{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2968109656",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.949dup (p.Leu317ProfsTer?)"
  ],
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    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 37965523,
          "referenceAllele": "",
          "start": 37965523
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965523dup",
        "CM000670.2:g.37965523dup"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 37823041,
          "referenceAllele": "",
          "start": 37823041
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823041dup",
        "CM000670.1:g.37823041dup"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 37942198,
          "referenceAllele": "",
          "start": 37942198
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942198dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6146,
          "referenceAllele": "",
          "start": 6146
        }
      ],
      "hgvs": [
        "NG_011936.1:g.6146dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1079,
          "referenceAllele": "",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.949dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Leu317ProfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Leu317Pro;Ser321_Val323delinsLeuSerSer;Ala327Gly;Leu329_Asn342delinsProCysProGluLeuAlaArgLeuCysGlnPheCysLeuGln;Leu344_Tyr346delinsAlaHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.949dup"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.949dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Leu317ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Leu317ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1077,
          "referenceAllele": "",
          "start": 1077
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      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.1077dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 433,
          "referenceAllele": "",
          "start": 433
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.433dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Leu145ProfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Leu145Pro;Ser149_Val151delinsLeuSerSer;Ala155Gly;Leu157_Asn170delinsProCysProGluLeuAlaArgLeuCysGlnPheCysLeuGln;Leu172_Tyr174delinsAlaHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "referenceAllele": "",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.949dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Leu317ProfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Leu317Pro;Ser321_Val323delinsLeuSerSer;Ala327Gly;Leu329_Asn342delinsProCysProGluLeuAlaArgLeuCysGlnPheCysLeuGln;Leu344_Tyr346delinsAlaHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224,
          "referenceAllele": "",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.224dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1146,
          "referenceAllele": "",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.949dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Leu317ProfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Leu317Pro;Ser321_Val323delinsLeuSerSer;Ala327Gly;Leu329_Asn342delinsProCysProGluLeuAlaArgLeuCysGlnPheCysLeuGln;Leu344_Tyr346delinsAlaHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1146,
          "referenceAllele": "",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.949dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Leu317ProfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Leu317Pro;Ser321_Val323delinsLeuSerSer;Ala327Gly;Leu329_Asn342delinsProCysProGluLeuAlaArgLeuCysGlnPheCysLeuGln;Leu344_Tyr346delinsAlaHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1079,
          "referenceAllele": "",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.949dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Leu317ProfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Leu317Pro;Ser321_Val323delinsLeuSerSer;Ala327Gly;Leu329_Asn342delinsProCysProGluLeuAlaArgLeuCysGlnPheCysLeuGln;Leu344_Tyr346delinsAlaHisLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.949dup"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.949dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Leu317ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Leu317ProfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}