{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2830563755",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.2647_2648delinsTA (p.Ala883Tyr)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TA",
          "end": 43120121,
          "referenceAllele": "GC",
          "start": 43120119
        }
      ],
      "hgvs": [
        "NC_000010.11:g.43120120_43120121delinsTA",
        "CM000672.2:g.43120120_43120121delinsTA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TA",
          "end": 43615569,
          "referenceAllele": "GC",
          "start": 43615567
        }
      ],
      "hgvs": [
        "NC_000010.10:g.43615568_43615569delinsTA",
        "CM000672.1:g.43615568_43615569delinsTA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "TA",
          "end": 42935575,
          "referenceAllele": "GC",
          "start": 42935573
        }
      ],
      "hgvs": [
        "NC_000010.9:g.42935574_42935575delinsTA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 48053,
          "referenceAllele": "GC",
          "start": 48051
        }
      ],
      "hgvs": [
        "NG_007489.1:g.48052_48053delinsTA",
        "LRG_518:g.48052_48053delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000611"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2425,
          "referenceAllele": "GC",
          "start": 2423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.5:c.2251_2252delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.2:p.Ala751Tyr",
        "hgvsWellDefined": "ENSP00000480088.2:p.Ala751Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826472"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2222,
          "referenceAllele": "GC",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683007.1:n.2221_2222delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827994"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2213,
          "referenceAllele": "GC",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000683872.1:n.2212_2213delinsTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828839"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2838,
          "referenceAllele": "GC",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.6:c.2647_2648delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Ala883Tyr",
        "hgvsWellDefined": "ENSP00000344798.4:p.Ala883Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747868"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2838,
          "referenceAllele": "GC",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.8:c.2647_2648delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Ala883Tyr",
        "hgvsWellDefined": "ENSP00000347942.3:p.Ala883Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748710",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.2647_2648delinsTA"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.2647_2648delinsTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Ala883Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Ala883Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2205,
          "referenceAllele": "GC",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000671844.1:c.*1241_*1242delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500541.1:n.*1241_*1242delinsTA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1648,
          "referenceAllele": "GC",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000672389.1:c.*1241_*1242delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500252.1:n.*1241_*1242delinsTA"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2828,
          "referenceAllele": "GC",
          "start": 2826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000340058.5:c.2647_2648delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344798.4:p.Ala883Tyr",
        "hgvsWellDefined": "ENSP00000344798.4:p.Ala883Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2880,
          "referenceAllele": "GC",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000355710.7:c.2647_2648delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347942.3:p.Ala883Tyr",
        "hgvsWellDefined": "ENSP00000347942.3:p.Ala883Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247251"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1564,
          "referenceAllele": "GC",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "ENST00000615310.4:c.1373_1374delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480088.1:p.Ser458Ile",
        "hgvsWellDefined": "ENSP00000480088.1:p.Ser458Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580650476",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2838,
          "referenceAllele": "GC",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.4:c.2647_2648delinsTA",
        "LRG_518t2:c.2647_2648delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Ala883Tyr",
        "hgvsWellDefined": "NP_065681.1:p.Ala883Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3262019785",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2838,
          "referenceAllele": "GC",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.2647_2648delinsTA",
        "LRG_518t1:c.2647_2648delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Ala883Tyr",
        "hgvsWellDefined": "NP_066124.1:p.Ala883Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2880,
          "referenceAllele": "GC",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.2647_2648delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Ala883Tyr",
        "hgvsWellDefined": "XP_011538329.1:p.Ala883Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2243,
          "referenceAllele": "GC",
          "start": 2241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.1885_1886delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Ala629Tyr",
        "hgvsWellDefined": "NP_001342145.1:p.Ala629Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580650476",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2880,
          "referenceAllele": "GC",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.2647_2648delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Ala883Tyr",
        "hgvsWellDefined": "NP_065681.1:p.Ala883Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3262019785",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2880,
          "referenceAllele": "GC",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.2647_2648delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Ala883Tyr",
        "hgvsWellDefined": "NP_066124.1:p.Ala883Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3262019785",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2838,
          "referenceAllele": "GC",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.2647_2648delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Ala883Tyr",
        "hgvsWellDefined": "NP_066124.1:p.Ala883Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.2647_2648delinsTA"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.2647_2648delinsTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Ala883Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Ala883Tyr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580650476",
      "coordinates": [
        {
          "allele": "TA",
          "end": 2838,
          "referenceAllele": "GC",
          "start": 2836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.2647_2648delinsTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Ala883Tyr",
        "hgvsWellDefined": "NP_065681.1:p.Ala883Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}