{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2968109669",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.858_859del (p.Glu287ThrfsTer?)"
  ],
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      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965613,
          "referenceAllele": "CC",
          "start": 37965611
        }
      ],
      "hgvs": [
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        "CM000670.2:g.37965612_37965613del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37823131,
          "referenceAllele": "CC",
          "start": 37823129
        }
      ],
      "hgvs": [
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        "CM000670.1:g.37823130_37823131del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942288,
          "referenceAllele": "CC",
          "start": 37942286
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942287_37942288del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6056,
          "referenceAllele": "GG",
          "start": 6054
        }
      ],
      "hgvs": [
        "NG_011936.1:g.6055_6056del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 989,
          "referenceAllele": "GG",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.858_859del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Glu287ThrfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Glu287_Thr293delinsThrProGlyProValHis;Leu296_Met298delinsSerHisHis;Thr300_Thr302delinsHis;Cys304_Trp305delinsHisSer;Pro307_Phe309delinsLeuValAla;Ala311_Leu314delinsLeuSerGlyGln;Ala316_Leu317insAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.858_859del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.858_859del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Glu287ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Glu287ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 987,
          "referenceAllele": "GG",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.986_987del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 343,
          "referenceAllele": "GG",
          "start": 341
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.342_343del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Glu115ThrfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Glu115_Thr121delinsThrProGlyProValHis;Leu124_Met126delinsSerHisHis;Thr128_Thr130delinsHis;Cys132_Trp133delinsHisSer;Pro135_Phe137delinsLeuValAla;Ala139_Leu142delinsLeuSerGlyGln;Ala144_Leu145insAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1355,
          "referenceAllele": "GG",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.858_859del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Glu287ThrfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Glu287_Thr293delinsThrProGlyProValHis;Leu296_Met298delinsSerHisHis;Thr300_Thr302delinsHis;Cys304_Trp305delinsHisSer;Pro307_Phe309delinsLeuValAla;Ala311_Leu314delinsLeuSerGlyGln;Ala316_Leu317insAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 134,
          "referenceAllele": "GG",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.133_134del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1056,
          "referenceAllele": "GG",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.858_859del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Glu287ThrfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Glu287_Thr293delinsThrProGlyProValHis;Leu296_Met298delinsSerHisHis;Thr300_Thr302delinsHis;Cys304_Trp305delinsHisSer;Pro307_Phe309delinsLeuValAla;Ala311_Leu314delinsLeuSerGlyGln;Ala316_Leu317insAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1056,
          "referenceAllele": "GG",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.858_859del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Glu287ThrfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Glu287_Thr293delinsThrProGlyProValHis;Leu296_Met298delinsSerHisHis;Thr300_Thr302delinsHis;Cys304_Trp305delinsHisSer;Pro307_Phe309delinsLeuValAla;Ala311_Leu314delinsLeuSerGlyGln;Ala316_Leu317insAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 989,
          "referenceAllele": "GG",
          "start": 987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.858_859del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Glu287ThrfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Glu287_Thr293delinsThrProGlyProValHis;Leu296_Met298delinsSerHisHis;Thr300_Thr302delinsHis;Cys304_Trp305delinsHisSer;Pro307_Phe309delinsLeuValAla;Ala311_Leu314delinsLeuSerGlyGln;Ala316_Leu317insAlaArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.858_859del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.858_859del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Glu287ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Glu287ThrfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}