{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414132378",
  "communityStandardTitle": [
    "NM_033380.3(COL4A5):c.4706+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1065146[alleleid]",
        "alleleId": 1065146,
        "preferredName": "NM_033380.3(COL4A5):c.4706+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1073265",
        "RCV": [
          "RCV001386223",
          "RCV001391159"
        ],
        "variationId": 1073265
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.107936157T>C?assembly=hg19",
        "id": "chrX:g.107936157T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.108692927T>C?assembly=hg38",
        "id": "chrX:g.108692927T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2147998807",
        "rs": 2147998807
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 108692927,
          "referenceAllele": "T",
          "start": 108692926
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108692927T>C",
        "CM000685.2:g.108692927T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 107936157,
          "referenceAllele": "T",
          "start": 107936156
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107936157T>C",
        "CM000685.1:g.107936157T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 107822813,
          "referenceAllele": "T",
          "start": 107822812
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107822813T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258004,
          "referenceAllele": "T",
          "start": 258003
        }
      ],
      "hgvs": [
        "NG_011977.1:g.258004T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002082"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258004,
          "referenceAllele": "T",
          "start": 258003
        }
      ],
      "hgvs": [
        "NG_011977.2:g.258004T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4994,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4994,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.11:c.4706+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.7:n.4706+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.4706+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.4706+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:n.4706+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:n.4706+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4890,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4890,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.7:c.4688+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:n.4688+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1200,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1200,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000510690.2:n.1200+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758216"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4950,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4950,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.10:c.4706+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.6:n.4706+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4932,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4932,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.6:c.4688+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:n.4688+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 104,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000504541.1:c.104+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424845.1:n.104+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "endIntronDirection": "-",
          "endIntronOffset": 3369,
          "referenceAllele": "T",
          "start": 324,
          "startIntronDirection": "-",
          "startIntronOffset": 3370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000515658.1:c.325-3370T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4970,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4970,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.4:c.4688+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:n.4688+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4988,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4988,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.2:c.4706+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:n.4706+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5014,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 5014,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262070.2:c.4697+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262127.1:n.4697+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4886,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4886,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_006724616.2:c.4706+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724679.1:n.4706+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075622"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4644,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4644,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.1:c.4382+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.1:n.4382+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097892"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2391,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2391,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530851.1:c.2279+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529153.1:n.2279+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097894"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4736,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4736,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.2:c.4721+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.2:n.4721+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4727,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4727,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029259.2:c.4712+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884748.1:n.4712+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578835"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4718,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4718,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029260.1:c.4703+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884749.1:n.4703+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3820,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3820,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029263.2:c.3041+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884752.1:n.3041+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4976,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4976,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.5:c.4688+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:n.4688+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4994,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4994,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.4706+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:n.4706+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.4706+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.4706+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:n.4706+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:n.4706+2T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}