{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA289519",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.7044G>A (p.Thr2348=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM5982149"
      },
      {
        "active": false,
        "id": "COSM5982150"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=140132[alleleid]",
        "alleleId": 140132,
        "preferredName": "NM_000051.4(ATM):c.7044G>A (p.Thr2348=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/136429",
        "RCV": [
          "RCV000123712",
          "RCV000212057",
          "RCV000196795",
          "RCV003492555",
          "RCV004546434",
          "RCV003315830"
        ],
        "variationId": 136429
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108198440-G-A",
        "id": "11-108198440-G-A",
        "variant": "11:108198440 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108198440G>A?assembly=hg19",
        "id": "chr11:g.108198440G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108327713G>A?assembly=hg38",
        "id": "chr11:g.108327713G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140104789",
        "rs": 140104789
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108198440-G-A?dataset=gnomad_r2_1",
        "id": "11-108198440-G-A",
        "variant": "11:108198440 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108327713-G-A?dataset=gnomad_r3",
        "id": "11-108327713-G-A",
        "variant": "11:108327713 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108327713-G-A?dataset=gnomad_r4",
        "id": "11-108327713-G-A",
        "variant": "11:108327713 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108327713,
          "referenceAllele": "G",
          "start": 108327712
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108327713G>A",
        "CM000673.2:g.108327713G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108198440,
          "referenceAllele": "G",
          "start": 108198439
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108198440G>A",
        "CM000673.1:g.108198440G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 107703650,
          "referenceAllele": "G",
          "start": 107703649
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107703650G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 109882,
          "referenceAllele": "G",
          "start": 109881
        }
      ],
      "hgvs": [
        "NG_009830.1:g.109882G>A",
        "LRG_135:g.109882G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147120,
          "referenceAllele": "C",
          "start": 147119
        }
      ],
      "hgvs": [
        "NG_054724.1:g.147120C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617495"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7526,
          "referenceAllele": "G",
          "start": 7525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7172,
          "referenceAllele": "G",
          "start": 7171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*6515G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*6515G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7350,
          "referenceAllele": "G",
          "start": 7349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1463,
          "referenceAllele": "G",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525056.2:n.1463G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1,
          "referenceAllele": "G",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525537.3:n.1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1801,
          "referenceAllele": "G",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682286.1:n.1801G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1462,
          "referenceAllele": "G",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682302.1:n.1462G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8528,
          "referenceAllele": "G",
          "start": 8527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.8528G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2268,
          "referenceAllele": "G",
          "start": 2267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683524.1:n.2268G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2758,
          "referenceAllele": "G",
          "start": 2757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684152.1:n.2758G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1507,
          "referenceAllele": "G",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684447.1:n.1507G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6895,
          "referenceAllele": "G",
          "start": 6894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.*2108G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:n.*2108G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6949,
          "referenceAllele": "G",
          "start": 6948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.*2179G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:n.*2179G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7194,
          "referenceAllele": "G",
          "start": 7193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.7044G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.7044G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Thr2348="
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Thr2348="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7429,
          "referenceAllele": "G",
          "start": 7428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7233,
          "referenceAllele": "G",
          "start": 7232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3259,
          "referenceAllele": "G",
          "start": 3258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000524792.5:n.3259G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 320,
          "referenceAllele": "G",
          "start": 319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525537.2:n.320G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 18641,
          "referenceAllele": "C",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 18642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000525729.5:c.641-18642C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433395.1:n.641-18642C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 69,
          "referenceAllele": "G",
          "start": 68
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527389.2:n.69G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2448,
          "referenceAllele": "G",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000533690.5:n.2448G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825035214",
      "coordinates": [
        {
          "allele": "A",
          "end": 7429,
          "referenceAllele": "G",
          "start": 7428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.7044G>A",
        "LRG_135t1:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7252,
          "referenceAllele": "G",
          "start": 7251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7561,
          "referenceAllele": "G",
          "start": 7560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7184,
          "referenceAllele": "G",
          "start": 7183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3069,
          "referenceAllele": "G",
          "start": 3068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.1:c.3000G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Thr1000="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7272,
          "referenceAllele": "G",
          "start": 7271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7955,
          "referenceAllele": "G",
          "start": 7954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6999,
          "referenceAllele": "G",
          "start": 6998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.6879G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Thr2293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7761,
          "referenceAllele": "G",
          "start": 7760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6545,
          "referenceAllele": "G",
          "start": 6544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.6000G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Thr2000="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5892,
          "referenceAllele": "G",
          "start": 5891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.5736G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Thr1912="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2155,
          "referenceAllele": "G",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542847.1:c.2115G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541149.1:p.Thr705="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 18641,
          "referenceAllele": "C",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 18642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.1:c.641-18642C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-18642C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 7507,
          "referenceAllele": "C",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 7506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.1:c.*38+7507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.*38+7507C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827629246",
      "coordinates": [
        {
          "allele": "A",
          "end": 7517,
          "referenceAllele": "G",
          "start": 7516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7563,
          "referenceAllele": "G",
          "start": 7562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7196,
          "referenceAllele": "G",
          "start": 7195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3070,
          "referenceAllele": "G",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.2:c.3000G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Thr1000="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7284,
          "referenceAllele": "G",
          "start": 7283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7259,
          "referenceAllele": "G",
          "start": 7258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.6879G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Thr2293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7777,
          "referenceAllele": "G",
          "start": 7776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7380,
          "referenceAllele": "G",
          "start": 7379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.6000G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Thr2000="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5892,
          "referenceAllele": "G",
          "start": 5891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.5736G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Thr1912="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7987,
          "referenceAllele": "G",
          "start": 7986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7384,
          "referenceAllele": "G",
          "start": 7383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "endIntronDirection": "-",
          "endIntronOffset": 18641,
          "referenceAllele": "C",
          "start": 708,
          "startIntronDirection": "-",
          "startIntronOffset": 18642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.2:c.641-18642C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-18642C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "endIntronDirection": "+",
          "endIntronOffset": 7507,
          "referenceAllele": "C",
          "start": 835,
          "startIntronDirection": "+",
          "startIntronOffset": 7506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.2:c.*38+7507C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.*38+7507C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827629246",
      "coordinates": [
        {
          "allele": "A",
          "end": 7282,
          "referenceAllele": "G",
          "start": 7281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825035214",
      "coordinates": [
        {
          "allele": "A",
          "end": 7194,
          "referenceAllele": "G",
          "start": 7193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.7044G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Thr2348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.7044G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.7044G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Thr2348="
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Thr2348="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}