{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041202",
  "communityStandardTitle": [
    "NM_002485.5(NBN):c.2049_2050delinsT (p.Lys683AsnfsTer26)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357658[alleleid]",
        "alleleId": 357658,
        "preferredName": "NM_002485.5(NBN):c.2049_2050delinsT (p.Lys683fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370922",
        "RCV": [
          "RCV000410853"
        ],
        "variationId": 370922
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.90958388_90958389delinsA?assembly=hg19",
        "id": "chr8:g.90958388_90958389delinsA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.89946160_89946161delinsA?assembly=hg38",
        "id": "chr8:g.89946160_89946161delinsA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516869",
        "rs": 1057516869
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 89946161,
          "referenceAllele": "TT",
          "start": 89946159
        }
      ],
      "hgvs": [
        "NC_000008.11:g.89946160_89946161delinsA",
        "CM000670.2:g.89946160_89946161delinsA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 90958389,
          "referenceAllele": "TT",
          "start": 90958387
        }
      ],
      "hgvs": [
        "NC_000008.10:g.90958388_90958389delinsA",
        "CM000670.1:g.90958388_90958389delinsA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 91027565,
          "referenceAllele": "TT",
          "start": 91027563
        }
      ],
      "hgvs": [
        "NC_000008.9:g.91027564_91027565delinsA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43512,
          "referenceAllele": "AA",
          "start": 43510
        }
      ],
      "hgvs": [
        "NG_008860.1:g.43511_43512delinsT",
        "LRG_158:g.43511_43512delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001255"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3352,
          "referenceAllele": "AA",
          "start": 3350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000494804.2:n.3351_3352delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2098,
          "referenceAllele": "AA",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000517337.2:c.1803_1804delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429971.2:p.Lys601AsnfsTer26",
        "hgvsWellDefined": "ENSP00000429971.2:p.[Lys601del;Phe603_Lys607delinsIleSerArgAsnSer;Val609_Pro618delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile620_Ser624delinsThrSerLeuGlu;Leu626Gln;Ala628_Ala631del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2263,
          "referenceAllele": "AA",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000523444.2:c.1803_1804delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428252.2:p.Lys601AsnfsTer26",
        "hgvsWellDefined": "ENSP00000428252.2:p.[Lys601del;Phe603_Lys607delinsIleSerArgAsnSer;Val609_Pro618delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile620_Ser624delinsThrSerLeuGlu;Leu626Gln;Ala628_Ala631del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2171,
          "referenceAllele": "AA",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697292.1:c.2049_2050delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513229.1:p.Lys683AsnfsTer26",
        "hgvsWellDefined": "ENSP00000513229.1:p.[Lys683del;Phe685_Lys689delinsIleSerArgAsnSer;Val691_Pro700delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile702_Ser706delinsThrSerLeuGlu;Leu708Gln;Ala710_Ala713del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2160,
          "referenceAllele": "AA",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697293.1:c.2049_2050delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513230.1:p.Lys683AsnfsTer26",
        "hgvsWellDefined": "ENSP00000513230.1:p.[Lys683del;Phe685_Lys689delinsIleSerArgAsnSer;Val691_Pro700delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile702_Ser706delinsThrSerLeuGlu;Leu708Gln;Ala710_Ala713del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2136,
          "referenceAllele": "AA",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697294.1:c.*1660_*1661delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513231.1:n.*1660_*1661delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1590,
          "referenceAllele": "AA",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697295.1:c.*1358_*1359delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513232.1:n.*1358_*1359delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2005,
          "referenceAllele": "AA",
          "start": 2003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697296.1:c.*1717_*1718delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513233.1:n.*1717_*1718delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3835,
          "referenceAllele": "AA",
          "start": 3833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697297.1:n.3834_3835delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2389,
          "referenceAllele": "AA",
          "start": 2387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697298.1:c.1803_1804delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513234.1:p.Lys601AsnfsTer26",
        "hgvsWellDefined": "ENSP00000513234.1:p.[Lys601del;Phe603_Lys607delinsIleSerArgAsnSer;Val609_Pro618delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile620_Ser624delinsThrSerLeuGlu;Leu626Gln;Ala628_Ala631del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2022,
          "referenceAllele": "AA",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697299.1:c.1803_1804delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513235.1:p.Lys601AsnfsTer26",
        "hgvsWellDefined": "ENSP00000513235.1:p.[Lys601del;Phe603_Lys607delinsIleSerArgAsnSer;Val609_Pro618delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile620_Ser624delinsThrSerLeuGlu;Leu626Gln;Ala628_Ala631del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2296,
          "referenceAllele": "AA",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697300.1:c.*1653_*1654delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513236.1:n.*1653_*1654delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2165,
          "referenceAllele": "AA",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697301.1:c.*1570_*1571delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513237.1:n.*1570_*1571delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2115,
          "referenceAllele": "AA",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697302.1:c.*1570_*1571delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513238.1:n.*1570_*1571delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2246,
