{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA198094",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183399[alleleid]",
        "alleleId": 183399,
        "preferredName": "NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187613",
        "RCV": [
          "RCV000167357",
          "RCV000550379",
          "RCV003319326"
        ],
        "variationId": 187613
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108202225-G-C",
        "id": "11-108202225-G-C",
        "variant": "11:108202225 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108202225G>C?assembly=hg19",
        "id": "chr11:g.108202225G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108331498G>C?assembly=hg38",
        "id": "chr11:g.108331498G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769142993",
        "rs": 769142993
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108202225-G-C?dataset=gnomad_r2_1",
        "id": "11-108202225-G-C",
        "variant": "11:108202225 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108331498-G-C?dataset=gnomad_r3",
        "id": "11-108331498-G-C",
        "variant": "11:108331498 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108331498-G-C?dataset=gnomad_r4",
        "id": "11-108331498-G-C",
        "variant": "11:108331498 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 108331498,
          "referenceAllele": "G",
          "start": 108331497
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108331498G>C",
        "CM000673.2:g.108331498G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 108202225,
          "referenceAllele": "G",
          "start": 108202224
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108202225G>C",
        "CM000673.1:g.108202225G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 107707435,
          "referenceAllele": "G",
          "start": 107707434
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107707435G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 113667,
          "referenceAllele": "G",
          "start": 113666
        }
      ],
      "hgvs": [
        "NG_009830.1:g.113667G>C",
        "LRG_135:g.113667G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 143335,
          "referenceAllele": "C",
          "start": 143334
        }
      ],
      "hgvs": [
        "NG_054724.1:g.143335C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617495"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8052,
          "referenceAllele": "G",
          "start": 8051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Ala2524Pro",
        "hgvsWellDefined": "ENSP00000388058.2:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7698,
          "referenceAllele": "G",
          "start": 7697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*7041G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*7041G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7876,
          "referenceAllele": "G",
          "start": 7875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Ala2524Pro",
        "hgvsWellDefined": "ENSP00000278616.4:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1989,
          "referenceAllele": "G",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525056.2:n.1989G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525537.3:n.527G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 407,
          "referenceAllele": "G",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000638786.2:n.407G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826682"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2327,
          "referenceAllele": "G",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682286.1:n.2327G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1988,
          "referenceAllele": "G",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682302.1:n.1988G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827296"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9054,
          "referenceAllele": "G",
          "start": 9053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.9054G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2794,
          "referenceAllele": "G",
          "start": 2793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683524.1:n.2794G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828498"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3284,
          "referenceAllele": "G",
          "start": 3283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684152.1:n.3284G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829110"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2033,
          "referenceAllele": "G",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684447.1:n.2033G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7421,
          "referenceAllele": "G",
          "start": 7420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.*2634G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:n.*2634G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7475,
          "referenceAllele": "G",
          "start": 7474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.*2705G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:n.*2705G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7720,
          "referenceAllele": "G",
          "start": 7719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Ala2524Pro",
        "hgvsWellDefined": "ENSP00000501606.1:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.7570G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.7570G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Ala2524Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Ala2524Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7955,
          "referenceAllele": "G",
          "start": 7954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Ala2524Pro",
        "hgvsWellDefined": "ENSP00000278616.4:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7759,
          "referenceAllele": "G",
          "start": 7758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Ala2524Pro",
        "hgvsWellDefined": "ENSP00000388058.2:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 369,
          "referenceAllele": "C",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000524755.5:c.369C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3785,
          "referenceAllele": "G",
          "start": 3784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000524792.5:n.3785G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 22426,
          "referenceAllele": "C",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 22427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000525729.5:c.641-22427C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433395.1:n.641-22427C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2384,
          "referenceAllele": "C",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000527531.5:c.*1339C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431706.1:n.*1339C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353218"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2974,
          "referenceAllele": "G",
          "start": 2973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000533690.5:n.2974G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2414,
          "referenceAllele": "C",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000615746.4:c.*1339C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483537.1:n.*1339C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA198096",
      "coordinates": [
        {
          "allele": "C",
          "end": 7955,
          "referenceAllele": "G",
          "start": 7954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.7570G>C",
        "LRG_135t1:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Ala2524Pro",
        "hgvsWellDefined": "NP_000042.3:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271414.3:c.*108C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271471.1:n.*108C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066876"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271415.3:c.*52C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271472.1:n.*52C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7778,
          "referenceAllele": "G",
          "start": 7777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Ala2524Pro",
        "hgvsWellDefined": "XP_005271618.2:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8087,
