{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3266955048",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.921_1122del (p.Phe308ProfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965552,
          "referenceAllele": "GGCGCAGGGCTCCGGAGGCAGGCGACGGCCGCAGCGGCACAGAAGACGGCGGAAGGCGCTGCGAAAGTCCGGGCTGCGGCAGTAGATGAGCGGGTTGAAGGCAGAATTGGCATAACCTAGCCAGTTCAGGGCAAGGAAAGCCGGGCCCGGGACTAGAGAGGGGCCCCCCAGGGCGCGCAGCACGTTGGCCAGAAAGAAGGGC",
          "start": 37965350
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965351_37965552del",
        "CM000670.2:g.37965351_37965552del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37823070,
          "referenceAllele": "GGCGCAGGGCTCCGGAGGCAGGCGACGGCCGCAGCGGCACAGAAGACGGCGGAAGGCGCTGCGAAAGTCCGGGCTGCGGCAGTAGATGAGCGGGTTGAAGGCAGAATTGGCATAACCTAGCCAGTTCAGGGCAAGGAAAGCCGGGCCCGGGACTAGAGAGGGGCCCCCCAGGGCGCGCAGCACGTTGGCCAGAAAGAAGGGC",
          "start": 37822868
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37822869_37823070del",
        "CM000670.1:g.37822869_37823070del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942227,
          "referenceAllele": "GGCGCAGGGCTCCGGAGGCAGGCGACGGCCGCAGCGGCACAGAAGACGGCGGAAGGCGCTGCGAAAGTCCGGGCTGCGGCAGTAGATGAGCGGGTTGAAGGCAGAATTGGCATAACCTAGCCAGTTCAGGGCAAGGAAAGCCGGGCCCGGGACTAGAGAGGGGCCCCCCAGGGCGCGCAGCACGTTGGCCAGAAAGAAGGGC",
          "start": 37942025
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942026_37942227del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6319,
          "referenceAllele": "CTTTCTGGCCAACGTGCTGCGCGCCCTGGGGGGCCCCTCTCTAGTCCCGGGCCCGGCTTTCCTTGCCCTGAACTGGCTAGGTTATGCCAATTCTGCCTTCAACCCGCTCATCTACTGCCGCAGCCCGGACTTTCGCAGCGCCTTCCGCCGTCTTCTGTGCCGCTGCGGCCGTCGCCTGCCTCCGGAGCCCTGCGCCGCCCTT",
          "start": 6117
        }
      ],
      "hgvs": [
        "NG_011936.1:g.6118_6319del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1252,
          "referenceAllele": "CTTTCTGGCCAACGTGCTGCGCGCCCTGGGGGGCCCCTCTCTAGTCCCGGGCCCGGCTTTCCTTGCCCTGAACTGGCTAGGTTATGCCAATTCTGCCTTCAACCCGCTCATCTACTGCCGCAGCCCGGACTTTCGCAGCGCCTTCCGCCGTCTTCTGTGCCGCTGCGGCCGTCGCCTGCCTCCGGAGCCCTGCGCCGCCCTT",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.921_1122del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Phe308ProfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Phe308_Leu310delinsPro;Asn312_Leu314del;Ala316_Gly319del;Leu322_Asn338del;Ala340_Asn342del;Leu344_Cys347del;Ser349_Ser354del;Arg357_Arg358del;Leu360_Cys361del;Cys363Pro;Arg365_Cys372del;Ala375Gln;Pro377_Phe380delinsSer;Ser382del;Val384_Pro385delinsPhe;Ala387_Arg388delinsAsnGly;Ser390_Arg395delinsThrGly;Cys397_Ser404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.921_1122del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.921_1122del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Phe308ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Phe308ProfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1250,
          "referenceAllele": "CTTTCTGGCCAACGTGCTGCGCGCCCTGGGGGGCCCCTCTCTAGTCCCGGGCCCGGCTTTCCTTGCCCTGAACTGGCTAGGTTATGCCAATTCTGCCTTCAACCCGCTCATCTACTGCCGCAGCCCGGACTTTCGCAGCGCCTTCCGCCGTCTTCTGTGCCGCTGCGGCCGTCGCCTGCCTCCGGAGCCCTGCGCCGCCCTT",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.1049_1250del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 606,
          "referenceAllele": "CTTTCTGGCCAACGTGCTGCGCGCCCTGGGGGGCCCCTCTCTAGTCCCGGGCCCGGCTTTCCTTGCCCTGAACTGGCTAGGTTATGCCAATTCTGCCTTCAACCCGCTCATCTACTGCCGCAGCCCGGACTTTCGCAGCGCCTTCCGCCGTCTTCTGTGCCGCTGCGGCCGTCGCCTGCCTCCGGAGCCCTGCGCCGCCCTT",
          "start": 404
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.405_606del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Phe136ProfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Phe136_Leu138delinsPro;Asn140_Leu142del;Ala144_Gly147del;Leu150_Asn166del;Ala168_Asn170del;Leu172_Cys175del;Ser177_Ser182del;Arg185_Arg186del;Leu188_Cys189del;Cys191Pro;Arg193_Cys200del;Ala203Gln;Pro205_Phe208delinsSer;Ser210del;Val212_Pro213delinsPhe;Ala215_Arg216delinsAsnGly;Ser218_Asp229delinsThr;Lys231_Gln232delinsSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1618,
