{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2968109667",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.871del (p.Leu291CysfsTer?)"
  ],
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      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965601,
          "referenceAllele": "G",
          "start": 37965600
        }
      ],
      "hgvs": [
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        "CM000670.2:g.37965601del"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37823119,
          "referenceAllele": "G",
          "start": 37823118
        }
      ],
      "hgvs": [
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        "CM000670.1:g.37823119del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942276,
          "referenceAllele": "G",
          "start": 37942275
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942276del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6068,
          "referenceAllele": "C",
          "start": 6067
        }
      ],
      "hgvs": [
        "NG_011936.1:g.6068del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1001,
          "referenceAllele": "C",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.871del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Leu291CysfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Leu291del;Thr293_Thr302delinsAlaProTrpValSerSerTrpAlaProSer;Cys304_Leu306delinsSerAlaGlyCys;Phe308Ser;Leu310_Leu317delinsTrpProThrCysCysAlaProTrp;Gly319Ala]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.871del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.871del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Leu291CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Leu291CysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 999,
          "referenceAllele": "C",
          "start": 998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.999del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 355,
          "referenceAllele": "C",
          "start": 354
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.355del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Leu119CysfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Leu119del;Thr121_Thr130delinsAlaProTrpValSerSerTrpAlaProSer;Cys132_Leu134delinsSerAlaGlyCys;Phe136Ser;Leu138_Leu145delinsTrpProThrCysCysAlaProTrp;Gly147Ala]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.871del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Leu291CysfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Leu291del;Thr293_Thr302delinsAlaProTrpValSerSerTrpAlaProSer;Cys304_Leu306delinsSerAlaGlyCys;Phe308Ser;Leu310_Leu317delinsTrpProThrCysCysAlaProTrp;Gly319Ala]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 146,
          "referenceAllele": "C",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.146del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.871del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Leu291CysfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Leu291del;Thr293_Thr302delinsAlaProTrpValSerSerTrpAlaProSer;Cys304_Leu306delinsSerAlaGlyCys;Phe308Ser;Leu310_Leu317delinsTrpProThrCysCysAlaProTrp;Gly319Ala]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1068,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.871del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Leu291CysfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Leu291del;Thr293_Thr302delinsAlaProTrpValSerSerTrpAlaProSer;Cys304_Leu306delinsSerAlaGlyCys;Phe308Ser;Leu310_Leu317delinsTrpProThrCysCysAlaProTrp;Gly319Ala]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1001,
          "referenceAllele": "C",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.871del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Leu291CysfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Leu291del;Thr293_Thr302delinsAlaProTrpValSerSerTrpAlaProSer;Cys304_Leu306delinsSerAlaGlyCys;Phe308Ser;Leu310_Leu317delinsTrpProThrCysCysAlaProTrp;Gly319Ala]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.871del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.871del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Leu291CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Leu291CysfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}