{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413845563",
  "communityStandardTitle": [
    "NM_033380.3(COL4A5):c.1768A>T (p.Lys590Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=962809[alleleid]",
        "alleleId": 962809,
        "preferredName": "NM_033380.3(COL4A5):c.1768A>T (p.Lys590Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/974423",
        "RCV": [
          "RCV001281175"
        ],
        "variationId": 974423
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.107840787A>T?assembly=hg19",
        "id": "chrX:g.107840787A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.108597557A>T?assembly=hg38",
        "id": "chrX:g.108597557A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368137679",
        "rs": 368137679
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 108597557,
          "referenceAllele": "A",
          "start": 108597556
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108597557A>T",
        "CM000685.2:g.108597557A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 107840787,
          "referenceAllele": "A",
          "start": 107840786
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107840787A>T",
        "CM000685.1:g.107840787A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 107727443,
          "referenceAllele": "A",
          "start": 107727442
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107727443A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162634,
          "referenceAllele": "A",
          "start": 162633
        }
      ],
      "hgvs": [
        "NG_011977.1:g.162634A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162634,
          "referenceAllele": "A",
          "start": 162633
        }
      ],
      "hgvs": [
        "NG_011977.2:g.162634A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2056,
          "referenceAllele": "A",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.11:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.7:p.Lys590Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.1768A>T"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.1768A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Lys590Ter"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Lys590Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1970,
          "referenceAllele": "A",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.7:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Lys590Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2012,
          "referenceAllele": "A",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.10:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.6:p.Lys590Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258897"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2012,
          "referenceAllele": "A",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.6:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Lys590Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1224,
          "referenceAllele": "A",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000483338.1:n.1224A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2050,
          "referenceAllele": "A",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.4:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Lys590Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2050,
          "referenceAllele": "A",
          "start": 2049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.2:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Lys590Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2085,
          "referenceAllele": "A",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262070.2:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262127.1:p.Lys590Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2085,
          "referenceAllele": "A",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262072.3:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262129.1:p.Lys590Ter",
        "hgvsWellDefined": "XP_005262129.1:p.Lys590_Lys1096delinsGlyGluProGlyGlyIleThrPheLysGlyGluArgGlyProProGlyAsnProGlyLeuProGlyLeuProGlyAsnIleGlyProMetGlyProProGlyPheGlyProProGlyProValGlyGluLysGlyIleGlnGlyValAlaGlyAsnProGlyGlnProGlyIleProGlyProLysGlyAspProGlyGlnThrIleThrGlnProGlyLysProGlyLeuProGlyAsnProGlyArgAspGlyAspValGlyLeuProGlyAspProGlyLeuProGlyGlnProGlyLeuProGlyIleProGlySerLysGlyGluProGlyIleProGlyIleGlyLeuProGlyProProGlyProLysGlyPheProGlyIleProGlyProProGlyAlaProGlyThrProGlyArgIleGlyLeuGluGlyProProGlyProProGlyPheProGlyProLysGlyGluProGlyPheAlaLeuProGlyProProGlyProProGlyLeuProGlyPheLysGlyAlaLeuGlyProLysGlyAspArgGlyPheProGlyProProGlyProProGlyArgThrGlyLeuAspGlyLeuProGlyProLysGlyAspValGlyProAsnGlyGlnProGlyProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysMetIleArgArgTyrValLeuGlyPheValAlaSerProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1948,
          "referenceAllele": "A",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_006724616.2:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724679.1:p.Lys590Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1706,
          "referenceAllele": "A",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.1:c.1444A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.1:p.Lys482Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2085,
          "referenceAllele": "A",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530850.1:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529152.1:p.Lys590Ter",
