{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA382518373",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.8534G>T (p.Trp2845Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1338532[alleleid]",
        "alleleId": 1338532,
        "preferredName": "NM_000051.4(ATM):c.8534G>T (p.Trp2845Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1394510",
        "RCV": [
          "RCV001900923",
          "RCV002407018"
        ],
        "variationId": 1394510
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108216585G>T?assembly=hg19",
        "id": "chr11:g.108216585G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108345858G>T?assembly=hg38",
        "id": "chr11:g.108345858G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2137034202",
        "rs": 2137034202
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108345858,
          "referenceAllele": "G",
          "start": 108345857
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108345858G>T",
        "CM000673.2:g.108345858G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 108216585,
          "referenceAllele": "G",
          "start": 108216584
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108216585G>T",
        "CM000673.1:g.108216585G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 107721795,
          "referenceAllele": "G",
          "start": 107721794
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107721795G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128027,
          "referenceAllele": "G",
          "start": 128026
        }
      ],
      "hgvs": [
        "NG_009830.1:g.128027G>T",
        "LRG_135:g.128027G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 128975,
          "referenceAllele": "C",
          "start": 128974
        }
      ],
      "hgvs": [
        "NG_054724.1:g.128975C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617495"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9016,
          "referenceAllele": "G",
          "start": 9015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Trp2845Leu",
        "hgvsWellDefined": "ENSP00000388058.2:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8662,
          "referenceAllele": "G",
          "start": 8661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*8005G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*8005G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8840,
          "referenceAllele": "G",
          "start": 8839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Trp2845Leu",
        "hgvsWellDefined": "ENSP00000278616.4:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1232,
          "referenceAllele": "G",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000638786.2:n.1232G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3291,
          "referenceAllele": "G",
          "start": 3290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682286.1:n.3291G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2952,
          "referenceAllele": "G",
          "start": 2951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682302.1:n.2952G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10018,
          "referenceAllele": "G",
          "start": 10017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.10018G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3758,
          "referenceAllele": "G",
          "start": 3757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683524.1:n.3758G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3950,
          "referenceAllele": "G",
          "start": 3949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684152.1:n.3950G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1008,
          "referenceAllele": "G",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684180.1:n.1008G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5027,
          "referenceAllele": "G",
          "start": 5026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684447.1:n.5027G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8385,
          "referenceAllele": "G",
          "start": 8384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.*3598G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:n.*3598G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8439,
          "referenceAllele": "G",
          "start": 8438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.*3669G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:n.*3669G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8684,
          "referenceAllele": "G",
          "start": 8683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Trp2845Leu",
        "hgvsWellDefined": "ENSP00000501606.1:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.8534G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.8534G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Trp2845Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Trp2845Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8919,
          "referenceAllele": "G",
          "start": 8918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Trp2845Leu",
        "hgvsWellDefined": "ENSP00000278616.4:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8723,
          "referenceAllele": "G",
          "start": 8722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Trp2845Leu",
        "hgvsWellDefined": "ENSP00000388058.2:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 226,
          "endIntronDirection": "-",
          "endIntronOffset": 10565,
          "referenceAllele": "C",
          "start": 226,
          "startIntronDirection": "-",
          "startIntronOffset": 10566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000524755.5:c.227-10566C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350864"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4749,
          "referenceAllele": "G",
          "start": 4748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000524792.5:n.4749G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 36786,
          "referenceAllele": "C",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 36787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000525729.5:c.641-36787C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433395.1:n.641-36787C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 5493,
          "referenceAllele": "C",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 5494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000526725.1:n.272-5494C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2241,
          "endIntronDirection": "+",
          "endIntronOffset": 9057,
          "referenceAllele": "C",
          "start": 2241,
          "startIntronDirection": "+",
          "startIntronOffset": 9056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000527531.5:c.*1196+9057C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431706.1:n.*1196+9057C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353218"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2271,
          "endIntronDirection": "+",
          "endIntronOffset": 9057,
          "referenceAllele": "C",
          "start": 2271,
          "startIntronDirection": "+",
          "startIntronOffset": 9056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000615746.4:c.*1196+9057C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483537.1:n.*1196+9057C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825036347",
      "coordinates": [
        {
          "allele": "T",
          "end": 8919,
          "referenceAllele": "G",
          "start": 8918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.8534G>T",
        "LRG_135t1:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Trp2845Leu",
        "hgvsWellDefined": "NP_000042.3:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 10565,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 10566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271414.3:c.788-10566C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271471.1:n.788-10566C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 10565,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 10566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271415.3:c.732-10566C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271472.1:n.732-10566C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8742,
          "referenceAllele": "G",
          "start": 8741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Trp2845Leu",
        "hgvsWellDefined": "XP_005271618.2:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9051,
          "referenceAllele": "G",
          "start": 9050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Trp2845Leu",
        "hgvsWellDefined": "XP_005271619.2:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8674,
          "referenceAllele": "G",
          "start": 8673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Trp2845Leu",
        "hgvsWellDefined": "XP_006718906.1:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4559,
          "referenceAllele": "G",
          "start": 4558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.1:c.4490G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Trp1497Leu",
        "hgvsWellDefined": "XP_006718908.1:p.Trp1497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 5493,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 5494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_011542640.1:c.788-5494C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540942.1:n.788-5494C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 5493,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 5494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_011542643.1:c.732-5494C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540945.1:n.732-5494C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8762,
