{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3249649440",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.971del (p.Pro324ArgfsTer8)"
  ],
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      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "G",
          "start": 37965500
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
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        {
          "allele": "",
          "end": 37823019,
          "referenceAllele": "G",
          "start": 37823018
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      ],
      "hgvs": [
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        "CM000670.1:g.37823019del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942176,
          "referenceAllele": "G",
          "start": 37942175
        }
      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6168,
          "referenceAllele": "C",
          "start": 6167
        }
      ],
      "hgvs": [
        "NG_011936.1:g.6168del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1101,
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          "start": 1100
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      ],
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      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000345060.5:c.971del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.971del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Pro324ArgfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Pro324ArgfsTer8"
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      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1099,
          "referenceAllele": "C",
          "start": 1098
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      ],
      "gene": "http://reg.genome.network/gene/GN000288",
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      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.1099del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 455,
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          "start": 454
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      ],
      "hgvs": [
        "ENST00000647937.1:c.455del"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000497740.1:p.[Pro152_Pro154delinsArg;Phe156Arg;Ala158_Asn166del;Ala168_Pro171del;Ile173_Ser177del;Asp179_Arg181del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
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      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
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      "hgvs": [
        "ENST00000345060.4:c.971del"
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      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Pro324ArgfsTer8",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Pro324_Pro326delinsArg;Phe328Arg;Ala330_Asn338del;Ala340_Pro343del;Ile345_Ser349del;Asp351_Arg353del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "C",
          "start": 245
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      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.246del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
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      "hgvs": [
        "ENST00000614635.1:c.971del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Pro324ArgfsTer8",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Pro324_Pro326delinsArg;Phe328Arg;Ala330_Asn338del;Ala340_Pro343del;Ile345_Ser349del;Asp351_Arg353del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.971del"
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      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Pro324ArgfsTer8",
        "hgvsWellDefined": "NP_000016.1:p.[Pro324_Pro326delinsArg;Phe328Arg;Ala330_Asn338del;Ala340_Pro343del;Ile345_Ser349del;Asp351_Arg353del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1101,
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      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.971del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Pro324ArgfsTer8",
        "hgvsWellDefined": "NP_000016.1:p.[Pro324_Pro326delinsArg;Phe328Arg;Ala330_Asn338del;Ala340_Pro343del;Ile345_Ser349del;Asp351_Arg353del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.971del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.971del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Pro324ArgfsTer8"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Pro324ArgfsTer8"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}