{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA294439",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152255[alleleid]",
        "alleleId": 152255,
        "preferredName": "NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142541",
        "RCV": [
          "RCV000131731",
          "RCV000212067",
          "RCV000206694",
          "RCV000764944",
          "RCV001375519",
          "RCV001535788",
          "RCV003462021",
          "RCV004551267"
        ],
        "variationId": 142541
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108201014-C-T",
        "id": "11-108201014-C-T",
        "variant": "11:108201014 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108201014C>T?assembly=hg19",
        "id": "chr11:g.108201014C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108330287C>T?assembly=hg38",
        "id": "chr11:g.108330287C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201314561",
        "rs": 201314561
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108201014-C-T?dataset=gnomad_r2_1",
        "id": "11-108201014-C-T",
        "variant": "11:108201014 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108330287-C-T?dataset=gnomad_r3",
        "id": "11-108330287-C-T",
        "variant": "11:108330287 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108330287-C-T?dataset=gnomad_r4",
        "id": "11-108330287-C-T",
        "variant": "11:108330287 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108330287,
          "referenceAllele": "C",
          "start": 108330286
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108330287C>T",
        "CM000673.2:g.108330287C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108201014,
          "referenceAllele": "C",
          "start": 108201013
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108201014C>T",
        "CM000673.1:g.108201014C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 107706224,
          "referenceAllele": "C",
          "start": 107706223
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107706224C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112456,
          "referenceAllele": "C",
          "start": 112455
        }
      ],
      "hgvs": [
        "NG_009830.1:g.112456C>T",
        "LRG_135:g.112456C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 144546,
          "referenceAllele": "G",
          "start": 144545
        }
      ],
      "hgvs": [
        "NG_054724.1:g.144546G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617495"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7863,
          "referenceAllele": "C",
          "start": 7862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Arg2461Cys",
        "hgvsWellDefined": "ENSP00000388058.2:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7509,
          "referenceAllele": "C",
          "start": 7508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*6852C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*6852C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7687,
          "referenceAllele": "C",
          "start": 7686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Arg2461Cys",
        "hgvsWellDefined": "ENSP00000278616.4:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1800,
          "referenceAllele": "C",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525056.2:n.1800C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "referenceAllele": "C",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525537.3:n.338C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 218,
          "referenceAllele": "C",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000638786.2:n.218C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682286.1:n.2138C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1799,
          "referenceAllele": "C",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682302.1:n.1799C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8865,
          "referenceAllele": "C",
          "start": 8864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.8865C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2605,
          "referenceAllele": "C",
          "start": 2604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683524.1:n.2605C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3095,
          "referenceAllele": "C",
          "start": 3094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684152.1:n.3095C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1844,
          "referenceAllele": "C",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684447.1:n.1844C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7232,
          "referenceAllele": "C",
          "start": 7231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.*2445C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:n.*2445C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7286,
          "referenceAllele": "C",
          "start": 7285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.*2516C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:n.*2516C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7531,
          "referenceAllele": "C",
          "start": 7530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Arg2461Cys",
        "hgvsWellDefined": "ENSP00000501606.1:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.7381C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.7381C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Arg2461Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Arg2461Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7766,
          "referenceAllele": "C",
          "start": 7765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Arg2461Cys",
        "hgvsWellDefined": "ENSP00000278616.4:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7570,
          "referenceAllele": "C",
          "start": 7569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Arg2461Cys",
        "hgvsWellDefined": "ENSP00000388058.2:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3596,
          "referenceAllele": "C",
          "start": 3595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000524792.5:n.3596C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 21215,
          "referenceAllele": "G",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 21216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000525729.5:c.641-21216G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433395.1:n.641-21216G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2785,
          "referenceAllele": "C",
          "start": 2784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000533690.5:n.2785C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA294441",
      "coordinates": [
        {
          "allele": "T",
          "end": 7766,
          "referenceAllele": "C",
          "start": 7765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.7381C>T",
        "LRG_135t1:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Arg2461Cys",
        "hgvsWellDefined": "NP_000042.3:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7589,
          "referenceAllele": "C",
          "start": 7588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Arg2461Cys",
        "hgvsWellDefined": "XP_005271618.2:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7898,
          "referenceAllele": "C",
          "start": 7897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Arg2461Cys",
        "hgvsWellDefined": "XP_005271619.2:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7521,
