{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2968109854",
  "communityStandardTitle": [
    "NM_000025.3(ADRB3):c.767_768del (p.Arg256LeufsTer?)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37965706,
          "referenceAllele": "CG",
          "start": 37965704
        }
      ],
      "hgvs": [
        "NC_000008.11:g.37965705_37965706del",
        "CM000670.2:g.37965705_37965706del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37823224,
          "referenceAllele": "CG",
          "start": 37823222
        }
      ],
      "hgvs": [
        "NC_000008.10:g.37823223_37823224del",
        "CM000670.1:g.37823223_37823224del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 37942381,
          "referenceAllele": "CG",
          "start": 37942379
        }
      ],
      "hgvs": [
        "NC_000008.9:g.37942380_37942381del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5965,
          "referenceAllele": "CG",
          "start": 5963
        }
      ],
      "hgvs": [
        "NG_011936.1:g.5964_5965del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002062"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 898,
          "referenceAllele": "CG",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.5:c.767_768del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Arg256LeufsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Arg256Leu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg278_Pro279delinsProAla;Leu282_Leu283delinsAlaPro;Leu285_Arg286delinsAlaSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748270",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.767_768del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.767_768del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Arg256LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Arg256LeufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 896,
          "referenceAllele": "CG",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.2:n.895_896del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 252,
          "referenceAllele": "CG",
          "start": 250
        }
      ],
      "hgvs": [
        "ENST00000647937.1:c.251_252del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497740.1:p.Arg84LeufsTer?",
        "hgvsWellDefined": "ENSP00000497740.1:p.[Arg84Leu;Leu86_Ala87delinsGly;Ala89Gly;Val91Gly;Thr93_Pro101delinsAspValArgSerAlaArgArgGly;Cys103_Gly104delinsArgLeu;Arg106_Pro107delinsProAla;Leu110_Leu111delinsAlaPro;Leu113_Arg114delinsAlaSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769701"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1264,
          "referenceAllele": "CG",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000345060.4:c.767_768del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343782.3:p.Arg256LeufsTer?",
        "hgvsWellDefined": "ENSP00000343782.3:p.[Arg256Leu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg278_Pro279delinsProAla;Leu282_Leu283delinsAlaPro;Leu285_Arg286delinsAlaSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262124"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 43,
          "referenceAllele": "CG",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000520341.1:n.42_43del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347406"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 965,
          "referenceAllele": "CG",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "ENST00000614635.1:c.767_768del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480325.1:p.Arg256LeufsTer?",
        "hgvsWellDefined": "ENSP00000480325.1:p.[Arg256Leu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg278_Pro279delinsProAla;Leu282_Leu283delinsAlaPro;Leu285_Arg286delinsAlaSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402283"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 965,
          "referenceAllele": "CG",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.2:c.767_768del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Arg256LeufsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Arg256Leu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg278_Pro279delinsProAla;Leu282_Leu283delinsAlaPro;Leu285_Arg286delinsAlaSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006090"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 898,
          "referenceAllele": "CG",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000288",
      "geneNCBI_id": 155,
      "geneSymbol": "ADRB3",
      "hgvs": [
        "NM_000025.3:c.767_768del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000016.1:p.Arg256LeufsTer?",
        "hgvsWellDefined": "NP_000016.1:p.[Arg256Leu;Leu258_Ala259delinsGly;Ala261Gly;Val263Gly;Thr265_Pro273delinsAspValArgSerAlaArgArgGly;Cys275_Gly276delinsArgLeu;Arg278_Pro279delinsProAla;Leu282_Leu283delinsAlaPro;Leu285_Arg286delinsAlaSerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662288",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345060.5:c.767_768del"
          },
          "RefSeq": {
            "hgvs": "NM_000025.3:c.767_768del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343782.3:p.Arg256LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000016.1:p.Arg256LeufsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}