{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2686921901",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.738del (p.Glu248ArgfsTer?)"
  ],
  "externalRecords": {
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-37965731-GC-G?dataset=gnomad_r4",
        "id": "8-37965731-GC-G",
        "variant": "8:37965731 GC / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965732,
          "referenceAllele": "C",
          "start": 37965731
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965732del",
        "CM000670.2:g.37965732del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37823250,
          "referenceAllele": "C",
          "start": 37823249
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823250del",
        "CM000670.1:g.37823250del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942407,
          "referenceAllele": "C",
          "start": 37942406
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942407del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5935,
          "referenceAllele": "G",
          "start": 5934
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5935del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 868,
          "referenceAllele": "G",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.738del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Glu248ArgfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Glu248_Glu249delinsArg;Pro251_Ser255delinsLeuArgArgArgArg;Ser257Ala;Ala259Trp;Ala261Arg;Val263_Cys266delinsArgTrpGlyArg;Pro268delinsLeuArg;Glu270Lys;Val272Cys;Ala274_Gly276delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.738del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.738del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Glu248ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Glu248ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 866,
          "referenceAllele": "G",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.866del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 222,
          "referenceAllele": "G",
          "start": 221
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.222del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Glu76ArgfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Glu76_Glu77delinsArg;Pro79_Ser83delinsLeuArgArgArgArg;Ser85Ala;Ala87Trp;Ala89Arg;Val91_Cys94delinsArgTrpGlyArg;Pro96delinsLeuArg;Glu98Lys;Val100Cys;Ala102_Gly104delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1234,
          "referenceAllele": "G",
          "start": 1233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.738del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Glu248ArgfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Glu248_Glu249delinsArg;Pro251_Ser255delinsLeuArgArgArgArg;Ser257Ala;Ala259Trp;Ala261Arg;Val263_Cys266delinsArgTrpGlyArg;Pro268delinsLeuArg;Glu270Lys;Val272Cys;Ala274_Gly276delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 13,
          "referenceAllele": "G",
          "start": 12
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.13del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.738del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Glu248ArgfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Glu248_Glu249delinsArg;Pro251_Ser255delinsLeuArgArgArgArg;Ser257Ala;Ala259Trp;Ala261Arg;Val263_Cys266delinsArgTrpGlyArg;Pro268delinsLeuArg;Glu270Lys;Val272Cys;Ala274_Gly276delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.738del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Glu248ArgfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Glu248_Glu249delinsArg;Pro251_Ser255delinsLeuArgArgArgArg;Ser257Ala;Ala259Trp;Ala261Arg;Val263_Cys266delinsArgTrpGlyArg;Pro268delinsLeuArg;Glu270Lys;Val272Cys;Ala274_Gly276delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 868,
          "referenceAllele": "G",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.738del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Glu248ArgfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Glu248_Glu249delinsArg;Pro251_Ser255delinsLeuArgArgArgArg;Ser257Ala;Ala259Trp;Ala261Arg;Val263_Cys266delinsArgTrpGlyArg;Pro268delinsLeuArg;Glu270Lys;Val272Cys;Ala274_Gly276delinsProAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.738del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.738del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Glu248ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Glu248ArgfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}