{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645541253",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.1946_1947delinsTA (p.Ser649Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6191580",
        "active": true,
        "id": "COSM6191580"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TA",
          "end": 43114547,
          "referenceAllele": "CG",
          "start": 43114545
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43114546_43114547delinsTA",
        "CM000672.2:g.43114546_43114547delinsTA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TA",
          "end": 43609995,
          "referenceAllele": "CG",
          "start": 43609993
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43609994_43609995delinsTA",
        "CM000672.1:g.43609994_43609995delinsTA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TA",
          "end": 42930001,
          "referenceAllele": "CG",
          "start": 42929999
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42930000_42930001delinsTA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 42479,
          "referenceAllele": "CG",
          "start": 42477
        }
      ],
      "hgvs": [
        "NG_007489.1:g.42478_42479delinsTA",
        "LRG_518:g.42478_42479delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1724,
          "referenceAllele": "CG",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.1550_1551delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Ser517Leu",
        "hgvsWellDefined": "ENSP00000480088.2:p.Ser517Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1521,
          "referenceAllele": "CG",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.1520_1521delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1512,
          "referenceAllele": "CG",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683872.1:n.1511_1512delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828839"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2137,
          "referenceAllele": "CG",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.1946_1947delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Ser649Leu",
        "hgvsWellDefined": "ENSP00000344798.4:p.Ser649Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2137,
          "referenceAllele": "CG",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.1946_1947delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Ser649Leu",
        "hgvsWellDefined": "ENSP00000347942.3:p.Ser649Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1946_1947delinsTA"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1946_1947delinsTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Ser649Leu"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Ser649Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1504,
          "referenceAllele": "CG",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*540_*541delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*540_*541delinsTA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 947,
          "referenceAllele": "CG",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*540_*541delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*540_*541delinsTA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2127,
          "referenceAllele": "CG",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.1946_1947delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Ser649Leu",
        "hgvsWellDefined": "ENSP00000344798.4:p.Ser649Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2179,
          "referenceAllele": "CG",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.1946_1947delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Ser649Leu",
        "hgvsWellDefined": "ENSP00000347942.3:p.Ser649Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 683,
          "referenceAllele": "CG",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000498820.5:c.497_498delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419080.1:p.Ser166Leu",
        "hgvsWellDefined": "ENSP00000419080.1:p.Ser166Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247185"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 3315,
          "referenceAllele": "CG",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 3313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.1289+3314_1289+3315delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:n.1289+3314_1289+3315delinsTA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128309",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2137,
          "referenceAllele": "CG",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.1946_1947delinsTA",
        "LRG_518t2:c.1946_1947delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Ser649Leu",
        "hgvsWellDefined": "NP_065681.1:p.Ser649Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128310",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2137,
          "referenceAllele": "CG",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.1946_1947delinsTA",
        "LRG_518t1:c.1946_1947delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Ser649Leu",
        "hgvsWellDefined": "NP_066124.1:p.Ser649Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2179,
          "referenceAllele": "CG",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.1946_1947delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Ser649Leu",
        "hgvsWellDefined": "XP_011538329.1:p.Ser649Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828047730",
      "coordinates": [
        {
          "allele": "TA",
          "end": 1542,
          "referenceAllele": "CG",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.1184_1185delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Ser395Leu",
        "hgvsWellDefined": "NP_001342145.1:p.Ser395Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128309",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2179,
          "referenceAllele": "CG",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.1946_1947delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Ser649Leu",
        "hgvsWellDefined": "NP_065681.1:p.Ser649Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128310",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2179,
          "referenceAllele": "CG",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.1946_1947delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Ser649Leu",
        "hgvsWellDefined": "NP_066124.1:p.Ser649Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128310",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2137,
          "referenceAllele": "CG",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.1946_1947delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Ser649Leu",
        "hgvsWellDefined": "NP_066124.1:p.Ser649Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1946_1947delinsTA"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1946_1947delinsTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Ser649Leu"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Ser649Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA128309",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2137,
          "referenceAllele": "CG",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.1946_1947delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Ser649Leu",
        "hgvsWellDefined": "NP_065681.1:p.Ser649Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}