{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580100318",
  "communityStandardTitle": [
    "NM_033380.3(COL4A5):c.2103_2104insATTG (p.Gly702IlefsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1706581[alleleid]",
        "alleleId": 1706581,
        "preferredName": "NM_033380.3(COL4A5):c.2103_2104insATTG (p.Gly702fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1708282",
        "RCV": [
          "RCV002287655"
        ],
        "variationId": 1708282
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2524328750",
        "rs": 2524328750
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 108601946,
          "referenceAllele": "",
          "start": 108601946
        }
      ],
      "hgvs": [
        "NC_000023.11:g.108601946_108601947insATTG",
        "CM000685.2:g.108601946_108601947insATTG"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 107845176,
          "referenceAllele": "",
          "start": 107845176
        }
      ],
      "hgvs": [
        "NC_000023.10:g.107845176_107845177insATTG",
        "CM000685.1:g.107845176_107845177insATTG"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 107731832,
          "referenceAllele": "",
          "start": 107731832
        }
      ],
      "hgvs": [
        "NC_000023.9:g.107731832_107731833insATTG"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 167023,
          "referenceAllele": "",
          "start": 167023
        }
      ],
      "hgvs": [
        "NG_011977.1:g.167023_167024insATTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002082"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 167023,
          "referenceAllele": "",
          "start": 167023
        }
      ],
      "hgvs": [
        "NG_011977.2:g.167023_167024insATTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673573"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2391,
          "referenceAllele": "",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.11:c.2103_2104insATTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.7:p.Gly702IlefsTer?",
        "hgvsWellDefined": "ENSP00000331902.7:p.[Pro701_Gly702insIle;Ile703Tyr;Gly705_Gly731delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.2103_2104insATTG"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.2103_2104insATTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Gly702IlefsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Gly702IlefsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2305,
          "referenceAllele": "",
          "start": 2305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.7:c.2103_2104insATTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Gly702IlefsTer?",
        "hgvsWellDefined": "ENSP00000354505.2:p.[Pro701_Gly702insIle;Ile703Tyr;Gly705_Gly731delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749508"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2347,
          "referenceAllele": "",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000328300.10:c.2103_2104insATTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000331902.6:p.Gly702IlefsTer?",
        "hgvsWellDefined": "ENSP00000331902.6:p.[Pro701_Gly702insIle;Ile703Tyr;Gly705_Gly731delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258897"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2347,
          "referenceAllele": "",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000361603.6:c.2103_2104insATTG"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354505.2:p.Gly702IlefsTer?",
        "hgvsWellDefined": "ENSP00000354505.2:p.[Pro701_Gly702insIle;Ile703Tyr;Gly705_Gly731delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265564"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 1559,
          "referenceAllele": "",
          "start": 1559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "ENST00000483338.1:n.1559_1560insATTG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322830"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2385,
          "referenceAllele": "",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.4:c.2103_2104insATTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Gly702IlefsTer?",
        "hgvsWellDefined": "NP_000486.1:p.[Pro701_Gly702insIle;Ile703Tyr;Gly705_Gly731delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006549"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2385,
          "referenceAllele": "",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.2:c.2103_2104insATTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Gly702IlefsTer?",
        "hgvsWellDefined": "NP_203699.1:p.[Pro701_Gly702insIle;Ile703Tyr;Gly705_Gly731delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039706"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2420,
          "referenceAllele": "",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262070.2:c.2103_2104insATTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262127.1:p.Gly702IlefsTer?",
        "hgvsWellDefined": "XP_005262127.1:p.[Pro701_Gly702insIle;Ile703Tyr;Gly705_Gly731delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063311"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2420,
