{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3266955063",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.381_512del (p.Leu128_Ala171del)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37966090,
          "referenceAllele": "CAAACGACACCGCGGCCGACACGACCCACACCAGGACCACAGCTGTCCGGGCGCAGCGCTTGGTGACCAGTGCGCCGTAACGCAGCGGGTTGGTCACAGCCAGGTAGCGGTCCACGGCCAGGGCGCACAGGG",
          "start": 37965958
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965959_37966090del",
        "CM000670.2:g.37965959_37966090del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37823608,
          "referenceAllele": "CAAACGACACCGCGGCCGACACGACCCACACCAGGACCACAGCTGTCCGGGCGCAGCGCTTGGTGACCAGTGCGCCGTAACGCAGCGGGTTGGTCACAGCCAGGTAGCGGTCCACGGCCAGGGCGCACAGGG",
          "start": 37823476
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823477_37823608del",
        "CM000670.1:g.37823477_37823608del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942765,
          "referenceAllele": "CAAACGACACCGCGGCCGACACGACCCACACCAGGACCACAGCTGTCCGGGCGCAGCGCTTGGTGACCAGTGCGCCGTAACGCAGCGGGTTGGTCACAGCCAGGTAGCGGTCCACGGCCAGGGCGCACAGGG",
          "start": 37942633
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942634_37942765del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5709,
          "referenceAllele": "CTGTGCGCCCTGGCCGTGGACCGCTACCTGGCTGTGACCAACCCGCTGCGTTACGGCGCACTGGTCACCAAGCGCTGCGCCCGGACAGCTGTGGTCCTGGTGTGGGTCGTGTCGGCCGCGGTGTCGTTTGCC",
          "start": 5577
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5578_5709del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 642,
          "referenceAllele": "CTGTGCGCCCTGGCCGTGGACCGCTACCTGGCTGTGACCAACCCGCTGCGTTACGGCGCACTGGTCACCAAGCGCTGCGCCCGGACAGCTGTGGTCCTGGTGTGGGTCGTGTCGGCCGCGGTGTCGTTTGCC",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.381_512del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Leu128_Ala171del",
        "hgvsWellDefined": "ENSP00000343782.3:p.Leu128_Ala171del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.381_512del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.381_512del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Leu128_Ala171del"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Leu128_Ala171del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 640,
          "referenceAllele": "CTGTGCGCCCTGGCCGTGGACCGCTACCTGGCTGTGACCAACCCGCTGCGTTACGGCGCACTGGTCACCAAGCGCTGCGCCCGGACAGCTGTGGTCCTGGTGTGGGTCGTGTCGGCCGCGGTGTCGTTTGCC",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.509_640del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1008,
          "referenceAllele": "CTGTGCGCCCTGGCCGTGGACCGCTACCTGGCTGTGACCAACCCGCTGCGTTACGGCGCACTGGTCACCAAGCGCTGCGCCCGGACAGCTGTGGTCCTGGTGTGGGTCGTGTCGGCCGCGGTGTCGTTTGCC",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.381_512del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Leu128_Ala171del",
        "hgvsWellDefined": "ENSP00000343782.3:p.Leu128_Ala171del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 709,
          "referenceAllele": "CTGTGCGCCCTGGCCGTGGACCGCTACCTGGCTGTGACCAACCCGCTGCGTTACGGCGCACTGGTCACCAAGCGCTGCGCCCGGACAGCTGTGGTCCTGGTGTGGGTCGTGTCGGCCGCGGTGTCGTTTGCC",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.381_512del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Leu128_Ala171del",
        "hgvsWellDefined": "ENSP00000480325.1:p.Leu128_Ala171del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 709,
          "referenceAllele": "CTGTGCGCCCTGGCCGTGGACCGCTACCTGGCTGTGACCAACCCGCTGCGTTACGGCGCACTGGTCACCAAGCGCTGCGCCCGGACAGCTGTGGTCCTGGTGTGGGTCGTGTCGGCCGCGGTGTCGTTTGCC",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.381_512del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Leu128_Ala171del",
        "hgvsWellDefined": "NP_000016.1:p.Leu128_Ala171del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 642,
          "referenceAllele": "CTGTGCGCCCTGGCCGTGGACCGCTACCTGGCTGTGACCAACCCGCTGCGTTACGGCGCACTGGTCACCAAGCGCTGCGCCCGGACAGCTGTGGTCCTGGTGTGGGTCGTGTCGGCCGCGGTGTCGTTTGCC",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.381_512del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Leu128_Ala171del",
        "hgvsWellDefined": "NP_000016.1:p.Leu128_Ala171del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.381_512del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.381_512del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Leu128_Ala171del"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Leu128_Ala171del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}