{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA166697",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151598[alleleid]",
        "alleleId": 151598,
        "preferredName": "NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141884",
        "RCV": [
          "RCV000130581",
          "RCV000222514",
          "RCV000467455",
          "RCV001257474",
          "RCV002225432",
          "RCV002307403"
        ],
        "variationId": 141884
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-108160371-G-A",
        "id": "11-108160371-G-A",
        "variant": "11:108160371 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108160371G>A?assembly=hg19",
        "id": "chr11:g.108160371G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108289644G>A?assembly=hg38",
        "id": "chr11:g.108289644G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2229021",
        "rs": 2229021
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108160371-G-A?dataset=gnomad_r2_1",
        "id": "11-108160371-G-A",
        "variant": "11:108160371 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108289644-G-A?dataset=gnomad_r3",
        "id": "11-108289644-G-A",
        "variant": "11:108289644 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108289644-G-A?dataset=gnomad_r4",
        "id": "11-108289644-G-A",
        "variant": "11:108289644 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108289644,
          "referenceAllele": "G",
          "start": 108289643
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108289644G>A",
        "CM000673.2:g.108289644G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108160371,
          "referenceAllele": "G",
          "start": 108160370
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108160371G>A",
        "CM000673.1:g.108160371G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 107665581,
          "referenceAllele": "G",
          "start": 107665580
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107665581G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 71813,
          "referenceAllele": "G",
          "start": 71812
        }
      ],
      "hgvs": [
        "NG_009830.1:g.71813G>A",
        "LRG_135:g.71813G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4761,
          "referenceAllele": "G",
          "start": 4760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Ala1427Thr",
        "hgvsWellDefined": "ENSP00000388058.2:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4407,
          "referenceAllele": "G",
          "start": 4406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*3750G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*3750G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4585,
          "referenceAllele": "G",
          "start": 4584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Ala1427Thr",
        "hgvsWellDefined": "ENSP00000278616.4:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "G",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000533733.6:n.1542G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4429,
          "referenceAllele": "G",
          "start": 4428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.4429G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4428,
          "referenceAllele": "G",
          "start": 4427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:p.Ala1427Thr",
        "hgvsWellDefined": "ENSP00000435747.2:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4246,
          "referenceAllele": "G",
          "start": 4245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.4114G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:p.Ala1372Thr",
        "hgvsWellDefined": "ENSP00000502563.1:p.Ala1372Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4429,
          "referenceAllele": "G",
          "start": 4428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Ala1427Thr",
        "hgvsWellDefined": "ENSP00000501606.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.4279G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.4279G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Ala1427Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Ala1427Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4664,
          "referenceAllele": "G",
          "start": 4663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Ala1427Thr",
        "hgvsWellDefined": "ENSP00000278616.4:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4468,
          "referenceAllele": "G",
          "start": 4467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Ala1427Thr",
        "hgvsWellDefined": "ENSP00000388058.2:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000524792.5:n.494G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "G",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000531525.2:c.286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434327.2:p.Ala96Thr",
        "hgvsWellDefined": "ENSP00000434327.2:p.Ala96Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 708,
          "referenceAllele": "G",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000533733.5:n.708G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA166699",
      "coordinates": [
        {
          "allele": "A",
          "end": 4664,
          "referenceAllele": "G",
          "start": 4663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.4279G>A",
        "LRG_135t1:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Ala1427Thr",
        "hgvsWellDefined": "NP_000042.3:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4487,
          "referenceAllele": "G",
          "start": 4486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Ala1427Thr",
        "hgvsWellDefined": "XP_005271618.2:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4796,
          "referenceAllele": "G",
          "start": 4795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Ala1427Thr",
        "hgvsWellDefined": "XP_005271619.2:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4419,
          "referenceAllele": "G",
          "start": 4418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Ala1427Thr",
        "hgvsWellDefined": "XP_006718906.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "referenceAllele": "G",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.1:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Ala79Thr",
