{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042061",
  "communityStandardTitle": [
    "NM_000179.3(MSH6):c.3215_3222del (p.Gly1072ValfsTer18)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358724[alleleid]",
        "alleleId": 358724,
        "preferredName": "NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371822",
        "RCV": [
          "RCV000411508",
          "RCV002323576",
          "RCV003463810"
        ],
        "variationId": 371822
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48030601_48030608del?assembly=hg19",
        "id": "chr2:g.48030601_48030608del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47803462_47803469del?assembly=hg38",
        "id": "chr2:g.47803462_47803469del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517552",
        "rs": 1057517552
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 47803469,
          "referenceAllele": "GTCCTATG",
          "start": 47803461
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47803462_47803469del",
        "CM000664.2:g.47803462_47803469del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 48030608,
          "referenceAllele": "GTCCTATG",
          "start": 48030600
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48030601_48030608del",
        "CM000664.1:g.48030601_48030608del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 47884112,
          "referenceAllele": "GTCCTATG",
          "start": 47884104
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47884105_47884112del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 25323,
          "referenceAllele": "GTCCTATG",
          "start": 25315
        }
      ],
      "hgvs": [
        "NG_007111.1:g.25316_25323del",
        "LRG_219:g.25316_25323del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3020,
          "referenceAllele": "GTCCTATG",
          "start": 3012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000411819.2:c.2918_2925del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406248.2:p.Gly973ValfsTer18",
        "hgvsWellDefined": "ENSP00000406248.2:p.[Gly973_Pro978delinsValSerProSerAsnSer;Ile980_Thr986delinsAlaGlyArgTyr;Phe989del;Glu991del;Lys993_Ser995del;His997_Phe1005delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3152,
          "referenceAllele": "GTCCTATG",
          "start": 3144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000420813.6:c.2918_2925del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390382.2:p.Gly973ValfsTer18",
        "hgvsWellDefined": "ENSP00000390382.2:p.[Gly973_Pro978delinsValSerProSerAsnSer;Ile980_Thr986delinsAlaGlyArgTyr;Phe989del;Glu991del;Lys993_Ser995del;His997_Phe1005delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3156,
          "referenceAllele": "GTCCTATG",
          "start": 3148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000455383.6:c.2918_2925del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397484.2:p.Gly973ValfsTer18",
        "hgvsWellDefined": "ENSP00000397484.2:p.[Gly973_Pro978delinsValSerProSerAsnSer;Ile980_Thr986delinsAlaGlyArgTyr;Phe989del;Glu991del;Lys993_Ser995del;His997_Phe1005delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914094"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3256,
          "endIntronDirection": "-",
          "endIntronOffset": 2148,
          "referenceAllele": "GTCCTATG",
          "start": 3256,
          "startIntronDirection": "-",
          "startIntronOffset": 2156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.2:c.3173-2156_3173-2149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.2:n.3173-2156_3173-2149del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914477"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3306,
          "referenceAllele": "GTCCTATG",
          "start": 3298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000699999.1:n.3299_3306del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910870"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1739,
          "referenceAllele": "GTCCTATG",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700000.1:c.1649_1656del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514749.1:p.Gly550ValfsTer18",
        "hgvsWellDefined": "ENSP00000514749.1:p.[Gly550_Pro555delinsValSerProSerAsnSer;Ile557_Thr563delinsAlaGlyArgTyr;Phe566del;Glu568del;Lys570_Ser572del;His574_Phe582delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910871"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3300,
          "referenceAllele": "GTCCTATG",
          "start": 3292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700002.1:c.3221_3228del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514750.1:p.Gly1074ValfsTer18",
        "hgvsWellDefined": "ENSP00000514750.1:p.[Gly1074_Pro1079delinsValSerProSerAsnSer;Ile1081_Thr1087delinsAlaGlyArgTyr;Phe1090del;Glu1092del;Lys1094_Ser1096del;His1098_Phe1106delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910873"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 677,
          "referenceAllele": "GTCCTATG",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700003.1:c.670_677del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514751.1:p.Val224CysfsTer?",
        "hgvsWellDefined": "ENSP00000514751.1:p.[Met223_Val224insCysArgPro;Val224_Leu225insIle;Leu225_Cys226insLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisPro;Val227_Gln229delinsIleThrLysThrPhePhe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910874"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2329,
