{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2686921750",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.1175_1184del (p.Ala392GlyfsTer?)"
  ],
  "externalRecords": {
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      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-37965285-CCTGGGCTGCG-C?dataset=gnomad_r4",
        "id": "8-37965285-CCTGGGCTGCG-C",
        "variant": "8:37965285 CCTGGGCTGCG / C"
      }
    ]
  },
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      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965304,
          "referenceAllele": "GCTGGGCTGC",
          "start": 37965294
        }
      ],
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        "NC_000008.11:g.37965295_37965304del",
        "CM000670.2:g.37965295_37965304del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37822822,
          "referenceAllele": "GCTGGGCTGC",
          "start": 37822812
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37822813_37822822del",
        "CM000670.1:g.37822813_37822822del"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37941979,
          "referenceAllele": "GCTGGGCTGC",
          "start": 37941969
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37941970_37941979del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6381,
          "referenceAllele": "GCGCAGCCCA",
          "start": 6371
        }
      ],
      "hgvs": [
        "NG_011936.1:g.6372_6381del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1314,
          "referenceAllele": "GCGCAGCCCA",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.1175_1184del"
      ],
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        "hgvs": "ENSP00000343782.3:p.Ala392GlyfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Pro391_Ala392insGlyPhe;Gln393_Arg395delinsAsnGlySerThrGly;Cys397_Arg399delinsLeuGlyGluPhe;Asp401delinsArgProGlu;Gly402_Ala403insGlnGlu;Ser404_Ser408delinsThrThrLeuLeuIleArgThrCysGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000345060.5:c.1175_1184del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.1175_1184del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Ala392GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Ala392GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1312,
          "referenceAllele": "GCGCAGCCCA",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.1303_1312del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 668,
          "referenceAllele": "GCGCAGCCCA",
          "start": 658
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.659_668del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Ala220GlyfsTer12",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Ala220_Asp229delinsGlyPheAlaAsn;Lys231_Gln232del;Leu234_Leu243del;Lys245_Lys247delinsGlySerArg;Lys249_Leu252del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1680,
          "referenceAllele": "GCGCAGCCCA",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.1175_1184del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Ala392GlyfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Pro391_Ala392insGlyPhe;Gln393_Arg395delinsAsnGlySerThrGly;Cys397_Arg399delinsLeuGlyGluPhe;Asp401delinsArgProGlu;Gly402_Ala403insGlnGlu;Ser404_Ser408delinsThrThrLeuLeuIleArgThrCysGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 459,
          "referenceAllele": "GCGCAGCCCA",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.450_459del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1381,
          "referenceAllele": "GCGCAGCCCA",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.1175_1184del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Ala392GlyfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Pro391_Ala392insGlyPhe;Gln393_Arg395delinsAsnGlySerThrGly;Cys397_Arg399delinsLeuGlyGluPhe;Asp401delinsArgProGlu;Gly402_Ala403insGlnGlu;Ser404_Ser408delinsThrThrLeuLeuIleArgThrCysGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1381,
          "referenceAllele": "GCGCAGCCCA",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.1175_1184del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Ala392GlyfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Pro391_Ala392insGlyPhe;Gln393_Arg395delinsAsnGlySerThrGly;Cys397_Arg399delinsLeuGlyGluPhe;Asp401delinsArgProGlu;Gly402_Ala403insGlnGlu;Ser404_Ser408delinsThrThrLeuLeuIleArgThrCysGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1314,
          "referenceAllele": "GCGCAGCCCA",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.1175_1184del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Ala392GlyfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Pro391_Ala392insGlyPhe;Gln393_Arg395delinsAsnGlySerThrGly;Cys397_Arg399delinsLeuGlyGluPhe;Asp401delinsArgProGlu;Gly402_Ala403insGlnGlu;Ser404_Ser408delinsThrThrLeuLeuIleArgThrCysGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.1175_1184del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.1175_1184del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Ala392GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Ala392GlyfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}