{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA348005",
  "communityStandardTitle": [
    "NM_000179.3(MSH6):c.2137del (p.Asp713IlefsTer23)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=221280[alleleid]",
        "alleleId": 221280,
        "preferredName": "NM_000179.3(MSH6):c.2137del (p.Asp713fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219795",
        "RCV": [
          "RCV000203704",
          "RCV000708611",
          "RCV001382365"
        ],
        "variationId": 219795
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48027258del?assembly=hg19",
        "id": "chr2:g.48027258del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47800119del?assembly=hg38",
        "id": "chr2:g.47800119del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/864622257",
        "rs": 864622257
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 47800120,
          "referenceAllele": "G",
          "start": 47800119
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47800120del",
        "CM000664.2:g.47800120del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 48027259,
          "referenceAllele": "G",
          "start": 48027258
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48027259del",
        "CM000664.1:g.48027259del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 47880763,
          "referenceAllele": "G",
          "start": 47880762
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47880763del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 21974,
          "referenceAllele": "G",
          "start": 21973
        }
      ],
      "hgvs": [
        "NG_007111.1:g.21974del",
        "LRG_219:g.21974del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1935,
          "referenceAllele": "G",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000411819.2:c.1840del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406248.2:p.Asp614IlefsTer23",
        "hgvsWellDefined": "ENSP00000406248.2:p.[Asp614_Asp616delinsIleLeu;Val618Gln;Thr620_Gly624del;Ile626_Tyr631delinsLeu;Arg633_Met634delinsAspLeu;Asp637_Asn642delinsSerSerProLysProIle;Asn643_Leu644insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2067,
          "referenceAllele": "G",
          "start": 2066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000420813.6:c.1840del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390382.2:p.Asp614IlefsTer23",
        "hgvsWellDefined": "ENSP00000390382.2:p.[Asp614_Asp616delinsIleLeu;Val618Gln;Thr620_Gly624del;Ile626_Tyr631delinsLeu;Arg633_Met634delinsAspLeu;Asp637_Asn642delinsSerSerProLysProIle;Asn643_Leu644insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2071,
          "referenceAllele": "G",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000455383.6:c.1840del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397484.2:p.Asp614IlefsTer23",
        "hgvsWellDefined": "ENSP00000397484.2:p.[Asp614_Asp616delinsIleLeu;Val618Gln;Thr620_Gly624del;Ile626_Tyr631delinsLeu;Arg633_Met634delinsAspLeu;Asp637_Asn642delinsSerSerProLysProIle;Asn643_Leu644insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914094"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2221,
          "referenceAllele": "G",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.2:c.2137del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.2:p.Asp713IlefsTer23",
        "hgvsWellDefined": "ENSP00000514752.2:p.[Asp713_Asp715delinsIleLeu;Val717Gln;Thr719_Gly723del;Ile725_Tyr730delinsLeu;Arg732_Met733delinsAspLeu;Asp736_Asn741delinsSerSerProLysProIle;Asn742_Leu743insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914477"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2221,
          "referenceAllele": "G",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000699999.1:n.2221del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910870"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1689,
          "endIntronDirection": "+",
          "endIntronOffset": 531,
          "referenceAllele": "G",
          "start": 1689,
          "startIntronDirection": "+",
          "startIntronOffset": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700000.1:c.1606+531del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514749.1:n.1606+531del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910871"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2215,
          "referenceAllele": "G",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700002.1:c.2143del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514750.1:p.Asp715IlefsTer23",
        "hgvsWellDefined": "ENSP00000514750.1:p.[Asp715_Asp717delinsIleLeu;Val719Gln;Thr721_Gly725del;Ile727_Tyr732delinsLeu;Arg734_Met735delinsAspLeu;Asp738_Asn743delinsSerSerProLysProIle;Asn744_Leu745insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910873"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 627,
          "endIntronDirection": "-",
          "endIntronOffset": 3299,
          "referenceAllele": "G",