          "endIntronDirection": "-",
          "endIntronOffset": 2148,
          "referenceAllele": "GTCCTATG",
          "start": 2329,
          "startIntronDirection": "-",
          "startIntronOffset": 2156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.1:c.2330-2156_2330-2149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.1:n.2330-2156_2330-2149del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910875"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2073,
          "referenceAllele": "GTCCTATG",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700005.1:n.2066_2073del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910876"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2070,
          "referenceAllele": "GTCCTATG",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700006.1:n.2063_2070del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910877"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1227,
          "referenceAllele": "GTCCTATG",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700007.1:n.1220_1227del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910878"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 801,
          "referenceAllele": "GTCCTATG",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700008.1:n.794_801del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910879"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 800,
          "referenceAllele": "GTCCTATG",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700009.1:n.793_800del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910880"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 631,
          "referenceAllele": "GTCCTATG",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700010.1:n.624_631del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910881"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 702,
          "referenceAllele": "GTCCTATG",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700011.1:n.695_702del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910882"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3311,
          "referenceAllele": "GTCCTATG",
          "start": 3303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.11:c.3215_3222del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.5:p.Gly1072ValfsTer18",
        "hgvsWellDefined": "ENSP00000234420.5:p.[Gly1072_Pro1077delinsValSerProSerAsnSer;Ile1079_Thr1085delinsAlaGlyArgTyr;Phe1088del;Glu1090del;Lys1092_Ser1094del;His1096_Phe1104delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.3215_3222del"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.3215_3222del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Gly1072ValfsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Gly1072ValfsTer18"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2883,
          "referenceAllele": "GTCCTATG",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.6:c.2825_2832del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Gly942ValfsTer18",
        "hgvsWellDefined": "ENSP00000446475.1:p.[Gly942_Pro947delinsValSerProSerAsnSer;Ile949_Thr955delinsAlaGlyArgTyr;Phe958del;Glu960del;Lys962_Ser964del;His966_Phe974delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3605,
          "referenceAllele": "GTCCTATG",
          "start": 3597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000652107.1:c.2918_2925del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498629.1:p.Gly973ValfsTer18",
        "hgvsWellDefined": "ENSP00000498629.1:p.[Gly973_Pro978delinsValSerProSerAsnSer;Ile980_Thr986delinsAlaGlyArgTyr;Phe989del;Glu991del;Lys993_Ser995del;His997_Phe1005delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772029"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3043,
          "referenceAllele": "GTCCTATG",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673637.1:c.2918_2925del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501310.1:p.Gly973ValfsTer18",
        "hgvsWellDefined": "ENSP00000501310.1:p.[Gly973_Pro978delinsValSerProSerAsnSer;Ile980_Thr986delinsAlaGlyArgTyr;Phe989del;Glu991del;Lys993_Ser995del;His997_Phe1005delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773747"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3374,
          "referenceAllele": "GTCCTATG",
          "start": 3366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.9:c.3215_3222del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.4:p.Gly1072ValfsTer18",
        "hgvsWellDefined": "ENSP00000234420.4:p.[Gly1072_Pro1077delinsValSerProSerAsnSer;Ile1079_Thr1085delinsAlaGlyArgTyr;Phe1088del;Glu1090del;Lys1092_Ser1094del;His1096_Phe1104delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247309"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 4736,
          "referenceAllele": "ACCATAGG",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 4728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000405808.5:c.169+4729_169+4736del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385127.1:n.169+4729_169+4736del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247134"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 4535,
