{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2686921900",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.757dup (p.Ala253GlyfsTer?)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2486627260",
        "rs": 2486627260
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-37965712-G-GC?dataset=gnomad_r4",
        "id": "8-37965712-G-GC",
        "variant": "8:37965712 G / GC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 37965714,
          "referenceAllele": "",
          "start": 37965714
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965714dup",
        "CM000670.2:g.37965714dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 37823232,
          "referenceAllele": "",
          "start": 37823232
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823232dup",
        "CM000670.1:g.37823232dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 37942389,
          "referenceAllele": "",
          "start": 37942389
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942389dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5954,
          "referenceAllele": "",
          "start": 5954
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5954dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 887,
          "referenceAllele": "",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.757dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Ala253GlyfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Pro252_Ala253insGly;Pro254_Arg256delinsValAlaLeu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg278_Pro279delinsProAla;Leu282delinsAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.757dup"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.757dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Ala253GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Ala253GlyfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 885,
          "referenceAllele": "",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.885dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 241,
          "referenceAllele": "",
          "start": 241
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.241dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Ala81GlyfsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Pro80_Ala81insGly;Pro82_Arg84delinsValAlaLeu;Leu86_Ala87delinsGly;Ala89Gly;Val91Gly;Thr93_Pro101delinsAspValArgSerAlaArgArgGly;Cys103_Gly104delinsArgLeu;Arg106_Pro107delinsProAla;Leu110delinsAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1253,
          "referenceAllele": "",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.757dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Ala253GlyfsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Pro252_Ala253insGly;Pro254_Arg256delinsValAlaLeu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg278_Pro279delinsProAla;Leu282delinsAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32,
          "referenceAllele": "",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.32dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "referenceAllele": "",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.757dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Ala253GlyfsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Pro252_Ala253insGly;Pro254_Arg256delinsValAlaLeu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg278_Pro279delinsProAla;Leu282delinsAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 954,
          "referenceAllele": "",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.757dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Ala253GlyfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Pro252_Ala253insGly;Pro254_Arg256delinsValAlaLeu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg278_Pro279delinsProAla;Leu282delinsAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 887,
          "referenceAllele": "",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.757dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Ala253GlyfsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Pro252_Ala253insGly;Pro254_Arg256delinsValAlaLeu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg278_Pro279delinsProAla;Leu282delinsAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.757dup"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.757dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Ala253GlyfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Ala253GlyfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}