{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA196631",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.8786+1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183455[alleleid]",
        "alleleId": 183455,
        "preferredName": "NM_000051.4(ATM):c.8786+1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187060",
        "RCV": [
          "RCV000166748",
          "RCV000196816",
          "RCV000254910",
          "RCV003162711",
          "RCV003468793"
        ],
        "variationId": 187060
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108224608G>C?assembly=hg19",
        "id": "chr11:g.108224608G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108353881G>C?assembly=hg38",
        "id": "chr11:g.108353881G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/17174393",
        "rs": 17174393
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 108353881,
          "referenceAllele": "G",
          "start": 108353880
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108353881G>C",
        "CM000673.2:g.108353881G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 108224608,
          "referenceAllele": "G",
          "start": 108224607
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108224608G>C",
        "CM000673.1:g.108224608G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 107729818,
          "referenceAllele": "G",
          "start": 107729817
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107729818G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 136050,
          "referenceAllele": "G",
          "start": 136049
        }
      ],
      "hgvs": [
        "NG_009830.1:g.136050G>C",
        "LRG_135:g.136050G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 120952,
          "referenceAllele": "C",
          "start": 120951
        }
      ],
      "hgvs": [
        "NG_054724.1:g.120952C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617495"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9268,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9268,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8914,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8914,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*8257+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*8257+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9092,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9092,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1484,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1484,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000638786.2:n.1484+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3543,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3543,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682286.1:n.3543+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3204,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3204,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682302.1:n.3204+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827296"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10270,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 10270,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.10270+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4010,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4010,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683524.1:n.4010+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828498"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4202,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4202,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684152.1:n.4202+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1260,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1260,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684180.1:n.1260+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829138"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5279,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5279,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684447.1:n.5279+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8637,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8637,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.*3850+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:n.*3850+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8691,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8691,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.*3921+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:n.*3921+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8936,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8936,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.8786+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.8786+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:n.8786+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:n.8786+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9171,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9171,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8975,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8975,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 226,
          "endIntronDirection": "-",
          "endIntronOffset": 18588,
          "referenceAllele": "C",
          "start": 226,
          "startIntronDirection": "-",
          "startIntronOffset": 18589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000524755.5:c.227-18589C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5001,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 5001,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000524792.5:n.5001+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 274,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 274,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525178.5:n.274+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "endIntronDirection": "+",
          "endIntronOffset": 32039,
          "referenceAllele": "C",
          "start": 710,
          "startIntronDirection": "+",
          "startIntronOffset": 32038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000525729.5:c.640+32039C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433395.1:n.640+32039C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 13516,
          "referenceAllele": "C",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 13517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000526725.1:n.272-13517C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 125,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527181.1:n.125+1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2241,
          "endIntronDirection": "+",
          "endIntronOffset": 1034,
          "referenceAllele": "C",
          "start": 2241,
          "startIntronDirection": "+",
          "startIntronOffset": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000527531.5:c.*1196+1034C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431706.1:n.*1196+1034C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353218"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2271,
          "endIntronDirection": "+",
          "endIntronOffset": 1034,
          "referenceAllele": "C",
          "start": 2271,
          "startIntronDirection": "+",
          "startIntronOffset": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000615746.4:c.*1196+1034C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483537.1:n.*1196+1034C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9171,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9171,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.8786+1G>C",
        "LRG_135t1:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 18588,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 18589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271414.3:c.788-18589C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271471.1:n.788-18589C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 18588,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 18589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271415.3:c.732-18589C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271472.1:n.732-18589C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8994,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8994,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9303,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9303,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8926,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8926,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4811,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4811,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.1:c.4742+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:n.4742+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 13516,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 13517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_011542640.1:c.788-13517C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540942.1:n.788-13517C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 4807,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 4808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_011542642.1:c.732-4808C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540944.1:n.732-4808C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 13516,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 13517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_011542643.1:c.732-13517C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540945.1:n.732-13517C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9014,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9014,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9697,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9697,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8741,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8741,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.8621+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:n.8621+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8287,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8287,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.7742+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:n.7742+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7634,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7634,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.7478+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:n.7478+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3897,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3897,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542847.1:c.3857+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541149.1:n.3857+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109776"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "endIntronDirection": "+",
          "endIntronOffset": 32039,
          "referenceAllele": "C",
          "start": 710,
          "startIntronDirection": "+",
          "startIntronOffset": 32038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.1:c.640+32039C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.640+32039C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "endIntronDirection": "-",
          "endIntronOffset": 18588,
          "referenceAllele": "C",
          "start": 764,
          "startIntronDirection": "-",
          "startIntronOffset": 18589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.1:c.695-18589C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.695-18589C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519918"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9259,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9259,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2301,
          "endIntronDirection": "+",
          "endIntronOffset": 1034,
          "referenceAllele": "C",
          "start": 2301,
          "startIntronDirection": "+",
          "startIntronOffset": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NR_147053.2:n.2301+1034C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530594"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 18588,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 18589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271414.4:c.788-18589C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271471.1:n.788-18589C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 18588,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 18589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271415.4:c.732-18589C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271472.1:n.732-18589C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9305,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9305,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8938,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8938,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4812,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4812,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.2:c.4742+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:n.4742+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 13516,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 13517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_011542640.2:c.788-13517C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540942.1:n.788-13517C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 13516,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 13517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_011542643.2:c.732-13517C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540945.1:n.732-13517C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9026,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9026,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9001,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9001,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.8621+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:n.8621+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9122,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9122,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.7742+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:n.7742+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7634,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 7634,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.7478+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:n.7478+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 989,
          "endIntronDirection": "-",
          "endIntronOffset": 13516,
          "referenceAllele": "C",
          "start": 989,
          "startIntronDirection": "-",
          "startIntronOffset": 13517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_017017247.1:c.904-13517C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872736.1:n.904-13517C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9729,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9729,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9126,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9126,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 708,
          "endIntronDirection": "+",
          "endIntronOffset": 32039,
          "referenceAllele": "C",
          "start": 708,
          "startIntronDirection": "+",
          "startIntronOffset": 32038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.2:c.640+32039C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.640+32039C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "endIntronDirection": "-",
          "endIntronOffset": 18588,
          "referenceAllele": "C",
          "start": 762,
          "startIntronDirection": "-",
          "startIntronOffset": 18589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.2:c.695-18589C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.695-18589C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9024,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 9024,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8936,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 8936,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.8786+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:n.8786+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.8786+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.8786+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:n.8786+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:n.8786+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2299,
          "endIntronDirection": "+",
          "endIntronOffset": 1034,
          "referenceAllele": "C",
          "start": 2299,
          "startIntronDirection": "+",
          "startIntronOffset": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NR_147053.3:n.2299+1034C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731368"
    }
  ],
  "type": "nucleotide"
}