{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2825001131",
  "communityStandardTitle": [
    "NM_000179.3(MSH6):c.3572_3573dup (p.Val1192LeufsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3382403[alleleid]",
        "alleleId": 3382403,
        "preferredName": "NM_000179.3(MSH6):c.3572_3573dup (p.Val1192fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3230559",
        "RCV": [
          "RCV004520710"
        ],
        "variationId": 3230559
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517764",
        "rs": 1057517764
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "TT",
          "end": 47805634,
          "referenceAllele": "",
          "start": 47805634
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47805633_47805634dup",
        "CM000664.2:g.47805633_47805634dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "TT",
          "end": 48032773,
          "referenceAllele": "",
          "start": 48032773
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48032772_48032773dup",
        "CM000664.1:g.48032772_48032773dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "TT",
          "end": 47886277,
          "referenceAllele": "",
          "start": 47886277
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47886276_47886277dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 27488,
          "referenceAllele": "",
          "start": 27488
        }
      ],
      "hgvs": [
        "NG_007111.1:g.27487_27488dup",
        "LRG_219:g.27487_27488dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000487"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 105047,
          "referenceAllele": "",
          "start": 105047
        }
      ],
      "hgvs": [
        "NG_008397.1:g.105046_105047dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001078"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3371,
          "referenceAllele": "",
          "start": 3371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000411819.2:c.3275_3276dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406248.2:p.Val1093LeufsTer4",
        "hgvsWellDefined": "ENSP00000406248.2:p.[Val1093_Glu1094del;Ser1096_Ile1101del;Met1103_Thr1122delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914023"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3503,
          "referenceAllele": "",
          "start": 3503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000420813.6:c.3275_3276dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390382.2:p.Val1093LeufsTer4",
        "hgvsWellDefined": "ENSP00000390382.2:p.[Val1093_Glu1094del;Ser1096_Ile1101del;Met1103_Thr1122delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914038"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3507,
          "referenceAllele": "",
          "start": 3507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000455383.6:c.3275_3276dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397484.2:p.Val1093LeufsTer4",
        "hgvsWellDefined": "ENSP00000397484.2:p.[Val1093_Glu1094del;Ser1096_Ile1101del;Met1103_Thr1122delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914094"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3273,
          "referenceAllele": "",
          "start": 3273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.2:c.3188_3189dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.2:p.Val1064LeufsTer4",
        "hgvsWellDefined": "ENSP00000514752.2:p.[Val1064_Glu1065del;Ser1067_Ile1072del;Met1074_Thr1093delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914477"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 4247,
          "referenceAllele": "",
          "start": 4247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000699999.1:n.4246_4247dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910870"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2090,
          "referenceAllele": "",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700000.1:c.2006_2007dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514749.1:p.Val670LeufsTer4",
        "hgvsWellDefined": "ENSP00000514749.1:p.[Val670_Glu671del;Ser673_Ile678del;Met680_Thr699delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910871"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3651,
          "referenceAllele": "",
          "start": 3651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700002.1:c.3578_3579dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514750.1:p.Val1194LeufsTer4",
        "hgvsWellDefined": "ENSP00000514750.1:p.[Val1194_Glu1195del;Ser1197_Ile1202del;Met1204_Thr1223delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910873"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1028,
          "referenceAllele": "",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700003.1:c.1027_1028dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514751.1:n.1027_1028dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910874"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2346,
          "referenceAllele": "",
          "start": 2346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.1:c.2345_2346dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.1:p.Val783LeufsTer4",
        "hgvsWellDefined": "ENSP00000514752.1:p.[Val783_Glu784del;Ser786_Ile791del;Met793_Thr812delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910875"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2424,
          "referenceAllele": "",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700005.1:n.2423_2424dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910876"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 4235,
          "referenceAllele": "",
          "start": 4235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700006.1:n.4234_4235dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910877"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2168,
          "referenceAllele": "",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700007.1:n.2167_2168dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910878"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1742,
          "referenceAllele": "",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700008.1:n.1741_1742dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910879"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1741,