          "referenceAllele": "ACCATAGG",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 4527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000434234.5:c.*124+4528_*124+4535del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402692.1:n.*124+4528_*124+4535del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292930"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3204,
          "referenceAllele": "GTCCTATG",
          "start": 3196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000445503.5:c.*2562_*2569del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405294.1:n.*2562_*2569del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298311"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3109,
          "referenceAllele": "GTCCTATG",
          "start": 3101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000538136.1:c.2309_2316del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438580.1:p.Gly770ValfsTer18",
        "hgvsWellDefined": "ENSP00000438580.1:p.[Gly770_Pro775delinsValSerProSerAsnSer;Ile777_Thr783delinsAlaGlyArgTyr;Phe786del;Glu788del;Lys790_Ser792del;His794_Phe802delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247195"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2984,
          "referenceAllele": "GTCCTATG",
          "start": 2976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.5:c.2825_2832del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Gly942ValfsTer18",
        "hgvsWellDefined": "ENSP00000446475.1:p.[Gly942_Pro947delinsValSerProSerAsnSer;Ile949_Thr955delinsAlaGlyArgTyr;Phe958del;Glu960del;Lys962_Ser964del;His966_Phe974delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247186"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3204,
          "referenceAllele": "GTCCTATG",
          "start": 3196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000614496.4:c.2309_2316del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477844.1:p.Gly770ValfsTer18",
        "hgvsWellDefined": "ENSP00000477844.1:p.[Gly770_Pro775delinsValSerProSerAsnSer;Ile777_Thr783delinsAlaGlyArgTyr;Phe786del;Glu788del;Lys790_Ser792del;His794_Phe802delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402225"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3374,
          "referenceAllele": "GTCCTATG",
          "start": 3366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000622629.4:c.119_126del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482078.1:p.Gly40ValfsTer18",
        "hgvsWellDefined": "ENSP00000482078.1:p.[Gly40_Pro45delinsValSerProSerAsnSer;Ile47_Thr53delinsAlaGlyArgTyr;Phe56del;Glu58del;Lys60_Ser62del;His64_Phe72delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405814"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3374,
          "referenceAllele": "GTCCTATG",
          "start": 3366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.2:c.3215_3222del",
        "LRG_219t1:c.3215_3222del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Gly1072ValfsTer18",
        "hgvsWellDefined": "NP_000170.1:p.[Gly1072_Pro1077delinsValSerProSerAsnSer;Ile1079_Thr1085delinsAlaGlyArgTyr;Phe1088del;Glu1090del;Lys1092_Ser1094del;His1096_Phe1104delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006241"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2984,
          "referenceAllele": "GTCCTATG",
          "start": 2976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.1:c.2825_2832del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Gly942ValfsTer18",
        "hgvsWellDefined": "NP_001268421.1:p.[Gly942_Pro947delinsValSerProSerAsnSer;Ile949_Thr955delinsAlaGlyArgTyr;Phe958del;Glu960del;Lys962_Ser964del;His966_Phe974delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021654"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3204,
          "referenceAllele": "GTCCTATG",
          "start": 3196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.1:c.2309_2316del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Gly770ValfsTer18",
        "hgvsWellDefined": "NP_001268422.1:p.[Gly770_Pro775delinsValSerProSerAsnSer;Ile777_Thr783delinsAlaGlyArgTyr;Phe786del;Glu788del;Lys790_Ser792del;His794_Phe802delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3109,
          "referenceAllele": "GTCCTATG",
          "start": 3101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.1:c.2309_2316del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Gly770ValfsTer18",
        "hgvsWellDefined": "NP_001268423.1:p.[Gly770_Pro775delinsValSerProSerAsnSer;Ile777_Thr783delinsAlaGlyArgTyr;Phe786del;Glu788del;Lys790_Ser792del;His794_Phe802delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021656"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3020,
          "referenceAllele": "GTCCTATG",
          "start": 3012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_005264271.1:c.2918_2925del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264328.1:p.Gly973ValfsTer18",
        "hgvsWellDefined": "XP_005264328.1:p.[Gly973_Pro978delinsValSerProSerAsnSer;Ile980_Thr986delinsAlaGlyArgTyr;Phe989del;Glu991del;Lys993_Ser995del;His997_Phe1005delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064144"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3081,
          "referenceAllele": "GTCCTATG",
          "start": 3073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532798.1:c.3032_3039del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531100.1:p.Gly1011ValfsTer18",
