{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA915945886",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.1900_1901delinsCT (p.Cys634Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=809941[alleleid]",
        "alleleId": 809941,
        "preferredName": "NM_020975.6(RET):c.1900_1901delinsCT (p.Cys634Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/820303",
        "RCV": [
          "RCV001013613",
          "RCV003532347"
        ],
        "variationId": 820303
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1588874068",
        "rs": 1588874068
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "CT",
          "end": 43114501,
          "referenceAllele": "TG",
          "start": 43114499
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43114500_43114501delinsCT",
        "CM000672.2:g.43114500_43114501delinsCT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "CT",
          "end": 43609949,
          "referenceAllele": "TG",
          "start": 43609947
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43609948_43609949delinsCT",
        "CM000672.1:g.43609948_43609949delinsCT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "CT",
          "end": 42929955,
          "referenceAllele": "TG",
          "start": 42929953
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42929954_42929955delinsCT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 42433,
          "referenceAllele": "TG",
          "start": 42431
        }
      ],
      "hgvs": [
        "NG_007489.1:g.42432_42433delinsCT",
        "LRG_518:g.42432_42433delinsCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1678,
          "referenceAllele": "TG",
          "start": 1676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.1504_1505delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Cys502Leu",
        "hgvsWellDefined": "ENSP00000480088.2:p.Cys502Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1475,
          "referenceAllele": "TG",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.1474_1475delinsCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1466,
          "referenceAllele": "TG",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683872.1:n.1465_1466delinsCT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828839"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 2091,
          "referenceAllele": "TG",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.1900_1901delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Cys634Leu",
        "hgvsWellDefined": "ENSP00000344798.4:p.Cys634Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 2091,
          "referenceAllele": "TG",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.1900_1901delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Cys634Leu",
        "hgvsWellDefined": "ENSP00000347942.3:p.Cys634Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1900_1901delinsCT"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1900_1901delinsCT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Cys634Leu"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Cys634Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1458,
          "referenceAllele": "TG",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*494_*495delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*494_*495delinsCT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 901,
          "referenceAllele": "TG",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*494_*495delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*494_*495delinsCT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 2081,
          "referenceAllele": "TG",
          "start": 2079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.1900_1901delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Cys634Leu",
        "hgvsWellDefined": "ENSP00000344798.4:p.Cys634Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 2133,
          "referenceAllele": "TG",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.1900_1901delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Cys634Leu",
        "hgvsWellDefined": "ENSP00000347942.3:p.Cys634Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 637,
          "referenceAllele": "TG",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000498820.5:c.451_452delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419080.1:p.Cys151Leu",
        "hgvsWellDefined": "ENSP00000419080.1:p.Cys151Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247185"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 3269,
          "referenceAllele": "TG",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 3267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.1289+3268_1289+3269delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:n.1289+3268_1289+3269delinsCT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA259293",
      "coordinates": [
        {
          "allele": "CT",
          "end": 2091,
          "referenceAllele": "TG",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.1900_1901delinsCT",
        "LRG_518t2:c.1900_1901delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Cys634Leu",
        "hgvsWellDefined": "NP_065681.1:p.Cys634Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA259294",
      "coordinates": [
        {
          "allele": "CT",
          "end": 2091,
          "referenceAllele": "TG",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.1900_1901delinsCT",
        "LRG_518t1:c.1900_1901delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Cys634Leu",
        "hgvsWellDefined": "NP_066124.1:p.Cys634Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 2133,
          "referenceAllele": "TG",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.1900_1901delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Cys634Leu",
        "hgvsWellDefined": "XP_011538329.1:p.Cys634Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828047646",
      "coordinates": [
        {
          "allele": "CT",
          "end": 1496,
          "referenceAllele": "TG",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.1138_1139delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Cys380Leu",
        "hgvsWellDefined": "NP_001342145.1:p.Cys380Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA259293",
      "coordinates": [
        {
          "allele": "CT",
          "end": 2133,
          "referenceAllele": "TG",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.1900_1901delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Cys634Leu",
        "hgvsWellDefined": "NP_065681.1:p.Cys634Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA259294",
      "coordinates": [
        {
          "allele": "CT",
          "end": 2133,
          "referenceAllele": "TG",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.1900_1901delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Cys634Leu",
        "hgvsWellDefined": "NP_066124.1:p.Cys634Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA259294",
      "coordinates": [
        {
          "allele": "CT",
          "end": 2091,
          "referenceAllele": "TG",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.1900_1901delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Cys634Leu",
        "hgvsWellDefined": "NP_066124.1:p.Cys634Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1900_1901delinsCT"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1900_1901delinsCT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Cys634Leu"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Cys634Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA259293",
      "coordinates": [
        {
          "allele": "CT",
          "end": 2091,
          "referenceAllele": "TG",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.1900_1901delinsCT"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Cys634Leu",
        "hgvsWellDefined": "NP_065681.1:p.Cys634Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}