        "hgvsWellDefined": "XP_006718908.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4507,
          "referenceAllele": "G",
          "start": 4506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Ala1427Thr",
        "hgvsWellDefined": "XP_011541142.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5190,
          "referenceAllele": "G",
          "start": 5189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Ala1427Thr",
        "hgvsWellDefined": "XP_011541143.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4234,
          "referenceAllele": "G",
          "start": 4233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.4114G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Ala1372Thr",
        "hgvsWellDefined": "XP_011541144.1:p.Ala1372Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4996,
          "referenceAllele": "G",
          "start": 4995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Ala1427Thr",
        "hgvsWellDefined": "XP_011541145.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3780,
          "referenceAllele": "G",
          "start": 3779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.3235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Ala1079Thr",
        "hgvsWellDefined": "XP_011541146.1:p.Ala1079Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3127,
          "referenceAllele": "G",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.2971G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Ala991Thr",
        "hgvsWellDefined": "XP_011541147.1:p.Ala991Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4996,
          "referenceAllele": "G",
          "start": 4995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542846.1:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541148.1:p.Ala1427Thr",
        "hgvsWellDefined": "XP_011541148.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916033014",
      "coordinates": [
        {
          "allele": "A",
          "end": 4752,
          "referenceAllele": "G",
          "start": 4751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Ala1427Thr",
        "hgvsWellDefined": "NP_001338763.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4798,
          "referenceAllele": "G",
          "start": 4797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Ala1427Thr",
        "hgvsWellDefined": "XP_005271619.2:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4431,
          "referenceAllele": "G",
          "start": 4430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Ala1427Thr",
        "hgvsWellDefined": "XP_006718906.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 305,
          "referenceAllele": "G",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.2:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Ala79Thr",
        "hgvsWellDefined": "XP_006718908.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4519,
          "referenceAllele": "G",
          "start": 4518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Ala1427Thr",
        "hgvsWellDefined": "XP_011541142.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4494,
          "referenceAllele": "G",
          "start": 4493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.4114G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Ala1372Thr",
        "hgvsWellDefined": "XP_011541144.1:p.Ala1372Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5012,
          "referenceAllele": "G",
          "start": 5011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Ala1427Thr",
        "hgvsWellDefined": "XP_011541145.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4615,
          "referenceAllele": "G",
          "start": 4614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.3235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Ala1079Thr",
        "hgvsWellDefined": "XP_011541146.1:p.Ala1079Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3127,
          "referenceAllele": "G",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.2971G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Ala991Thr",
        "hgvsWellDefined": "XP_011541147.1:p.Ala991Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5222,
          "referenceAllele": "G",
          "start": 5221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Ala1427Thr",
        "hgvsWellDefined": "XP_016873278.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4619,
          "referenceAllele": "G",
          "start": 4618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Ala1427Thr",
        "hgvsWellDefined": "XP_016873279.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5012,
          "referenceAllele": "G",
          "start": 5011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017791.1:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873280.1:p.Ala1427Thr",
        "hgvsWellDefined": "XP_016873280.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5012,
          "referenceAllele": "G",
          "start": 5011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017792.2:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873281.1:p.Ala1427Thr",
        "hgvsWellDefined": "XP_016873281.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5012,
          "referenceAllele": "G",
          "start": 5011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XR_002957150.1:n.5012G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916033014",
      "coordinates": [
        {
          "allele": "A",
          "end": 4517,
          "referenceAllele": "G",
          "start": 4516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Ala1427Thr",
        "hgvsWellDefined": "NP_001338763.1:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA166699",
      "coordinates": [
        {
          "allele": "A",
          "end": 4429,
          "referenceAllele": "G",
          "start": 4428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.4279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Ala1427Thr",
        "hgvsWellDefined": "NP_000042.3:p.Ala1427Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.4279G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.4279G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Ala1427Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Ala1427Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}