        "hgvsWellDefined": "XP_011531100.1:p.[Gly1011_Pro1016delinsValSerProSerAsnSer;Ile1018_Thr1024delinsAlaGlyArgTyr;Phe1027del;Glu1029del;Lys1031_Ser1033del;His1035_Phe1043delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3156,
          "referenceAllele": "GTCCTATG",
          "start": 3148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532799.1:c.2918_2925del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531101.1:p.Gly973ValfsTer18",
        "hgvsWellDefined": "XP_011531101.1:p.[Gly973_Pro978delinsValSerProSerAsnSer;Ile980_Thr986delinsAlaGlyArgTyr;Phe989del;Glu991del;Lys993_Ser995del;His997_Phe1005delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099825"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3037,
          "referenceAllele": "GTCCTATG",
          "start": 3029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532800.1:c.2918_2925del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531102.1:p.Gly973ValfsTer18",
        "hgvsWellDefined": "XP_011531102.1:p.[Gly973_Pro978delinsValSerProSerAsnSer;Ile980_Thr986delinsAlaGlyArgTyr;Phe989del;Glu991del;Lys993_Ser995del;His997_Phe1005delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099826"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3311,
          "referenceAllele": "GTCCTATG",
          "start": 3303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452819.1:c.3215_3222del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308587.1:p.Gly1072ValfsTer18",
        "hgvsWellDefined": "XP_024308587.1:p.[Gly1072_Pro1077delinsValSerProSerAsnSer;Ile1079_Thr1085delinsAlaGlyArgTyr;Phe1088del;Glu1090del;Lys1092_Ser1094del;His1096_Phe1104delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586209"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3081,
          "referenceAllele": "GTCCTATG",
          "start": 3073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452820.1:c.3032_3039del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308588.1:p.Gly1011ValfsTer18",
        "hgvsWellDefined": "XP_024308588.1:p.[Gly1011_Pro1016delinsValSerProSerAsnSer;Ile1018_Thr1024delinsAlaGlyArgTyr;Phe1027del;Glu1029del;Lys1031_Ser1033del;His1035_Phe1043delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3156,
          "referenceAllele": "GTCCTATG",
          "start": 3148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452821.1:c.2918_2925del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308589.1:p.Gly973ValfsTer18",
        "hgvsWellDefined": "XP_024308589.1:p.[Gly973_Pro978delinsValSerProSerAsnSer;Ile980_Thr986delinsAlaGlyArgTyr;Phe989del;Glu991del;Lys993_Ser995del;His997_Phe1005delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586211"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3108,
          "referenceAllele": "GTCCTATG",
          "start": 3100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452822.1:c.2309_2316del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308590.1:p.Gly770ValfsTer18",
        "hgvsWellDefined": "XP_024308590.1:p.[Gly770_Pro775delinsValSerProSerAsnSer;Ile777_Thr783delinsAlaGlyArgTyr;Phe786del;Glu788del;Lys790_Ser792del;His794_Phe802delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3311,
          "referenceAllele": "GTCCTATG",
          "start": 3303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.3:c.3215_3222del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Gly1072ValfsTer18",
        "hgvsWellDefined": "NP_000170.1:p.[Gly1072_Pro1077delinsValSerProSerAsnSer;Ile1079_Thr1085delinsAlaGlyArgTyr;Phe1088del;Glu1090del;Lys1092_Ser1094del;His1096_Phe1104delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.3215_3222del"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.3215_3222del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Gly1072ValfsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Gly1072ValfsTer18"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2921,
          "referenceAllele": "GTCCTATG",
          "start": 2913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.2:c.2825_2832del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Gly942ValfsTer18",
        "hgvsWellDefined": "NP_001268421.1:p.[Gly942_Pro947delinsValSerProSerAsnSer;Ile949_Thr955delinsAlaGlyArgTyr;Phe958del;Glu960del;Lys962_Ser964del;His966_Phe974delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715702"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3141,
          "referenceAllele": "GTCCTATG",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.2:c.2309_2316del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Gly770ValfsTer18",
        "hgvsWellDefined": "NP_001268422.1:p.[Gly770_Pro775delinsValSerProSerAsnSer;Ile777_Thr783delinsAlaGlyArgTyr;Phe786del;Glu788del;Lys790_Ser792del;His794_Phe802delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715703"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3109,
          "referenceAllele": "GTCCTATG",
          "start": 3101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.2:c.2309_2316del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Gly770ValfsTer18",
        "hgvsWellDefined": "NP_001268423.1:p.[Gly770_Pro775delinsValSerProSerAsnSer;Ile777_Thr783delinsAlaGlyArgTyr;Phe786del;Glu788del;Lys790_Ser792del;His794_Phe802delinsAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715704"
    }
  ],
  "type": "nucleotide"
}