{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2968109783",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.785del (p.Pro262ArgfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965688,
          "referenceAllele": "G",
          "start": 37965687
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965688del",
        "CM000670.2:g.37965688del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37823206,
          "referenceAllele": "G",
          "start": 37823205
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823206del",
        "CM000670.1:g.37823206del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942363,
          "referenceAllele": "G",
          "start": 37942362
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942363del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5982,
          "referenceAllele": "C",
          "start": 5981
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5982del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.785del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Pro262ArgfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Pro262_Val263delinsArgTrp;Thr265_Pro268delinsArgAlaLeuArg;Glu270Lys;Val272Cys;Pro273dup;Cys275Ala;Arg277_Pro279delinsGlyProArg;Arg281_Leu282delinsSerCys;Pro284_Leu291delinsSerGlyAsnThrGlyProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.785del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.785del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Pro262ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Pro262ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.913del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.269del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Pro90ArgfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Pro90_Val91delinsArgTrp;Thr93_Pro96delinsArgAlaLeuArg;Glu98Lys;Val100Cys;Pro101dup;Cys103Ala;Arg105_Pro107delinsGlyProArg;Arg109_Leu110delinsSerCys;Pro112_Leu119delinsSerGlyAsnThrGlyProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1281,
          "referenceAllele": "C",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.785del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Pro262ArgfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Pro262_Val263delinsArgTrp;Thr265_Pro268delinsArgAlaLeuArg;Glu270Lys;Val272Cys;Pro273dup;Cys275Ala;Arg277_Pro279delinsGlyProArg;Arg281_Leu282delinsSerCys;Pro284_Leu291delinsSerGlyAsnThrGlyProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 60,
          "referenceAllele": "C",
          "start": 59
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.60del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 982,
          "referenceAllele": "C",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.785del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Pro262ArgfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Pro262_Val263delinsArgTrp;Thr265_Pro268delinsArgAlaLeuArg;Glu270Lys;Val272Cys;Pro273dup;Cys275Ala;Arg277_Pro279delinsGlyProArg;Arg281_Leu282delinsSerCys;Pro284_Leu291delinsSerGlyAsnThrGlyProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 982,
          "referenceAllele": "C",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.785del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Pro262ArgfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Pro262_Val263delinsArgTrp;Thr265_Pro268delinsArgAlaLeuArg;Glu270Lys;Val272Cys;Pro273dup;Cys275Ala;Arg277_Pro279delinsGlyProArg;Arg281_Leu282delinsSerCys;Pro284_Leu291delinsSerGlyAsnThrGlyProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.785del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Pro262ArgfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Pro262_Val263delinsArgTrp;Thr265_Pro268delinsArgAlaLeuArg;Glu270Lys;Val272Cys;Pro273dup;Cys275Ala;Arg277_Pro279delinsGlyProArg;Arg281_Leu282delinsSerCys;Pro284_Leu291delinsSerGlyAsnThrGlyProCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.785del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.785del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Pro262ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Pro262ArgfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}