{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA595495061",
  "communityStandardTitle": [
    "NM_001195263.2(PDZD7):c.1655dup (p.Ala553GlyfsTer19)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061847[alleleid]",
        "alleleId": 1061847,
        "preferredName": "NM_001195263.2(PDZD7):c.1655dup (p.Ala553fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1069268",
        "RCV": [
          "RCV001381079",
          "RCV004550097"
        ],
        "variationId": 1069268
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.102775486_102775487insT?assembly=hg19",
        "id": "chr10:g.102775486_102775487insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.101015729_101015730insT?assembly=hg38",
        "id": "chr10:g.101015729_101015730insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1378470761",
        "rs": 1378470761
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-102775486-C-CT?dataset=gnomad_r2_1",
        "id": "10-102775486-C-CT",
        "variant": "10:102775486 C / CT"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-101015729-C-CT?dataset=gnomad_r3",
        "id": "10-101015729-C-CT",
        "variant": "10:101015729 C / CT"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-101015729-C-CT?dataset=gnomad_r4",
        "id": "10-101015729-C-CT",
        "variant": "10:101015729 C / CT"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 101015730,
          "referenceAllele": "",
          "start": 101015730
        }
      ],
      "hgvs": [
        "NC_000010.11:g.101015730dup",
        "CM000672.2:g.101015730dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 102775487,
          "referenceAllele": "",
          "start": 102775487
        }
      ],
      "hgvs": [
        "NC_000010.10:g.102775487dup",
        "CM000672.1:g.102775487dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 102765477,
          "referenceAllele": "",
          "start": 102765477
        }
      ],
      "hgvs": [
        "NC_000010.9:g.102765477dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20428,
          "referenceAllele": "",
          "start": 20428
        }
      ],
      "hgvs": [
        "NG_028030.1:g.20428dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004046"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2300,
          "endIntronDirection": "+",
          "endIntronOffset": 2369,
          "referenceAllele": "",
          "start": 2300,
          "startIntronDirection": "+",
          "startIntronOffset": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "ENST00000474125.7:c.*1700+2369dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474447.1:n.*1700+2369dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1877,
          "referenceAllele": "",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "ENST00000619208.6:c.1655dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480489.1:p.Ala553GlyfsTer19",
        "hgvsWellDefined": "ENSP00000480489.1:p.[Ala553_Arg558delinsGlyLeuGlyGlu;Leu560_Leu564delinsAla;Gln566_Asp572delinsProHisSerGlyProGlyPro;Val574_Leu575delinsAla;Val577_Cys581delinsAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762221",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000619208.6:c.1655dup"
          },
          "RefSeq": {
            "hgvs": "NM_001195263.2:c.1655dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480489.1:p.Ala553GlyfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_001182192.1:p.Ala553GlyfsTer19"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "endIntronDirection": "+",
          "endIntronOffset": 2369,
          "referenceAllele": "",
          "start": 1744,
          "startIntronDirection": "+",
          "startIntronOffset": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "ENST00000644782.1:c.1522+2369dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496747.1:n.1522+2369dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 379,
          "referenceAllele": "",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "ENST00000433616.5:c.379dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292627"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2300,
          "endIntronDirection": "+",
          "endIntronOffset": 2369,
          "referenceAllele": "",
          "start": 2300,
          "startIntronDirection": "+",
          "startIntronOffset": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "ENST00000474125.6:c.*1700+2369dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474447.1:n.*1700+2369dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1905,
          "referenceAllele": "",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "ENST00000619208.4:c.1655dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480489.1:p.Ala553GlyfsTer19",
        "hgvsWellDefined": "ENSP00000480489.1:p.[Ala553_Arg558delinsGlyLeuGlyGlu;Leu560_Leu564delinsAla;Gln566_Asp572delinsProHisSerGlyProGlyPro;Val574_Leu575delinsAla;Val577_Cys581delinsAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404276"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1905,
          "referenceAllele": "",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "NM_001195263.1:c.1655dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182192.1:p.Ala553GlyfsTer19",
        "hgvsWellDefined": "NP_001182192.1:p.[Ala553_Arg558delinsGlyLeuGlyGlu;Leu560_Leu564delinsAla;Gln566_Asp572delinsProHisSerGlyProGlyPro;Val574_Leu575delinsAla;Val577_Cys581delinsAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1770,
          "endIntronDirection": "+",
          "endIntronOffset": 2369,
          "referenceAllele": "",
          "start": 1770,
          "startIntronDirection": "+",
          "startIntronOffset": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XM_005270165.1:c.1522+2369dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270222.1:n.1522+2369dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2065,
          "referenceAllele": "",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XM_011540177.1:c.1655dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538479.1:p.Ala553GlyfsTer19",