          "referenceAllele": "C",
          "start": 7520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Arg2461Cys",
        "hgvsWellDefined": "XP_006718906.1:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3406,
          "referenceAllele": "C",
          "start": 3405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.1:c.3337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Arg1113Cys",
        "hgvsWellDefined": "XP_006718908.1:p.Arg1113Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7609,
          "referenceAllele": "C",
          "start": 7608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Arg2461Cys",
        "hgvsWellDefined": "XP_011541142.1:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8292,
          "referenceAllele": "C",
          "start": 8291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Arg2461Cys",
        "hgvsWellDefined": "XP_011541143.1:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7336,
          "referenceAllele": "C",
          "start": 7335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.7216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Arg2406Cys",
        "hgvsWellDefined": "XP_011541144.1:p.Arg2406Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8098,
          "referenceAllele": "C",
          "start": 8097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Arg2461Cys",
        "hgvsWellDefined": "XP_011541145.1:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6882,
          "referenceAllele": "C",
          "start": 6881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.6337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Arg2113Cys",
        "hgvsWellDefined": "XP_011541146.1:p.Arg2113Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6229,
          "referenceAllele": "C",
          "start": 6228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.6073C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Arg2025Cys",
        "hgvsWellDefined": "XP_011541147.1:p.Arg2025Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2492,
          "referenceAllele": "C",
          "start": 2491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542847.1:c.2452C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541149.1:p.Arg818Cys",
        "hgvsWellDefined": "XP_011541149.1:p.Arg818Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109776"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 21215,
          "referenceAllele": "G",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 21216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.1:c.641-21216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-21216G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 4933,
          "referenceAllele": "G",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 4932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.1:c.*38+4933G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.*38+4933G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916034333",
      "coordinates": [
        {
          "allele": "T",
          "end": 7854,
          "referenceAllele": "C",
          "start": 7853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Arg2461Cys",
        "hgvsWellDefined": "NP_001338763.1:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7900,
          "referenceAllele": "C",
          "start": 7899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Arg2461Cys",
        "hgvsWellDefined": "XP_005271619.2:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7533,
          "referenceAllele": "C",
          "start": 7532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Arg2461Cys",
        "hgvsWellDefined": "XP_006718906.1:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3407,
          "referenceAllele": "C",
          "start": 3406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.2:c.3337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Arg1113Cys",
        "hgvsWellDefined": "XP_006718908.1:p.Arg1113Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7621,
          "referenceAllele": "C",
          "start": 7620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Arg2461Cys",
        "hgvsWellDefined": "XP_011541142.1:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7596,
          "referenceAllele": "C",
          "start": 7595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.7216C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Arg2406Cys",
        "hgvsWellDefined": "XP_011541144.1:p.Arg2406Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8114,
          "referenceAllele": "C",
          "start": 8113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Arg2461Cys",
        "hgvsWellDefined": "XP_011541145.1:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7717,
          "referenceAllele": "C",
          "start": 7716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.6337C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Arg2113Cys",
        "hgvsWellDefined": "XP_011541146.1:p.Arg2113Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6229,
          "referenceAllele": "C",
          "start": 6228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.6073C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Arg2025Cys",
        "hgvsWellDefined": "XP_011541147.1:p.Arg2025Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8324,
          "referenceAllele": "C",
          "start": 8323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Arg2461Cys",
        "hgvsWellDefined": "XP_016873278.1:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7721,
          "referenceAllele": "C",
          "start": 7720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Arg2461Cys",
        "hgvsWellDefined": "XP_016873279.1:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 708,
          "endIntronDirection": "-",
          "endIntronOffset": 21215,
          "referenceAllele": "G",
          "start": 708,
          "startIntronDirection": "-",
          "startIntronOffset": 21216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.2:c.641-21216G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-21216G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "endIntronDirection": "+",
          "endIntronOffset": 4933,
          "referenceAllele": "G",
          "start": 835,
          "startIntronDirection": "+",
          "startIntronOffset": 4932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.2:c.*38+4933G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.*38+4933G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916034333",
      "coordinates": [
        {
          "allele": "T",
          "end": 7619,
          "referenceAllele": "C",
          "start": 7618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Arg2461Cys",
        "hgvsWellDefined": "NP_001338763.1:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA294441",
      "coordinates": [
        {
          "allele": "T",
          "end": 7531,
          "referenceAllele": "C",
          "start": 7530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.7381C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Arg2461Cys",
        "hgvsWellDefined": "NP_000042.3:p.Arg2461Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.7381C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.7381C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Arg2461Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Arg2461Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}