{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2739290533",
  "communityStandardTitle": [
    "NM_033380.3(COL4A5):c.1365_1373del (p.Pro456_Pro458del)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 108591594,
          "referenceAllele": "TCCAGGCCC",
          "start": 108591585
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108591586_108591594del",
        "CM000685.2:g.108591586_108591594del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 107834824,
          "referenceAllele": "TCCAGGCCC",
          "start": 107834815
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107834816_107834824del",
        "CM000685.1:g.107834816_107834824del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 107721480,
          "referenceAllele": "TCCAGGCCC",
          "start": 107721471
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107721472_107721480del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 156671,
          "referenceAllele": "TCCAGGCCC",
          "start": 156662
        }
      ],
      "hgvs": [
        "NG_011977.1:g.156663_156671del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002082"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 156671,
          "referenceAllele": "TCCAGGCCC",
          "start": 156662
        }
      ],
      "hgvs": [
        "NG_011977.2:g.156663_156671del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1661,
          "referenceAllele": "TCCAGGCCC",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.11:c.1365_1373del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.7:p.Pro456_Pro458del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.1365_1373del"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.1365_1373del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Pro456_Pro458del"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Pro456_Pro458del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1575,
          "referenceAllele": "TCCAGGCCC",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.7:c.1365_1373del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Pro456_Pro458del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749508"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1617,
          "referenceAllele": "TCCAGGCCC",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.10:c.1365_1373del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.6:p.Pro456_Pro458del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258897"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1617,
          "referenceAllele": "TCCAGGCCC",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.6:c.1365_1373del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Pro456_Pro458del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265564"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 829,
          "referenceAllele": "TCCAGGCCC",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000483338.1:n.821_829del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322830"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1655,
          "referenceAllele": "TCCAGGCCC",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.4:c.1365_1373del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Pro456_Pro458del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006549"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1655,
          "referenceAllele": "TCCAGGCCC",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.2:c.1365_1373del"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Pro456_Pro458del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039706"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1690,
          "referenceAllele": "TCCAGGCCC",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262070.2:c.1365_1373del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262127.1:p.Pro456_Pro458del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063311"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1690,
          "referenceAllele": "TCCAGGCCC",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262072.3:c.1365_1373del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262129.1:p.Pro456_Pro458del",
        "hgvsWellDefined": "XP_005262129.1:p.Pro458_Gly460del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063312"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1553,
          "referenceAllele": "TCCAGGCCC",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_006724616.2:c.1365_1373del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724679.1:p.Pro456_Pro458del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075622"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1311,
          "referenceAllele": "TCCAGGCCC",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.1:c.1041_1049del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.1:p.Pro348_Pro350del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097892"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1690,
          "referenceAllele": "TCCAGGCCC",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530850.1:c.1365_1373del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529152.1:p.Pro456_Pro458del",
        "hgvsWellDefined": "XP_011529152.1:p.Pro458_Gly460del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097893"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1403,
          "referenceAllele": "TCCAGGCCC",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.2:c.1380_1388del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.2:p.Pro461_Pro463del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550135"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1403,
          "referenceAllele": "TCCAGGCCC",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029259.2:c.1380_1388del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884748.1:p.Pro461_Pro463del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578835"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1403,
          "referenceAllele": "TCCAGGCCC",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029260.1:c.1380_1388del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884749.1:p.Pro461_Pro463del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578836"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1403,
          "referenceAllele": "TCCAGGCCC",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029261.1:c.1380_1388del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884750.1:p.Pro461_Pro463del",
        "hgvsWellDefined": "XP_016884750.1:p.Pro463_Gly465del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578837"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1403,
          "referenceAllele": "TCCAGGCCC",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029262.2:c.1380_1388del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884751.1:p.Pro461_Pro463del",
        "hgvsWellDefined": "XP_016884751.1:p.Pro463_Gly465del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 443,
          "referenceAllele": "TCCAGGCCC",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029263.2:c.-345_-337del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884752.1:n.-345_-337del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578839"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1661,
          "referenceAllele": "TCCAGGCCC",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.5:c.1365_1373del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Pro456_Pro458del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1661,
          "referenceAllele": "TCCAGGCCC",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.1365_1373del"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Pro456_Pro458del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.1365_1373del"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.1365_1373del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Pro456_Pro458del"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Pro456_Pro458del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}