{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645532885",
  "communityStandardTitle": [
    "NM_005896.4(IDH1):c.395_396delinsAC (p.Arg132His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=86993",
        "active": true,
        "id": "COSM86993"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2124862637",
        "rs": 2124862637
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "GT",
          "end": 208248388,
          "referenceAllele": "AC",
          "start": 208248386
        }
      ],
      "hgvs": [
        "NC_000002.12:g.208248387_208248388delinsGT",
        "CM000664.2:g.208248387_208248388delinsGT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "GT",
          "end": 209113112,
          "referenceAllele": "AC",
          "start": 209113110
        }
      ],
      "hgvs": [
        "NC_000002.11:g.209113111_209113112delinsGT",
        "CM000664.1:g.209113111_209113112delinsGT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "GT",
          "end": 208821357,
          "referenceAllele": "AC",
          "start": 208821355
        }
      ],
      "hgvs": [
        "NC_000002.10:g.208821356_208821357delinsGT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "AC",
          "end": 22688,
          "referenceAllele": "GT",
          "start": 22686
        }
      ],
      "hgvs": [
        "NG_023319.2:g.22687_22688delinsAC",
        "LRG_610:g.22687_22688delinsAC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003792"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "AC",
          "end": 619,
          "referenceAllele": "GT",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "ENST00000345146.7:c.395_396delinsAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260985.2:p.Arg132His",
        "hgvsWellDefined": "ENSP00000260985.2:p.Arg132His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748279",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345146.7:c.395_396delinsAC"
          },
          "RefSeq": {
            "hgvs": "NM_005896.4:c.395_396delinsAC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260985.2:p.Arg132His"
          },
          "RefSeq": {
            "hgvs": "NP_005887.2:p.Arg132His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "AC",
          "end": 681,
          "referenceAllele": "GT",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "ENST00000345146.6:c.395_396delinsAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260985.2:p.Arg132His",
        "hgvsWellDefined": "ENSP00000260985.2:p.Arg132His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262143"
    },
    {
      "coordinates": [
        {
          "allele": "AC",
          "end": 866,
          "referenceAllele": "GT",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "ENST00000415282.5:c.395_396delinsAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391075.1:p.Arg132His",
        "hgvsWellDefined": "ENSP00000391075.1:p.Arg132His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283919"
    },
    {
      "coordinates": [
        {
          "allele": "AC",
          "end": 778,
          "referenceAllele": "GT",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "ENST00000415913.5:c.395_396delinsAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390265.1:p.Arg132His",
        "hgvsWellDefined": "ENSP00000390265.1:p.Arg132His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284214"
    },
    {
      "coordinates": [
        {
          "allele": "AC",
          "end": 602,
          "referenceAllele": "GT",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "ENST00000446179.5:c.395_396delinsAC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410513.1:p.Arg132His",
        "hgvsWellDefined": "ENSP00000410513.1:p.Arg132His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298622"
    },
    {
      "coordinates": [
        {
          "allele": "AC",
          "end": 609,
          "referenceAllele": "GT",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "ENST00000462386.5:n.608_609delinsAC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170878",
      "coordinates": [
        {
          "allele": "AC",
          "end": 602,
          "referenceAllele": "GT",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "NM_001282386.1:c.395_396delinsAC",
        "LRG_610t3:c.395_396delinsAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269315.1:p.Arg132His",
        "hgvsWellDefined": "NP_001269315.1:p.Arg132His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170879",
      "coordinates": [
        {
          "allele": "AC",
          "end": 759,
          "referenceAllele": "GT",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "NM_001282387.1:c.395_396delinsAC",
        "LRG_610t2:c.395_396delinsAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269316.1:p.Arg132His",
        "hgvsWellDefined": "NP_001269316.1:p.Arg132His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170880",
      "coordinates": [
        {
          "allele": "AC",
          "end": 691,
          "referenceAllele": "GT",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "NM_005896.3:c.395_396delinsAC",
        "LRG_610t1:c.395_396delinsAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_005887.2:p.Arg132His",
        "hgvsWellDefined": "NP_005887.2:p.Arg132His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170880",
      "coordinates": [
        {
          "allele": "AC",
          "end": 619,
          "referenceAllele": "GT",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005382",
      "geneNCBI_id": 3417,
      "geneSymbol": "IDH1",
      "hgvs": [
        "NM_005896.4:c.395_396delinsAC"
      ],
      "proteinEffect": {
        "hgvs": "NP_005887.2:p.Arg132His",
        "hgvsWellDefined": "NP_005887.2:p.Arg132His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345146.7:c.395_396delinsAC"
          },
          "RefSeq": {
            "hgvs": "NM_005896.4:c.395_396delinsAC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260985.2:p.Arg132His"
          },
          "RefSeq": {
            "hgvs": "NP_005887.2:p.Arg132His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}