{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3252644638",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.2337del (p.Met779IlefsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4734246[alleleid]",
        "alleleId": 4734246,
        "preferredName": "NM_000051.4(ATM):c.2337del (p.Met779fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4617483",
        "RCV": [
          "RCV006352061"
        ],
        "variationId": 4617483
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 108257567,
          "referenceAllele": "G",
          "start": 108257566
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108257567del",
        "CM000673.2:g.108257567del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 108128294,
          "referenceAllele": "G",
          "start": 108128293
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108128294del",
        "CM000673.1:g.108128294del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 107633504,
          "referenceAllele": "G",
          "start": 107633503
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107633504del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 39736,
          "referenceAllele": "G",
          "start": 39735
        }
      ],
      "hgvs": [
        "NG_009830.1:g.39736del",
        "LRG_135:g.39736del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2819,
          "referenceAllele": "G",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2465,
          "referenceAllele": "G",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*1808del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*1808del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2643,
          "referenceAllele": "G",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2471,
          "referenceAllele": "G",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682516.1:n.2471del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827506"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2487,
          "referenceAllele": "G",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.2487del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1832,
          "referenceAllele": "G",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683605.1:n.1832del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2480,
          "referenceAllele": "G",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684037.1:c.*1272del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508245.1:n.*1272del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828998"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2486,
          "referenceAllele": "G",
          "start": 2485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:p.Met779IlefsTer9",
        "hgvsWellDefined": "ENSP00000435747.2:p.[Met779_Leu782delinsIle;Thr784_Leu787del;Asn789_Ile798delinsTyrValHisVal;Ser800_Ser809del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2304,
          "referenceAllele": "G",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.2172del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:p.Met724IlefsTer9",
        "hgvsWellDefined": "ENSP00000502563.1:p.[Met724_Leu727delinsIle;Thr729_Leu732del;Asn734_Ile743delinsTyrValHisVal;Ser745_Ser754del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2487,
          "referenceAllele": "G",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.2337del"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.2337del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Met779IlefsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Met779IlefsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2722,
          "referenceAllele": "G",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2526,
          "referenceAllele": "G",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3070,
          "referenceAllele": "G",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.5:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.1:p.Met779IlefsTer9",
        "hgvsWellDefined": "ENSP00000435747.1:p.[Met779_Leu782delinsIle;Thr784_Leu787del;Asn789_Ile798delinsTyrValHisVal;Ser800_Ser809del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353439"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2722,
          "referenceAllele": "G",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.2337del",
        "LRG_135t1:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2545,
          "referenceAllele": "G",
          "start": 2544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2854,
          "referenceAllele": "G",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2477,
          "referenceAllele": "G",
          "start": 2476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2565,
          "referenceAllele": "G",
          "start": 2564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3248,
          "referenceAllele": "G",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2292,
          "referenceAllele": "G",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.2172del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Met724IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3054,
          "referenceAllele": "G",
          "start": 3053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1838,
          "referenceAllele": "G",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.1293del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Met431IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.1029del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Met343IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3054,
          "referenceAllele": "G",
          "start": 3053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542846.1:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541148.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109775"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2810,
          "referenceAllele": "G",
          "start": 2809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2856,
          "referenceAllele": "G",
          "start": 2855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2489,
          "referenceAllele": "G",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2577,
          "referenceAllele": "G",
          "start": 2576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2552,
          "referenceAllele": "G",
          "start": 2551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.2172del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Met724IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3070,
          "referenceAllele": "G",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2673,
          "referenceAllele": "G",
          "start": 2672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.1293del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Met431IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1185,
          "referenceAllele": "G",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.1029del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Met343IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3280,
          "referenceAllele": "G",
          "start": 3279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2677,
          "referenceAllele": "G",
          "start": 2676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3070,
          "referenceAllele": "G",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017791.1:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873280.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569899"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3070,
          "referenceAllele": "G",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017792.2:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873281.1:p.Met779IlefsTer9",
        "hgvsWellDefined": "XP_016873281.1:p.[Met779_Leu782delinsIle;Thr784_Leu787del;Asn789_Ile798delinsTyrValHisVal;Ser800_Ser809del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569900"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3070,
          "referenceAllele": "G",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XR_002957150.1:n.3070del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603286"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2575,
          "referenceAllele": "G",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2487,
          "referenceAllele": "G",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.2337del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Met779IlefsTer9"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.2337del"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.2337del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Met779IlefsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Met779IlefsTer9"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}