{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2968110147",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.364_365insTG (p.Thr122MetfsTer19)"
  ],
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    {
      "chromosome": "8",
      "coordinates": [
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          "end": 37966105,
          "referenceAllele": "",
          "start": 37966105
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37966105_37966106insCA",
        "CM000670.2:g.37966105_37966106insCA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
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          "end": 37823623,
          "referenceAllele": "",
          "start": 37823623
        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
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        {
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          "end": 37942780,
          "referenceAllele": "",
          "start": 37942780
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942780_37942781insCA"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
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          "referenceAllele": "",
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        }
      ],
      "hgvs": [
        "NG_011936.1:g.5561_5562insTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "end": 494,
          "referenceAllele": "",
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        }
      ],
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      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.364_365insTG"
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        "hgvsWellDefined": "ENSP00000343782.3:p.[Thr122_Leu128delinsMetProProAlaSerLysPro;Leu131_Leu137delinsProTrpProTrpThr;Val139del;Asn141_Pro142delinsTrp;Tyr145_Arg152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_000025.3:c.364_365insTG"
          }
        },
        "protein": {
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          },
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            "hgvs": "NP_000016.1:p.Thr122MetfsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TG",
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          "referenceAllele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.492_493insTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
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          "referenceAllele": "",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.364_365insTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Thr122MetfsTer19",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Thr122_Leu128delinsMetProProAlaSerLysPro;Leu131_Leu137delinsProTrpProTrpThr;Val139del;Asn141_Pro142delinsTrp;Tyr145_Arg152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
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          "referenceAllele": "",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.364_365insTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Thr122MetfsTer19",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Thr122_Leu128delinsMetProProAlaSerLysPro;Leu131_Leu137delinsProTrpProTrpThr;Val139del;Asn141_Pro142delinsTrp;Tyr145_Arg152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
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          "referenceAllele": "",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.364_365insTG"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000016.1:p.[Thr122_Leu128delinsMetProProAlaSerLysPro;Leu131_Leu137delinsProTrpProTrpThr;Val139del;Asn141_Pro142delinsTrp;Tyr145_Arg152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "TG",
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          "referenceAllele": "",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.364_365insTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Thr122MetfsTer19",
        "hgvsWellDefined": "NP_000016.1:p.[Thr122_Leu128delinsMetProProAlaSerLysPro;Leu131_Leu137delinsProTrpProTrpThr;Val139del;Asn141_Pro142delinsTrp;Tyr145_Arg152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.364_365insTG"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.364_365insTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Thr122MetfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Thr122MetfsTer19"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}