{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2686921909",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.561_564del (p.Gln187HisfsTer?)"
  ],
  "externalRecords": {
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-37965905-AGCGC-A?dataset=gnomad_r4",
        "id": "8-37965905-AGCGC-A",
        "variant": "8:37965905 AGCGC / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965909,
          "referenceAllele": "GCGC",
          "start": 37965905
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965906_37965909del",
        "CM000670.2:g.37965906_37965909del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37823427,
          "referenceAllele": "GCGC",
          "start": 37823423
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823424_37823427del",
        "CM000670.1:g.37823424_37823427del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942584,
          "referenceAllele": "GCGC",
          "start": 37942580
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942581_37942584del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5761,
          "referenceAllele": "GCGC",
          "start": 5757
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5758_5761del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 694,
          "referenceAllele": "GCGC",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.561_564del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Gln187HisfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Gln187_Cys189del;Ser191_Asn192delinsAlaThr;Arg194_Cys196delinsThrArgAla;Phe198_Ala199delinsValPro;Asn201_Val211delinsProProThrCysProThrCysCysCysProProPro;Phe213_Pro216delinsProSerThrPhe;Leu218Phe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.561_564del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.561_564del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Gln187HisfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Gln187HisfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 692,
          "referenceAllele": "GCGC",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.689_692del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 48,
          "referenceAllele": "GCGC",
          "start": 44
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.45_48del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Gln15HisfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Gln15_Cys17del;Ser19_Asn20delinsAlaThr;Arg22_Cys24delinsThrArgAla;Phe26_Ala27delinsValPro;Asn29_Val39delinsProProThrCysProThrCysCysCysProProPro;Phe41_Pro44delinsProSerThrPhe;Leu46Phe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1060,
          "referenceAllele": "GCGC",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.561_564del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Gln187HisfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Gln187_Cys189del;Ser191_Asn192delinsAlaThr;Arg194_Cys196delinsThrArgAla;Phe198_Ala199delinsValPro;Asn201_Val211delinsProProThrCysProThrCysCysCysProProPro;Phe213_Pro216delinsProSerThrPhe;Leu218Phe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 761,
          "referenceAllele": "GCGC",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.561_564del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Gln187HisfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Gln187_Cys189del;Ser191_Asn192delinsAlaThr;Arg194_Cys196delinsThrArgAla;Phe198_Ala199delinsValPro;Asn201_Val211delinsProProThrCysProThrCysCysCysProProPro;Phe213_Pro216delinsProSerThrPhe;Leu218Phe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 761,
          "referenceAllele": "GCGC",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.561_564del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Gln187HisfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Gln187_Cys189del;Ser191_Asn192delinsAlaThr;Arg194_Cys196delinsThrArgAla;Phe198_Ala199delinsValPro;Asn201_Val211delinsProProThrCysProThrCysCysCysProProPro;Phe213_Pro216delinsProSerThrPhe;Leu218Phe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 694,
          "referenceAllele": "GCGC",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.561_564del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Gln187HisfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Gln187_Cys189del;Ser191_Asn192delinsAlaThr;Arg194_Cys196delinsThrArgAla;Phe198_Ala199delinsValPro;Asn201_Val211delinsProProThrCysProThrCysCysCysProProPro;Phe213_Pro216delinsProSerThrPhe;Leu218Phe]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.561_564del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.561_564del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Gln187HisfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Gln187HisfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}