{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA260308",
  "communityStandardTitle": [
    "NC_000017.11:g.50199591_50199592del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44583[alleleid]",
        "alleleId": 44583,
        "preferredName": "NM_000088.4(COL1A1):c.299_300delAG"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35919",
        "RCV": [
          "RCV000029574",
          "RCV002470720"
        ],
        "variationId": 35919
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48276950_48276951del?assembly=hg19",
        "id": "chr17:g.48276950_48276951del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50199589_50199590del?assembly=hg38",
        "id": "chr17:g.50199589_50199590del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922154",
        "rs": 193922154
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 50199592,
          "referenceAllele": "CT",
          "start": 50199590
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50199591_50199592del",
        "CM000679.2:g.50199591_50199592del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 48276953,
          "referenceAllele": "CT",
          "start": 48276951
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48276952_48276953del",
        "CM000679.1:g.48276952_48276953del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 45631952,
          "referenceAllele": "CT",
          "start": 45631950
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45631951_45631952del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7051,
          "referenceAllele": "AG",
          "start": 7049
        }
      ],
      "hgvs": [
        "NG_007400.1:g.7050_7051del",
        "LRG_1:g.7050_7051del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 418,
          "referenceAllele": "AG",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.299_300del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS740684"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 419,
          "referenceAllele": "AG",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.299_300del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 419,
          "referenceAllele": "AG",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000474644.1:n.418_419del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316108"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 441,
          "referenceAllele": "AG",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000507689.1:c.353_354del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338917"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 426,
          "referenceAllele": "AG",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.299_300del",
        "LRG_1t1:c.299_300del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 435,
          "referenceAllele": "AG",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.299_300del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 434,
          "referenceAllele": "AG",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.299_300del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 435,
          "referenceAllele": "AG",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.299_300del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 436,
          "referenceAllele": "AG",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.299_300del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 435,
          "referenceAllele": "AG",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.299_300del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 418,
          "referenceAllele": "AG",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.299_300del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674695"
    }
  ],
  "type": "nucleotide"
}