{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371663768",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.38-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=905986[alleleid]",
        "alleleId": 905986,
        "preferredName": "NM_002485.5(NBN):c.38-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/917663",
        "RCV": [
          "RCV001174785"
        ],
        "variationId": 917663
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90995084C>T?assembly=hg19",
        "id": "chr8:g.90995084C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89982856C>T?assembly=hg38",
        "id": "chr8:g.89982856C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1812140936",
        "rs": 1812140936
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-89982856-C-T?dataset=gnomad_r4",
        "id": "8-89982856-C-T",
        "variant": "8:89982856 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 89982856,
          "referenceAllele": "C",
          "start": 89982855
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89982856C>T",
        "CM000670.2:g.89982856C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 90995084,
          "referenceAllele": "C",
          "start": 90995083
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90995084C>T",
        "CM000670.1:g.90995084C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 91064260,
          "referenceAllele": "C",
          "start": 91064259
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91064260C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6816,
          "referenceAllele": "G",
          "start": 6815
        }
      ],
      "hgvs": [
        "NG_008860.1:g.6816G>A",
        "LRG_158:g.6816G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 141,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 141,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.142-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 35,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.-259-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:n.-259-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.-259-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:n.-259-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 74,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 74,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "endIntronDirection": "+",
          "endIntronOffset": 1669,
          "referenceAllele": "G",
          "start": 124,
          "startIntronDirection": "+",
          "startIntronOffset": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.37+1669G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.37+1669G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 141,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 141,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.144-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 326,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 326,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.-259-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:n.-259-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "-",
          "endIntronOffset": 1332,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "-",
          "startIntronOffset": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.-75-1333G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:n.-75-1333G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.-259-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.-259-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.-259-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.-259-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 149,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 149,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.150-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 149,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 149,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.150-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.159-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.148-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 149,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 149,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697318.1:n.150-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.38-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.38-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:n.38-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:n.38-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 192,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 192,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 383,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 197,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.-209-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:n.-209-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 141,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 141,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.1:n.142-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.1:c.-259-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.1:n.-259-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 95,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000519426.5:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430983.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346672"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 95,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.-259-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:n.-259-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.38-1G>A",
        "LRG_158t1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 28,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 28,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.14-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:n.14-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 30,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.-259-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:n.-259-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 174,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 174,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517046.1:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515348.1:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 174,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 174,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XR_928335.1:n.175-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 91,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 91,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.-982-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:n.-982-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 146,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 146,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.-788-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:n.-788-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.-209-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:n.-209-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 132,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 132,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.-932-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:n.-932-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.38-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:n.38-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.38-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.38-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:n.38-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:n.38-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 143,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.-259-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:n.-259-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}