{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2686921885",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.1058_1078del (p.Arg353_Leu359del)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2487766328",
        "rs": 2487766328
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-37965391-AGAAGACGGCGGAAGGCGCTGC-A?dataset=gnomad_r4",
        "id": "8-37965391-AGAAGACGGCGGAAGGCGCTGC-A",
        "variant": "8:37965391 AGAAGACGGCGGAAGGCGCTGC / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965415,
          "referenceAllele": "GACGGCGGAAGGCGCTGCGAA",
          "start": 37965394
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965395_37965415del",
        "CM000670.2:g.37965395_37965415del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37822933,
          "referenceAllele": "GACGGCGGAAGGCGCTGCGAA",
          "start": 37822912
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37822913_37822933del",
        "CM000670.1:g.37822913_37822933del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942090,
          "referenceAllele": "GACGGCGGAAGGCGCTGCGAA",
          "start": 37942069
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942070_37942090del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6275,
          "referenceAllele": "GCGCCTTCCGCCGTCTTCGCA",
          "start": 6254
        }
      ],
      "hgvs": [
        "NG_011936.1:g.6255_6275del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1208,
          "referenceAllele": "GCGCCTTCCGCCGTCTTCGCA",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.1058_1078del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Arg353_Leu359del",
        "hgvsWellDefined": "ENSP00000343782.3:p.Arg353_Leu359del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.1058_1078del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.1058_1078del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Arg353_Leu359del"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Arg353_Leu359del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1206,
          "referenceAllele": "GCGCCTTCCGCCGTCTTCGCA",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.1186_1206del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 562,
          "referenceAllele": "GCGCCTTCCGCCGTCTTCGCA",
          "start": 541
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.542_562del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Arg181_Leu187del",
        "hgvsWellDefined": "ENSP00000497740.1:p.Arg181_Leu187del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1574,
          "referenceAllele": "GCGCCTTCCGCCGTCTTCGCA",
          "start": 1553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.1058_1078del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Arg353_Leu359del",
        "hgvsWellDefined": "ENSP00000343782.3:p.Arg353_Leu359del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 353,
          "referenceAllele": "GCGCCTTCCGCCGTCTTCGCA",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.333_353del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1275,
          "referenceAllele": "GCGCCTTCCGCCGTCTTCGCA",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.1058_1078del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Arg353_Leu359del",
        "hgvsWellDefined": "ENSP00000480325.1:p.Arg353_Leu359del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075476057",
      "coordinates": [
        {
          "allele": "",
          "end": 1275,
          "referenceAllele": "GCGCCTTCCGCCGTCTTCGCA",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.1058_1078del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Arg353_Leu359del",
        "hgvsWellDefined": "NP_000016.1:p.Arg353_Leu359del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075476057",
      "coordinates": [
        {
          "allele": "",
          "end": 1208,
          "referenceAllele": "GCGCCTTCCGCCGTCTTCGCA",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.1058_1078del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Arg353_Leu359del",
        "hgvsWellDefined": "NP_000016.1:p.Arg353_Leu359del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.1058_1078del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.1058_1078del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Arg353_Leu359del"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Arg353_Leu359del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}