          "referenceAllele": "AA",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697303.1:c.*1653_*1654delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513239.1:n.*1653_*1654delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1848,
          "referenceAllele": "AA",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697304.1:c.1737_1738delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513240.1:p.Lys579AsnfsTer26",
        "hgvsWellDefined": "ENSP00000513240.1:p.[Lys579del;Phe581_Lys585delinsIleSerArgAsnSer;Val587_Pro596delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile598_Ser602delinsThrSerLeuGlu;Leu604Gln;Ala606_Ala609del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3193,
          "referenceAllele": "AA",
          "start": 3191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697306.1:c.*2600_*2601delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513241.1:n.*2600_*2601delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1955,
          "endIntronDirection": "-",
          "endIntronOffset": 2793,
          "referenceAllele": "AA",
          "start": 1955,
          "startIntronDirection": "-",
          "startIntronOffset": 2795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697307.1:c.1846-2795_1846-2794delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513242.1:n.1846-2795_1846-2794delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2091,
          "referenceAllele": "AA",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697308.1:c.1980_1981delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513243.1:p.Lys660AsnfsTer26",
        "hgvsWellDefined": "ENSP00000513243.1:p.[Lys660del;Phe662_Lys666delinsIleSerArgAsnSer;Val668_Pro677delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile679_Ser683delinsThrSerLeuGlu;Leu685Gln;Ala687_Ala690del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2160,
          "referenceAllele": "AA",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697309.1:c.2049_2050delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513244.1:p.Lys683AsnfsTer26",
        "hgvsWellDefined": "ENSP00000513244.1:p.[Lys683del;Phe685_Lys689delinsIleSerArgAsnSer;Val691_Pro700delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile702_Ser706delinsThrSerLeuGlu;Leu708Gln;Ala710_Ala713del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2171,
          "referenceAllele": "AA",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697310.1:c.2049_2050delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513245.1:p.Lys683AsnfsTer26",
        "hgvsWellDefined": "ENSP00000513245.1:p.[Lys683del;Phe685_Lys689delinsIleSerArgAsnSer;Val691_Pro700delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile702_Ser706delinsThrSerLeuGlu;Leu708Gln;Ala710_Ala713del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2160,
          "referenceAllele": "AA",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697311.1:c.2049_2050delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513246.1:p.Lys683AsnfsTer26",
        "hgvsWellDefined": "ENSP00000513246.1:p.[Lys683del;Phe685_Lys689delinsIleSerArgAsnSer;Val691_Pro700delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile702_Ser706delinsThrSerLeuGlu;Leu708Gln;Ala710_Ala713del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2052,
          "referenceAllele": "AA",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697312.1:c.*1447_*1448delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513247.1:n.*1447_*1448delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2687,
          "endIntronDirection": "-",
          "endIntronOffset": 10547,
          "referenceAllele": "AA",
          "start": 2687,
          "startIntronDirection": "-",
          "startIntronOffset": 10549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697313.1:n.2688-10549_2688-10548delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3636,
          "endIntronDirection": "+",
          "endIntronOffset": 7084,
          "referenceAllele": "AA",
          "start": 3636,
          "startIntronDirection": "+",
          "startIntronOffset": 7082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697314.1:n.3636+7083_3636+7084delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2160,
          "referenceAllele": "AA",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697315.1:c.2049_2050delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513248.1:p.Lys683AsnfsTer26",
        "hgvsWellDefined": "ENSP00000513248.1:p.[Lys683del;Phe685_Lys689delinsIleSerArgAsnSer;Val691_Pro700delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile702_Ser706delinsThrSerLeuGlu;Leu708Gln;Ala710_Ala713del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2171,
          "referenceAllele": "AA",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697316.1:n.2170_2171delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2141,
          "referenceAllele": "AA",
          "start": 2139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000697317.1:n.2140_2141delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2156,
          "referenceAllele": "AA",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.8:c.2049_2050delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.4:p.Lys683AsnfsTer26",
        "hgvsWellDefined": "ENSP00000265433.4:p.[Lys683del;Phe685_Lys689delinsIleSerArgAsnSer;Val691_Pro700delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile702_Ser706delinsThrSerLeuGlu;Leu708Gln;Ala710_Ala713del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742836",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.2049_2050delinsT"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.2049_2050delinsT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Lys683AsnfsTer26"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Lys683AsnfsTer26"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2205,
          "referenceAllele": "AA",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000265433.7:c.2049_2050delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265433.3:p.Lys683AsnfsTer26",
        "hgvsWellDefined": "ENSP00000265433.3:p.[Lys683del;Phe685_Lys689delinsIleSerArgAsnSer;Val691_Pro700delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile702_Ser706delinsThrSerLeuGlu;Leu708Gln;Ala710_Ala713del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2446,
          "referenceAllele": "AA",
          "start": 2444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000396252.6:c.*1922_*1923delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379551.2:n.*1922_*1923delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2210,
