{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2968110021",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.653dup (p.Val219ArgfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 37965817,
          "referenceAllele": "",
          "start": 37965817
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965817dup",
        "CM000670.2:g.37965817dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 37823335,
          "referenceAllele": "",
          "start": 37823335
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823335dup",
        "CM000670.1:g.37823335dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 37942492,
          "referenceAllele": "",
          "start": 37942492
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942492dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5850,
          "referenceAllele": "",
          "start": 5850
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5850dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.653dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Val219ArgfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Val219_Met220delinsArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Pro247delinsAlaGlyProLeuSerAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.653dup"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.653dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Val219ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Val219ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.781dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "referenceAllele": "",
          "start": 137
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.137dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Val47ArgfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Val47_Met48delinsArgAspAla;Phe50_Tyr52delinsArgLeuArg;Arg54_Val58delinsGlyPheArgGlyGlyTyr;Thr60_Gln62delinsProAlaAla;Arg64_Leu66delinsAlaAla;Glu69_Pro75delinsAlaGlyProLeuSerAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1149,
          "referenceAllele": "",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.653dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Val219ArgfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Val219_Met220delinsArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Pro247delinsAlaGlyProLeuSerAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.653dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Val219ArgfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Val219_Met220delinsArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Pro247delinsAlaGlyProLeuSerAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.653dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Val219ArgfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Val219_Met220delinsArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Pro247delinsAlaGlyProLeuSerAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.653dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Val219ArgfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Val219_Met220delinsArgAspAla;Phe222_Tyr224delinsArgLeuArg;Arg226_Val230delinsGlyPheArgGlyGlyTyr;Thr232_Gln234delinsProAlaAla;Arg236_Leu238delinsAlaAla;Glu241_Pro247delinsAlaGlyProLeuSerAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.653dup"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.653dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Val219ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Val219ArgfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}