{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371675821",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.2089G>T (p.Gly697Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061422[alleleid]",
        "alleleId": 1061422,
        "preferredName": "NM_002485.5(NBN):c.2089G>T (p.Gly697Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1074632",
        "RCV": [
          "RCV001387991"
        ],
        "variationId": 1074632
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90955576C>A?assembly=hg19",
        "id": "chr8:g.90955576C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89943348C>A?assembly=hg38",
        "id": "chr8:g.89943348C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1038132485",
        "rs": 1038132485
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 89943348,
          "referenceAllele": "C",
          "start": 89943347
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89943348C>A",
        "CM000670.2:g.89943348C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 90955576,
          "referenceAllele": "C",
          "start": 90955575
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90955576C>A",
        "CM000670.1:g.90955576C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 91024752,
          "referenceAllele": "C",
          "start": 91024751
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91024752C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46324,
          "referenceAllele": "G",
          "start": 46323
        }
      ],
      "hgvs": [
        "NG_008860.1:g.46324G>T",
        "LRG_158:g.46324G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3391,
          "referenceAllele": "G",
          "start": 3390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.3391G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2137,
          "referenceAllele": "G",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Gly615Ter",
        "hgvsWellDefined": "ENSP00000429971.2:p.Gly615_Arg672delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "G",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Gly615Ter",
        "hgvsWellDefined": "ENSP00000428252.2:p.Gly615_Arg672delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2210,
          "referenceAllele": "G",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.2089G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Gly697Ter",
        "hgvsWellDefined": "ENSP00000513229.1:p.Gly697_Arg754delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2199,
          "referenceAllele": "G",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.2089G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Gly697Ter",
        "hgvsWellDefined": "ENSP00000513230.1:p.Gly697_Arg771delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluLeuProPheTyrCysPheProHisTyrLeuLeuLeuGluPheGlnLeuAsnValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2175,
          "referenceAllele": "G",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*1700G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*1700G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1629,
          "referenceAllele": "G",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*1398G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*1398G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2044,
          "referenceAllele": "G",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*1757G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*1757G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3874,
          "referenceAllele": "G",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.3874G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2428,
          "referenceAllele": "G",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Gly615Ter",
        "hgvsWellDefined": "ENSP00000513234.1:p.Gly615_Arg672delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2061,
          "referenceAllele": "G",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Gly615Ter",
        "hgvsWellDefined": "ENSP00000513235.1:p.Gly615_Arg672delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2335,
          "referenceAllele": "G",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*1693G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*1693G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2204,
          "referenceAllele": "G",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*1610G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*1610G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2154,
          "referenceAllele": "G",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*1610G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*1610G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2285,
          "referenceAllele": "G",
          "start": 2284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*1693G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*1693G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1887,
          "referenceAllele": "G",
          "start": 1886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.1777G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Gly593Ter",
        "hgvsWellDefined": "ENSP00000513240.1:p.Gly593_Arg650delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2356,
          "referenceAllele": "G",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697305.1:n.2356G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3232,
          "referenceAllele": "G",
          "start": 3231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*2640G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*2640G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1974,
          "referenceAllele": "G",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.1864G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:p.Gly622Ter",
        "hgvsWellDefined": "ENSP00000513242.1:p.Gly622_Arg679delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2130,
          "referenceAllele": "G",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.2020G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Gly674Ter",
        "hgvsWellDefined": "ENSP00000513243.1:p.Gly674_Arg731delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2199,
          "referenceAllele": "G",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.2089G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Gly697Ter",
        "hgvsWellDefined": "ENSP00000513244.1:p.Gly697_Lys782delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluIleGlnSerLeuPheLysLysGluLysIleThrGluAspPheLysLysLysProTrpLysAsnPheLeuValSerIleTyrPheArgProThrArgLeuTyrGluTyrIleValTyrArgSerAspLeuSerTyrAsnValLeuTrpProLysPheIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2210,
          "referenceAllele": "G",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.2089G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Gly697Ter",
