{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA011455",
  "communityStandardTitle": [
    "NM_000179.3(MSH6):c.3053_3054del (p.Leu1018HisfsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94808[alleleid]",
        "alleleId": 94808,
        "preferredName": "NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89334",
        "RCV": [
          "RCV000009489",
          "RCV000074799",
          "RCV001018330",
          "RCV002514331",
          "RCV003460675"
        ],
        "variationId": 89334
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48028175_48028176del?assembly=hg19",
        "id": "chr2:g.48028175_48028176del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47801036_47801037del?assembly=hg38",
        "id": "chr2:g.47801036_47801037del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63751407",
        "rs": 63751407
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 47801037,
          "referenceAllele": "TC",
          "start": 47801035
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47801036_47801037del",
        "CM000664.2:g.47801036_47801037del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 48028176,
          "referenceAllele": "TC",
          "start": 48028174
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48028175_48028176del",
        "CM000664.1:g.48028175_48028176del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 47881680,
          "referenceAllele": "TC",
          "start": 47881678
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47881679_47881680del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 22891,
          "referenceAllele": "TC",
          "start": 22889
        }
      ],
      "hgvs": [
        "NG_007111.1:g.22890_22891del",
        "LRG_219:g.22890_22891del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2852,
          "referenceAllele": "TC",
          "start": 2850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000411819.2:c.2756_2757del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406248.2:p.Leu919HisfsTer4",
        "hgvsWellDefined": "ENSP00000406248.2:p.[Leu919_Leu930delinsHis;Asp932del;Met934_Gln949del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2984,
          "referenceAllele": "TC",
          "start": 2982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000420813.6:c.2756_2757del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390382.2:p.Leu919HisfsTer4",
        "hgvsWellDefined": "ENSP00000390382.2:p.[Leu919_Leu930delinsHis;Asp932del;Met934_Gln949del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2988,
          "referenceAllele": "TC",
          "start": 2986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000455383.6:c.2756_2757del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397484.2:p.Leu919HisfsTer4",
        "hgvsWellDefined": "ENSP00000397484.2:p.[Leu919_Leu930delinsHis;Asp932del;Met934_Gln949del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914094"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3138,
          "referenceAllele": "TC",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.2:c.3053_3054del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.2:p.Leu1018HisfsTer4",
        "hgvsWellDefined": "ENSP00000514752.2:p.[Leu1018_Leu1029delinsHis;Asp1031del;Met1033_Gln1048del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914477"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3138,
          "referenceAllele": "TC",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000699999.1:n.3137_3138del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910870"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1689,
          "endIntronDirection": "+",
          "endIntronOffset": 1448,
          "referenceAllele": "TC",
          "start": 1689,
          "startIntronDirection": "+",
          "startIntronOffset": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700000.1:c.1606+1447_1606+1448del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514749.1:n.1606+1447_1606+1448del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910871"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3132,
          "referenceAllele": "TC",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700002.1:c.3059_3060del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514750.1:p.Leu1020HisfsTer4",
        "hgvsWellDefined": "ENSP00000514750.1:p.[Leu1020_Leu1031delinsHis;Asp1033del;Met1035_Gln1050del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910873"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 627,
          "endIntronDirection": "-",
          "endIntronOffset": 2382,
          "referenceAllele": "TC",
          "start": 627,
          "startIntronDirection": "-",
          "startIntronOffset": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700003.1:c.628-2384_628-2383del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514751.1:n.628-2384_628-2383del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910874"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2211,
          "referenceAllele": "TC",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.1:c.2210_2211del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.1:p.Leu737HisfsTer4",
        "hgvsWellDefined": "ENSP00000514752.1:p.[Leu737_Leu748delinsHis;Asp750del;Met752_Gln767del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910875"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3143,
          "referenceAllele": "TC",
          "start": 3141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.11:c.3053_3054del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.5:p.Leu1018HisfsTer4",
