{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA202464673",
  "communityStandardTitle": [
    "NM_001002295.2(GATA3):c.*266dup"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1191107[alleleid]",
        "alleleId": 1191107,
        "preferredName": "NM_001002295.2(GATA3):c.*266dup"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1201835",
        "RCV": [
          "RCV001567331"
        ],
        "variationId": 1201835
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.8116251_8116252insT?assembly=hg19",
        "id": "chr10:g.8116251_8116252insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.8074288_8074289insT?assembly=hg38",
        "id": "chr10:g.8074288_8074289insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/58582188",
        "rs": 58582188
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-8116251-A-AT?dataset=gnomad_r2_1",
        "id": "10-8116251-A-AT",
        "variant": "10:8116251 A / AT"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-8074288-A-AT?dataset=gnomad_r3",
        "id": "10-8074288-A-AT",
        "variant": "10:8074288 A / AT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-8074288-A-AT?dataset=gnomad_r4",
        "id": "10-8074288-A-AT",
        "variant": "10:8074288 A / AT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 8074289,
          "referenceAllele": "",
          "start": 8074289
        }
      ],
      "hgvs": [
        "NC_000010.11:g.8074289dup",
        "CM000672.2:g.8074289dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 8116252,
          "referenceAllele": "",
          "start": 8116252
        }
      ],
      "hgvs": [
        "NC_000010.10:g.8116252dup",
        "CM000672.1:g.8116252dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 8156258,
          "referenceAllele": "",
          "start": 8156258
        }
      ],
      "hgvs": [
        "NC_000010.9:g.8156258dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24586,
          "referenceAllele": "",
          "start": 24586
        }
      ],
      "hgvs": [
        "NG_015859.1:g.24586dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002884"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2049,
          "referenceAllele": "",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "ENST00000346208.4:c.*266dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341619.3:n.*266dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2174,
          "referenceAllele": "",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "ENST00000379328.9:c.*266dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368632.3:n.*266dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752209",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379328.9:c.*266dup"
          },
          "RefSeq": {
            "hgvs": "NM_001002295.2:c.*266dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368632.3:n.*266dup"
          },
          "RefSeq": {
            "hgvs": "NP_001002295.1:n.*266dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2053,
          "referenceAllele": "",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "ENST00000346208.3:c.*266dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341619.3:n.*266dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262240"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2169,
          "referenceAllele": "",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "ENST00000379328.7:c.*266dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368632.3:n.*266dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2158,
          "referenceAllele": "",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "NM_001002295.1:c.*266dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002295.1:n.*266dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2155,
          "referenceAllele": "",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "NM_002051.2:c.*266dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_002042.1:n.*266dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2140,
          "referenceAllele": "",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "XM_005252442.2:c.*266dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252499.1:n.*266dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059944"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2058,
          "referenceAllele": "",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "XM_005252443.3:c.*266dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252500.1:n.*266dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2066,
          "referenceAllele": "",
          "start": 2066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "XM_005252443.5:c.*266dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252500.1:n.*266dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2174,
          "referenceAllele": "",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "NM_001002295.2:c.*266dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002295.1:n.*266dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662729",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379328.9:c.*266dup"
          },
          "RefSeq": {
            "hgvs": "NM_001002295.2:c.*266dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368632.3:n.*266dup"
          },
          "RefSeq": {
            "hgvs": "NP_001002295.1:n.*266dup"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2171,
          "referenceAllele": "",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004172",
      "geneNCBI_id": 2625,
      "geneSymbol": "GATA3",
      "hgvs": [
        "NM_002051.3:c.*266dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_002042.1:n.*266dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695442"
    }
  ],
  "type": "nucleotide"
}