{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2388161240",
  "communityStandardTitle": [
    "NM_001352514.2(HLCS):c.1939_1940delinsGC (p.Ala647=)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "GC",
          "end": 36767239,
          "referenceAllele": "GC",
          "start": 36767237
        }
      ],
      "hgvs": [
        "NC_000021.9:g.36767238_36767239delinsGC",
        "CM000683.2:g.36767238_36767239delinsGC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "GC",
          "end": 38139540,
          "referenceAllele": "GC",
          "start": 38139538
        }
      ],
      "hgvs": [
        "NC_000021.8:g.38139539_38139540delinsGC",
        "CM000683.1:g.38139539_38139540delinsGC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "GC",
          "end": 37061410,
          "referenceAllele": "GC",
          "start": 37061408
        }
      ],
      "hgvs": [
        "NC_000021.7:g.37061409_37061410delinsGC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 227998,
          "referenceAllele": "GC",
          "start": 227996
        }
      ],
      "hgvs": [
        "NG_016193.1:g.227997_227998delinsGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002999"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 228157,
          "referenceAllele": "GC",
          "start": 228155
        }
      ],
      "hgvs": [
        "NG_016193.2:g.228156_228157delinsGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616215"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1971,
          "referenceAllele": "GC",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000674895.3:c.1939_1940delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502087.2:p.Ala647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826898",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674895.3:c.1939_1940delinsGC"
          },
          "RefSeq": {
            "hgvs": "NM_001352514.2:c.1939_1940delinsGC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502087.2:p.Ala647="
          },
          "RefSeq": {
            "hgvs": "NP_001339443.1:p.Ala647="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1971,
          "referenceAllele": "GC",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000674895.2:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502087.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774785"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1822,
          "referenceAllele": "GC",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000675057.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501832.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774931"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1894,
          "referenceAllele": "GC",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000675307.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501750.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775144"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1970,
          "referenceAllele": "GC",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000336648.8:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338387.3:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260338"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 2730,
          "referenceAllele": "GC",
          "start": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000399120.5:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382071.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278551"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 2072,
          "referenceAllele": "GC",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "ENST00000612277.4:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479939.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401237"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1979,
          "referenceAllele": "GC",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.6:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006473"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 2913,
          "referenceAllele": "GC",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018238"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 2072,
          "referenceAllele": "GC",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242785.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229714.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018239"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1941,
          "referenceAllele": "GC",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260953.2:c.1939_1940delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261010.1:p.Ala647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062989"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1941,
          "referenceAllele": "GC",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260954.1:c.1939_1940delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261011.1:p.Ala647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062990"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1812,
          "referenceAllele": "GC",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260955.2:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261012.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062991"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1988,
          "referenceAllele": "GC",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_005260956.2:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_005261013.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062992"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1926,
          "referenceAllele": "GC",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_006723994.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724057.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075310"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 2104,
          "referenceAllele": "GC",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_006723995.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724058.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075311"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1959,
          "referenceAllele": "GC",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529538.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527840.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096607"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1956,
          "referenceAllele": "GC",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529539.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527841.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096608"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1791,
          "referenceAllele": "GC",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529541.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527843.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096610"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 2128,
          "referenceAllele": "GC",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.7:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510791"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 2947,
          "referenceAllele": "GC",
          "start": 2945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.2:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511912"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 2102,
          "referenceAllele": "GC",
          "start": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242785.2:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229714.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511913"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1992,
          "referenceAllele": "GC",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352514.1:c.1939_1940delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339443.1:p.Ala647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520953"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1982,
          "referenceAllele": "GC",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352515.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339444.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520954"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 2002,
          "referenceAllele": "GC",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352516.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339445.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520955"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1956,
          "referenceAllele": "GC",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352517.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339446.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520956"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1815,
          "referenceAllele": "GC",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352518.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339447.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520957"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1982,
          "referenceAllele": "GC",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148020.1:n.1981_1982delinsGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530994"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1956,
          "referenceAllele": "GC",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148021.1:n.1955_1956delinsGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530995"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1965,
          "referenceAllele": "GC",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_011529539.3:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527841.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549542"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1762,
          "referenceAllele": "GC",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_017028330.1:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883819.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578098"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1680,
          "referenceAllele": "GC",
          "start": 1678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_024452065.1:c.1327_1328delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307833.1:p.Ala443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585569"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1745,
          "referenceAllele": "GC",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XM_024452066.1:c.1327_1328delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307834.1:p.Ala443="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585570"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1941,
          "referenceAllele": "GC",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754835.1:n.1940_1941delinsGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600833"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1941,
          "referenceAllele": "GC",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754836.1:n.1940_1941delinsGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600834"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1941,
          "referenceAllele": "GC",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754837.2:n.1940_1941delinsGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600835"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1990,
          "referenceAllele": "GC",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "XR_001754840.1:n.1989_1990delinsGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600836"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1945,
          "referenceAllele": "GC",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_000411.8:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_000402.3:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674833"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 2926,
          "referenceAllele": "GC",
          "start": 2924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001242784.3:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229713.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680119"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1971,
          "referenceAllele": "GC",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352514.2:c.1939_1940delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339443.1:p.Ala647="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689292",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674895.3:c.1939_1940delinsGC"
          },
          "RefSeq": {
            "hgvs": "NM_001352514.2:c.1939_1940delinsGC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502087.2:p.Ala647="
          },
          "RefSeq": {
            "hgvs": "NP_001339443.1:p.Ala647="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1799,
          "referenceAllele": "GC",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352515.2:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339444.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689293"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 2002,
          "referenceAllele": "GC",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352516.2:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339445.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689294"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1799,
          "referenceAllele": "GC",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NR_148020.2:n.1798_1799delinsGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704672"
    },
    {
      "coordinates": [
        {
          "allele": "GC",
          "end": 1815,
          "referenceAllele": "GC",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004976",
      "geneNCBI_id": 3141,
      "geneSymbol": "HLCS",
      "hgvs": [
        "NM_001352518.2:c.1498_1499delinsGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339447.1:p.Ala500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720071"
    }
  ],
  "type": "nucleotide"
}