{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580701032",
  "communityStandardTitle": [
    "NM_033380.3(COL4A5):c.2965G= (p.Asp989=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104886206",
        "rs": 104886206
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 108624283,
          "referenceAllele": "G",
          "start": 108624282
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108624283G=",
        "CM000685.2:g.108624283G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 107867513,
          "referenceAllele": "G",
          "start": 107867512
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107867513G=",
        "CM000685.1:g.107867513G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 107754169,
          "referenceAllele": "G",
          "start": 107754168
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107754169G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189360,
          "referenceAllele": "G",
          "start": 189359
        }
      ],
      "hgvs": [
        "NG_011977.1:g.189360G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 189360,
          "referenceAllele": "G",
          "start": 189359
        }
      ],
      "hgvs": [
        "NG_011977.2:g.189360G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3253,
          "referenceAllele": "G",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.11:c.2965G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.7:p.Asp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.2965G="
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.2965G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Asp989="
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Asp989="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3167,
          "referenceAllele": "G",
          "start": 3166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.7:c.2965G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Asp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3209,
          "referenceAllele": "G",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.10:c.2965G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.6:p.Asp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3209,
          "referenceAllele": "G",
          "start": 3208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.6:c.2965G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Asp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2421,
          "referenceAllele": "G",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000483338.1:n.2421G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000505728.1:c.198G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337438"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194296",
      "coordinates": [
        {
          "allele": "G",
          "end": 3247,
          "referenceAllele": "G",
          "start": 3246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.4:c.2965G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Asp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3247,
          "referenceAllele": "G",
          "start": 3246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.2:c.2965G="
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Asp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3282,
          "referenceAllele": "G",
          "start": 3281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262070.2:c.2965G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262127.1:p.Asp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3282,
          "referenceAllele": "G",
          "start": 3281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262072.3:c.2965G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262129.1:p.Asp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3145,
          "referenceAllele": "G",
          "start": 3144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_006724616.2:c.2965G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724679.1:p.Asp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2903,
          "referenceAllele": "G",
          "start": 2902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.1:c.2641G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.1:p.Asp881="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3282,
          "referenceAllele": "G",
          "start": 3281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530850.1:c.2965G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529152.1:p.Asp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "G",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530851.1:c.538G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529153.1:p.Asp180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2995,
          "referenceAllele": "G",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.2:c.2980G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.2:p.Asp994="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2995,
          "referenceAllele": "G",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029259.2:c.2980G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884748.1:p.Asp994="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578835"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2995,
          "referenceAllele": "G",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029260.1:c.2980G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884749.1:p.Asp994="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2995,
          "referenceAllele": "G",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029261.1:c.2980G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884750.1:p.Asp994="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578837"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2995,
          "referenceAllele": "G",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029262.2:c.2980G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884751.1:p.Asp994="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029263.2:c.1300G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884752.1:p.Asp434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194296",
      "coordinates": [
        {
          "allele": "G",
          "end": 3253,
          "referenceAllele": "G",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.5:c.2965G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Asp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3253,
          "referenceAllele": "G",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.2965G="
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Asp989="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.2965G="
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.2965G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Asp989="
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Asp989="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}