{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2968110106",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.569dup (p.His190GlnfsTer?)"
  ],
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    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 37965901,
          "referenceAllele": "",
          "start": 37965901
        }
      ],
      "hgvs": [
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        "CM000670.2:g.37965901dup"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 37823419,
          "referenceAllele": "",
          "start": 37823419
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823419dup",
        "CM000670.1:g.37823419dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 37942576,
          "referenceAllele": "",
          "start": 37942576
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942576dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5766,
          "referenceAllele": "",
          "start": 5766
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5766dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.569dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.His190GlnfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[His190_Asn192delinsGlnLeuGln;Arg194_Cys195delinsAlaLeuLeu;Ala197_Tyr204delinsLeuArgLeuGlnHisAlaLeuArgAlaAla;Ser208_Val219delinsArgLeuLeuLeuProSerSerSerArgAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.569dup"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.569dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.His190GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.His190GlnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 697,
          "referenceAllele": "",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.697dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 53,
          "referenceAllele": "",
          "start": 53
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.53dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.His18GlnfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[His18_Asn20delinsGlnLeuGln;Arg22_Cys23delinsAlaLeuLeu;Ala25_Tyr32delinsLeuArgLeuGlnHisAlaLeuArgAlaAla;Ser36_Val47delinsArgLeuLeuLeuProSerSerSerArgAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "referenceAllele": "",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.569dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.His190GlnfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[His190_Asn192delinsGlnLeuGln;Arg194_Cys195delinsAlaLeuLeu;Ala197_Tyr204delinsLeuArgLeuGlnHisAlaLeuArgAlaAla;Ser208_Val219delinsArgLeuLeuLeuProSerSerSerArgAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 766,
          "referenceAllele": "",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.569dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.His190GlnfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[His190_Asn192delinsGlnLeuGln;Arg194_Cys195delinsAlaLeuLeu;Ala197_Tyr204delinsLeuArgLeuGlnHisAlaLeuArgAlaAla;Ser208_Val219delinsArgLeuLeuLeuProSerSerSerArgAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 766,
          "referenceAllele": "",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.569dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.His190GlnfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[His190_Asn192delinsGlnLeuGln;Arg194_Cys195delinsAlaLeuLeu;Ala197_Tyr204delinsLeuArgLeuGlnHisAlaLeuArgAlaAla;Ser208_Val219delinsArgLeuLeuLeuProSerSerSerArgAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 699,
          "referenceAllele": "",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.569dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.His190GlnfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[His190_Asn192delinsGlnLeuGln;Arg194_Cys195delinsAlaLeuLeu;Ala197_Tyr204delinsLeuArgLeuGlnHisAlaLeuArgAlaAla;Ser208_Val219delinsArgLeuLeuLeuProSerSerSerArgAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.569dup"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.569dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.His190GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.His190GlnfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}