        "hgvsWellDefined": "XP_011538479.1:p.[Ala553_Arg558delinsGlyLeuGlyGlu;Leu560_Leu564delinsAla;Gln566_Asp572delinsProHisSerGlyProGlyPro;Val574_Leu575delinsAla;Val577_Cys581delinsAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1900,
          "referenceAllele": "",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XM_011540178.1:c.1652dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538480.1:p.Ala552GlyfsTer19",
        "hgvsWellDefined": "XP_011538480.1:p.[Ala552_Arg557delinsGlyLeuGlyGlu;Leu559_Leu563delinsAla;Gln565_Asp571delinsProHisSerGlyProGlyPro;Val573_Leu574delinsAla;Val576_Cys580delinsAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1903,
          "referenceAllele": "",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XM_011540179.1:c.1655dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538481.1:p.Ala553GlyfsTer19",
        "hgvsWellDefined": "XP_011538481.1:p.[Ala553_Arg558delinsGlyLeuGlyGlu;Leu560_Leu564delinsAla;Gln566_Asp572delinsProHisSerGlyProGlyPro;Val574_Leu575delinsAla;Val577_Cys581delinsAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1854,
          "referenceAllele": "",
          "start": 1854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XM_011540180.1:c.1606dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538482.1:p.Arg536LysfsTer?",
        "hgvsWellDefined": "XP_011538482.1:p.[Arg536_Gly542delinsLysAlaTrpGluSerArgArg;Ser544_Phe545delinsLeuIleGlnAspLeuAlaGln;Arg546_Thr547insLeuLeu;Trp548_Pro549delinsAspAspGluValLeuAlaValThr;Gly551His]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1826,
          "referenceAllele": "",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XM_011540181.1:c.1578dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538483.1:p.Gly527ArgfsTer18",
        "hgvsWellDefined": "XP_011538483.1:p.[Gly527_Leu528delinsArgPro;Glu530_Ala533delinsArgAlaGlyGly;His535_Gly539delinsSerPheArgThrTrp;Glu541_Asp544delinsArgGlyCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1931,
          "referenceAllele": "",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XM_011540183.1:c.*81dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538485.1:n.*81dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS107132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1798,
          "endIntronDirection": "+",
          "endIntronOffset": 2369,
          "referenceAllele": "",
          "start": 1798,
          "startIntronDirection": "+",
          "startIntronOffset": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XR_945816.1:n.1798+2369dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1760,
          "endIntronDirection": "+",
          "endIntronOffset": 2369,
          "referenceAllele": "",
          "start": 1760,
          "startIntronDirection": "+",
          "startIntronOffset": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XM_005270165.3:c.1522+2369dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270222.1:n.1522+2369dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2065,
          "referenceAllele": "",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XM_011540177.3:c.1655dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538479.1:p.Ala553GlyfsTer19",
        "hgvsWellDefined": "XP_011538479.1:p.[Ala553_Arg558delinsGlyLeuGlyGlu;Leu560_Leu564delinsAla;Gln566_Asp572delinsProHisSerGlyProGlyPro;Val574_Leu575delinsAla;Val577_Cys581delinsAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1890,
          "referenceAllele": "",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XM_011540178.3:c.1652dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538480.1:p.Ala552GlyfsTer19",
        "hgvsWellDefined": "XP_011538480.1:p.[Ala552_Arg557delinsGlyLeuGlyGlu;Leu559_Leu563delinsAla;Gln565_Asp571delinsProHisSerGlyProGlyPro;Val573_Leu574delinsAla;Val576_Cys580delinsAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1893,
          "referenceAllele": "",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XM_011540179.3:c.1655dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538481.1:p.Ala553GlyfsTer19",
        "hgvsWellDefined": "XP_011538481.1:p.[Ala553_Arg558delinsGlyLeuGlyGlu;Leu560_Leu564delinsAla;Gln566_Asp572delinsProHisSerGlyProGlyPro;Val574_Leu575delinsAla;Val577_Cys581delinsAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1816,
          "referenceAllele": "",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XM_011540181.3:c.1578dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538483.1:p.Gly527ArgfsTer18",
        "hgvsWellDefined": "XP_011538483.1:p.[Gly527_Leu528delinsArgPro;Glu530_Ala533delinsArgAlaGlyGly;His535_Gly539delinsSerPheArgThrTrp;Glu541_Asp544delinsArgGlyCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1921,
          "referenceAllele": "",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XM_011540183.3:c.*81dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538485.1:n.*81dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553933"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1788,
          "endIntronDirection": "+",
          "endIntronOffset": 2369,
          "referenceAllele": "",
          "start": 1788,
          "startIntronDirection": "+",
          "startIntronOffset": 2369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "XR_945816.3:n.1788+2369dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614161"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1877,
          "referenceAllele": "",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026257",
      "geneNCBI_id": 79955,
      "geneSymbol": "PDZD7",
      "hgvs": [
        "NM_001195263.2:c.1655dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182192.1:p.Ala553GlyfsTer19",
        "hgvsWellDefined": "NP_001182192.1:p.[Ala553_Arg558delinsGlyLeuGlyGlu;Leu560_Leu564delinsAla;Gln566_Asp572delinsProHisSerGlyProGlyPro;Val574_Leu575delinsAla;Val577_Cys581delinsAsp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663969",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000619208.6:c.1655dup"
          },
          "RefSeq": {
            "hgvs": "NM_001195263.2:c.1655dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000480489.1:p.Ala553GlyfsTer19"
          },
          "RefSeq": {
            "hgvs": "NP_001182192.1:p.Ala553GlyfsTer19"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}