          "referenceAllele": "CTTTCTGGCCAACGTGCTGCGCGCCCTGGGGGGCCCCTCTCTAGTCCCGGGCCCGGCTTTCCTTGCCCTGAACTGGCTAGGTTATGCCAATTCTGCCTTCAACCCGCTCATCTACTGCCGCAGCCCGGACTTTCGCAGCGCCTTCCGCCGTCTTCTGTGCCGCTGCGGCCGTCGCCTGCCTCCGGAGCCCTGCGCCGCCCTT",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.921_1122del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Phe308ProfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Phe308_Leu310delinsPro;Asn312_Leu314del;Ala316_Gly319del;Leu322_Asn338del;Ala340_Asn342del;Leu344_Cys347del;Ser349_Ser354del;Arg357_Arg358del;Leu360_Cys361del;Cys363Pro;Arg365_Cys372del;Ala375Gln;Pro377_Phe380delinsSer;Ser382del;Val384_Pro385delinsPhe;Ala387_Arg388delinsAsnGly;Ser390_Arg395delinsThrGly;Cys397_Ser404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 397,
          "referenceAllele": "CTTTCTGGCCAACGTGCTGCGCGCCCTGGGGGGCCCCTCTCTAGTCCCGGGCCCGGCTTTCCTTGCCCTGAACTGGCTAGGTTATGCCAATTCTGCCTTCAACCCGCTCATCTACTGCCGCAGCCCGGACTTTCGCAGCGCCTTCCGCCGTCTTCTGTGCCGCTGCGGCCGTCGCCTGCCTCCGGAGCCCTGCGCCGCCCTT",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.196_397del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1319,
          "referenceAllele": "CTTTCTGGCCAACGTGCTGCGCGCCCTGGGGGGCCCCTCTCTAGTCCCGGGCCCGGCTTTCCTTGCCCTGAACTGGCTAGGTTATGCCAATTCTGCCTTCAACCCGCTCATCTACTGCCGCAGCCCGGACTTTCGCAGCGCCTTCCGCCGTCTTCTGTGCCGCTGCGGCCGTCGCCTGCCTCCGGAGCCCTGCGCCGCCCTT",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.921_1122del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Phe308ProfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Phe308_Leu310delinsPro;Asn312_Leu314del;Ala316_Gly319del;Leu322_Asn338del;Ala340_Asn342del;Leu344_Cys347del;Ser349_Ser354del;Arg357_Arg358del;Leu360_Cys361del;Cys363Pro;Arg365_Cys372del;Ala375Gln;Pro377_Phe380delinsSer;Ser382del;Val384_Pro385delinsPhe;Ala387_Arg388delinsAsnGly;Ser390_Arg395delinsThrGly;Cys397_Ser404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1319,
          "referenceAllele": "CTTTCTGGCCAACGTGCTGCGCGCCCTGGGGGGCCCCTCTCTAGTCCCGGGCCCGGCTTTCCTTGCCCTGAACTGGCTAGGTTATGCCAATTCTGCCTTCAACCCGCTCATCTACTGCCGCAGCCCGGACTTTCGCAGCGCCTTCCGCCGTCTTCTGTGCCGCTGCGGCCGTCGCCTGCCTCCGGAGCCCTGCGCCGCCCTT",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.921_1122del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Phe308ProfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Phe308_Leu310delinsPro;Asn312_Leu314del;Ala316_Gly319del;Leu322_Asn338del;Ala340_Asn342del;Leu344_Cys347del;Ser349_Ser354del;Arg357_Arg358del;Leu360_Cys361del;Cys363Pro;Arg365_Cys372del;Ala375Gln;Pro377_Phe380delinsSer;Ser382del;Val384_Pro385delinsPhe;Ala387_Arg388delinsAsnGly;Ser390_Arg395delinsThrGly;Cys397_Ser404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1252,
          "referenceAllele": "CTTTCTGGCCAACGTGCTGCGCGCCCTGGGGGGCCCCTCTCTAGTCCCGGGCCCGGCTTTCCTTGCCCTGAACTGGCTAGGTTATGCCAATTCTGCCTTCAACCCGCTCATCTACTGCCGCAGCCCGGACTTTCGCAGCGCCTTCCGCCGTCTTCTGTGCCGCTGCGGCCGTCGCCTGCCTCCGGAGCCCTGCGCCGCCCTT",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.921_1122del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Phe308ProfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Phe308_Leu310delinsPro;Asn312_Leu314del;Ala316_Gly319del;Leu322_Asn338del;Ala340_Asn342del;Leu344_Cys347del;Ser349_Ser354del;Arg357_Arg358del;Leu360_Cys361del;Cys363Pro;Arg365_Cys372del;Ala375Gln;Pro377_Phe380delinsSer;Ser382del;Val384_Pro385delinsPhe;Ala387_Arg388delinsAsnGly;Ser390_Arg395delinsThrGly;Cys397_Ser404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.921_1122del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.921_1122del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Phe308ProfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Phe308ProfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}