{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA281078",
  "communityStandardTitle": [
    "NC_000002.12:g.189062914_189062920del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32235[alleleid]",
        "alleleId": 32235,
        "preferredName": "NM_000393.5(COL5A2):c.1924-2_1928del"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17196",
        "RCV": [
          "RCV000018736"
        ],
        "variationId": 17196
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189927640_189927646del?assembly=hg19",
        "id": "chr2:g.189927640_189927646del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189062914_189062920del?assembly=hg38",
        "id": "chr2:g.189062914_189062920del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205103",
        "rs": 786205103
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 189062920,
          "referenceAllele": "GCTCCCT",
          "start": 189062913
        }
      ],
      "hgvs": [
        "NC_000002.12:g.189062914_189062920del",
        "CM000664.2:g.189062914_189062920del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 189927646,
          "referenceAllele": "GCTCCCT",
          "start": 189927639
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189927640_189927646del",
        "CM000664.1:g.189927640_189927646del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 189635891,
          "referenceAllele": "GCTCCCT",
          "start": 189635884
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189635885_189635891del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 121966,
          "referenceAllele": "AGGGAGC",
          "start": 121959
        }
      ],
      "hgvs": [
        "NG_011799.1:g.121960_121966del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 121966,
          "referenceAllele": "AGGGAGC",
          "start": 121959
        }
      ],
      "hgvs": [
        "NG_011799.2:g.121960_121966del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616154"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 167388,
          "referenceAllele": "AGGGAGC",
          "start": 167381
        }
      ],
      "hgvs": [
        "NG_011799.3:g.167382_167388del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706104"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2085,
          "referenceAllele": "AGGGAGC",
          "start": 2080,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000374866.9:c.1924-2_1928del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS751513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2203,
          "referenceAllele": "AGGGAGC",
          "start": 2198,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000374866.7:c.1924-2_1928del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270455"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 34,
          "referenceAllele": "AGGGAGC",
          "start": 29,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000470524.2:n.30-2_34del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312937"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1672,
          "referenceAllele": "AGGGAGC",
          "start": 1667,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000618828.1:c.763-2_767del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS404102"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2203,
          "referenceAllele": "AGGGAGC",
          "start": 2198,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.3:c.1924-2_1928del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006454"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1998,
          "referenceAllele": "AGGGAGC",
          "start": 1993,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "XM_011510573.1:c.1786-2_1790del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS077836"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2203,
          "referenceAllele": "AGGGAGC",
          "start": 2198,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.4:c.1924-2_1928del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS510788"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1985,
          "referenceAllele": "AGGGAGC",
          "start": 1980,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "XM_011510573.3:c.1786-2_1790del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS541779"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2085,
          "referenceAllele": "AGGGAGC",
          "start": 2080,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.5:c.1924-2_1928del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS662424"
    }
  ],
  "type": "nucleotide"
}