          "start": 627,
          "startIntronDirection": "-",
          "startIntronOffset": 3300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700003.1:c.628-3300del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514751.1:n.628-3300del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910874"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1294,
          "referenceAllele": "G",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.1:c.1294del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.1:p.Asp432IlefsTer23",
        "hgvsWellDefined": "ENSP00000514752.1:p.[Asp432_Asp434delinsIleLeu;Val436Gln;Thr438_Gly442del;Ile444_Tyr449delinsLeu;Arg451_Met452delinsAspLeu;Asp455_Asn460delinsSerSerProLysProIle;Asn461_Leu462insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910875"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2226,
          "referenceAllele": "G",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.11:c.2137del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.5:p.Asp713IlefsTer23",
        "hgvsWellDefined": "ENSP00000234420.5:p.[Asp713_Asp715delinsIleLeu;Val717Gln;Thr719_Gly723del;Ile725_Tyr730delinsLeu;Arg732_Met733delinsAspLeu;Asp736_Asn741delinsSerSerProLysProIle;Asn742_Leu743insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.2137del"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.2137del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Asp713IlefsTer23"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Asp713IlefsTer23"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1798,
          "referenceAllele": "G",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.6:c.1747del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Asp583IlefsTer23",
        "hgvsWellDefined": "ENSP00000446475.1:p.[Asp583_Asp585delinsIleLeu;Val587Gln;Thr589_Gly593del;Ile595_Tyr600delinsLeu;Arg602_Met603delinsAspLeu;Asp606_Asn611delinsSerSerProLysProIle;Asn612_Leu613insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759617"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2520,
          "referenceAllele": "G",
          "start": 2519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000652107.1:c.1840del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498629.1:p.Asp614IlefsTer23",
        "hgvsWellDefined": "ENSP00000498629.1:p.[Asp614_Asp616delinsIleLeu;Val618Gln;Thr620_Gly624del;Ile626_Tyr631delinsLeu;Arg633_Met634delinsAspLeu;Asp637_Asn642delinsSerSerProLysProIle;Asn643_Leu644insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772029"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1958,
          "referenceAllele": "G",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673637.1:c.1840del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501310.1:p.Asp614IlefsTer23",
        "hgvsWellDefined": "ENSP00000501310.1:p.[Asp614_Asp616delinsIleLeu;Val618Gln;Thr620_Gly624del;Ile626_Tyr631delinsLeu;Arg633_Met634delinsAspLeu;Asp637_Asn642delinsSerSerProLysProIle;Asn643_Leu644insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773747"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2289,
          "referenceAllele": "G",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.9:c.2137del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.4:p.Asp713IlefsTer23",
        "hgvsWellDefined": "ENSP00000234420.4:p.[Asp713_Asp715delinsIleLeu;Val717Gln;Thr719_Gly723del;Ile725_Tyr730delinsLeu;Arg732_Met733delinsAspLeu;Asp736_Asn741delinsSerSerProLysProIle;Asn742_Leu743insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247309"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 8076,
          "referenceAllele": "C",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 8075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000405808.5:c.169+8076del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385127.1:n.169+8076del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247134"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 7875,
          "referenceAllele": "C",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 7874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000434234.5:c.*124+7875del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402692.1:n.*124+7875del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292930"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2119,
          "referenceAllele": "G",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000445503.5:c.*1484del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405294.1:n.*1484del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298311"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2024,
          "referenceAllele": "G",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000538136.1:c.1231del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438580.1:p.Asp411IlefsTer23",
        "hgvsWellDefined": "ENSP00000438580.1:p.[Asp411_Asp413delinsIleLeu;Val415Gln;Thr417_Gly421del;Ile423_Tyr428delinsLeu;Arg430_Met431delinsAspLeu;Asp434_Asn439delinsSerSerProLysProIle;Asn440_Leu441insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247195"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1899,
