{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274099",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.3G>A (p.Met1Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186796[alleleid]",
        "alleleId": 186796,
        "preferredName": "NM_000051.4(ATM):c.3G>A (p.Met1Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188901",
        "RCV": [
          "RCV000169261",
          "RCV000215466",
          "RCV000223021",
          "RCV004020015"
        ],
        "variationId": 188901
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108098354-G-A",
        "id": "11-108098354-G-A",
        "variant": "11:108098354 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108098354G>A?assembly=hg19",
        "id": "chr11:g.108098354G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108227627G>A?assembly=hg38",
        "id": "chr11:g.108227627G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/781404312",
        "rs": 781404312
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108098354-G-A?dataset=gnomad_r2_1",
        "id": "11-108098354-G-A",
        "variant": "11:108098354 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108227627-G-A?dataset=gnomad_r3",
        "id": "11-108227627-G-A",
        "variant": "11:108227627 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108227627-G-A?dataset=gnomad_r4",
        "id": "11-108227627-G-A",
        "variant": "11:108227627 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108227627,
          "referenceAllele": "G",
          "start": 108227626
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108227627G>A",
        "CM000673.2:g.108227627G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108098354,
          "referenceAllele": "G",
          "start": 108098353
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108098354G>A",
        "CM000673.1:g.108098354G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 107603564,
          "referenceAllele": "G",
          "start": 107603563
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107603564G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9796,
          "referenceAllele": "G",
          "start": 9795
        }
      ],
      "hgvs": [
        "NG_009830.1:g.9796G>A",
        "LRG_135:g.9796G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "referenceAllele": "G",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000388058.2:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683914.2:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507649.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000507649.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "G",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000518889.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309,
          "referenceAllele": "G",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000278616.4:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682147.1:n.137G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102,
          "referenceAllele": "G",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682430.1:n.102G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682465.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508284.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000508284.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682516.1:n.137G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682956.1:n.137G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827944"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 222,
          "referenceAllele": "G",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683150.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507125.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000507125.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "G",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.153G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4542,
          "referenceAllele": "G",
          "start": 4541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683468.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508178.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000508178.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4584,
          "referenceAllele": "G",
          "start": 4583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683488.1:n.4584G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71,
          "referenceAllele": "G",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683914.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507649.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000507649.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684029.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508010.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000508010.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684037.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508245.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000508245.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684061.1:n.137G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 137,
          "referenceAllele": "G",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684179.1:n.137G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 152,
          "referenceAllele": "G",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000435747.2:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 122,
          "referenceAllele": "G",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000638443.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491957.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000491957.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130,
          "referenceAllele": "G",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000639240.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491585.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000491585.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000639953.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492487.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000492487.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 210,
          "referenceAllele": "G",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000640388.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492354.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000492354.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "G",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000502563.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "G",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000501606.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.3G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.3G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Met1Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Met1Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000278616.4:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 192,
          "referenceAllele": "G",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000388058.2:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "referenceAllele": "G",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000526567.5:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480205.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000480205.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.5:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000435747.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "G",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527891.5:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433955.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000433955.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4525,
          "referenceAllele": "G",
          "start": 4524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000530958.5:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483338.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000483338.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "G",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000532931.5:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432318.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000432318.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 180,
          "referenceAllele": "G",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000601453.2:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469471.1:p.Met1Ile",
        "hgvsWellDefined": "ENSP00000469471.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274101",
      "coordinates": [
        {
          "allele": "A",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.3G>A",
        "LRG_135t1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Met1Ile",
        "hgvsWellDefined": "NP_000042.3:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211,
          "referenceAllele": "G",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Met1Ile",
        "hgvsWellDefined": "XP_005271618.2:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Met1Ile",
        "hgvsWellDefined": "XP_005271619.2:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143,
          "referenceAllele": "G",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Met1Ile",
        "hgvsWellDefined": "XP_006718906.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 231,
          "referenceAllele": "G",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Met1Ile",
        "hgvsWellDefined": "XP_011541142.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "referenceAllele": "G",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Met1Ile",
        "hgvsWellDefined": "XP_011541143.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "referenceAllele": "G",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Met1Ile",
        "hgvsWellDefined": "XP_011541144.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Met1Ile",
        "hgvsWellDefined": "XP_011541145.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542846.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541148.1:p.Met1Ile",
        "hgvsWellDefined": "XP_011541148.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827628933",
      "coordinates": [
        {
          "allele": "A",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001338763.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827629850",
      "coordinates": [
        {
          "allele": "A",
          "end": 388,
          "referenceAllele": "G",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351835.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338764.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001338764.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520486"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035129",
      "coordinates": [
        {
          "allele": "A",
          "end": 191,
          "referenceAllele": "G",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351836.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338765.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001338765.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Met1Ile",
        "hgvsWellDefined": "XP_005271619.2:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 155,
          "referenceAllele": "G",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Met1Ile",
        "hgvsWellDefined": "XP_006718906.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "referenceAllele": "G",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Met1Ile",
        "hgvsWellDefined": "XP_011541142.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "referenceAllele": "G",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Met1Ile",
        "hgvsWellDefined": "XP_011541144.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Met1Ile",
        "hgvsWellDefined": "XP_011541145.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 361,
          "referenceAllele": "G",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.-1020G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:n.-1020G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 946,
          "referenceAllele": "G",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Met1Ile",
        "hgvsWellDefined": "XP_016873278.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Met1Ile",
        "hgvsWellDefined": "XP_016873279.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017791.1:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873280.1:p.Met1Ile",
        "hgvsWellDefined": "XP_016873280.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017792.2:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873281.1:p.Met1Ile",
        "hgvsWellDefined": "XP_016873281.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 736,
          "referenceAllele": "G",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XR_002957150.1:n.736G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827628933",
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001338763.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274101",
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "G",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Met1Ile",
        "hgvsWellDefined": "NP_000042.3:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.3G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.3G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Met1Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Met1Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827629850",
      "coordinates": [
        {
          "allele": "A",
          "end": 153,
          "referenceAllele": "G",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351835.2:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338764.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001338764.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719926"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035129",
      "coordinates": [
        {
          "allele": "A",
          "end": 395,
          "referenceAllele": "G",
          "start": 394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351836.2:c.3G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338765.1:p.Met1Ile",
        "hgvsWellDefined": "NP_001338765.1:p.Met1Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719927"
    }
  ],
  "type": "nucleotide"
}