        "hgvsWellDefined": "ENSP00000513245.1:p.Gly697_Arg754delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2199,
          "referenceAllele": "G",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.2089G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Gly697Ter",
        "hgvsWellDefined": "ENSP00000513246.1:p.Gly697_Lys732delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValSerArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2091,
          "referenceAllele": "G",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*1487G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*1487G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2687,
          "endIntronDirection": "-",
          "endIntronOffset": 7735,
          "referenceAllele": "G",
          "start": 2687,
          "startIntronDirection": "-",
          "startIntronOffset": 7736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2688-7736G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3636,
          "endIntronDirection": "-",
          "endIntronOffset": 7735,
          "referenceAllele": "G",
          "start": 3636,
          "startIntronDirection": "-",
          "startIntronOffset": 7736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3637-7736G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2199,
          "referenceAllele": "G",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.2089G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Gly697Ter",
        "hgvsWellDefined": "ENSP00000513248.1:p.Gly697_Gly734delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluSerProArgArgGlyGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2210,
          "referenceAllele": "G",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.2210G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2195,
          "referenceAllele": "G",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.2089G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Gly697Ter",
        "hgvsWellDefined": "ENSP00000265433.4:p.Gly697_Arg754delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.2089G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.2089G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Gly697Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Gly697Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2244,
          "referenceAllele": "G",
          "start": 2243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.2089G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Gly697Ter",
        "hgvsWellDefined": "ENSP00000265433.3:p.Gly697_Arg754delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2485,
          "referenceAllele": "G",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*1962G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*1962G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2249,
          "referenceAllele": "G",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Gly615Ter",
        "hgvsWellDefined": "ENSP00000386924.1:p.Gly615_Arg672delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 199,
          "referenceAllele": "G",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000613033.1:c.199G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484487.1:p.Gly67Ter",
        "hgvsWellDefined": "ENSP00000484487.1:p.Gly67_Arg124delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335849",
      "coordinates": [
        {
          "allele": "T",
          "end": 2302,
          "referenceAllele": "G",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Gly615Ter",
        "hgvsWellDefined": "NP_001019859.1:p.Gly615_Arg672delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499261747",
      "coordinates": [
        {
          "allele": "T",
          "end": 2199,
          "referenceAllele": "G",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.2089G>T",
        "LRG_158t1:c.2089G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Gly697Ter",
        "hgvsWellDefined": "NP_002476.2:p.Gly697_Arg754delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2080,
          "referenceAllele": "G",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.2065G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Gly689Ter",
        "hgvsWellDefined": "XP_011515346.1:p.Gly689_Arg746delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2132,
          "referenceAllele": "G",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Gly615Ter",
        "hgvsWellDefined": "XP_011515347.1:p.Gly615_Arg672delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2283,
          "referenceAllele": "G",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.1210G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Gly404Ter",
        "hgvsWellDefined": "XP_016868949.1:p.Gly404_Arg461delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2144,
          "referenceAllele": "G",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.1210G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Gly404Ter",
        "hgvsWellDefined": "XP_016868951.1:p.Gly404_Arg461delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2229,
          "referenceAllele": "G",
          "start": 2228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Gly615Ter",
        "hgvsWellDefined": "XP_024302931.1:p.Gly615_Arg672delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2225,
          "referenceAllele": "G",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Gly615Ter",
        "hgvsWellDefined": "XP_024302932.1:p.Gly615_Arg672delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2274,
          "referenceAllele": "G",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.1210G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Gly404Ter",
        "hgvsWellDefined": "XP_024302933.1:p.Gly404_Arg461delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499261747",
      "coordinates": [
        {
          "allele": "T",
          "end": 2195,
          "referenceAllele": "G",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.2089G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Gly697Ter",
        "hgvsWellDefined": "NP_002476.2:p.Gly697_Arg754delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.2089G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.2089G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Gly697Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Gly697Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825335849",
      "coordinates": [
        {
          "allele": "T",
          "end": 2245,
          "referenceAllele": "G",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Gly615Ter",
        "hgvsWellDefined": "NP_001019859.1:p.Gly615_Arg672delinsLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}