{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA197532",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.7157C>A (p.Ala2386Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183381[alleleid]",
        "alleleId": 183381,
        "preferredName": "NM_000051.4(ATM):c.7157C>A (p.Ala2386Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187391",
        "RCV": [
          "RCV000167115",
          "RCV000487239",
          "RCV000627922"
        ],
        "variationId": 187391
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108199815C>A?assembly=hg19",
        "id": "chr11:g.108199815C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108329088C>A?assembly=hg38",
        "id": "chr11:g.108329088C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786203697",
        "rs": 786203697
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108199815-C-A?dataset=gnomad_r2_1",
        "id": "11-108199815-C-A",
        "variant": "11:108199815 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108329088-C-A?dataset=gnomad_r3",
        "id": "11-108329088-C-A",
        "variant": "11:108329088 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108329088-C-A?dataset=gnomad_r4",
        "id": "11-108329088-C-A",
        "variant": "11:108329088 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108329088,
          "referenceAllele": "C",
          "start": 108329087
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108329088C>A",
        "CM000673.2:g.108329088C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 108199815,
          "referenceAllele": "C",
          "start": 108199814
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108199815C>A",
        "CM000673.1:g.108199815C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 107705025,
          "referenceAllele": "C",
          "start": 107705024
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107705025C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111257,
          "referenceAllele": "C",
          "start": 111256
        }
      ],
      "hgvs": [
        "NG_009830.1:g.111257C>A",
        "LRG_135:g.111257C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 145745,
          "referenceAllele": "G",
          "start": 145744
        }
      ],
      "hgvs": [
        "NG_054724.1:g.145745G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617495"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7639,
          "referenceAllele": "C",
          "start": 7638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Ala2386Glu",
        "hgvsWellDefined": "ENSP00000388058.2:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7285,
          "referenceAllele": "C",
          "start": 7284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*6628C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*6628C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7463,
          "referenceAllele": "C",
          "start": 7462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Ala2386Glu",
        "hgvsWellDefined": "ENSP00000278616.4:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1576,
          "referenceAllele": "C",
          "start": 1575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525056.2:n.1576C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 114,
          "referenceAllele": "C",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525537.3:n.114C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1914,
          "referenceAllele": "C",
          "start": 1913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682286.1:n.1914C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1575,
          "referenceAllele": "C",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682302.1:n.1575C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8641,
          "referenceAllele": "C",
          "start": 8640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.8641C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2381,
          "referenceAllele": "C",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683524.1:n.2381C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2871,
          "referenceAllele": "C",
          "start": 2870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684152.1:n.2871C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1620,
          "referenceAllele": "C",
          "start": 1619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684447.1:n.1620C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7008,
          "referenceAllele": "C",
          "start": 7007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.*2221C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:n.*2221C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7062,
          "referenceAllele": "C",
          "start": 7061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.*2292C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:n.*2292C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7307,
          "referenceAllele": "C",
          "start": 7306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Ala2386Glu",
        "hgvsWellDefined": "ENSP00000501606.1:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.7157C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.7157C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Ala2386Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Ala2386Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7542,
          "referenceAllele": "C",
          "start": 7541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Ala2386Glu",
        "hgvsWellDefined": "ENSP00000278616.4:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7346,
          "referenceAllele": "C",
          "start": 7345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Ala2386Glu",
        "hgvsWellDefined": "ENSP00000388058.2:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3372,
          "referenceAllele": "C",
          "start": 3371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000524792.5:n.3372C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525537.2:n.433C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 20016,
          "referenceAllele": "G",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 20017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000525729.5:c.641-20017G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433395.1:n.641-20017G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 182,
          "referenceAllele": "C",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527389.2:n.182C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2561,
          "referenceAllele": "C",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000533690.5:n.2561C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA197534",
      "coordinates": [
        {
          "allele": "A",
          "end": 7542,
          "referenceAllele": "C",
          "start": 7541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.7157C>A",
        "LRG_135t1:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Ala2386Glu",
        "hgvsWellDefined": "NP_000042.3:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7365,
          "referenceAllele": "C",
          "start": 7364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Ala2386Glu",
        "hgvsWellDefined": "XP_005271618.2:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7674,
          "referenceAllele": "C",
          "start": 7673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Ala2386Glu",