          "referenceAllele": "G",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.5:c.1747del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Asp583IlefsTer23",
        "hgvsWellDefined": "ENSP00000446475.1:p.[Asp583_Asp585delinsIleLeu;Val587Gln;Thr589_Gly593del;Ile595_Tyr600delinsLeu;Arg602_Met603delinsAspLeu;Asp606_Asn611delinsSerSerProLysProIle;Asn612_Leu613insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247186"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2119,
          "referenceAllele": "G",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000614496.4:c.1231del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477844.1:p.Asp411IlefsTer23",
        "hgvsWellDefined": "ENSP00000477844.1:p.[Asp411_Asp413delinsIleLeu;Val415Gln;Thr417_Gly421del;Ile423_Tyr428delinsLeu;Arg430_Met431delinsAspLeu;Asp434_Asn439delinsSerSerProLysProIle;Asn440_Leu441insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402225"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2217,
          "referenceAllele": "G",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000616033.4:c.2134del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480261.1:p.Asp712IlefsTer23",
        "hgvsWellDefined": "ENSP00000480261.1:p.[Asp712_Asp714delinsIleLeu;Val716Gln;Thr718_Gly722del;Ile724_Tyr729delinsLeu;Arg731_Met732delinsAspLeu;Asp735_Asn740delinsSerSerProLysProIle;Asn741_Leu742insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402884"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2289,
          "referenceAllele": "G",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000622629.4:c.-960del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482078.1:n.-960del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405814"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2289,
          "referenceAllele": "G",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.2:c.2137del",
        "LRG_219t1:c.2137del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Asp713IlefsTer23",
        "hgvsWellDefined": "NP_000170.1:p.[Asp713_Asp715delinsIleLeu;Val717Gln;Thr719_Gly723del;Ile725_Tyr730delinsLeu;Arg732_Met733delinsAspLeu;Asp736_Asn741delinsSerSerProLysProIle;Asn742_Leu743insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006241"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1899,
          "referenceAllele": "G",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.1:c.1747del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Asp583IlefsTer23",
        "hgvsWellDefined": "NP_001268421.1:p.[Asp583_Asp585delinsIleLeu;Val587Gln;Thr589_Gly593del;Ile595_Tyr600delinsLeu;Arg602_Met603delinsAspLeu;Asp606_Asn611delinsSerSerProLysProIle;Asn612_Leu613insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021654"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2119,
          "referenceAllele": "G",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.1:c.1231del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Asp411IlefsTer23",
        "hgvsWellDefined": "NP_001268422.1:p.[Asp411_Asp413delinsIleLeu;Val415Gln;Thr417_Gly421del;Ile423_Tyr428delinsLeu;Arg430_Met431delinsAspLeu;Asp434_Asn439delinsSerSerProLysProIle;Asn440_Leu441insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2024,
          "referenceAllele": "G",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.1:c.1231del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Asp411IlefsTer23",
        "hgvsWellDefined": "NP_001268423.1:p.[Asp411_Asp413delinsIleLeu;Val415Gln;Thr417_Gly421del;Ile423_Tyr428delinsLeu;Arg430_Met431delinsAspLeu;Asp434_Asn439delinsSerSerProLysProIle;Asn440_Leu441insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021656"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1935,
          "referenceAllele": "G",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_005264271.1:c.1840del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264328.1:p.Asp614IlefsTer23",
        "hgvsWellDefined": "XP_005264328.1:p.[Asp614_Asp616delinsIleLeu;Val618Gln;Thr620_Gly624del;Ile626_Tyr631delinsLeu;Arg633_Met634delinsAspLeu;Asp637_Asn642delinsSerSerProLysProIle;Asn643_Leu644insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064144"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1996,
          "referenceAllele": "G",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532798.1:c.1954del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531100.1:p.Asp652IlefsTer23",
        "hgvsWellDefined": "XP_011531100.1:p.[Asp652_Asp654delinsIleLeu;Val656Gln;Thr658_Gly662del;Ile664_Tyr669delinsLeu;Arg671_Met672delinsAspLeu;Asp675_Asn680delinsSerSerProLysProIle;Asn681_Leu682insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099824"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2071,
