{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10385235",
  "communityStandardTitle": [
    "NM_001034853.2(RPGR):c.2901_2903del (p.Glu969del)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1192499[alleleid]",
        "alleleId": 1192499,
        "preferredName": "NM_001034853.2(RPGR):c.2901_2903del (p.Glu969del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1199928",
        "RCV": [
          "RCV001564776"
        ],
        "variationId": 1199928
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-38145348-CTCT-C",
        "id": "X-38145348-CTCT-C",
        "variant": "X:38145348 CTCT / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.38145349_38145351del?assembly=hg19",
        "id": "chrX:g.38145349_38145351del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.38286097_38286099del?assembly=hg38",
        "id": "chrX:g.38286097_38286099del"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.38286096_38286098del?assembly=hg38",
        "id": "chrX:g.38286096_38286098del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753744103",
        "rs": 753744103
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-38145348-CTCT-C?dataset=gnomad_r2_1",
        "id": "X-38145348-CTCT-C",
        "variant": "X:38145348 CTCT / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-38286095-CTCT-C?dataset=gnomad_r3",
        "id": "X-38286095-CTCT-C",
        "variant": "X:38286095 CTCT / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-38286095-CTCT-C?dataset=gnomad_r4",
        "id": "X-38286095-CTCT-C",
        "variant": "X:38286095 CTCT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 38286100,
          "referenceAllele": "TTC",
          "start": 38286097
        }
      ],
      "hgvs": [
        "NC_000023.11:g.38286098_38286100del",
        "CM000685.2:g.38286098_38286100del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 38145353,
          "referenceAllele": "TTC",
          "start": 38145350
        }
      ],
      "hgvs": [
        "NC_000023.10:g.38145351_38145353del",
        "CM000685.1:g.38145351_38145353del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "",
          "end": 38030297,
          "referenceAllele": "TTC",
          "start": 38030294
        }
      ],
      "hgvs": [
        "NC_000023.9:g.38030295_38030297del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 46440,
          "referenceAllele": "AAG",
          "start": 46437
        }
      ],
      "hgvs": [
        "NG_009553.1:g.46438_46440del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001607"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 953,
          "endIntronDirection": "+",
          "endIntronOffset": 1769,
          "referenceAllele": "AAG",
          "start": 953,
          "startIntronDirection": "+",
          "startIntronOffset": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000494707.6:c.953+1767_953+1769del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757775"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1826,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1826,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000642170.1:n.1826+4861_1826+4863del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766595"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2047,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 2047,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000642395.2:c.1905+996_1905+998del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493468.2:n.1905+996_1905+998del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766720"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1732,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1732,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000642739.1:c.1572+4861_1572+4863del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493596.1:n.1572+4861_1572+4863del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766904"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1534,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1534,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000644238.1:c.1386+4861_1386+4863del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496728.1:n.1386+4861_1386+4863del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767715"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1887,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 1887,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000644337.1:c.1719+996_1719+998del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494557.1:n.1719+996_1719+998del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767768"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3045,
          "referenceAllele": "AAG",
          "start": 3042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000645032.1:c.2901_2903del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495537.1:p.Glu968del",
        "hgvsWellDefined": "ENSP00000495537.1:p.Glu969del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768134",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645032.1:c.2901_2903del"
          },
          "RefSeq": {
            "hgvs": "NM_001034853.2:c.2901_2903del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495537.1:p.Glu968del"
          },
          "RefSeq": {
            "hgvs": "NP_001030025.1:p.Glu968del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1860,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 1860,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000645124.1:c.*101+996_*101+998del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496446.1:n.*101+996_*101+998del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768185"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2282,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 2282,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000646020.1:c.*594+996_*594+998del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494745.1:n.*594+996_*594+998del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768653"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2102,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 2102,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000318842.11:c.1905+996_1905+998del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000322219.6:n.1905+996_1905+998del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257585"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2688,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 2688,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000339363.7:c.2520+996_2520+998del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343671.3:n.2520+996_2520+998del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260845"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3080,
          "referenceAllele": "AAG",
          "start": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000378505.6:c.2901_2903del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367766.2:p.Glu968del",
        "hgvsWellDefined": "ENSP00000367766.2:p.Glu969del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272063"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 278,
          "endIntronDirection": "-",
          "endIntronOffset": 380020,
          "referenceAllele": "TTC",
          "start": 278,
          "startIntronDirection": "-",
          "startIntronOffset": 380023
        }
      ],
      "hgvs": [
        "ENST00000465127.1:c.172-380023_172-380021del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417050.1:n.172-380023_172-380021del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308795"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1619,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1619,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000474584.5:c.*37+4861_*37+4863del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418926.1:n.*37+4861_*37+4863del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316065"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1960,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 1960,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000482855.5:c.1905+996_1905+998del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419276.1:n.1905+996_1905+998del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322452"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 139,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 139,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "ENST00000494707.5:c.139+4861_139+4863del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331572"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2073,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 2073,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_000328.2:c.1905+996_1905+998del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000319.1:n.1905+996_1905+998del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006391"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499235919",
