{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2968109665",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.884del (p.Gly295ValfsTer28)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965588,
          "referenceAllele": "C",
          "start": 37965587
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965588del",
        "CM000670.2:g.37965588del"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37823106,
          "referenceAllele": "C",
          "start": 37823105
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823106del",
        "CM000670.1:g.37823106del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942263,
          "referenceAllele": "C",
          "start": 37942262
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942263del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6081,
          "referenceAllele": "G",
          "start": 6080
        }
      ],
      "hgvs": [
        "NG_011936.1:g.6081del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1014,
          "referenceAllele": "G",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.884del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Gly295ValfsTer28",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Gly295_Leu306delinsValSerSerTrpAlaProSerLeuSerAlaGlyCys;Phe308Ser;Leu310_Leu317delinsTrpProThrCysCysAlaProTrp;Gly319Ala;Ser321del;Val323_Pro324del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.884del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.884del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Gly295ValfsTer28"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Gly295ValfsTer28"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.1012del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.368del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Gly123ValfsTer28",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Gly123_Leu134delinsValSerSerTrpAlaProSerLeuSerAlaGlyCys;Phe136Ser;Leu138_Leu145delinsTrpProThrCysCysAlaProTrp;Gly147Ala;Ser149del;Val151_Pro152del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1380,
          "referenceAllele": "G",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.884del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Gly295ValfsTer28",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Gly295_Leu306delinsValSerSerTrpAlaProSerLeuSerAlaGlyCys;Phe308Ser;Leu310_Leu317delinsTrpProThrCysCysAlaProTrp;Gly319Ala;Ser321del;Val323_Pro324del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 159,
          "referenceAllele": "G",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.159del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1081,
          "referenceAllele": "G",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.884del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Gly295ValfsTer28",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Gly295_Leu306delinsValSerSerTrpAlaProSerLeuSerAlaGlyCys;Phe308Ser;Leu310_Leu317delinsTrpProThrCysCysAlaProTrp;Gly319Ala;Ser321del;Val323_Pro324del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1081,
          "referenceAllele": "G",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.884del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Gly295ValfsTer28",
        "hgvsWellDefined": "NP_000016.1:p.[Gly295_Leu306delinsValSerSerTrpAlaProSerLeuSerAlaGlyCys;Phe308Ser;Leu310_Leu317delinsTrpProThrCysCysAlaProTrp;Gly319Ala;Ser321del;Val323_Pro324del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1014,
          "referenceAllele": "G",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.884del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Gly295ValfsTer28",
        "hgvsWellDefined": "NP_000016.1:p.[Gly295_Leu306delinsValSerSerTrpAlaProSerLeuSerAlaGlyCys;Phe308Ser;Leu310_Leu317delinsTrpProThrCysCysAlaProTrp;Gly319Ala;Ser321del;Val323_Pro324del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.884del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.884del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Gly295ValfsTer28"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Gly295ValfsTer28"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}