          "referenceAllele": "",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_005262072.3:c.2103_2104insATTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262129.1:p.Gly702IlefsTer?",
        "hgvsWellDefined": "XP_005262129.1:p.[Pro701_Gly702insIle;Ile703Tyr;Gly705_Gly731delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063312"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2283,
          "referenceAllele": "",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_006724616.2:c.2103_2104insATTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724679.1:p.Gly702IlefsTer?",
        "hgvsWellDefined": "XP_006724679.1:p.[Pro701_Gly702insIle;Ile703Tyr;Gly705_Gly731delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075622"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2041,
          "referenceAllele": "",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.1:c.1779_1780insATTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.1:p.Gly594IlefsTer?",
        "hgvsWellDefined": "XP_011529151.1:p.[Pro593_Gly594insIle;Ile595Tyr;Gly597_Gly623delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097892"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2420,
          "referenceAllele": "",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530850.1:c.2103_2104insATTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529152.1:p.Gly702IlefsTer?",
        "hgvsWellDefined": "XP_011529152.1:p.[Pro701_Gly702insIle;Ile703Tyr;Gly705_Gly731delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097893"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2133,
          "referenceAllele": "",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_011530849.2:c.2118_2119insATTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529151.2:p.Gly707IlefsTer?",
        "hgvsWellDefined": "XP_011529151.2:p.[Pro706_Gly707insIle;Ile708Tyr;Gly710_Gly736delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550135"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2133,
          "referenceAllele": "",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029259.2:c.2118_2119insATTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884748.1:p.Gly707IlefsTer?",
        "hgvsWellDefined": "XP_016884748.1:p.[Pro706_Gly707insIle;Ile708Tyr;Gly710_Gly736delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578835"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2133,
          "referenceAllele": "",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029260.1:c.2118_2119insATTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884749.1:p.Gly707IlefsTer?",
        "hgvsWellDefined": "XP_016884749.1:p.[Pro706_Gly707insIle;Ile708Tyr;Gly710_Gly736delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578836"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2133,
          "referenceAllele": "",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029261.1:c.2118_2119insATTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884750.1:p.Gly707IlefsTer?",
        "hgvsWellDefined": "XP_016884750.1:p.[Pro706_Gly707insIle;Ile708Tyr;Gly710_Gly736delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578837"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2133,
          "referenceAllele": "",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029262.2:c.2118_2119insATTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884751.1:p.Gly707IlefsTer?",
        "hgvsWellDefined": "XP_016884751.1:p.[Pro706_Gly707insIle;Ile708Tyr;Gly710_Gly736delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578838"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 1217,
          "referenceAllele": "",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "XM_017029263.2:c.438_439insATTG"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884752.1:p.Gly147IlefsTer?",
        "hgvsWellDefined": "XP_016884752.1:p.[Pro146_Gly147insIle;Ile148Tyr;Gly150_Gly176delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578839"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2391,
          "referenceAllele": "",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_000495.5:c.2103_2104insATTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_000486.1:p.Gly702IlefsTer?",
        "hgvsWellDefined": "NP_000486.1:p.[Pro701_Gly702insIle;Ile703Tyr;Gly705_Gly731delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674868"
    },
    {
      "coordinates": [
        {
          "allele": "ATTG",
          "end": 2391,
          "referenceAllele": "",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002207",
      "geneNCBI_id": 1287,
      "geneSymbol": "COL4A5",
      "hgvs": [
        "NM_033380.3:c.2103_2104insATTG"
      ],
      "proteinEffect": {
        "hgvs": "NP_203699.1:p.Gly702IlefsTer?",
        "hgvsWellDefined": "NP_203699.1:p.[Pro701_Gly702insIle;Ile703Tyr;Gly705_Gly731delinsTrpAsnTrpAlaSerTrpThrThrTrpSerGlnArgLeuSerTrpAsnSerArgThrSerArgSerThrTrpAspThrTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000328300.11:c.2103_2104insATTG"
          },
          "RefSeq": {
            "hgvs": "NM_033380.3:c.2103_2104insATTG"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000331902.7:p.Gly702IlefsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_203699.1:p.Gly702IlefsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}