        "hgvsWellDefined": "XP_011529152.1:p.Lys590_Cys1284delinsGlyGluProGlyGlyIleThrPheLysGlyGluArgGlyProProGlyAsnProGlyLeuProGlyLeuProGlyAsnIleGlyProMetGlyProProGlyPheGlyProProGlyProValGlyGluLysGlyIleGlnGlyValAlaGlyAsnProGlyGlnProGlyIleProGlyProLysGlyAspProGlyGlnThrIleThrGlnProGlyLysProGlyLeuProGlyAsnProGlyArgAspGlyAspValGlyLeuProGlyAspProGlyLeuProGlyGlnProGlyLeuProGlyIleProGlySerLysGlyGluProGlyIleProGlyIleGlyLeuProGlyProProGlyProLysGlyPheProGlyIleProGlyProProGlyAlaProGlyThrProGlyArgIleGlyLeuGluGlyProProGlyProProGlyPheProGlyProLysGlyGluProGlyPheAlaLeuProGlyProProGlyProProGlyLeuProGlyPheLysGlyAlaLeuGlyProLysGlyAspArgGlyPheProGlyProProGlyProProGlyArgThrGlyLeuAspGlyLeuProGlyProLysGlyAspValGlyProAsnGlyGlnProGlyProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnThrIleProProSerHisPheGlyLeuSerGlnSerSerGlnPheTyrCysCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1798,
          "referenceAllele": "A",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.2:c.1783A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.2:p.Lys595Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1798,
          "referenceAllele": "A",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029259.2:c.1783A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884748.1:p.Lys595Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1798,
          "referenceAllele": "A",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029260.1:c.1783A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884749.1:p.Lys595Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1798,
          "referenceAllele": "A",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029261.1:c.1783A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884750.1:p.Lys595Ter",
        "hgvsWellDefined": "XP_016884750.1:p.Lys595_Leu1330delinsGlyGluProGlyGlyIleThrPheLysGlyGluArgGlyProProGlyAsnProGlyLeuProGlyLeuProGlyAsnIleGlyProMetGlyProProGlyPheGlyProProGlyProValGlyGluLysGlyIleGlnGlyValAlaGlyAsnProGlyGlnProGlyIleProGlyProLysGlyAspProGlyGlnThrIleThrGlnProGlyLysProGlyLeuProGlyAsnProGlyArgAspGlyAspValGlyLeuProGlyAspProGlyLeuProGlyGlnProGlyLeuProGlyIleProGlySerLysGlyGluProGlyIleProGlyIleGlyLeuProGlyProProGlyProLysGlyPheProGlyIleProGlyProProGlyAlaProGlyThrProGlyArgIleGlyLeuGluGlyProProGlyProProGlyPheProGlyProLysGlyGluProGlyPheAlaLeuProGlyProProGlyProProGlyLeuProGlyPheLysGlyAlaLeuGlyProLysGlyAspArgGlyPheProGlyProProGlyProProGlyArgThrGlyLeuAspGlyLeuProGlyProLysGlyAspValGlyProAsnGlyGlnProGlyProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyProThrGlyPheGlnGlyLeuProGlyProGluGlyProProGlyLeuProGlyAsnGlyGlyIleLysGlyGluLysGlyAsnProGlyGlnProGlyLeuProGlyLeuProGlyLeuLysGlyAspGlnGlyProProGlyLeuGlnTrpPheAspLeuIleValGlnArgGluIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1798,
          "referenceAllele": "A",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029262.2:c.1783A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884751.1:p.Lys595Ter",
        "hgvsWellDefined": "XP_016884751.1:p.Lys595_Cys1289delinsGlyGluProGlyGlyIleThrPheLysGlyGluArgGlyProProGlyAsnProGlyLeuProGlyLeuProGlyAsnIleGlyProMetGlyProProGlyPheGlyProProGlyProValGlyGluLysGlyIleGlnGlyValAlaGlyAsnProGlyGlnProGlyIleProGlyProLysGlyAspProGlyGlnThrIleThrGlnProGlyLysProGlyLeuProGlyAsnProGlyArgAspGlyAspValGlyLeuProGlyAspProGlyLeuProGlyGlnProGlyLeuProGlyIleProGlySerLysGlyGluProGlyIleProGlyIleGlyLeuProGlyProProGlyProLysGlyPheProGlyIleProGlyProProGlyAlaProGlyThrProGlyArgIleGlyLeuGluGlyProProGlyProProGlyPheProGlyProLysGlyGluProGlyPheAlaLeuProGlyProProGlyProProGlyLeuProGlyPheLysGlyAlaLeuGlyProLysGlyAspArgGlyPheProGlyProProGlyProProGlyArgThrGlyLeuAspGlyLeuProGlyProLysGlyAspValGlyProAsnGlyGlnProGlyProMetGlyProProGlyLeuProGlyIleGlyValGlnGlyProProGlyProProGlyIleProGlyProIleGlyGlnProGlyLeuHisGlyIleProGlyGluLysGlyAspProGlyProProGlyLeuAspValProGlyProProGlyGluArgGlySerProGlyIleProGlyAlaProGlyProIleGlyProProGlySerProGlyLeuProGlyLysAlaGlyAlaSerGlyPheProGlyThrLysGlyGluMetGlyMetMetGlyProProGlyProProGlyProLeuGlyIleProGlyArgSerGlyValProGlyLeuLysGlyAspAspGlyLeuGlnGlyGlnProGlyLeuProGlyProThrGlyGluLysGlySerLysGlyGluProGlyLeuProGlyProProGlyProMetAspProAsnLeuLeuGlySerLysGlyGluLysGlyGluProGlyLeuProGlyIleProGlyValSerGlyProLysGlyTyrGlnGlyLeuProGlyAspProGlyGlnProGlyLeuSerGlyGlnProGlyLeuProGlyProProGlyProLysGlyAsnProGlyLeuProGlyGlnProGlyLeuIleGlyProProGlyLeuLysGlyThrIleGlyAspMetGlyPheProGlyProGlnGlyValGluGlyProProGlyProSerGlyValProGlyGlnProGlySerProGlyLeuProGlyGlnLysGlyAspLysGlyAspProGlyIleSerSerIleGlyLeuProGlyLeuProGlyProLysGlyGluProGlyLeuProGlyTyrProGlyAsnProGlyIleLysGlySerValGlyAspProGlyLeuProGlyLeuProGlyThrProGlyAlaLysGlyGlnProGlyLeuProGlyPheProGlyThrProGlyProProGlyProLysGlyIleSerGlyProProGlyAsnProGlyLeuProGlyGluProGlyProValGlyGlyGlyGlyHisProGlyGlnProGlyProProGlyGluLysGlyLysProGlyGlnAspGlyIleProGlyProAlaGlyGlnLysGlyGluProGlyGlnProGlyPheGlyAsnProGlyProProGlyLeuProGlyLeuSerGlyGlnLysGlyAspGlyGlyLeuProGlyIleProGlyAsnProGlyLeuProGlyProLysGlyGluProGlyPheHisGlyPheProGlyValGlnGlyProProGlyProProGlySerProGlyProAlaLeuGluGlyProLysGlyAsnProGlyProGlnGlyProProGlyArgProGlyPheGlnThrIleProProSerHisPheGlyLeuSerGlnSerSerGlnPheTyrCysCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "A",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029263.2:c.103A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884752.1:p.Lys35Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2056,
          "referenceAllele": "A",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.5:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Lys590Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2056,
          "referenceAllele": "A",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.1768A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Lys590Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.1768A>T"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.1768A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Lys590Ter"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Lys590Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}