{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2968109884",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.741dup (p.Glu248ArgfsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 37965731,
          "referenceAllele": "",
          "start": 37965731
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965731dup",
        "CM000670.2:g.37965731dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 37823249,
          "referenceAllele": "",
          "start": 37823249
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823249dup",
        "CM000670.1:g.37823249dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 37942406,
          "referenceAllele": "",
          "start": 37942406
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942406dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5938,
          "referenceAllele": "",
          "start": 5938
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5938dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.741dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Glu248ArgfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Glu248_Glu249delinsArgGlyVal;Pro251_Pro252delinsAlaGly;Pro254_Arg256delinsValAlaLeu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg277_Arg278insPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.741dup"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.741dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Glu248ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Glu248ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 869,
          "referenceAllele": "",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.869dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 225,
          "referenceAllele": "",
          "start": 225
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.225dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Glu76ArgfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Glu76_Glu77delinsArgGlyVal;Pro79_Pro80delinsAlaGly;Pro82_Arg84delinsValAlaLeu;Leu86_Ala87delinsGly;Ala89Gly;Val91Gly;Thr93_Pro101delinsAspValArgSerAlaArgArgGly;Cys103_Gly104delinsArgLeu;Arg105_Arg106insPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1237,
          "referenceAllele": "",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.741dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Glu248ArgfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Glu248_Glu249delinsArgGlyVal;Pro251_Pro252delinsAlaGly;Pro254_Arg256delinsValAlaLeu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg277_Arg278insPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 16,
          "referenceAllele": "",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.16dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 938,
          "referenceAllele": "",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.741dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Glu248ArgfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Glu248_Glu249delinsArgGlyVal;Pro251_Pro252delinsAlaGly;Pro254_Arg256delinsValAlaLeu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg277_Arg278insPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 938,
          "referenceAllele": "",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.741dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Glu248ArgfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Glu248_Glu249delinsArgGlyVal;Pro251_Pro252delinsAlaGly;Pro254_Arg256delinsValAlaLeu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg277_Arg278insPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.741dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Glu248ArgfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Glu248_Glu249delinsArgGlyVal;Pro251_Pro252delinsAlaGly;Pro254_Arg256delinsValAlaLeu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg277_Arg278insPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.741dup"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.741dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Glu248ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Glu248ArgfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}