      "coordinates": [
        {
          "allele": "",
          "end": 3071,
          "referenceAllele": "AAG",
          "start": 3068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001034853.1:c.2901_2903del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030025.1:p.Glu968del",
        "hgvsWellDefined": "NP_001030025.1:p.Glu969del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009197"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1769,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1769,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "XM_005272633.1:c.1572+4861_1572+4863del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272690.1:n.1572+4861_1572+4863del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067316"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2099,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 2099,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "XM_011543940.1:c.1902+996_1902+998del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542242.1:n.1902+996_1902+998del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110853"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1747,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1747,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "XM_005272633.3:c.1572+4861_1572+4863del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272690.1:n.1572+4861_1572+4863del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537335"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2077,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 2077,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "XM_011543940.3:c.1902+996_1902+998del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542242.1:n.1902+996_1902+998del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555436"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1744,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1744,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "XM_017029712.2:c.1569+4861_1569+4863del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885201.1:n.1569+4861_1569+4863del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2044,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 2044,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367245.1:c.1902+996_1902+998del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354174.1:n.1902+996_1902+998del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664512"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1861,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 1861,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367246.1:c.1719+996_1719+998del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354175.1:n.1719+996_1719+998del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1714,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1714,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367247.1:c.1572+4861_1572+4863del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354176.1:n.1572+4861_1572+4863del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664514"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1640,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1640,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367248.1:c.1602+4861_1602+4863del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354177.1:n.1602+4861_1602+4863del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664515"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1711,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1711,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367249.1:c.1569+4861_1569+4863del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354178.1:n.1569+4861_1569+4863del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664516"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1711,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1711,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367250.1:c.1569+4861_1569+4863del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354179.1:n.1569+4861_1569+4863del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664517"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1528,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1528,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001367251.1:c.1386+4861_1386+4863del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354180.1:n.1386+4861_1386+4863del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664518"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2263,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 2263,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NR_159803.1:n.2263+996_2263+998del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673376"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1648,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1648,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NR_159804.1:n.1648+4861_1648+4863del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673377"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1714,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1714,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NR_159805.1:n.1714+4861_1714+4863del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673378"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1866,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 1866,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NR_159806.1:n.1866+996_1866+998del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673379"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1622,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1622,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NR_159807.1:n.1622+4861_1622+4863del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673380"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1826,
          "endIntronDirection": "+",
          "endIntronOffset": 4863,
          "referenceAllele": "AAG",
          "start": 1826,
          "startIntronDirection": "+",
          "startIntronOffset": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NR_159808.1:n.1826+4861_1826+4863del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673381"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2047,
          "endIntronDirection": "+",
          "endIntronOffset": 998,
          "referenceAllele": "AAG",
          "start": 2047,
          "startIntronDirection": "+",
          "startIntronOffset": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_000328.3:c.1905+996_1905+998del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000319.1:n.1905+996_1905+998del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499235919",
      "coordinates": [
        {
          "allele": "",
          "end": 3045,
          "referenceAllele": "AAG",
          "start": 3042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NM_001034853.2:c.2901_2903del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001030025.1:p.Glu968del",
        "hgvsWellDefined": "NP_001030025.1:p.Glu969del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000645032.1:c.2901_2903del"
          },
          "RefSeq": {
            "hgvs": "NM_001034853.2:c.2901_2903del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495537.1:p.Glu968del"
          },
          "RefSeq": {
            "hgvs": "NP_001030025.1:p.Glu968del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}