{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645531301",
  "communityStandardTitle": [
    "NM_001080476.3(GRXCR1):c.785_786delinsTT (p.Arg262Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6100461",
        "active": true,
        "id": "COSM6100461"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "TT",
          "end": 43030453,
          "referenceAllele": "GA",
          "start": 43030451
        }
      ],
      "hgvs": [
        "NC_000004.12:g.43030452_43030453delinsTT",
        "CM000666.2:g.43030452_43030453delinsTT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "TT",
          "end": 43032470,
          "referenceAllele": "GA",
          "start": 43032468
        }
      ],
      "hgvs": [
        "NC_000004.11:g.43032469_43032470delinsTT",
        "CM000666.1:g.43032469_43032470delinsTT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "TT",
          "end": 42727227,
          "referenceAllele": "GA",
          "start": 42727225
        }
      ],
      "hgvs": [
        "NC_000004.10:g.42727226_42727227delinsTT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 142188,
          "referenceAllele": "GA",
          "start": 142186
        }
      ],
      "hgvs": [
        "NG_027718.1:g.142187_142188delinsTT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003926"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 1340,
          "referenceAllele": "GA",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "ENST00000399770.3:c.785_786delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382670.2:p.Arg262Leu",
        "hgvsWellDefined": "ENSP00000382670.2:p.Arg262Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399770.3:c.785_786delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_001080476.3:c.785_786delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382670.2:p.Arg262Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001073945.1:p.Arg262Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 786,
          "referenceAllele": "GA",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "ENST00000399770.2:c.785_786delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382670.2:p.Arg262Leu",
        "hgvsWellDefined": "ENSP00000382670.2:p.Arg262Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658802431",
      "coordinates": [
        {
          "allele": "TT",
          "end": 787,
          "referenceAllele": "GA",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "NM_001080476.2:c.785_786delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073945.1:p.Arg262Leu",
        "hgvsWellDefined": "NP_001073945.1:p.Arg262Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010234"
    },
    {
      "coordinates": [
        {
          "allele": "TT",
          "end": 464,
          "referenceAllele": "GA",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "XM_011513691.1:c.422_423delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511993.1:p.Arg141Leu",
        "hgvsWellDefined": "XP_011511993.1:p.Arg141Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658802431",
      "coordinates": [
        {
          "allele": "TT",
          "end": 1340,
          "referenceAllele": "GA",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031673",
      "geneNCBI_id": 389207,
      "geneSymbol": "GRXCR1",
      "hgvs": [
        "NM_001080476.3:c.785_786delinsTT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073945.1:p.Arg262Leu",
        "hgvsWellDefined": "NP_001073945.1:p.Arg262Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000399770.3:c.785_786delinsTT"
          },
          "RefSeq": {
            "hgvs": "NM_001080476.3:c.785_786delinsTT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382670.2:p.Arg262Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001073945.1:p.Arg262Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}