{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA258776",
  "communityStandardTitle": [
    "NM_033380.3(COL4A5):c.2846del (p.Pro949GlnfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=578197[alleleid]",
        "alleleId": 578197,
        "preferredName": "NM_033380.3(COL4A5):c.2846del (p.Pro949fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/587297",
        "RCV": [
          "RCV001387177"
        ],
        "variationId": 587297
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.107865984del?assembly=hg19",
        "id": "chrX:g.107865984del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.108622754del?assembly=hg38",
        "id": "chrX:g.108622754del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104886197",
        "rs": 104886197
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 108622754,
          "referenceAllele": "C",
          "start": 108622753
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108622754del",
        "CM000685.2:g.108622754del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 107865984,
          "referenceAllele": "C",
          "start": 107865983
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107865984del",
        "CM000685.1:g.107865984del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 107752640,
          "referenceAllele": "C",
          "start": 107752639
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107752640del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 187831,
          "referenceAllele": "C",
          "start": 187830
        }
      ],
      "hgvs": [
        "NG_011977.1:g.187831del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002082"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 187831,
          "referenceAllele": "C",
          "start": 187830
        }
      ],
      "hgvs": [
        "NG_011977.2:g.187831del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3134,
          "referenceAllele": "C",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.11:c.2846del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.7:p.Pro949GlnfsTer?",
        "hgvsWellDefined": "ENSP00000331902.7:p.[Pro949_Ser962delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly964_Lys966delinsGluArgArg;Glu968_Ser978delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.2846del"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.2846del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Pro949GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Pro949GlnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3048,
          "referenceAllele": "C",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.7:c.2846del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Pro949GlnfsTer?",
        "hgvsWellDefined": "ENSP00000354505.2:p.[Pro949_Ser962delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly964_Lys966delinsGluArgArg;Glu968_Ser978delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749508"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3090,
          "referenceAllele": "C",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.10:c.2846del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.6:p.Pro949GlnfsTer?",
        "hgvsWellDefined": "ENSP00000331902.6:p.[Pro949_Ser962delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly964_Lys966delinsGluArgArg;Glu968_Ser978delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258897"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3090,
          "referenceAllele": "C",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.6:c.2846del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Pro949GlnfsTer?",
        "hgvsWellDefined": "ENSP00000354505.2:p.[Pro949_Ser962delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly964_Lys966delinsGluArgArg;Glu968_Ser978delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265564"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2302,
          "referenceAllele": "C",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000483338.1:n.2302del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322830"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 79,
          "referenceAllele": "C",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000505728.1:c.79del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337438"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3128,
          "referenceAllele": "C",
          "start": 3127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.4:c.2846del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Pro949GlnfsTer?",
        "hgvsWellDefined": "NP_000486.1:p.[Pro949_Ser962delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly964_Lys966delinsGluArgArg;Glu968_Ser978delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006549"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3128,
          "referenceAllele": "C",
          "start": 3127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.2:c.2846del"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Pro949GlnfsTer?",
        "hgvsWellDefined": "NP_203699.1:p.[Pro949_Ser962delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly964_Lys966delinsGluArgArg;Glu968_Ser978delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039706"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3163,
          "referenceAllele": "C",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262070.2:c.2846del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262127.1:p.Pro949GlnfsTer?",
        "hgvsWellDefined": "XP_005262127.1:p.[Pro949_Ser962delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly964_Lys966delinsGluArgArg;Glu968_Ser978delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063311"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3163,
          "referenceAllele": "C",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262072.3:c.2846del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262129.1:p.Pro949GlnfsTer?",
        "hgvsWellDefined": "XP_005262129.1:p.[Pro949_Ser962delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly964_Lys966delinsGluArgArg;Glu968_Ser978delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063312"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3026,
          "referenceAllele": "C",
          "start": 3025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_006724616.2:c.2846del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724679.1:p.Pro949GlnfsTer?",
        "hgvsWellDefined": "XP_006724679.1:p.[Pro949_Ser962delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly964_Lys966delinsGluArgArg;Glu968_Ser978delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075622"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2784,
          "referenceAllele": "C",
          "start": 2783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.1:c.2522del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.1:p.Pro841GlnfsTer?",
        "hgvsWellDefined": "XP_011529151.1:p.[Pro841_Ser854delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly856_Lys858delinsGluArgArg;Glu860_Ser870delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097892"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3163,
          "referenceAllele": "C",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530850.1:c.2846del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529152.1:p.Pro949GlnfsTer?",
        "hgvsWellDefined": "XP_011529152.1:p.[Pro949_Ser962delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly964_Lys966delinsGluArgArg;Glu968_Ser978delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097893"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530851.1:c.419del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529153.1:p.Pro140GlnfsTer?",
        "hgvsWellDefined": "XP_011529153.1:p.[Pro140_Ser153delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly155_Lys157delinsGluArgArg;Glu159_Ser169delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097894"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2876,
          "referenceAllele": "C",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.2:c.2861del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.2:p.Pro954GlnfsTer?",
        "hgvsWellDefined": "XP_011529151.2:p.[Pro954_Ser967delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly969_Lys971delinsGluArgArg;Glu973_Ser983delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550135"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2876,
          "referenceAllele": "C",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029259.2:c.2861del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884748.1:p.Pro954GlnfsTer?",
        "hgvsWellDefined": "XP_016884748.1:p.[Pro954_Ser967delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly969_Lys971delinsGluArgArg;Glu973_Ser983delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578835"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2876,
          "referenceAllele": "C",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029260.1:c.2861del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884749.1:p.Pro954GlnfsTer?",
        "hgvsWellDefined": "XP_016884749.1:p.[Pro954_Ser967delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly969_Lys971delinsGluArgArg;Glu973_Ser983delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578836"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2876,
          "referenceAllele": "C",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029261.1:c.2861del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884750.1:p.Pro954GlnfsTer?",
        "hgvsWellDefined": "XP_016884750.1:p.[Pro954_Ser967delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly969_Lys971delinsGluArgArg;Glu973_Ser983delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578837"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2876,
          "referenceAllele": "C",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029262.2:c.2861del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884751.1:p.Pro954GlnfsTer?",
        "hgvsWellDefined": "XP_016884751.1:p.[Pro954_Ser967delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly969_Lys971delinsGluArgArg;Glu973_Ser983delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029263.2:c.1181del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884752.1:p.Pro394GlnfsTer?",
        "hgvsWellDefined": "XP_016884752.1:p.[Pro394_Ser407delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly409_Lys411delinsGluArgArg;Glu413_Ser423delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578839"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3134,
          "referenceAllele": "C",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.5:c.2846del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Pro949GlnfsTer?",
        "hgvsWellDefined": "NP_000486.1:p.[Pro949_Ser962delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly964_Lys966delinsGluArgArg;Glu968_Ser978delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3134,
          "referenceAllele": "C",
          "start": 3133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.2846del"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Pro949GlnfsTer?",
        "hgvsWellDefined": "NP_203699.1:p.[Pro949_Ser962delinsGlnAlaLeuLeuAspGlnTrpIleGlnIlePheTrpAlaGln;Gly964_Lys966delinsGluArgArg;Glu968_Ser978delinsAsnLeuAlaTyrGlnValTyrLeuGluPheGln]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.2846del"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.2846del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Pro949GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Pro949GlnfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}