{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA015491",
  "communityStandardTitle": [
    "NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5862585",
        "active": true,
        "id": "COSM5862585"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94993[alleleid]",
        "alleleId": 94993,
        "preferredName": "NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89519",
        "RCV": [
          "RCV000074987",
          "RCV000144625",
          "RCV002326786",
          "RCV003450987",
          "RCV003311675",
          "RCV003460698"
        ],
        "variationId": 89519
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48018231G>A?assembly=hg19",
        "id": "chr2:g.48018231G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47791092G>A?assembly=hg38",
        "id": "chr2:g.47791092G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/63750342",
        "rs": 63750342
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-47791092-G-A?dataset=gnomad_r4",
        "id": "2-47791092-G-A",
        "variant": "2:47791092 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 47791092,
          "referenceAllele": "G",
          "start": 47791091
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47791092G>A",
        "CM000664.2:g.47791092G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 48018231,
          "referenceAllele": "G",
          "start": 48018230
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48018231G>A",
        "CM000664.1:g.48018231G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 47871735,
          "referenceAllele": "G",
          "start": 47871734
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47871735G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12946,
          "referenceAllele": "G",
          "start": 12945
        }
      ],
      "hgvs": [
        "NG_007111.1:g.12946G>A",
        "LRG_219:g.12946G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "G",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000411819.2:c.129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406248.2:p.Trp43Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 356,
          "referenceAllele": "G",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000420813.6:c.129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390382.2:p.Trp43Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000455383.6:c.129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397484.2:p.Trp43Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "G",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.2:c.426G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.2:p.Trp142Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914477"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "G",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000699999.1:n.510G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "referenceAllele": "G",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700000.1:c.426G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514749.1:p.Trp142Ter",
        "hgvsWellDefined": "ENSP00000514749.1:p.Trp142_Leu838delinsValSerLysArgLeuLeuLysProTyrThrGlySerLysSerLysGluAlaGlnLysGlyGlyHisPheTyrSerAlaLysProGluIleLeuArgAlaMetGlnArgAlaAspGluAlaLeuAsnLysAspLysIleLysArgLeuGluLeuAlaValCysAspGluProSerGluProGluGluGluGluGluMetGluValGlyThrThrTyrValThrAspLysSerGluGluAspAsnGluIleGluSerGluGluGluValGlnProLysThrGlnGlySerArgArgSerSerArgGlnIleLysLysArgArgValIleSerAspSerGluSerAspIleGlyGlySerAspValGluPheLysProAspThrLysGluGluGlySerSerAspGluIleSerSerGlyValGlyAspSerGluSerGluGlyLeuAsnSerProValLysValAlaArgLysArgLysArgMetValThrGlyAsnGlySerLeuLysArgLysSerSerArgLysGluThrProSerAlaThrLysGlnAlaThrSerIleSerSerGluThrLysAsnThrLeuArgAlaPheSerAlaProGlnAsnSerGluSerGlnAlaHisValSerGlyGlyGlyAspAspSerSerArgProThrValTrpTyrHisGluThrLeuGluTrpLeuLysGluGluLysArgArgAspGluHisArgArgArgProAspHisProAspPheAspAlaSerThrLeuTyrValProGluAspPheLeuAsnSerCysThrProGlyMetArgLysTrpTrpGlnIleLysSerGlnAsnPheAspLeuValIleCysTyrLysValGlyLysPheTyrGluLeuTyrHisMetAspAlaLeuIleGlyValSerGluLeuGlyLeuValPheMetLysGlyAsnTrpAlaHisSerGlyPheProGluIleAlaPheGlyArgTyrSerAspSerLeuValGlnLysGlyTyrLysValAlaArgValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrAsnValLeuLeuCysLeuAlaAsnTyrSerArgGlyGlyAspGlyProMetCysArgProValIleLeuLeuProGluAspThrProProPheLeuGluLeuLysGlySerArgHisProCysIleThrLysThrPhePheGlyAspAspPheIleProAsnAspIleLeuIleGlyCysGluGluGluGluGlnGluAsnGlyLysAlaTyrCysValLeuValThrGlyProAsnMetGlyGlyLysSerThrLeuMetArgGlnAlaGlyLeuLeuAlaValMetAlaGlnMetGlyCysTyrValProAlaGluValCysArgLeuThrProIleAspArgValPheThrArgLeuGlyAlaSerAspArgIleMetSerGlyGluSerThrPhePheValGluLeuSerGluThrAlaSerIleLeuMetHisAlaThrAlaHisSerLeuValLeuValAspGluLeuGlyArgGlyThrAlaThrPheAspGlyThrAlaIleAlaAsnAlaValValLysGluLeuAlaGluThrIleLysCysArgThrLeuPheSerThrHisTyrHisSerLeuValGluAspTyrSerGlnAsnValAlaValArgLeuGlyHisMetAlaCysMetValGluAsnGluCysGluAspProSerGlnGluThrIleThrPheLeuTyrLysPheIleLysGlyAlaCysProLysSerTyrGlyPheAsnAlaAlaArgLeuAlaAsnLeuProGluGluValIleGlnLysGlyHisArgLysAlaArgGluPheGluLysMetAsnGlnSerLeuArgLeuPheArgGluValCysLeuAlaSerGluArgSerThrValAspAlaGluAlaValHisLysLeuLeuThrLeuIleLysGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700001.1:n.498G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910872"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700002.1:c.426G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514750.1:p.Trp142Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "G",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700003.1:c.426G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514751.1:p.Trp142Ter",
        "hgvsWellDefined": "ENSP00000514751.1:p.Trp142_Gln229delinsValSerLysArgLeuLeuLysProTyrThrGlySerLysSerLysGluAlaGlnLysGlyGlyHisPheTyrSerAlaLysProGluIleLeuArgAlaMetGlnArgAlaAspGluAlaLeuAsnLysAspLysIleLysArgLeuGluLeuAlaValCysAspGluProSerGluProGluGluGluGluGluMetGluMetPheTyrCysAlaTrpLeuThrIleValGluGlyValMetValLeuCysValAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.11:c.426G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.5:p.Trp142Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.426G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.426G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Trp142Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Trp142Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 288,
          "endIntronDirection": "-",
          "endIntronOffset": 7518,
          "referenceAllele": "G",
          "start": 288,
          "startIntronDirection": "-",
          "startIntronOffset": 7519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.6:c.238-7519G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:n.238-7519G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759617"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000652107.1:c.129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498629.1:p.Trp43Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 247,
          "referenceAllele": "G",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673637.1:c.129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501310.1:p.Trp43Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "endIntronDirection": "-",
          "endIntronOffset": 7518,
          "referenceAllele": "G",
          "start": 349,
          "startIntronDirection": "-",
          "startIntronOffset": 7519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673922.1:n.350-7519G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.9:c.426G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.4:p.Trp142Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "endIntronDirection": "-",
          "endIntronOffset": 1651,
          "referenceAllele": "C",
          "start": 180,
          "startIntronDirection": "-",
          "startIntronOffset": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000405808.5:c.170-1652C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385127.1:n.170-1652C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "G",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000411819.1:c.129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406248.1:p.Trp43Ter",
        "hgvsWellDefined": "ENSP00000406248.1:p.Trp43_Val151del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000420813.5:c.129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390382.1:p.Trp43Ter",
        "hgvsWellDefined": "ENSP00000390382.1:p.Trp43_Ser101del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "endIntronDirection": "-",
          "endIntronOffset": 1651,
          "referenceAllele": "C",
          "start": 447,
          "startIntronDirection": "-",
