{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA291225439",
  "communityStandardTitle": [
    "NM_000212.3(ITGB3):c.1125+3_1125+6del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983918[alleleid]",
        "alleleId": 983918,
        "preferredName": "NM_000212.3(ITGB3):c.1125+3_1125+6del"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996205",
        "RCV": [
          "RCV001290499"
        ],
        "variationId": 996205
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/76562369",
        "rs": 76562369
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 47290280,
          "referenceAllele": "AAGT",
          "start": 47290276
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47290277_47290280del",
        "CM000679.2:g.47290277_47290280del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 45367646,
          "referenceAllele": "AAGT",
          "start": 45367642
        }
      ],
      "hgvs": [
        "NC_000017.10:g.45367643_45367646del",
        "CM000679.1:g.45367643_45367646del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 42722645,
          "referenceAllele": "AAGT",
          "start": 42722641
        }
      ],
      "hgvs": [
        "NC_000017.9:g.42722642_42722645del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 41439,
          "referenceAllele": "AAGT",
          "start": 41435
        }
      ],
      "hgvs": [
        "NG_008332.2:g.41436_41439del",
        "LRG_481:g.41436_41439del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001033"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1160,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 1160,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000696963.1:c.1125+3_1125+6del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513002.1:n.1125+3_1125+6del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908395"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1160,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 1160,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.7:c.1125+3_1125+6del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.2:n.1125+3_1125+6del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.1125+3_1125+6del"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.1125+3_1125+6del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:n.1125+3_1125+6del"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:n.1125+3_1125+6del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1141,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 1141,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.5:c.1125+3_1125+6del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.1:n.1125+3_1125+6del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1090,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 1090,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "hgvs": [
        "ENST00000560629.1:c.1090+3_1090+6del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375491"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1134,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 1134,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000571680.1:c.1125+3_1125+6del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461626.1:n.1125+3_1125+6del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382603"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1145,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 1145,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.2:c.1125+3_1125+6del",
        "LRG_481t1:c.1125+3_1125+6del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:n.1125+3_1125+6del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006276"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1160,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "AAGT",
          "start": 1160,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.3:c.1125+3_1125+6del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:n.1125+3_1125+6del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674746",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.1125+3_1125+6del"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.1125+3_1125+6del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:n.1125+3_1125+6del"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:n.1125+3_1125+6del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}