          "referenceAllele": "",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700009.1:n.1740_1741dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910880"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 982,
          "referenceAllele": "",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700010.1:n.981_982dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910881"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 2867,
          "referenceAllele": "",
          "start": 2867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700011.1:n.2866_2867dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910882"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3662,
          "referenceAllele": "",
          "start": 3662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.11:c.3572_3573dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.5:p.Val1192LeufsTer4",
        "hgvsWellDefined": "ENSP00000234420.5:p.[Val1192_Glu1193del;Ser1195_Ile1200del;Met1202_Thr1221delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.3572_3573dup"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.3572_3573dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Val1192LeufsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Val1192LeufsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3234,
          "referenceAllele": "",
          "start": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.6:c.3182_3183dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Val1062LeufsTer4",
        "hgvsWellDefined": "ENSP00000446475.1:p.[Val1062_Glu1063del;Ser1065_Ile1070del;Met1072_Thr1091delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759617"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3956,
          "referenceAllele": "",
          "start": 3956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000652107.1:c.3275_3276dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498629.1:p.Val1093LeufsTer4",
        "hgvsWellDefined": "ENSP00000498629.1:p.[Val1093_Glu1094del;Ser1096_Ile1101del;Met1103_Thr1122delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772029"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3394,
          "referenceAllele": "",
          "start": 3394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673637.1:c.3275_3276dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501310.1:p.Val1093LeufsTer4",
        "hgvsWellDefined": "ENSP00000501310.1:p.[Val1093_Glu1094del;Ser1096_Ile1101del;Met1103_Thr1122delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773747"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3725,
          "referenceAllele": "",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.9:c.3572_3573dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.4:p.Val1192LeufsTer4",
        "hgvsWellDefined": "ENSP00000234420.4:p.[Val1192_Glu1193del;Ser1195_Ile1200del;Met1202_Thr1221delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247309"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 2566,
          "referenceAllele": "",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000405808.5:c.169+2565_169+2566dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385127.1:n.169+2565_169+2566dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247134"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 2365,
          "referenceAllele": "",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000434234.5:c.*124+2364_*124+2365dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402692.1:n.*124+2364_*124+2365dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292930"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3555,
          "referenceAllele": "",
          "start": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000445503.5:c.*2919_*2920dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405294.1:n.*2919_*2920dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298311"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3460,
          "referenceAllele": "",
          "start": 3460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000538136.1:c.2666_2667dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438580.1:p.Val890LeufsTer4",
        "hgvsWellDefined": "ENSP00000438580.1:p.[Val890_Glu891del;Ser893_Ile898del;Met900_Thr919delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247195"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3335,
          "referenceAllele": "",
          "start": 3335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.5:c.3182_3183dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Val1062LeufsTer4",
        "hgvsWellDefined": "ENSP00000446475.1:p.[Val1062_Glu1063del;Ser1065_Ile1070del;Met1072_Thr1091delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247186"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3555,
          "referenceAllele": "",
          "start": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000614496.4:c.2666_2667dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477844.1:p.Val890LeufsTer4",
        "hgvsWellDefined": "ENSP00000477844.1:p.[Val890_Glu891del;Ser893_Ile898del;Met900_Thr919delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402225"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3725,
          "referenceAllele": "",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000622629.4:c.476_477dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482078.1:p.Val160LeufsTer4",
        "hgvsWellDefined": "ENSP00000482078.1:p.[Val160_Glu161del;Ser163_Ile168del;Met170_Thr189delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405814"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3725,
          "referenceAllele": "",
          "start": 3725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.2:c.3572_3573dup",
        "LRG_219t1:c.3572_3573dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Val1192LeufsTer4",
        "hgvsWellDefined": "NP_000170.1:p.[Val1192_Glu1193del;Ser1195_Ile1200del;Met1202_Thr1221delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006241"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3335,
          "referenceAllele": "",
          "start": 3335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.1:c.3182_3183dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Val1062LeufsTer4",