          "referenceAllele": "AA",
          "start": 2208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000409330.5:c.1803_1804delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386924.1:p.Lys601AsnfsTer26",
        "hgvsWellDefined": "ENSP00000386924.1:p.[Lys601del;Phe603_Lys607delinsIleSerArgAsnSer;Val609_Pro618delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile620_Ser624delinsThrSerLeuGlu;Leu626Gln;Ala628_Ala631del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "AA",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000520325.1:n.465_466delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 1664,
          "referenceAllele": "AA",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "ENST00000613033.1:c.180+1663_180+1664delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484487.1:n.180+1663_180+1664delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2263,
          "referenceAllele": "AA",
          "start": 2261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.2:c.1803_1804delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Lys601AsnfsTer26",
        "hgvsWellDefined": "NP_001019859.1:p.[Lys601del;Phe603_Lys607delinsIleSerArgAsnSer;Val609_Pro618delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile620_Ser624delinsThrSerLeuGlu;Leu626Gln;Ala628_Ala631del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2160,
          "referenceAllele": "AA",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.4:c.2049_2050delinsT",
        "LRG_158t1:c.2049_2050delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Lys683AsnfsTer26",
        "hgvsWellDefined": "NP_002476.2:p.[Lys683del;Phe685_Lys689delinsIleSerArgAsnSer;Val691_Pro700delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile702_Ser706delinsThrSerLeuGlu;Leu708Gln;Ala710_Ala713del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2041,
          "referenceAllele": "AA",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517044.1:c.2025_2026delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515346.1:p.Lys675AsnfsTer26",
        "hgvsWellDefined": "XP_011515346.1:p.[Lys675del;Phe677_Lys681delinsIleSerArgAsnSer;Val683_Pro692delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile694_Ser698delinsThrSerLeuGlu;Leu700Gln;Ala702_Ala705del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2093,
          "referenceAllele": "AA",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_011517045.1:c.1803_1804delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515347.1:p.Lys601AsnfsTer26",
        "hgvsWellDefined": "XP_011515347.1:p.[Lys601del;Phe603_Lys607delinsIleSerArgAsnSer;Val609_Pro618delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile620_Ser624delinsThrSerLeuGlu;Leu626Gln;Ala628_Ala631del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2244,
          "referenceAllele": "AA",
          "start": 2242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013460.1:c.1170_1171delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868949.1:p.Lys390AsnfsTer26",
        "hgvsWellDefined": "XP_016868949.1:p.[Lys390del;Phe392_Lys396delinsIleSerArgAsnSer;Val398_Pro407delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile409_Ser413delinsThrSerLeuGlu;Leu415Gln;Ala417_Ala420del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "AA",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_017013462.2:c.1170_1171delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868951.1:p.Lys390AsnfsTer26",
        "hgvsWellDefined": "XP_016868951.1:p.[Lys390del;Phe392_Lys396delinsIleSerArgAsnSer;Val398_Pro407delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile409_Ser413delinsThrSerLeuGlu;Leu415Gln;Ala417_Ala420del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2190,
          "referenceAllele": "AA",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447163.1:c.1803_1804delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302931.1:p.Lys601AsnfsTer26",
        "hgvsWellDefined": "XP_024302931.1:p.[Lys601del;Phe603_Lys607delinsIleSerArgAsnSer;Val609_Pro618delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile620_Ser624delinsThrSerLeuGlu;Leu626Gln;Ala628_Ala631del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2186,
          "referenceAllele": "AA",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447164.1:c.1803_1804delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302932.1:p.Lys601AsnfsTer26",
        "hgvsWellDefined": "XP_024302932.1:p.[Lys601del;Phe603_Lys607delinsIleSerArgAsnSer;Val609_Pro618delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile620_Ser624delinsThrSerLeuGlu;Leu626Gln;Ala628_Ala631del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2235,
          "referenceAllele": "AA",
          "start": 2233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "XM_024447165.1:c.1170_1171delinsT"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302933.1:p.Lys390AsnfsTer26",
        "hgvsWellDefined": "XP_024302933.1:p.[Lys390del;Phe392_Lys396delinsIleSerArgAsnSer;Val398_Pro407delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile409_Ser413delinsThrSerLeuGlu;Leu415Gln;Ala417_Ala420del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2156,
          "referenceAllele": "AA",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_002485.5:c.2049_2050delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_002476.2:p.Lys683AsnfsTer26",
        "hgvsWellDefined": "NP_002476.2:p.[Lys683del;Phe685_Lys689delinsIleSerArgAsnSer;Val691_Pro700delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile702_Ser706delinsThrSerLeuGlu;Leu708Gln;Ala710_Ala713del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695554",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265433.8:c.2049_2050delinsT"
          },
          "RefSeq": {
            "hgvs": "NM_002485.5:c.2049_2050delinsT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265433.4:p.Lys683AsnfsTer26"
          },
          "RefSeq": {
            "hgvs": "NP_002476.2:p.Lys683AsnfsTer26"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2206,
          "referenceAllele": "AA",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NM_001024688.3:c.1803_1804delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019859.1:p.Lys601AsnfsTer26",
        "hgvsWellDefined": "NP_001019859.1:p.[Lys601del;Phe603_Lys607delinsIleSerArgAsnSer;Val609_Pro618delinsArgSerHisIleLeuGluGlnGluAsnPhe;Ile620_Ser624delinsThrSerLeuGlu;Leu626Gln;Ala628_Ala631del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711440"
    }
  ],
  "type": "nucleotide"
}