          "startIntronOffset": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000434234.5:c.*125-1652C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402692.1:n.*125-1652C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000445503.5:c.426G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405294.1:p.Trp142Ter",
        "hgvsWellDefined": "ENSP00000405294.1:p.Trp142_Arg160delinsValSerLysArgLeuLeuLysProTyrThrGlyArgHisAsnLeuArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000455383.5:c.129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397484.1:p.Trp43Ter",
        "hgvsWellDefined": "ENSP00000397484.1:p.Trp43_Val116del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "endIntronDirection": "-",
          "endIntronOffset": 4801,
          "referenceAllele": "G",
          "start": 366,
          "startIntronDirection": "-",
          "startIntronOffset": 4802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000456246.1:c.261-4802G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410570.1:n.261-4802G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000538136.1:c.-477G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438580.1:n.-477G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "endIntronDirection": "-",
          "endIntronOffset": 7518,
          "referenceAllele": "G",
          "start": 389,
          "startIntronDirection": "-",
          "startIntronOffset": 7519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.5:c.238-7519G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:n.238-7519G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000606499.1:c.129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475605.1:p.Trp43Ter",
        "hgvsWellDefined": "ENSP00000475605.1:p.Trp43_Pro51del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000614496.4:c.-311G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477844.1:n.-311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "referenceAllele": "G",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000616033.4:c.423G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480261.1:p.Trp141Ter",
        "hgvsWellDefined": "ENSP00000480261.1:p.Trp141_Leu1067delinsValSerLysArgLeuLeuLysProTyrThrGlySerLysSerLysGluAlaGlnLysGlyGlyHisPheTyrSerAlaLysProGluIleLeuArgAlaMetGlnArgAlaAspGluAlaLeuAsnLysAspLysIleLysArgLeuGluLeuAlaValCysAspGluProSerGluProGluGluGluGluGluMetGluValGlyThrThrTyrValThrAspLysSerGluGluAspAsnGluIleGluSerGluGluGluValGlnProLysThrGlnGlySerArgArgSerSerArgGlnIleLysLysArgArgValIleSerAspSerGluSerAspIleGlyGlySerAspValGluPheLysProAspThrLysGluGluGlySerSerAspGluIleSerSerGlyValGlyAspSerGluSerGluGlyLeuAsnSerProValLysValAlaArgLysArgLysArgMetValThrGlyAsnGlySerLeuLysArgLysSerSerArgLysGluThrProSerAlaThrLysGlnAlaThrSerIleSerSerGluThrLysAsnThrLeuArgAlaPheSerAlaProGlnAsnSerGluSerGlnAlaHisValSerGlyGlyGlyAspAspSerSerArgProThrValTrpTyrHisGluThrLeuGluTrpLeuLysGluGluLysArgArgAspGluHisArgArgArgProAspHisProAspPheAspAlaSerThrLeuTyrValProGluAspPheLeuAsnSerCysThrProGlyMetArgLysTrpTrpGlnIleLysSerGlnAsnPheAspLeuValIleCysTyrLysValGlyLysPheTyrGluLeuTyrHisMetAspAlaLeuIleGlyValSerGluLeuGlyLeuValPheMetLysGlyAsnTrpAlaHisSerGlyPheProGluIleAlaPheGlyArgTyrSerAspSerLeuValGlnLysGlyTyrLysValAlaArgValGluGlnThrGluThrProGluMetMetGluAlaArgCysArgLysMetAlaHisIleSerLysTyrAspArgValValArgArgGluIleCysArgIleIleThrLysGlyThrGlnThrTyrSerValLeuGluGlyAspProSerGluAsnTyrSerLysTyrLeuLeuSerLeuLysGluLysGluGluAspSerSerGlyHisThrArgAlaTyrGlyValCysPheValAspThrSerLeuGlyLysPhePheIleGlyGlnPheSerAspAspArgHisCysSerArgPheArgThrLeuValAlaHisTyrProProValGlnValLeuPheGluLysGlyAsnLeuSerLysGluThrLysThrIleLeuLysSerSerLeuSerCysSerLeuGlnGluGlyLeuIleProGlySerGlnPheTrpAspAlaSerLysThrLeuArgThrLeuLeuGluGluGluTyrPheArgGluLysLeuSerAspGlyIleGlyValMetLeuProGlnValLeuLysGlyMetThrSerGluSerAspSerIleGlyLeuThrProGlyGluLysSerGluLeuAlaLeuSerAlaLeuGlyGlyCysValPheTyrLeuLysLysCysLeuIleAspGlnGluLeuLeuSerMetAlaAsnPheGluGluTyrIleProLeuAspSerAspThrValSerThrThrArgSerGlyAlaIlePheThrLysAlaTyrGlnArgMetValLeuAspAlaValThrLeuAsnAsnLeuGluIlePheLeuAsnGlyThrAsnGlySerThrGluGlyThrLeuLeuGluArgValAspThrCysHisThrProPheGlyLysArgLeuLeuLysGlnTrpLeuCysAlaProLeuCysAsnHisTyrAlaIleAsnAspArgLeuAspAlaIleGluAspLeuMetValValProAspLysIleSerGluValValGluLeuLeuLysLysLeuProAspLeuGluArgLeuLeuSerLysIleHisAsnValGlySerProLeuLysSerGlnAsnHisProAspSerArgAlaIleMetTyrGluGluThrThrTyrSerLysLysLysIleIleAspPheLeuSerAlaLeuGluGlyPheLysValMetCysLysIleIleGlyIleMetGluGluValAlaAspGlyPheLysSerLysIleLeuLysGlnValIleSerLeuGlnThrLysAsnProGluGlyArgPheProAspLeuThrValGluLeuAsnArgTrpAspThrAlaPheAspHisGluLysAlaArgLysThrGlyLeuIleThrProLysAlaGlyPheAspSerAspTyrAspGlnAlaLeuAlaAspIleArgGluAsnGluGlnSerLeuLeuGluTyrLeuGluLysGlnArgAsnArgIleGlyCysArgThrIleValTyrTrpGlyIleGlyArgAsnArgTyrGlnLeuGluIleProGluAsnPheThrThrArgAsnLeuProGluGluTyrGluLeuLysSerThrLysLysGlyCysLysArgTyrTrpThrLysThrIleGluLysLysLeuAlaAsnLeuIleAsnAlaGluGluArgArgAspValSerLeuLysAspCysMetArgArgLeuPheTyrAsnPheAspLysAsnTyrLysAspTrpGlnSerAlaValGluCysIleAlaValLeuGlyLysThrLeuAsnLysLeuValLeuArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000622629.4:c.-2671G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482078.1:n.-2671G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.2:c.426G>A",
        "LRG_219t1:c.426G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Trp142Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "endIntronDirection": "-",
          "endIntronOffset": 7518,
          "referenceAllele": "G",
          "start": 389,
          "startIntronDirection": "-",
          "startIntronOffset": 7519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.1:c.238-7519G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:n.238-7519G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021654"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 578,
          "referenceAllele": "G",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.1:c.-311G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:n.-311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.1:c.-477G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:n.-477G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021656"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "G",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_005264271.1:c.129G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264328.1:p.Trp43Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 285,
          "referenceAllele": "G",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532798.1:c.243G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531100.1:p.Trp81Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532799.1:c.129G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531101.1:p.Trp43Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099825"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532800.1:c.129G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531102.1:p.Trp43Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452819.1:c.426G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308587.1:p.Trp142Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 285,
          "referenceAllele": "G",
          "start": 284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452820.1:c.243G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308588.1:p.Trp81Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452821.1:c.129G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308589.1:p.Trp43Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452822.1:c.-311G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308590.1:n.-311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.3:c.426G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Trp142Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.426G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.426G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Trp142Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Trp142Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 326,
          "endIntronDirection": "-",
          "endIntronOffset": 7518,
          "referenceAllele": "G",
          "start": 326,
          "startIntronDirection": "-",
          "startIntronOffset": 7519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.2:c.238-7519G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:n.238-7519G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.2:c.-311G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:n.-311G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715703"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.2:c.-477G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:n.-477G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715704"
    }
  ],
  "type": "nucleotide"
}