{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA856704671",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.2071-8T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=695397[alleleid]",
        "alleleId": 695397,
        "preferredName": "NM_002485.5(NBN):c.2071-8T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/705372",
        "RCV": [
          "RCV000875631"
        ],
        "variationId": 705372
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90955602A>G?assembly=hg19",
        "id": "chr8:g.90955602A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89943374A>G?assembly=hg38",
        "id": "chr8:g.89943374A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1178683426",
        "rs": 1178683426
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89943374-A-G?dataset=gnomad_r4",
        "id": "8-89943374-A-G",
        "variant": "8:89943374 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 89943374,
          "referenceAllele": "A",
          "start": 89943373
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89943374A>G",
        "CM000670.2:g.89943374A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 90955602,
          "referenceAllele": "A",
          "start": 90955601
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90955602A>G",
        "CM000670.1:g.90955602A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 91024778,
          "referenceAllele": "A",
          "start": 91024777
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91024778A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 46298,
          "referenceAllele": "T",
          "start": 46297
        }
      ],
      "hgvs": [
        "NG_008860.1:g.46298T>C",
        "LRG_158:g.46298T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3372,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 3372,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.3373-8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2118,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2118,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.1825-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:n.1825-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2283,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2283,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.1825-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:n.1825-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2191,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2191,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.2071-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:n.2071-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2180,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2180,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.2071-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:n.2071-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2156,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2156,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*1682-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*1682-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1610,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 1610,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*1380-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*1380-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2025,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2025,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*1739-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*1739-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3855,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 3855,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.3856-8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2409,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2409,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.1825-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:n.1825-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2042,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2042,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.1825-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:n.1825-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2316,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2316,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*1675-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*1675-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2185,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2185,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*1592-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*1592-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2135,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2135,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*1592-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*1592-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2266,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2266,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*1675-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*1675-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1868,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 1868,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.1759-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:n.1759-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2330,
          "referenceAllele": "T",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697305.1:n.2330T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3213,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 3213,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*2622-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*2622-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1955,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 1955,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.1846-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:n.1846-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2111,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2111,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.2002-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:n.2002-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2180,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2180,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.2071-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:n.2071-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2191,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2191,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.2071-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:n.2071-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2180,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2180,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.2071-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:n.2071-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2072,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2072,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*1469-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*1469-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2687,
          "endIntronDirection": "-",
          "endIntronOffset": 7761,
          "referenceAllele": "T",
          "start": 2687,
          "startIntronDirection": "-",
          "startIntronOffset": 7762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2688-7762T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3636,
          "endIntronDirection": "-",
          "endIntronOffset": 7761,
          "referenceAllele": "T",
          "start": 3636,
          "startIntronDirection": "-",
          "startIntronOffset": 7762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3637-7762T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2180,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2180,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.2071-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:n.2071-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2191,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2191,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.2192-8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2176,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2176,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.2071-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:n.2071-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.2071-8T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.2071-8T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:n.2071-8T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:n.2071-8T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2225,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2225,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.2071-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:n.2071-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2466,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2466,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*1944-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*1944-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2230,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2230,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.1825-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:n.1825-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 486,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 486,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000520325.1:n.487-8T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 180,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 180,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000613033.1:c.181-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484487.1:n.181-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2283,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2283,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.1825-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:n.1825-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2180,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2180,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.2071-8T>C",
        "LRG_158t1:c.2071-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:n.2071-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2061,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2061,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.2047-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:n.2047-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2113,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2113,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.1825-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:n.1825-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2264,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2264,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.1192-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:n.1192-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2125,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2125,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.1192-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:n.1192-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2210,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2210,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.1825-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:n.1825-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2206,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2206,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.1825-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:n.1825-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2255,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2255,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.1192-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:n.1192-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2176,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2176,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.2071-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:n.2071-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.2071-8T>C"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.2071-8T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:n.2071-8T>C"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:n.2071-8T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2226,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "T",
          "start": 2226,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.1825-8T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:n.1825-8T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}