{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA294246",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3720570",
        "active": true,
        "id": "COSM3720570"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3720571",
        "active": true,
        "id": "COSM3720571"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151760[alleleid]",
        "alleleId": 151760,
        "preferredName": "NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142046",
        "RCV": [
          "RCV000130850",
          "RCV000475427",
          "RCV000515162",
          "RCV000588298",
          "RCV001354773",
          "RCV001731389",
          "RCV003149903"
        ],
        "variationId": 142046
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108143537-A-G",
        "id": "11-108143537-A-G",
        "variant": "11:108143537 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108143537A>G?assembly=hg19",
        "id": "chr11:g.108143537A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108272810A>G?assembly=hg38",
        "id": "chr11:g.108272810A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368111672",
        "rs": 368111672
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108143537-A-G?dataset=gnomad_r2_1",
        "id": "11-108143537-A-G",
        "variant": "11:108143537 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108272810-A-G?dataset=gnomad_r3",
        "id": "11-108272810-A-G",
        "variant": "11:108272810 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108272810-A-G?dataset=gnomad_r4",
        "id": "11-108272810-A-G",
        "variant": "11:108272810 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 108272810,
          "referenceAllele": "A",
          "start": 108272809
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108272810A>G",
        "CM000673.2:g.108272810A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 108143537,
          "referenceAllele": "A",
          "start": 108143536
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108143537A>G",
        "CM000673.1:g.108143537A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 107648747,
          "referenceAllele": "A",
          "start": 107648746
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107648747A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 54979,
          "referenceAllele": "A",
          "start": 54978
        }
      ],
      "hgvs": [
        "NG_009830.1:g.54979A>G",
        "LRG_135:g.54979A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3724,
          "referenceAllele": "A",
          "start": 3723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Asn1081Ser",
        "hgvsWellDefined": "ENSP00000388058.2:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3370,
          "referenceAllele": "A",
          "start": 3369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*2713A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*2713A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3548,
          "referenceAllele": "A",
          "start": 3547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Asn1081Ser",
        "hgvsWellDefined": "ENSP00000278616.4:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3392,
          "referenceAllele": "A",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.3392A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3391,
          "referenceAllele": "A",
          "start": 3390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:p.Asn1081Ser",
        "hgvsWellDefined": "ENSP00000435747.2:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3209,
          "referenceAllele": "A",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.3077A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:p.Asn1026Ser",
        "hgvsWellDefined": "ENSP00000502563.1:p.Asn1026Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3392,
          "referenceAllele": "A",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Asn1081Ser",
        "hgvsWellDefined": "ENSP00000501606.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.3242A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.3242A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Asn1081Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Asn1081Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3627,
          "referenceAllele": "A",
          "start": 3626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Asn1081Ser",
        "hgvsWellDefined": "ENSP00000278616.4:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3431,
          "referenceAllele": "A",
          "start": 3430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Asn1081Ser",
        "hgvsWellDefined": "ENSP00000388058.2:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3975,
          "referenceAllele": "A",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.5:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.1:p.Asn1081Ser",
        "hgvsWellDefined": "ENSP00000435747.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353439"
    },
    {
      "@id": "http://reg.genome.network/allele/PA294248",
      "coordinates": [
        {
          "allele": "G",
          "end": 3627,
          "referenceAllele": "A",
          "start": 3626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.3242A>G",
        "LRG_135t1:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Asn1081Ser",
        "hgvsWellDefined": "NP_000042.3:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3450,
          "referenceAllele": "A",
          "start": 3449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Asn1081Ser",
        "hgvsWellDefined": "XP_005271618.2:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3759,
          "referenceAllele": "A",
          "start": 3758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Asn1081Ser",
        "hgvsWellDefined": "XP_005271619.2:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3382,
          "referenceAllele": "A",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Asn1081Ser",
        "hgvsWellDefined": "XP_006718906.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3470,
          "referenceAllele": "A",
          "start": 3469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Asn1081Ser",
        "hgvsWellDefined": "XP_011541142.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4153,
          "referenceAllele": "A",
          "start": 4152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Asn1081Ser",
        "hgvsWellDefined": "XP_011541143.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3197,
          "referenceAllele": "A",
          "start": 3196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.3077A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Asn1026Ser",
        "hgvsWellDefined": "XP_011541144.1:p.Asn1026Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3959,
          "referenceAllele": "A",
          "start": 3958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Asn1081Ser",
        "hgvsWellDefined": "XP_011541145.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2743,
          "referenceAllele": "A",
          "start": 2742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.2198A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Asn733Ser",
        "hgvsWellDefined": "XP_011541146.1:p.Asn733Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2090,
          "referenceAllele": "A",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.1934A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Asn645Ser",
        "hgvsWellDefined": "XP_011541147.1:p.Asn645Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3959,
          "referenceAllele": "A",
          "start": 3958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542846.1:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541148.1:p.Asn1081Ser",
        "hgvsWellDefined": "XP_011541148.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916032593",
      "coordinates": [
        {
          "allele": "G",
          "end": 3715,
          "referenceAllele": "A",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Asn1081Ser",
        "hgvsWellDefined": "NP_001338763.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3761,
          "referenceAllele": "A",
          "start": 3760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Asn1081Ser",
        "hgvsWellDefined": "XP_005271619.2:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3394,
          "referenceAllele": "A",
          "start": 3393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Asn1081Ser",
        "hgvsWellDefined": "XP_006718906.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3482,
          "referenceAllele": "A",
          "start": 3481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Asn1081Ser",
        "hgvsWellDefined": "XP_011541142.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3457,
          "referenceAllele": "A",
          "start": 3456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.3077A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Asn1026Ser",
        "hgvsWellDefined": "XP_011541144.1:p.Asn1026Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3975,
          "referenceAllele": "A",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Asn1081Ser",
        "hgvsWellDefined": "XP_011541145.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3578,
          "referenceAllele": "A",
          "start": 3577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.2198A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Asn733Ser",
        "hgvsWellDefined": "XP_011541146.1:p.Asn733Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2090,
          "referenceAllele": "A",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.1934A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Asn645Ser",
        "hgvsWellDefined": "XP_011541147.1:p.Asn645Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4185,
          "referenceAllele": "A",
          "start": 4184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Asn1081Ser",
        "hgvsWellDefined": "XP_016873278.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3582,
          "referenceAllele": "A",
          "start": 3581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Asn1081Ser",
        "hgvsWellDefined": "XP_016873279.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3975,
          "referenceAllele": "A",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017791.1:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873280.1:p.Asn1081Ser",
        "hgvsWellDefined": "XP_016873280.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3975,
          "referenceAllele": "A",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017792.2:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873281.1:p.Asn1081Ser",
        "hgvsWellDefined": "XP_016873281.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3975,
          "referenceAllele": "A",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XR_002957150.1:n.3975A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916032593",
      "coordinates": [
        {
          "allele": "G",
          "end": 3480,
          "referenceAllele": "A",
          "start": 3479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Asn1081Ser",
        "hgvsWellDefined": "NP_001338763.1:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA294248",
      "coordinates": [
        {
          "allele": "G",
          "end": 3392,
          "referenceAllele": "A",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.3242A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Asn1081Ser",
        "hgvsWellDefined": "NP_000042.3:p.Asn1081Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.3242A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.3242A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Asn1081Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Asn1081Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}