{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA197160",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183398[alleleid]",
        "alleleId": 183398,
        "preferredName": "NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187253",
        "RCV": [
          "RCV000166968",
          "RCV000430989",
          "RCV000463235",
          "RCV001711449",
          "RCV004552928"
        ],
        "variationId": 187253
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108202197-T-C",
        "id": "11-108202197-T-C",
        "variant": "11:108202197 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108202197T>C?assembly=hg19",
        "id": "chr11:g.108202197T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108331470T>C?assembly=hg38",
        "id": "chr11:g.108331470T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777925486",
        "rs": 777925486
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108202197-T-C?dataset=gnomad_r2_1",
        "id": "11-108202197-T-C",
        "variant": "11:108202197 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108331470-T-C?dataset=gnomad_r3",
        "id": "11-108331470-T-C",
        "variant": "11:108331470 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108331470-T-C?dataset=gnomad_r4",
        "id": "11-108331470-T-C",
        "variant": "11:108331470 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 108331470,
          "referenceAllele": "T",
          "start": 108331469
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108331470T>C",
        "CM000673.2:g.108331470T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 108202197,
          "referenceAllele": "T",
          "start": 108202196
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108202197T>C",
        "CM000673.1:g.108202197T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 107707407,
          "referenceAllele": "T",
          "start": 107707406
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107707407T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113639,
          "referenceAllele": "T",
          "start": 113638
        }
      ],
      "hgvs": [
        "NG_009830.1:g.113639T>C",
        "LRG_135:g.113639T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 143363,
          "referenceAllele": "A",
          "start": 143362
        }
      ],
      "hgvs": [
        "NG_054724.1:g.143363A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617495"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8024,
          "referenceAllele": "T",
          "start": 8023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7670,
          "referenceAllele": "T",
          "start": 7669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*7013T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*7013T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7848,
          "referenceAllele": "T",
          "start": 7847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1961,
          "referenceAllele": "T",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525056.2:n.1961T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 499,
          "referenceAllele": "T",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525537.3:n.499T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "referenceAllele": "T",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000638786.2:n.379T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2299,
          "referenceAllele": "T",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682286.1:n.2299T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1960,
          "referenceAllele": "T",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682302.1:n.1960T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827296"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9026,
          "referenceAllele": "T",
          "start": 9025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.9026T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2766,
          "referenceAllele": "T",
          "start": 2765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683524.1:n.2766T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828498"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3256,
          "referenceAllele": "T",
          "start": 3255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684152.1:n.3256T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2005,
          "referenceAllele": "T",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684447.1:n.2005T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7393,
          "referenceAllele": "T",
          "start": 7392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.*2606T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:n.*2606T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7447,
          "referenceAllele": "T",
          "start": 7446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.*2677T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:n.*2677T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7692,
          "referenceAllele": "T",
          "start": 7691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.7542T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.7542T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Tyr2514="
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Tyr2514="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7927,
          "referenceAllele": "T",
          "start": 7926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7731,
          "referenceAllele": "T",
          "start": 7730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "referenceAllele": "A",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000524755.5:c.397A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3757,
          "referenceAllele": "T",
          "start": 3756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000524792.5:n.3757T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 22398,
          "referenceAllele": "A",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 22399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000525729.5:c.641-22399A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433395.1:n.641-22399A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2412,
          "referenceAllele": "A",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000527531.5:c.*1367A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431706.1:n.*1367A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2946,
          "referenceAllele": "T",
          "start": 2945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000533690.5:n.2946T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2442,
          "referenceAllele": "A",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000615746.4:c.*1367A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483537.1:n.*1367A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825035599",
      "coordinates": [
        {
          "allele": "C",
          "end": 7927,
          "referenceAllele": "T",
          "start": 7926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.7542T>C",
        "LRG_135t1:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 988,
          "referenceAllele": "A",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271415.3:c.*80A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271472.1:n.*80A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7750,
          "referenceAllele": "T",
          "start": 7749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8059,
          "referenceAllele": "T",
          "start": 8058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7682,
          "referenceAllele": "T",
          "start": 7681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3567,
          "referenceAllele": "T",
          "start": 3566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.1:c.3498T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Tyr1166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7770,
          "referenceAllele": "T",
          "start": 7769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8453,
          "referenceAllele": "T",
          "start": 8452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7497,
          "referenceAllele": "T",
          "start": 7496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.7377T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Tyr2459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8259,
          "referenceAllele": "T",
          "start": 8258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7043,
          "referenceAllele": "T",
          "start": 7042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.6498T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Tyr2166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6390,
          "referenceAllele": "T",
          "start": 6389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.6234T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Tyr2078="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2653,
          "referenceAllele": "T",
          "start": 2652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542847.1:c.2613T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541149.1:p.Tyr871="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109776"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 22398,
          "referenceAllele": "A",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 22399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.1:c.641-22399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-22399A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 3750,
          "referenceAllele": "A",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 3749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.1:c.*38+3750A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.*38+3750A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827629380",
      "coordinates": [
        {
          "allele": "C",
          "end": 8015,
          "referenceAllele": "T",
          "start": 8014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2472,
          "referenceAllele": "A",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NR_147053.2:n.2472A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530594"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "A",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271414.4:c.*136A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271471.1:n.*136A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 988,
          "referenceAllele": "A",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271415.4:c.*80A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271472.1:n.*80A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8061,
          "referenceAllele": "T",
          "start": 8060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7694,
          "referenceAllele": "T",
          "start": 7693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3568,
          "referenceAllele": "T",
          "start": 3567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.2:c.3498T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Tyr1166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7782,
          "referenceAllele": "T",
          "start": 7781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7757,
          "referenceAllele": "T",
          "start": 7756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.7377T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Tyr2459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8275,
          "referenceAllele": "T",
          "start": 8274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7878,
          "referenceAllele": "T",
          "start": 7877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.6498T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Tyr2166="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6390,
          "referenceAllele": "T",
          "start": 6389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.6234T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Tyr2078="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8485,
          "referenceAllele": "T",
          "start": 8484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7882,
          "referenceAllele": "T",
          "start": 7881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 708,
          "endIntronDirection": "-",
          "endIntronOffset": 22398,
          "referenceAllele": "A",
          "start": 708,
          "startIntronDirection": "-",
          "startIntronOffset": 22399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.2:c.641-22399A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-22399A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 835,
          "endIntronDirection": "+",
          "endIntronOffset": 3750,
          "referenceAllele": "A",
          "start": 835,
          "startIntronDirection": "+",
          "startIntronOffset": 3749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.2:c.*38+3750A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.*38+3750A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827629380",
      "coordinates": [
        {
          "allele": "C",
          "end": 7780,
          "referenceAllele": "T",
          "start": 7779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825035599",
      "coordinates": [
        {
          "allele": "C",
          "end": 7692,
          "referenceAllele": "T",
          "start": 7691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.7542T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Tyr2514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.7542T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.7542T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Tyr2514="
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Tyr2514="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2470,
          "referenceAllele": "A",
          "start": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NR_147053.3:n.2470A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731368"
    }
  ],
  "type": "nucleotide"
}