{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3062864702",
  "communityStandardTitle": [
    "NM_000179.3(MSH6):c.116_117delinsAA (p.Gly39Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4020177[alleleid]",
        "alleleId": 4020177,
        "preferredName": "NM_000179.3(MSH6):c.116_117delinsAA (p.Gly39Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3904305",
        "RCV": [
          "RCV005427704"
        ],
        "variationId": 3904305
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "AA",
          "end": 47783350,
          "referenceAllele": "GG",
          "start": 47783348
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47783349_47783350delinsAA",
        "CM000664.2:g.47783349_47783350delinsAA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "AA",
          "end": 48010489,
          "referenceAllele": "GG",
          "start": 48010487
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48010488_48010489delinsAA",
        "CM000664.1:g.48010488_48010489delinsAA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "AA",
          "end": 47863993,
          "referenceAllele": "GG",
          "start": 47863991
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47863992_47863993delinsAA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 5204,
          "referenceAllele": "GG",
          "start": 5202
        }
      ],
      "hgvs": [
        "NG_007111.1:g.5203_5204delinsAA",
        "LRG_219:g.5203_5204delinsAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 201,
          "referenceAllele": "GG",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.2:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.2:p.Gly39Glu",
        "hgvsWellDefined": "ENSP00000514752.2:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914477"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 201,
          "referenceAllele": "GG",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000699999.1:n.200_201delinsAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910870"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 200,
          "referenceAllele": "GG",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700000.1:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514749.1:p.Gly39Glu",
        "hgvsWellDefined": "ENSP00000514749.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910871"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 189,
          "referenceAllele": "GG",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700001.1:n.188_189delinsAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910872"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 189,
          "referenceAllele": "GG",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700002.1:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514750.1:p.Gly39Glu",
        "hgvsWellDefined": "ENSP00000514750.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910873"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 117,
          "referenceAllele": "GG",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700003.1:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514751.1:p.Gly39Glu",
        "hgvsWellDefined": "ENSP00000514751.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910874"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 206,
          "referenceAllele": "GG",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.11:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.5:p.Gly39Glu",
        "hgvsWellDefined": "ENSP00000234420.5:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.116_117delinsAA"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.116_117delinsAA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Gly39Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Gly39Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 168,
          "referenceAllele": "GG",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.6:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Gly39Glu",
        "hgvsWellDefined": "ENSP00000446475.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759617"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 7576,
          "referenceAllele": "GG",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 7578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000652107.1:c.-37-7578_-37-7577delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498629.1:n.-37-7578_-37-7577delinsAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772029"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 81,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "GG",
          "start": 81,
          "startIntronDirection": "+",
          "startIntronOffset": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673637.1:c.-38+118_-38+119delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501310.1:n.-38+118_-38+119delinsAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773747"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 206,
          "referenceAllele": "GG",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673922.1:n.205_206delinsAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773977"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 269,
          "referenceAllele": "GG",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.9:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.4:p.Gly39Glu",
        "hgvsWellDefined": "ENSP00000234420.4:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247309"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 269,
          "referenceAllele": "GG",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000445503.5:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405294.1:p.Gly39Glu",
        "hgvsWellDefined": "ENSP00000405294.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298311"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 223,
          "referenceAllele": "GG",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000456246.1:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410570.1:p.Gly39Glu",
        "hgvsWellDefined": "ENSP00000410570.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303398"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 181,
          "referenceAllele": "GG",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000493177.1:n.180_181delinsAA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330382"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 269,
          "referenceAllele": "GG",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.5:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:p.Gly39Glu",
        "hgvsWellDefined": "ENSP00000446475.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247186"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 643,
          "endIntronDirection": "-",
          "endIntronOffset": 7576,
          "referenceAllele": "GG",
          "start": 643,
          "startIntronDirection": "-",
          "startIntronOffset": 7578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000606499.1:c.-37-7578_-37-7577delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475605.1:n.-37-7578_-37-7577delinsAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247301"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 269,
          "referenceAllele": "GG",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000614496.4:c.-621_-620delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477844.1:n.-621_-620delinsAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402225"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 198,
          "referenceAllele": "GG",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000616033.4:c.114_115delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480261.1:p.Gly39Ser",
        "hgvsWellDefined": "ENSP00000480261.1:p.Gly39Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402884"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 269,
          "referenceAllele": "GG",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000622629.4:c.-2981_-2980delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482078.1:n.-2981_-2980delinsAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA131288",
      "coordinates": [
        {
          "allele": "AA",
          "end": 269,
          "referenceAllele": "GG",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.2:c.116_117delinsAA",
        "LRG_219t1:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Gly39Glu",
        "hgvsWellDefined": "NP_000170.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006241"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010981",
      "coordinates": [
        {
          "allele": "AA",
          "end": 269,
          "referenceAllele": "GG",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.1:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Gly39Glu",
        "hgvsWellDefined": "NP_001268421.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021654"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 269,
          "referenceAllele": "GG",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.1:c.-621_-620delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:n.-621_-620delinsAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021655"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 75,
          "endIntronDirection": "+",
          "endIntronOffset": 119,
          "referenceAllele": "GG",
          "start": 75,
          "startIntronDirection": "+",
          "startIntronOffset": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532800.1:c.-38+118_-38+119delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531102.1:n.-38+118_-38+119delinsAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099826"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 206,
          "referenceAllele": "GG",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452819.1:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308587.1:p.Gly39Glu",
        "hgvsWellDefined": "XP_024308587.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586209"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 173,
          "referenceAllele": "GG",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452822.1:c.-621_-620delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308590.1:n.-621_-620delinsAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA131288",
      "coordinates": [
        {
          "allele": "AA",
          "end": 206,
          "referenceAllele": "GG",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.3:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:p.Gly39Glu",
        "hgvsWellDefined": "NP_000170.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.116_117delinsAA"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.116_117delinsAA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:p.Gly39Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:p.Gly39Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010981",
      "coordinates": [
        {
          "allele": "AA",
          "end": 206,
          "referenceAllele": "GG",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.2:c.116_117delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:p.Gly39Glu",
        "hgvsWellDefined": "NP_001268421.1:p.Gly39Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715702"
    },
    {
      "coordinates": [
        {
          "allele": "AA",
          "end": 206,
          "referenceAllele": "GG",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.2:c.-621_-620delinsAA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:n.-621_-620delinsAA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715703"
    }
  ],
  "type": "nucleotide"
}