{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA008271",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.1896_1900delinsCGTGC (p.Glu632_Cys634delinsAspValArg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43609944_43609948delinsCGTGC?assembly=hg19",
        "id": "chr10:g.43609944_43609948delinsCGTGC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.43114496_43114500delinsCGTGC?assembly=hg38",
        "id": "chr10:g.43114496_43114500delinsCGTGC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377767408",
        "rs": 377767408
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 43114500,
          "referenceAllele": "GCTGT",
          "start": 43114495
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43114496_43114500delinsCGTGC",
        "CM000672.2:g.43114496_43114500delinsCGTGC"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 43609948,
          "referenceAllele": "GCTGT",
          "start": 43609943
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43609944_43609948delinsCGTGC",
        "CM000672.1:g.43609944_43609948delinsCGTGC"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 42929954,
          "referenceAllele": "GCTGT",
          "start": 42929949
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42929950_42929954delinsCGTGC"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 42432,
          "referenceAllele": "GCTGT",
          "start": 42427
        }
      ],
      "hgvs": [
        "NG_007489.1:g.42428_42432delinsCGTGC",
        "LRG_518:g.42428_42432delinsCGTGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 1677,
          "referenceAllele": "GCTGT",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.1500_1504delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Glu500_Cys502delinsAspValArg",
        "hgvsWellDefined": "ENSP00000480088.2:p.Glu500_Cys502delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 1474,
          "referenceAllele": "GCTGT",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.1470_1474delinsCGTGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 1465,
          "referenceAllele": "GCTGT",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683872.1:n.1461_1465delinsCGTGC"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828839"
    },
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 2090,
          "referenceAllele": "GCTGT",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.1896_1900delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Glu632_Cys634delinsAspValArg",
        "hgvsWellDefined": "ENSP00000344798.4:p.Glu632_Cys634delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 2090,
          "referenceAllele": "GCTGT",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.1896_1900delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Glu632_Cys634delinsAspValArg",
        "hgvsWellDefined": "ENSP00000347942.3:p.Glu632_Cys634delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1896_1900delinsCGTGC"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1896_1900delinsCGTGC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Glu632_Cys634delinsAspValArg"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Glu632_Cys634delinsAspValArg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 1457,
          "referenceAllele": "GCTGT",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*490_*494delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*490_*494delinsCGTGC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 900,
          "referenceAllele": "GCTGT",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*490_*494delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*490_*494delinsCGTGC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 2080,
          "referenceAllele": "GCTGT",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.1896_1900delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Glu632_Cys634delinsAspValArg",
        "hgvsWellDefined": "ENSP00000344798.4:p.Glu632_Cys634delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 2132,
          "referenceAllele": "GCTGT",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.1896_1900delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Glu632_Cys634delinsAspValArg",
        "hgvsWellDefined": "ENSP00000347942.3:p.Glu632_Cys634delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 636,
          "referenceAllele": "GCTGT",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000498820.5:c.447_451delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419080.1:p.Glu149_Cys151delinsAspValArg",
        "hgvsWellDefined": "ENSP00000419080.1:p.Glu149_Cys151delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247185"
    },
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 1479,
          "endIntronDirection": "+",
          "endIntronOffset": 3268,
          "referenceAllele": "GCTGT",
          "start": 1479,
          "startIntronDirection": "+",
          "startIntronOffset": 3263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.1289+3264_1289+3268delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:n.1289+3264_1289+3268delinsCGTGC"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128267",
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 2090,
          "referenceAllele": "GCTGT",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.1896_1900delinsCGTGC",
        "LRG_518t2:c.1896_1900delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Glu632_Cys634delinsAspValArg",
        "hgvsWellDefined": "NP_065681.1:p.Glu632_Cys634delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128268",
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 2090,
          "referenceAllele": "GCTGT",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.1896_1900delinsCGTGC",
        "LRG_518t1:c.1896_1900delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Glu632_Cys634delinsAspValArg",
        "hgvsWellDefined": "NP_066124.1:p.Glu632_Cys634delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 2132,
          "referenceAllele": "GCTGT",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.1896_1900delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Glu632_Cys634delinsAspValArg",
        "hgvsWellDefined": "XP_011538329.1:p.Glu632_Cys634delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 1495,
          "referenceAllele": "GCTGT",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.1134_1138delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Glu378_Cys380delinsAspValArg",
        "hgvsWellDefined": "NP_001342145.1:p.Glu378_Cys380delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128267",
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 2132,
          "referenceAllele": "GCTGT",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.1896_1900delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Glu632_Cys634delinsAspValArg",
        "hgvsWellDefined": "NP_065681.1:p.Glu632_Cys634delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128268",
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 2132,
          "referenceAllele": "GCTGT",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.1896_1900delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Glu632_Cys634delinsAspValArg",
        "hgvsWellDefined": "NP_066124.1:p.Glu632_Cys634delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA128268",
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 2090,
          "referenceAllele": "GCTGT",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.1896_1900delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Glu632_Cys634delinsAspValArg",
        "hgvsWellDefined": "NP_066124.1:p.Glu632_Cys634delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1896_1900delinsCGTGC"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1896_1900delinsCGTGC"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Glu632_Cys634delinsAspValArg"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Glu632_Cys634delinsAspValArg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA128267",
      "coordinates": [
        {
          "allele": "CGTGC",
          "end": 2090,
          "referenceAllele": "GCTGT",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.1896_1900delinsCGTGC"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Glu632_Cys634delinsAspValArg",
        "hgvsWellDefined": "NP_065681.1:p.Glu632_Cys634delinsAspValArg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}