        "hgvsWellDefined": "ENSP00000234420.5:p.[Leu1018_Leu1029delinsHis;Asp1031del;Met1033_Gln1048del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.3053_3054del"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.3053_3054del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Leu1018HisfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Leu1018HisfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2715,
          "referenceAllele": "TC",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.6:c.2663_2664del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Leu888HisfsTer4",
        "hgvsWellDefined": "ENSP00000446475.1:p.[Leu888_Leu899delinsHis;Asp901del;Met903_Gln918del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3437,
          "referenceAllele": "TC",
          "start": 3435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000652107.1:c.2756_2757del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498629.1:p.Leu919HisfsTer4",
        "hgvsWellDefined": "ENSP00000498629.1:p.[Leu919_Leu930delinsHis;Asp932del;Met934_Gln949del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772029"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2875,
          "referenceAllele": "TC",
          "start": 2873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673637.1:c.2756_2757del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501310.1:p.Leu919HisfsTer4",
        "hgvsWellDefined": "ENSP00000501310.1:p.[Leu919_Leu930delinsHis;Asp932del;Met934_Gln949del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773747"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3206,
          "referenceAllele": "TC",
          "start": 3204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.9:c.3053_3054del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.4:p.Leu1018HisfsTer4",
        "hgvsWellDefined": "ENSP00000234420.4:p.[Leu1018_Leu1029delinsHis;Asp1031del;Met1033_Gln1048del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247309"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 7161,
          "referenceAllele": "GA",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 7159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000405808.5:c.169+7160_169+7161del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385127.1:n.169+7160_169+7161del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247134"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 6960,
          "referenceAllele": "GA",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 6958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000434234.5:c.*124+6959_*124+6960del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402692.1:n.*124+6959_*124+6960del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292930"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3036,
          "referenceAllele": "TC",
          "start": 3034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000445503.5:c.*2400_*2401del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405294.1:n.*2400_*2401del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298311"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2941,
          "referenceAllele": "TC",
          "start": 2939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000538136.1:c.2147_2148del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438580.1:p.Leu716HisfsTer4",
        "hgvsWellDefined": "ENSP00000438580.1:p.[Leu716_Leu727delinsHis;Asp729del;Met731_Gln746del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247195"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2816,
          "referenceAllele": "TC",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.5:c.2663_2664del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Leu888HisfsTer4",
        "hgvsWellDefined": "ENSP00000446475.1:p.[Leu888_Leu899delinsHis;Asp901del;Met903_Gln918del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247186"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3036,
          "referenceAllele": "TC",
          "start": 3034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000614496.4:c.2147_2148del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477844.1:p.Leu716HisfsTer4",
        "hgvsWellDefined": "ENSP00000477844.1:p.[Leu716_Leu727delinsHis;Asp729del;Met731_Gln746del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402225"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3134,
          "referenceAllele": "TC",
          "start": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000616033.4:c.3050_3051del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480261.1:p.Leu1017HisfsTer4",
        "hgvsWellDefined": "ENSP00000480261.1:p.[Leu1017_Leu1028delinsHis;Asp1030del;Met1032_Gln1047del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402884"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3206,
          "referenceAllele": "TC",
          "start": 3204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000622629.4:c.-44_-43del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482078.1:n.-44_-43del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405814"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3206,
          "referenceAllele": "TC",
          "start": 3204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.2:c.3053_3054del",
        "LRG_219t1:c.3053_3054del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Leu1018HisfsTer4",
        "hgvsWellDefined": "NP_000170.1:p.[Leu1018_Leu1029delinsHis;Asp1031del;Met1033_Gln1048del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006241"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2816,
          "referenceAllele": "TC",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.1:c.2663_2664del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Leu888HisfsTer4",
        "hgvsWellDefined": "NP_001268421.1:p.[Leu888_Leu899delinsHis;Asp901del;Met903_Gln918del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021654"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3036,