          "referenceAllele": "G",
          "start": 8761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Trp2845Leu",
        "hgvsWellDefined": "XP_011541142.1:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9445,
          "referenceAllele": "G",
          "start": 9444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Trp2845Leu",
        "hgvsWellDefined": "XP_011541143.1:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8489,
          "referenceAllele": "G",
          "start": 8488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.8369G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Trp2790Leu",
        "hgvsWellDefined": "XP_011541144.1:p.Trp2790Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9251,
          "referenceAllele": "G",
          "start": 9250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Trp2845Leu",
        "hgvsWellDefined": "XP_011541145.1:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8035,
          "referenceAllele": "G",
          "start": 8034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.7490G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Trp2497Leu",
        "hgvsWellDefined": "XP_011541146.1:p.Trp2497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7382,
          "referenceAllele": "G",
          "start": 7381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.7226G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Trp2409Leu",
        "hgvsWellDefined": "XP_011541147.1:p.Trp2409Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3645,
          "referenceAllele": "G",
          "start": 3644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542847.1:c.3605G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541149.1:p.Trp1202Leu",
        "hgvsWellDefined": "XP_011541149.1:p.Trp1202Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109776"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 36786,
          "referenceAllele": "C",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 36787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.1:c.641-36787C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-36787C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 764,
          "endIntronDirection": "-",
          "endIntronOffset": 10565,
          "referenceAllele": "C",
          "start": 764,
          "startIntronDirection": "-",
          "startIntronOffset": 10566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.1:c.695-10566C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.695-10566C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573204491",
      "coordinates": [
        {
          "allele": "T",
          "end": 9007,
          "referenceAllele": "G",
          "start": 9006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Trp2845Leu",
        "hgvsWellDefined": "NP_001338763.1:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "endIntronDirection": "+",
          "endIntronOffset": 9057,
          "referenceAllele": "C",
          "start": 2301,
          "startIntronDirection": "+",
          "startIntronOffset": 9056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NR_147053.2:n.2301+9057C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530594"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 10565,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 10566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271414.4:c.788-10566C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271471.1:n.788-10566C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 10565,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 10566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_005271415.4:c.732-10566C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271472.1:n.732-10566C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537108"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9053,
          "referenceAllele": "G",
          "start": 9052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Trp2845Leu",
        "hgvsWellDefined": "XP_005271619.2:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8686,
          "referenceAllele": "G",
          "start": 8685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Trp2845Leu",
        "hgvsWellDefined": "XP_006718906.1:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4560,
          "referenceAllele": "G",
          "start": 4559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.2:c.4490G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Trp1497Leu",
        "hgvsWellDefined": "XP_006718908.1:p.Trp1497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 5493,
          "referenceAllele": "C",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 5494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_011542640.2:c.788-5494C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540942.1:n.788-5494C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554865"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "endIntronDirection": "-",
          "endIntronOffset": 5493,
          "referenceAllele": "C",
          "start": 817,
          "startIntronDirection": "-",
          "startIntronOffset": 5494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_011542643.2:c.732-5494C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540945.1:n.732-5494C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8774,
          "referenceAllele": "G",
          "start": 8773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Trp2845Leu",
        "hgvsWellDefined": "XP_011541142.1:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8749,
          "referenceAllele": "G",
          "start": 8748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.8369G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Trp2790Leu",
        "hgvsWellDefined": "XP_011541144.1:p.Trp2790Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9267,
          "referenceAllele": "G",
          "start": 9266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Trp2845Leu",
        "hgvsWellDefined": "XP_011541145.1:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8870,
          "referenceAllele": "G",
          "start": 8869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.7490G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Trp2497Leu",
        "hgvsWellDefined": "XP_011541146.1:p.Trp2497Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7382,
          "referenceAllele": "G",
          "start": 7381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.7226G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Trp2409Leu",
        "hgvsWellDefined": "XP_011541147.1:p.Trp2409Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 989,
          "endIntronDirection": "-",
          "endIntronOffset": 5493,
          "referenceAllele": "C",
          "start": 989,
          "startIntronDirection": "-",
          "startIntronOffset": 5494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "XM_017017247.1:c.904-5494C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016872736.1:n.904-5494C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9477,
          "referenceAllele": "G",
          "start": 9476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Trp2845Leu",
        "hgvsWellDefined": "XP_016873278.1:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8874,
          "referenceAllele": "G",
          "start": 8873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Trp2845Leu",
        "hgvsWellDefined": "XP_016873279.1:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 708,
          "endIntronDirection": "-",
          "endIntronOffset": 36786,
          "referenceAllele": "C",
          "start": 708,
          "startIntronDirection": "-",
          "startIntronOffset": 36787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.2:c.641-36787C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-36787C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "endIntronDirection": "-",
          "endIntronOffset": 10565,
          "referenceAllele": "C",
          "start": 762,
          "startIntronDirection": "-",
          "startIntronOffset": 10566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.2:c.695-10566C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.695-10566C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573204491",
      "coordinates": [
        {
          "allele": "T",
          "end": 8772,
          "referenceAllele": "G",
          "start": 8771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Trp2845Leu",
        "hgvsWellDefined": "NP_001338763.1:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825036347",
      "coordinates": [
        {
          "allele": "T",
          "end": 8684,
          "referenceAllele": "G",
          "start": 8683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.8534G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Trp2845Leu",
        "hgvsWellDefined": "NP_000042.3:p.Trp2845Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.8534G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.8534G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Trp2845Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Trp2845Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2299,
          "endIntronDirection": "+",
          "endIntronOffset": 9057,
          "referenceAllele": "C",
          "start": 2299,
          "startIntronDirection": "+",
          "startIntronOffset": 9056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NR_147053.3:n.2299+9057C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731368"
    }
  ],
  "type": "nucleotide"
}