{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2398247914",
  "communityStandardTitle": [
    "NM_015330.6(SPECC1L):c.3088-4992G>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/5751862",
        "rs": 5751862
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 24406596,
          "referenceAllele": "G",
          "start": 24406595
        }
      ],
      "hgvs": [
        "NC_000022.11:g.24406596G>C",
        "CM000684.2:g.24406596G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 24802564,
          "referenceAllele": "G",
          "start": 24802563
        }
      ],
      "hgvs": [
        "NC_000022.10:g.24802564G>C",
        "CM000684.1:g.24802564G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 23132564,
          "referenceAllele": "G",
          "start": 23132563
        }
      ],
      "hgvs": [
        "NC_000022.9:g.23132564G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 140775,
          "referenceAllele": "G",
          "start": 140774
        }
      ],
      "hgvs": [
        "NG_031915.2:g.140775G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005026"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3381,
          "endIntronDirection": "-",
          "endIntronOffset": 4991,
          "referenceAllele": "G",
          "start": 3381,
          "startIntronDirection": "-",
          "startIntronOffset": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "ENST00000314328.14:c.3088-4992G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325785.8:n.3088-4992G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745917",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314328.14:c.3088-4992G>C"
          },
          "RefSeq": {
            "hgvs": "NM_015330.6:c.3088-4992G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325785.8:n.3088-4992G>C"
          },
          "RefSeq": {
            "hgvs": "NP_056145.5:n.3088-4992G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3432,
          "endIntronDirection": "-",
          "endIntronOffset": 4991,
          "referenceAllele": "G",
          "start": 3432,
          "startIntronDirection": "-",
          "startIntronOffset": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "ENST00000651059.1:c.3145-4992G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499052.1:n.3145-4992G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771445"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3372,
          "endIntronDirection": "-",
          "endIntronOffset": 4991,
          "referenceAllele": "G",
          "start": 3372,
          "startIntronDirection": "-",
          "startIntronOffset": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "ENST00000314328.13:c.3088-4992G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325785.8:n.3088-4992G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3436,
          "endIntronDirection": "-",
          "endIntronOffset": 4991,
          "referenceAllele": "G",
          "start": 3436,
          "startIntronDirection": "-",
          "startIntronOffset": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049185",
      "geneNCBI_id": 101730217,
      "geneSymbol": "SPECC1L-ADORA2A",
      "hgvs": [
        "ENST00000358654.2:c.*474-4992G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351480.2:n.*474-4992G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3291,
          "endIntronDirection": "-",
          "endIntronOffset": 4991,
          "referenceAllele": "G",
          "start": 3291,
          "startIntronDirection": "-",
          "startIntronOffset": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "ENST00000437398.5:c.3088-4992G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393363.1:n.3088-4992G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3225,
          "endIntronDirection": "-",
          "endIntronOffset": 6051,
          "referenceAllele": "G",
          "start": 3225,
          "startIntronDirection": "-",
          "startIntronOffset": 6052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "ENST00000541492.1:c.3088-6052G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439633.1:n.3088-6052G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362952"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3291,
          "endIntronDirection": "-",
          "endIntronOffset": 4991,
          "referenceAllele": "G",
          "start": 3291,
          "startIntronDirection": "-",
          "startIntronOffset": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "NM_001145468.3:c.3088-4992G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138940.3:n.3088-4992G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3291,
          "endIntronDirection": "-",
          "endIntronOffset": 6051,
          "referenceAllele": "G",
          "start": 3291,
          "startIntronDirection": "-",
          "startIntronOffset": 6052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "NM_001254732.2:c.3088-6052G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001241661.2:n.3088-6052G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "endIntronDirection": "-",
          "endIntronOffset": 4991,
          "referenceAllele": "G",
          "start": 830,
          "startIntronDirection": "-",
          "startIntronOffset": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "NM_001254733.1:c.286-4992G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001241662.1:n.286-4992G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3395,
          "endIntronDirection": "-",
          "endIntronOffset": 4991,
          "referenceAllele": "G",
          "start": 3395,
          "startIntronDirection": "-",
          "startIntronOffset": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "NM_015330.4:c.3088-4992G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056145.4:n.3088-4992G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3517,
          "endIntronDirection": "-",
          "endIntronOffset": 4991,
          "referenceAllele": "G",
          "start": 3517,
          "startIntronDirection": "-",
          "startIntronOffset": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN049185",
      "geneNCBI_id": 101730217,
      "geneSymbol": "SPECC1L-ADORA2A",
      "hgvs": [
        "NR_103546.1:n.3518-4992G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1890,
          "referenceAllele": "C",
          "start": 1889
        }
      ],
      "hgvs": [
        "XR_938082.1:n.1890C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132795"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3381,
          "endIntronDirection": "-",
          "endIntronOffset": 4991,
          "referenceAllele": "G",
          "start": 3381,
          "startIntronDirection": "-",
          "startIntronOffset": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "NM_015330.5:c.3088-4992G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056145.4:n.3088-4992G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3277,
          "endIntronDirection": "-",
          "endIntronOffset": 4991,
          "referenceAllele": "G",
          "start": 3277,
          "startIntronDirection": "-",
          "startIntronOffset": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "NM_001145468.4:c.3088-4992G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138940.4:n.3088-4992G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3277,
          "endIntronDirection": "-",
          "endIntronOffset": 6051,
          "referenceAllele": "G",
          "start": 3277,
          "startIntronDirection": "-",
          "startIntronOffset": 6052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "NM_001254732.3:c.3088-6052G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001241661.3:n.3088-6052G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714678"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "endIntronDirection": "-",
          "endIntronOffset": 4991,
          "referenceAllele": "G",
          "start": 830,
          "startIntronDirection": "-",
          "startIntronOffset": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "NM_001254733.2:c.286-4992G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001241662.2:n.286-4992G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3381,
          "endIntronDirection": "-",
          "endIntronOffset": 4991,
          "referenceAllele": "G",
          "start": 3381,
          "startIntronDirection": "-",
          "startIntronOffset": 4992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029022",
      "geneNCBI_id": 23384,
      "geneSymbol": "SPECC1L",
      "hgvs": [
        "NM_015330.6:c.3088-4992G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_056145.5:n.3088-4992G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728065",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314328.14:c.3088-4992G>C"
          },
          "RefSeq": {
            "hgvs": "NM_015330.6:c.3088-4992G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325785.8:n.3088-4992G>C"
          },
          "RefSeq": {
            "hgvs": "NP_056145.5:n.3088-4992G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}