        "hgvsWellDefined": "XP_005271619.2:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7297,
          "referenceAllele": "C",
          "start": 7296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Ala2386Glu",
        "hgvsWellDefined": "XP_006718906.1:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3182,
          "referenceAllele": "C",
          "start": 3181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.1:c.3113C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Ala1038Glu",
        "hgvsWellDefined": "XP_006718908.1:p.Ala1038Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7385,
          "referenceAllele": "C",
          "start": 7384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Ala2386Glu",
        "hgvsWellDefined": "XP_011541142.1:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8068,
          "referenceAllele": "C",
          "start": 8067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Ala2386Glu",
        "hgvsWellDefined": "XP_011541143.1:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7112,
          "referenceAllele": "C",
          "start": 7111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.6992C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Ala2331Glu",
        "hgvsWellDefined": "XP_011541144.1:p.Ala2331Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7874,
          "referenceAllele": "C",
          "start": 7873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Ala2386Glu",
        "hgvsWellDefined": "XP_011541145.1:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6658,
          "referenceAllele": "C",
          "start": 6657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.6113C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Ala2038Glu",
        "hgvsWellDefined": "XP_011541146.1:p.Ala2038Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6005,
          "referenceAllele": "C",
          "start": 6004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.5849C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Ala1950Glu",
        "hgvsWellDefined": "XP_011541147.1:p.Ala1950Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2268,
          "referenceAllele": "C",
          "start": 2267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542847.1:c.2228C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541149.1:p.Ala743Glu",
        "hgvsWellDefined": "XP_011541149.1:p.Ala743Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 20016,
          "referenceAllele": "G",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 20017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.1:c.641-20017G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-20017G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 6132,
          "referenceAllele": "G",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 6131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.1:c.*38+6132G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.*38+6132G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916034218",
      "coordinates": [
        {
          "allele": "A",
          "end": 7630,
          "referenceAllele": "C",
          "start": 7629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Ala2386Glu",
        "hgvsWellDefined": "NP_001338763.1:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7676,
          "referenceAllele": "C",
          "start": 7675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Ala2386Glu",
        "hgvsWellDefined": "XP_005271619.2:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7309,
          "referenceAllele": "C",
          "start": 7308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Ala2386Glu",
        "hgvsWellDefined": "XP_006718906.1:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3183,
          "referenceAllele": "C",
          "start": 3182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.2:c.3113C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Ala1038Glu",
        "hgvsWellDefined": "XP_006718908.1:p.Ala1038Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7397,
          "referenceAllele": "C",
          "start": 7396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Ala2386Glu",
        "hgvsWellDefined": "XP_011541142.1:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7372,
          "referenceAllele": "C",
          "start": 7371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.6992C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Ala2331Glu",
        "hgvsWellDefined": "XP_011541144.1:p.Ala2331Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7890,
          "referenceAllele": "C",
          "start": 7889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Ala2386Glu",
        "hgvsWellDefined": "XP_011541145.1:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7493,
          "referenceAllele": "C",
          "start": 7492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.6113C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Ala2038Glu",
        "hgvsWellDefined": "XP_011541146.1:p.Ala2038Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6005,
          "referenceAllele": "C",
          "start": 6004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.5849C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Ala1950Glu",
        "hgvsWellDefined": "XP_011541147.1:p.Ala1950Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8100,
          "referenceAllele": "C",
          "start": 8099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Ala2386Glu",
        "hgvsWellDefined": "XP_016873278.1:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7497,
          "referenceAllele": "C",
          "start": 7496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Ala2386Glu",
        "hgvsWellDefined": "XP_016873279.1:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "endIntronDirection": "-",
          "endIntronOffset": 20016,
          "referenceAllele": "G",
          "start": 708,
          "startIntronDirection": "-",
          "startIntronOffset": 20017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.2:c.641-20017G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-20017G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "endIntronDirection": "+",
          "endIntronOffset": 6132,
          "referenceAllele": "G",
          "start": 835,
          "startIntronDirection": "+",
          "startIntronOffset": 6131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.2:c.*38+6132G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.*38+6132G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916034218",
      "coordinates": [
        {
          "allele": "A",
          "end": 7395,
          "referenceAllele": "C",
          "start": 7394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Ala2386Glu",
        "hgvsWellDefined": "NP_001338763.1:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA197534",
      "coordinates": [
        {
          "allele": "A",
          "end": 7307,
          "referenceAllele": "C",
          "start": 7306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.7157C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Ala2386Glu",
        "hgvsWellDefined": "NP_000042.3:p.Ala2386Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.7157C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.7157C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Ala2386Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Ala2386Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}