        "hgvsWellDefined": "NP_001268421.1:p.[Val1062_Glu1063del;Ser1065_Ile1070del;Met1072_Thr1091delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021654"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3555,
          "referenceAllele": "",
          "start": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.1:c.2666_2667dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Val890LeufsTer4",
        "hgvsWellDefined": "NP_001268422.1:p.[Val890_Glu891del;Ser893_Ile898del;Met900_Thr919delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021655"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3460,
          "referenceAllele": "",
          "start": 3460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.1:c.2666_2667dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Val890LeufsTer4",
        "hgvsWellDefined": "NP_001268423.1:p.[Val890_Glu891del;Ser893_Ile898del;Met900_Thr919delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021656"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3371,
          "referenceAllele": "",
          "start": 3371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_005264271.1:c.3275_3276dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264328.1:p.Val1093LeufsTer4",
        "hgvsWellDefined": "XP_005264328.1:p.[Val1093_Glu1094del;Ser1096_Ile1101del;Met1103_Thr1122delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064144"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3432,
          "referenceAllele": "",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532798.1:c.3389_3390dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531100.1:p.Val1131LeufsTer4",
        "hgvsWellDefined": "XP_011531100.1:p.[Val1131_Glu1132del;Ser1134_Ile1139del;Met1141_Thr1160delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099824"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3507,
          "referenceAllele": "",
          "start": 3507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532799.1:c.3275_3276dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531101.1:p.Val1093LeufsTer4",
        "hgvsWellDefined": "XP_011531101.1:p.[Val1093_Glu1094del;Ser1096_Ile1101del;Met1103_Thr1122delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099825"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3388,
          "referenceAllele": "",
          "start": 3388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532800.1:c.3275_3276dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531102.1:p.Val1093LeufsTer4",
        "hgvsWellDefined": "XP_011531102.1:p.[Val1093_Glu1094del;Ser1096_Ile1101del;Met1103_Thr1122delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099826"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3662,
          "referenceAllele": "",
          "start": 3662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452819.1:c.3572_3573dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308587.1:p.Val1192LeufsTer4",
        "hgvsWellDefined": "XP_024308587.1:p.[Val1192_Glu1193del;Ser1195_Ile1200del;Met1202_Thr1221delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586209"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3432,
          "referenceAllele": "",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452820.1:c.3389_3390dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308588.1:p.Val1131LeufsTer4",
        "hgvsWellDefined": "XP_024308588.1:p.[Val1131_Glu1132del;Ser1134_Ile1139del;Met1141_Thr1160delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586210"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3507,
          "referenceAllele": "",
          "start": 3507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452821.1:c.3275_3276dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308589.1:p.Val1093LeufsTer4",
        "hgvsWellDefined": "XP_024308589.1:p.[Val1093_Glu1094del;Ser1096_Ile1101del;Met1103_Thr1122delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586211"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3459,
          "referenceAllele": "",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452822.1:c.2666_2667dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308590.1:p.Val890LeufsTer4",
        "hgvsWellDefined": "XP_024308590.1:p.[Val890_Glu891del;Ser893_Ile898del;Met900_Thr919delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586212"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3662,
          "referenceAllele": "",
          "start": 3662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.3:c.3572_3573dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Val1192LeufsTer4",
        "hgvsWellDefined": "NP_000170.1:p.[Val1192_Glu1193del;Ser1195_Ile1200del;Met1202_Thr1221delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.3572_3573dup"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.3572_3573dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Val1192LeufsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Val1192LeufsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3272,
          "referenceAllele": "",
          "start": 3272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.2:c.3182_3183dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Val1062LeufsTer4",
        "hgvsWellDefined": "NP_001268421.1:p.[Val1062_Glu1063del;Ser1065_Ile1070del;Met1072_Thr1091delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715702"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3492,
          "referenceAllele": "",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.2:c.2666_2667dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:p.Val890LeufsTer4",
        "hgvsWellDefined": "NP_001268422.1:p.[Val890_Glu891del;Ser893_Ile898del;Met900_Thr919delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715703"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 3460,
          "referenceAllele": "",
          "start": 3460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.2:c.2666_2667dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:p.Val890LeufsTer4",
        "hgvsWellDefined": "NP_001268423.1:p.[Val890_Glu891del;Ser893_Ile898del;Met900_Thr919delinsAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715704"
    }
  ],
  "type": "nucleotide"
}