{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2573143360",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.995-4A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1594697[alleleid]",
        "alleleId": 1594697,
        "preferredName": "NM_002485.5(NBN):c.995-4A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1623930",
        "RCV": [
          "RCV002113593"
        ],
        "variationId": 1623930
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2129747280",
        "rs": 2129747280
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 89958858,
          "referenceAllele": "T",
          "start": 89958857
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89958858T>C",
        "CM000670.2:g.89958858T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 90971086,
          "referenceAllele": "T",
          "start": 90971085
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90971086T>C",
        "CM000670.1:g.90971086T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 91040262,
          "referenceAllele": "T",
          "start": 91040261
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91040262T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30814,
          "referenceAllele": "A",
          "start": 30813
        }
      ],
      "hgvs": [
        "NG_008860.1:g.30814A>G",
        "LRG_158:g.30814A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2296,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 2296,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.2297-4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1042,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1042,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.749-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:n.749-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1207,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1207,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.749-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:n.749-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1115,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.995-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:n.995-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.995-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:n.995-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1080,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1080,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*606-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*606-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 534,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 534,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*304-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*304-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 949,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 949,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*663-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*663-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2779,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 2779,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.2780-4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1333,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1333,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.749-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:n.749-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 966,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 966,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.749-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:n.749-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1240,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1240,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*599-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*599-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1109,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1109,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*516-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*516-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1059,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1059,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*516-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*516-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1190,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1190,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*599-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*599-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 792,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 792,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.683-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:n.683-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 586,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.481-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.481-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.995-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:n.995-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.995-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:n.995-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.995-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:n.995-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1115,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.995-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:n.995-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.995-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:n.995-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 996,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 996,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*393-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*393-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2687,
          "endIntronDirection": "+",
          "endIntronOffset": 11506,
          "referenceAllele": "A",
          "start": 2687,
          "startIntronDirection": "+",
          "startIntronOffset": 11505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2687+11506A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2785,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 2785,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.2786-4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.995-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:n.995-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1115,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.1116-4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.1105-4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1106,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.1107-4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1100,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1100,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.995-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:n.995-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.995-4A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.995-4A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:n.995-4A>G"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:n.995-4A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1149,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1149,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.995-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:n.995-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1390,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1390,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*868-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*868-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1154,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.749-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:n.749-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1207,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1207,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.749-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:n.749-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1104,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.995-4A>G",
        "LRG_158t1:c.995-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:n.995-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 985,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 985,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.971-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:n.971-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1037,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1037,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.749-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:n.749-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1131,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517046.1:c.995-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515348.1:n.995-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1131,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.1132-4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1188,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1188,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.116-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:n.116-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1049,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.116-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:n.116-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1134,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1134,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.749-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:n.749-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1130,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1130,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.749-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:n.749-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1179,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1179,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.116-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:n.116-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1100,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1100,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.995-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:n.995-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.995-4A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.995-4A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:n.995-4A>G"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:n.995-4A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1150,
          "endIntronDirection": "-",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1150,
          "startIntronDirection": "-",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.749-4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:n.749-4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}