          "referenceAllele": "G",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532799.1:c.1840del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531101.1:p.Asp614IlefsTer23",
        "hgvsWellDefined": "XP_011531101.1:p.[Asp614_Asp616delinsIleLeu;Val618Gln;Thr620_Gly624del;Ile626_Tyr631delinsLeu;Arg633_Met634delinsAspLeu;Asp637_Asn642delinsSerSerProLysProIle;Asn643_Leu644insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099825"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1952,
          "referenceAllele": "G",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532800.1:c.1840del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531102.1:p.Asp614IlefsTer23",
        "hgvsWellDefined": "XP_011531102.1:p.[Asp614_Asp616delinsIleLeu;Val618Gln;Thr620_Gly624del;Ile626_Tyr631delinsLeu;Arg633_Met634delinsAspLeu;Asp637_Asn642delinsSerSerProLysProIle;Asn643_Leu644insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099826"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2226,
          "referenceAllele": "G",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452819.1:c.2137del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308587.1:p.Asp713IlefsTer23",
        "hgvsWellDefined": "XP_024308587.1:p.[Asp713_Asp715delinsIleLeu;Val717Gln;Thr719_Gly723del;Ile725_Tyr730delinsLeu;Arg732_Met733delinsAspLeu;Asp736_Asn741delinsSerSerProLysProIle;Asn742_Leu743insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586209"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1996,
          "referenceAllele": "G",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452820.1:c.1954del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308588.1:p.Asp652IlefsTer23",
        "hgvsWellDefined": "XP_024308588.1:p.[Asp652_Asp654delinsIleLeu;Val656Gln;Thr658_Gly662del;Ile664_Tyr669delinsLeu;Arg671_Met672delinsAspLeu;Asp675_Asn680delinsSerSerProLysProIle;Asn681_Leu682insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2071,
          "referenceAllele": "G",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452821.1:c.1840del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308589.1:p.Asp614IlefsTer23",
        "hgvsWellDefined": "XP_024308589.1:p.[Asp614_Asp616delinsIleLeu;Val618Gln;Thr620_Gly624del;Ile626_Tyr631delinsLeu;Arg633_Met634delinsAspLeu;Asp637_Asn642delinsSerSerProLysProIle;Asn643_Leu644insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586211"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2023,
          "referenceAllele": "G",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452822.1:c.1231del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308590.1:p.Asp411IlefsTer23",
        "hgvsWellDefined": "XP_024308590.1:p.[Asp411_Asp413delinsIleLeu;Val415Gln;Thr417_Gly421del;Ile423_Tyr428delinsLeu;Arg430_Met431delinsAspLeu;Asp434_Asn439delinsSerSerProLysProIle;Asn440_Leu441insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2226,
          "referenceAllele": "G",
          "start": 2225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.3:c.2137del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Asp713IlefsTer23",
        "hgvsWellDefined": "NP_000170.1:p.[Asp713_Asp715delinsIleLeu;Val717Gln;Thr719_Gly723del;Ile725_Tyr730delinsLeu;Arg732_Met733delinsAspLeu;Asp736_Asn741delinsSerSerProLysProIle;Asn742_Leu743insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.2137del"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.2137del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Asp713IlefsTer23"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Asp713IlefsTer23"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1836,
          "referenceAllele": "G",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.2:c.1747del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Asp583IlefsTer23",
        "hgvsWellDefined": "NP_001268421.1:p.[Asp583_Asp585delinsIleLeu;Val587Gln;Thr589_Gly593del;Ile595_Tyr600delinsLeu;Arg602_Met603delinsAspLeu;Asp606_Asn611delinsSerSerProLysProIle;Asn612_Leu613insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715702"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2056,
          "referenceAllele": "G",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.2:c.1231del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Asp411IlefsTer23",
        "hgvsWellDefined": "NP_001268422.1:p.[Asp411_Asp413delinsIleLeu;Val415Gln;Thr417_Gly421del;Ile423_Tyr428delinsLeu;Arg430_Met431delinsAspLeu;Asp434_Asn439delinsSerSerProLysProIle;Asn440_Leu441insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715703"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2024,
          "referenceAllele": "G",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.2:c.1231del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Asp411IlefsTer23",
        "hgvsWellDefined": "NP_001268423.1:p.[Asp411_Asp413delinsIleLeu;Val415Gln;Thr417_Gly421del;Ile423_Tyr428delinsLeu;Arg430_Met431delinsAspLeu;Asp434_Asn439delinsSerSerProLysProIle;Asn440_Leu441insGluTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715704"
    }
  ],
  "type": "nucleotide"
}