{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2968110107",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.566dup (p.Cys189TrpfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 37965904,
          "referenceAllele": "",
          "start": 37965904
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965904dup",
        "CM000670.2:g.37965904dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 37823422,
          "referenceAllele": "",
          "start": 37823422
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823422dup",
        "CM000670.1:g.37823422dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 37942579,
          "referenceAllele": "",
          "start": 37942579
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942579dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5763,
          "referenceAllele": "",
          "start": 5763
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5763dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.566dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Cys189TrpfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Cys189_Asn192delinsTrpProLeuGln;Arg194_Cys195delinsAlaLeuLeu;Ala197_Tyr204delinsLeuArgLeuGlnHisAlaLeuArgAlaAla;Ser208_Leu218delinsArgLeuLeuLeuProSerSerSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.566dup"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.566dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Cys189TrpfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Cys189TrpfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 694,
          "referenceAllele": "",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.694dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50,
          "referenceAllele": "",
          "start": 50
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.50dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Cys17TrpfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Cys17_Asn20delinsTrpProLeuGln;Arg22_Cys23delinsAlaLeuLeu;Ala25_Tyr32delinsLeuArgLeuGlnHisAlaLeuArgAlaAla;Ser36_Leu46delinsArgLeuLeuLeuProSerSerSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1062,
          "referenceAllele": "",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.566dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Cys189TrpfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Cys189_Asn192delinsTrpProLeuGln;Arg194_Cys195delinsAlaLeuLeu;Ala197_Tyr204delinsLeuArgLeuGlnHisAlaLeuArgAlaAla;Ser208_Leu218delinsArgLeuLeuLeuProSerSerSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 763,
          "referenceAllele": "",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.566dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Cys189TrpfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Cys189_Asn192delinsTrpProLeuGln;Arg194_Cys195delinsAlaLeuLeu;Ala197_Tyr204delinsLeuArgLeuGlnHisAlaLeuArgAlaAla;Ser208_Leu218delinsArgLeuLeuLeuProSerSerSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 763,
          "referenceAllele": "",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.566dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Cys189TrpfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Cys189_Asn192delinsTrpProLeuGln;Arg194_Cys195delinsAlaLeuLeu;Ala197_Tyr204delinsLeuArgLeuGlnHisAlaLeuArgAlaAla;Ser208_Leu218delinsArgLeuLeuLeuProSerSerSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.566dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Cys189TrpfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Cys189_Asn192delinsTrpProLeuGln;Arg194_Cys195delinsAlaLeuLeu;Ala197_Tyr204delinsLeuArgLeuGlnHisAlaLeuArgAlaAla;Ser208_Leu218delinsArgLeuLeuLeuProSerSerSerArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.566dup"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.566dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Cys189TrpfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Cys189TrpfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}