{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371674821",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.2194C>T (p.Gln732Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=458003[alleleid]",
        "alleleId": 458003,
        "preferredName": "NM_002485.5(NBN):c.2194C>T (p.Gln732Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/461545",
        "RCV": [
          "RCV000552881",
          "RCV002431579"
        ],
        "variationId": 461545
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90949294G>A?assembly=hg19",
        "id": "chr8:g.90949294G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89937066G>A?assembly=hg38",
        "id": "chr8:g.89937066G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554554265",
        "rs": 1554554265
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 89937066,
          "referenceAllele": "G",
          "start": 89937065
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89937066G>A",
        "CM000670.2:g.89937066G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 90949294,
          "referenceAllele": "G",
          "start": 90949293
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90949294G>A",
        "CM000670.1:g.90949294G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 91018470,
          "referenceAllele": "G",
          "start": 91018469
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91018470G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 52606,
          "referenceAllele": "C",
          "start": 52605
        }
      ],
      "hgvs": [
        "NG_008860.1:g.52606C>T",
        "LRG_158:g.52606C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3614,
          "referenceAllele": "C",
          "start": 3613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000474821.2:n.3614C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3496,
          "referenceAllele": "C",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.3496C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2242,
          "referenceAllele": "C",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Gln650Ter",
        "hgvsWellDefined": "ENSP00000429971.2:p.Gln650_Arg672delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2407,
          "referenceAllele": "C",
          "start": 2406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Gln650Ter",
        "hgvsWellDefined": "ENSP00000428252.2:p.Gln650_Arg672delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2315,
          "referenceAllele": "C",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.2194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Gln732Ter",
        "hgvsWellDefined": "ENSP00000513229.1:p.Gln732_Arg754delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2355,
          "referenceAllele": "C",
          "start": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.2245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Gln749Ter",
        "hgvsWellDefined": "ENSP00000513230.1:p.Gln749_Arg771delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2280,
          "referenceAllele": "C",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*1805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*1805C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1734,
          "referenceAllele": "C",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*1503C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*1503C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2149,
          "referenceAllele": "C",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*1862C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*1862C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3979,
          "referenceAllele": "C",
          "start": 3978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.3979C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2533,
          "referenceAllele": "C",
          "start": 2532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Gln650Ter",
        "hgvsWellDefined": "ENSP00000513234.1:p.Gln650_Arg672delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2166,
          "referenceAllele": "C",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Gln650Ter",
        "hgvsWellDefined": "ENSP00000513235.1:p.Gln650_Arg672delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2440,
          "referenceAllele": "C",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*1798C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*1798C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2309,
          "referenceAllele": "C",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*1715C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*1715C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2259,
          "referenceAllele": "C",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*1715C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*1715C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2390,
          "referenceAllele": "C",
          "start": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*1798C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*1798C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1992,
          "referenceAllele": "C",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.1882C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Gln628Ter",
        "hgvsWellDefined": "ENSP00000513240.1:p.Gln628_Arg650delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2461,
          "referenceAllele": "C",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697305.1:n.2461C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3337,
          "referenceAllele": "C",
          "start": 3336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*2745C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*2745C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2079,
          "referenceAllele": "C",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.1969C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Gln657Ter",
        "hgvsWellDefined": "ENSP00000513242.1:p.Gln657_Arg679delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2235,
          "referenceAllele": "C",
          "start": 2234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.2125C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Gln709Ter",
        "hgvsWellDefined": "ENSP00000513243.1:p.Gln709_Arg731delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2294,
          "endIntronDirection": "-",
          "endIntronOffset": 1453,
          "referenceAllele": "C",
          "start": 2294,
          "startIntronDirection": "-",
          "startIntronOffset": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.2185-1454C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:n.2185-1454C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2315,
          "referenceAllele": "C",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.2194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Gln732Ter",
        "hgvsWellDefined": "ENSP00000513245.1:p.Gln732_Arg754delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2768,
          "referenceAllele": "C",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.*459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:n.*459C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2251,
          "referenceAllele": "C",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*1647C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*1647C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2687,
          "endIntronDirection": "-",
          "endIntronOffset": 1453,
          "referenceAllele": "C",
          "start": 2687,
          "startIntronDirection": "-",
          "startIntronOffset": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2688-1454C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3636,
          "endIntronDirection": "-",
          "endIntronOffset": 1453,
          "referenceAllele": "C",
          "start": 3636,
          "startIntronDirection": "-",
          "startIntronOffset": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3637-1454C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2413,
          "referenceAllele": "C",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.*98C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:n.*98C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2315,
          "referenceAllele": "C",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.2315C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2300,
          "referenceAllele": "C",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.2194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Gln732Ter",
        "hgvsWellDefined": "ENSP00000265433.4:p.Gln732_Arg754delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.2194C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.2194C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Gln732Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Gln732Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2349,
          "referenceAllele": "C",
          "start": 2348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.2194C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Gln732Ter",
        "hgvsWellDefined": "ENSP00000265433.3:p.Gln732_Arg754delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2590,
          "referenceAllele": "C",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*2067C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*2067C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Gln650Ter",
        "hgvsWellDefined": "ENSP00000386924.1:p.Gln650_Arg672delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000474821.1:n.282C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "referenceAllele": "C",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000613033.1:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484487.1:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000484487.1:p.Gln102_Arg124delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335961",
      "coordinates": [
        {
          "allele": "T",
          "end": 2407,
          "referenceAllele": "C",
          "start": 2406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Gln650Ter",
        "hgvsWellDefined": "NP_001019859.1:p.Gln650_Arg672delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658672219",
      "coordinates": [
        {
          "allele": "T",
          "end": 2304,
          "referenceAllele": "C",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.2194C>T",
        "LRG_158t1:c.2194C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Gln732Ter",
        "hgvsWellDefined": "NP_002476.2:p.Gln732_Arg754delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2185,
          "referenceAllele": "C",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.2170C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Gln724Ter",
        "hgvsWellDefined": "XP_011515346.1:p.Gln724_Arg746delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2237,
          "referenceAllele": "C",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Gln650Ter",
        "hgvsWellDefined": "XP_011515347.1:p.Gln650_Arg672delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2388,
          "referenceAllele": "C",
          "start": 2387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.1315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Gln439Ter",
        "hgvsWellDefined": "XP_016868949.1:p.Gln439_Arg461delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2249,
          "referenceAllele": "C",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.1315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Gln439Ter",
        "hgvsWellDefined": "XP_016868951.1:p.Gln439_Arg461delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2334,
          "referenceAllele": "C",
          "start": 2333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Gln650Ter",
        "hgvsWellDefined": "XP_024302931.1:p.Gln650_Arg672delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2330,
          "referenceAllele": "C",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Gln650Ter",
        "hgvsWellDefined": "XP_024302932.1:p.Gln650_Arg672delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2379,
          "referenceAllele": "C",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.1315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Gln439Ter",
        "hgvsWellDefined": "XP_024302933.1:p.Gln439_Arg461delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658672219",
      "coordinates": [
        {
          "allele": "T",
          "end": 2300,
          "referenceAllele": "C",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.2194C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Gln732Ter",
        "hgvsWellDefined": "NP_002476.2:p.Gln732_Arg754delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.2194C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.2194C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Gln732Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Gln732Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335961",
      "coordinates": [
        {
          "allele": "T",
          "end": 2350,
          "referenceAllele": "C",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Gln650Ter",
        "hgvsWellDefined": "NP_001019859.1:p.Gln650_Arg672delinsHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}