751delinsLysCysTrp;Lys754_Ile758delinsCys;Glu760_Arg762del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772236"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2552,
          "referenceAllele": "A",
          "start": 2551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000378823.7:c.2165del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368100.4:p.Lys722ArgfsTer14",
        "hgvsWellDefined": "ENSP00000368100.4:p.[Lys722_Glu723delinsArg;Arg725_Leu730delinsSer;Leu732del;Pro734del;Arg736_Ile740delinsLysCysTrp;Lys743_Ile747delinsCys;Glu749_Arg751del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272217"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2101,
          "referenceAllele": "A",
          "start": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000423956.5:c.*351del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390971.1:n.*351del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS288019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2076,
          "referenceAllele": "A",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000453394.5:c.1982del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS302091"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 248,
          "referenceAllele": "A",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000496204.1:n.248del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332738"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2487,
          "referenceAllele": "A",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "ENST00000533482.5:c.*1791del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431225.1:n.*1791del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358249"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2566,
          "referenceAllele": "A",
          "start": 2565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "NM_005732.3:c.2165del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005723.2:p.Lys722ArgfsTer14",
        "hgvsWellDefined": "NP_005723.2:p.[Lys722_Glu723delinsArg;Arg725_Leu730delinsSer;Leu732del;Pro734del;Arg736_Ile740delinsLysCysTrp;Lys743_Ile747delinsCys;Glu749_Arg751del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030809"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2513,
          "referenceAllele": "A",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009816",
      "geneNCBI_id": 10111,
      "geneSymbol": "RAD50",
      "hgvs": [
        "NM_005732.4:c.2165del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005723.2:p.Lys722ArgfsTer14",
        "hgvsWellDefined": "NP_005723.2:p.[Lys722_Glu723delinsArg;Arg725_Leu730delinsSer;Leu732del;Pro734del;Arg736_Ile740delinsLysCysTrp;Lys743_Ile747delinsCys;Glu749_Arg751del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696507",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378823.8:c.2165del"
          },
          "RefSeq": {
            "hgvs": "NM_005732.4:c.2165del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368100.4:p.Lys722ArgfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_005723.2:p.Lys722ArgfsTer14"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}