{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA299592",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.-26G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180309[alleleid]",
        "alleleId": 180309,
        "preferredName": "NM_002485.5(NBN):c.-26G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/182712",
        "RCV": [
          "RCV000160779",
          "RCV000352846",
          "RCV003482133"
        ],
        "variationId": 182712
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-90996815-C-T",
        "id": "8-90996815-C-T",
        "variant": "8:90996815 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90996815C>T?assembly=hg19",
        "id": "chr8:g.90996815C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89984587C>T?assembly=hg38",
        "id": "chr8:g.89984587C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201392451",
        "rs": 201392451
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-90996815-C-T?dataset=gnomad_r2_1",
        "id": "8-90996815-C-T",
        "variant": "8:90996815 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89984587-C-T?dataset=gnomad_r3",
        "id": "8-89984587-C-T",
        "variant": "8:89984587 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89984587-C-T?dataset=gnomad_r4",
        "id": "8-89984587-C-T",
        "variant": "8:89984587 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 89984587,
          "referenceAllele": "C",
          "start": 89984586
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89984587C>T",
        "CM000670.2:g.89984587C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 90996815,
          "referenceAllele": "C",
          "start": 90996814
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90996815C>T",
        "CM000670.1:g.90996815C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 91065991,
          "referenceAllele": "C",
          "start": 91065990
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91065991C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5085,
          "referenceAllele": "G",
          "start": 5084
        }
      ],
      "hgvs": [
        "NG_008860.1:g.5085G>A",
        "LRG_158:g.5085G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79,
          "referenceAllele": "G",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.79G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.-322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:n.-322G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "referenceAllele": "G",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "G",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12,
          "referenceAllele": "G",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 62,
          "referenceAllele": "G",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79,
          "referenceAllele": "G",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.81G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.-505G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:n.-505G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.-138G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:n.-138G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.-322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.-322G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.-322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.-322G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "G",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "G",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "G",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "G",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "referenceAllele": "G",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "G",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "referenceAllele": "G",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.87G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "referenceAllele": "G",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.87G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "G",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "referenceAllele": "G",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.96G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "G",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.85G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "referenceAllele": "G",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.87G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.-26G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.-26G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:n.-26G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:n.-26G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130,
          "referenceAllele": "G",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 321,
          "referenceAllele": "G",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79,
          "referenceAllele": "G",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.1:n.79G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33,
          "referenceAllele": "G",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000519426.5:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430983.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33,
          "referenceAllele": "G",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 138,
          "referenceAllele": "G",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.-322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:n.-322G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "G",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.-26G>A",
        "LRG_158t1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517046.1:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515348.1:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "G",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.112G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 29,
          "referenceAllele": "G",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.-1045G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:n.-1045G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 84,
          "referenceAllele": "G",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.-851G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:n.-851G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70,
          "referenceAllele": "G",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.-995G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:n.-995G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.-26G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:n.-26G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.-26G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.-26G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:n.-26G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:n.-26G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.-322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:n.-322G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}