{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1893349290",
  "communityStandardTitle": [
    "NM_001081.4(CUBN):c.9454+6135G>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7893395",
        "rs": 7893395
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 16863501,
          "referenceAllele": "C",
          "start": 16863500
        }
      ],
      "hgvs": [
        "NC_000010.11:g.16863501C>A",
        "CM000672.2:g.16863501C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 16905500,
          "referenceAllele": "C",
          "start": 16905499
        }
      ],
      "hgvs": [
        "NC_000010.10:g.16905500C>A",
        "CM000672.1:g.16905500C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "A",
          "end": 16945506,
          "referenceAllele": "C",
          "start": 16945505
        }
      ],
      "hgvs": [
        "NC_000010.9:g.16945506C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271317,
          "referenceAllele": "G",
          "start": 271316
        }
      ],
      "hgvs": [
        "NG_008967.1:g.271317G>T",
        "LRG_540:g.271317G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001338"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9500,
          "endIntronDirection": "+",
          "endIntronOffset": 6135,
          "referenceAllele": "G",
          "start": 9500,
          "startIntronDirection": "+",
          "startIntronOffset": 6134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "ENST00000377833.10:c.9454+6135G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367064.4:n.9454+6135G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751981",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377833.10:c.9454+6135G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001081.4:c.9454+6135G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367064.4:n.9454+6135G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001072.2:n.9454+6135G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 49,
          "endIntronDirection": "+",
          "endIntronOffset": 3306,
          "referenceAllele": "G",
          "start": 49,
          "startIntronDirection": "+",
          "startIntronOffset": 3305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "ENST00000649135.1:n.49+3306G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9520,
          "endIntronDirection": "+",
          "endIntronOffset": 6135,
          "referenceAllele": "G",
          "start": 9520,
          "startIntronDirection": "+",
          "startIntronOffset": 6134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "ENST00000377833.8:c.9454+6135G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367064.4:n.9454+6135G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9506,
          "endIntronDirection": "+",
          "endIntronOffset": 6135,
          "referenceAllele": "G",
          "start": 9506,
          "startIntronDirection": "+",
          "startIntronOffset": 6134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "NM_001081.3:c.9454+6135G>T",
        "LRG_540t1:c.9454+6135G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001072.2:n.9454+6135G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5666,
          "endIntronDirection": "+",
          "endIntronOffset": 6135,
          "referenceAllele": "G",
          "start": 5666,
          "startIntronDirection": "+",
          "startIntronOffset": 6134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "XM_011519709.1:c.5440+6135G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518011.1:n.5440+6135G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5504,
          "endIntronDirection": "+",
          "endIntronOffset": 6135,
          "referenceAllele": "G",
          "start": 5504,
          "startIntronDirection": "+",
          "startIntronOffset": 6134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "XM_011519710.1:c.5416+6135G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518012.1:n.5416+6135G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6167,
          "endIntronDirection": "+",
          "endIntronOffset": 6135,
          "referenceAllele": "G",
          "start": 6167,
          "startIntronDirection": "+",
          "startIntronOffset": 6134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "XM_011519711.1:c.5296+6135G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518013.1:n.5296+6135G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086883"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5869,
          "endIntronDirection": "+",
          "endIntronOffset": 6135,
          "referenceAllele": "G",
          "start": 5869,
          "startIntronDirection": "+",
          "startIntronOffset": 6134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "XM_011519709.2:c.5440+6135G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518011.1:n.5440+6135G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5512,
          "endIntronDirection": "+",
          "endIntronOffset": 6135,
          "referenceAllele": "G",
          "start": 5512,
          "startIntronDirection": "+",
          "startIntronOffset": 6134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "XM_011519710.2:c.5416+6135G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518012.1:n.5416+6135G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6195,
          "endIntronDirection": "+",
          "endIntronOffset": 6135,
          "referenceAllele": "G",
          "start": 6195,
          "startIntronDirection": "+",
          "startIntronOffset": 6134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "XM_011519711.3:c.5296+6135G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518013.1:n.5296+6135G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9500,
          "endIntronDirection": "+",
          "endIntronOffset": 6135,
          "referenceAllele": "G",
          "start": 9500,
          "startIntronDirection": "+",
          "startIntronOffset": 6134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002548",
      "geneNCBI_id": 8029,
      "geneSymbol": "CUBN",
      "hgvs": [
        "NM_001081.4:c.9454+6135G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001072.2:n.9454+6135G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676312",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377833.10:c.9454+6135G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001081.4:c.9454+6135G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367064.4:n.9454+6135G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001072.2:n.9454+6135G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}