          "referenceAllele": "G",
          "start": 8086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Ala2524Pro",
        "hgvsWellDefined": "XP_005271619.2:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7710,
          "referenceAllele": "G",
          "start": 7709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Ala2524Pro",
        "hgvsWellDefined": "XP_006718906.1:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3595,
          "referenceAllele": "G",
          "start": 3594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.1:c.3526G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Ala1176Pro",
        "hgvsWellDefined": "XP_006718908.1:p.Ala1176Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7798,
          "referenceAllele": "G",
          "start": 7797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Ala2524Pro",
        "hgvsWellDefined": "XP_011541142.1:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8481,
          "referenceAllele": "G",
          "start": 8480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Ala2524Pro",
        "hgvsWellDefined": "XP_011541143.1:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7525,
          "referenceAllele": "G",
          "start": 7524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.7405G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Ala2469Pro",
        "hgvsWellDefined": "XP_011541144.1:p.Ala2469Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8287,
          "referenceAllele": "G",
          "start": 8286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Ala2524Pro",
        "hgvsWellDefined": "XP_011541145.1:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7071,
          "referenceAllele": "G",
          "start": 7070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.6526G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Ala2176Pro",
        "hgvsWellDefined": "XP_011541146.1:p.Ala2176Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6418,
          "referenceAllele": "G",
          "start": 6417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.6262G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Ala2088Pro",
        "hgvsWellDefined": "XP_011541147.1:p.Ala2088Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2681,
          "referenceAllele": "G",
          "start": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542847.1:c.2641G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541149.1:p.Ala881Pro",
        "hgvsWellDefined": "XP_011541149.1:p.Ala881Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109776"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 22426,
          "referenceAllele": "C",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 22427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.1:c.641-22427C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-22427C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 3722,
          "referenceAllele": "C",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 3721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.1:c.*38+3722C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.*38+3722C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916034410",
      "coordinates": [
        {
          "allele": "C",
          "end": 8043,
          "referenceAllele": "G",
          "start": 8042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Ala2524Pro",
        "hgvsWellDefined": "NP_001338763.1:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2444,
          "referenceAllele": "C",
          "start": 2443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NR_147053.2:n.2444C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530594"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271414.4:c.*108C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271471.1:n.*108C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537107"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271415.4:c.*52C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271472.1:n.*52C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8089,
          "referenceAllele": "G",
          "start": 8088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Ala2524Pro",
        "hgvsWellDefined": "XP_005271619.2:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7722,
          "referenceAllele": "G",
          "start": 7721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Ala2524Pro",
        "hgvsWellDefined": "XP_006718906.1:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3596,
          "referenceAllele": "G",
          "start": 3595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.2:c.3526G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Ala1176Pro",
        "hgvsWellDefined": "XP_006718908.1:p.Ala1176Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7810,
          "referenceAllele": "G",
          "start": 7809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Ala2524Pro",
        "hgvsWellDefined": "XP_011541142.1:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7785,
          "referenceAllele": "G",
          "start": 7784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.7405G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Ala2469Pro",
        "hgvsWellDefined": "XP_011541144.1:p.Ala2469Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8303,
          "referenceAllele": "G",
          "start": 8302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Ala2524Pro",
        "hgvsWellDefined": "XP_011541145.1:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7906,
          "referenceAllele": "G",
          "start": 7905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.6526G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Ala2176Pro",
        "hgvsWellDefined": "XP_011541146.1:p.Ala2176Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6418,
          "referenceAllele": "G",
          "start": 6417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.6262G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Ala2088Pro",
        "hgvsWellDefined": "XP_011541147.1:p.Ala2088Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8513,
          "referenceAllele": "G",
          "start": 8512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Ala2524Pro",
        "hgvsWellDefined": "XP_016873278.1:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7910,
          "referenceAllele": "G",
          "start": 7909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Ala2524Pro",
        "hgvsWellDefined": "XP_016873279.1:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 708,
          "endIntronDirection": "-",
          "endIntronOffset": 22426,
          "referenceAllele": "C",
          "start": 708,
          "startIntronDirection": "-",
          "startIntronOffset": 22427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.2:c.641-22427C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-22427C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 835,
          "endIntronDirection": "+",
          "endIntronOffset": 3722,
          "referenceAllele": "C",
          "start": 835,
          "startIntronDirection": "+",
          "startIntronOffset": 3721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.2:c.*38+3722C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.*38+3722C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916034410",
      "coordinates": [
        {
          "allele": "C",
          "end": 7808,
          "referenceAllele": "G",
          "start": 7807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Ala2524Pro",
        "hgvsWellDefined": "NP_001338763.1:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA198096",
      "coordinates": [
        {
          "allele": "C",
          "end": 7720,
          "referenceAllele": "G",
          "start": 7719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.7570G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Ala2524Pro",
        "hgvsWellDefined": "NP_000042.3:p.Ala2524Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.7570G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.7570G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Ala2524Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Ala2524Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2442,
          "referenceAllele": "C",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NR_147053.3:n.2442C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731368"
    }
  ],
  "type": "nucleotide"
}