          "referenceAllele": "TC",
          "start": 3034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.1:c.2147_2148del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Leu716HisfsTer4",
        "hgvsWellDefined": "NP_001268422.1:p.[Leu716_Leu727delinsHis;Asp729del;Met731_Gln746del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2941,
          "referenceAllele": "TC",
          "start": 2939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.1:c.2147_2148del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Leu716HisfsTer4",
        "hgvsWellDefined": "NP_001268423.1:p.[Leu716_Leu727delinsHis;Asp729del;Met731_Gln746del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021656"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2852,
          "referenceAllele": "TC",
          "start": 2850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_005264271.1:c.2756_2757del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264328.1:p.Leu919HisfsTer4",
        "hgvsWellDefined": "XP_005264328.1:p.[Leu919_Leu930delinsHis;Asp932del;Met934_Gln949del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064144"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2913,
          "referenceAllele": "TC",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532798.1:c.2870_2871del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531100.1:p.Leu957HisfsTer4",
        "hgvsWellDefined": "XP_011531100.1:p.[Leu957_Leu968delinsHis;Asp970del;Met972_Gln987del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2988,
          "referenceAllele": "TC",
          "start": 2986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532799.1:c.2756_2757del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531101.1:p.Leu919HisfsTer4",
        "hgvsWellDefined": "XP_011531101.1:p.[Leu919_Leu930delinsHis;Asp932del;Met934_Gln949del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099825"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2869,
          "referenceAllele": "TC",
          "start": 2867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532800.1:c.2756_2757del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531102.1:p.Leu919HisfsTer4",
        "hgvsWellDefined": "XP_011531102.1:p.[Leu919_Leu930delinsHis;Asp932del;Met934_Gln949del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099826"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3143,
          "referenceAllele": "TC",
          "start": 3141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452819.1:c.3053_3054del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308587.1:p.Leu1018HisfsTer4",
        "hgvsWellDefined": "XP_024308587.1:p.[Leu1018_Leu1029delinsHis;Asp1031del;Met1033_Gln1048del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586209"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2913,
          "referenceAllele": "TC",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452820.1:c.2870_2871del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308588.1:p.Leu957HisfsTer4",
        "hgvsWellDefined": "XP_024308588.1:p.[Leu957_Leu968delinsHis;Asp970del;Met972_Gln987del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2988,
          "referenceAllele": "TC",
          "start": 2986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452821.1:c.2756_2757del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308589.1:p.Leu919HisfsTer4",
        "hgvsWellDefined": "XP_024308589.1:p.[Leu919_Leu930delinsHis;Asp932del;Met934_Gln949del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586211"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2940,
          "referenceAllele": "TC",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452822.1:c.2147_2148del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308590.1:p.Leu716HisfsTer4",
        "hgvsWellDefined": "XP_024308590.1:p.[Leu716_Leu727delinsHis;Asp729del;Met731_Gln746del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3143,
          "referenceAllele": "TC",
          "start": 3141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.3:c.3053_3054del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Leu1018HisfsTer4",
        "hgvsWellDefined": "NP_000170.1:p.[Leu1018_Leu1029delinsHis;Asp1031del;Met1033_Gln1048del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.3053_3054del"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.3053_3054del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Leu1018HisfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Leu1018HisfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2753,
          "referenceAllele": "TC",
          "start": 2751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.2:c.2663_2664del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Leu888HisfsTer4",
        "hgvsWellDefined": "NP_001268421.1:p.[Leu888_Leu899delinsHis;Asp901del;Met903_Gln918del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715702"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2973,
          "referenceAllele": "TC",
          "start": 2971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.2:c.2147_2148del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Leu716HisfsTer4",
        "hgvsWellDefined": "NP_001268422.1:p.[Leu716_Leu727delinsHis;Asp729del;Met731_Gln746del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715703"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2941,
          "referenceAllele": "TC",
          "start": 2939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.2:c.2147_2148del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Leu716HisfsTer4",
        "hgvsWellDefined": "NP_001268423.1:p.[Leu716_Leu727delinsHis;Asp729del;Met731_Gln746del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715704"
    }
  ],
  "type": "nucleotide"
}