{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10575799",
  "communityStandardTitle": [
    "NM_000278.5(PAX2):c.58_64dup (p.Gln22ArgfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213937[alleleid]",
        "alleleId": 213937,
        "preferredName": "NM_000278.5(PAX2):c.58_64dup (p.Gln22fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217288",
        "RCV": [
          "RCV000240647"
        ],
        "variationId": 217288
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.102509516_102509517insGTGAACC?assembly=hg19",
        "id": "chr10:g.102509516_102509517insGTGAACC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.100749759_100749760insGTGAACC?assembly=hg38",
        "id": "chr10:g.100749759_100749760insGTGAACC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886037756",
        "rs": 886037756
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 100749766,
          "referenceAllele": "",
          "start": 100749766
        }
      ],
      "hgvs": [
        "NC_000010.11:g.100749760_100749766dup",
        "CM000672.2:g.100749760_100749766dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 102509523,
          "referenceAllele": "",
          "start": 102509523
        }
      ],
      "hgvs": [
        "NC_000010.10:g.102509517_102509523dup",
        "CM000672.1:g.102509517_102509523dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 102499513,
          "referenceAllele": "",
          "start": 102499513
        }
      ],
      "hgvs": [
        "NC_000010.9:g.102499507_102499513dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 9056,
          "referenceAllele": "",
          "start": 9056
        }
      ],
      "hgvs": [
        "NG_008680.1:g.9050_9056dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001165"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 19058,
          "referenceAllele": "",
          "start": 19058
        }
      ],
      "hgvs": [
        "NG_008680.2:g.19052_19058dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616108"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 470,
          "referenceAllele": "",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000707078.1:c.151_157dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516729.1:p.Gln53ArgfsTer?",
        "hgvsWellDefined": "ENSP00000516729.1:p.[Gln53_Phe58delinsArgGluProAlaArgGlyGly;Asn60_Gly61delinsCysGlu;Leu64Ala;Asp66_Val68delinsThr;Gln70del;Ile72_Val73delinsGly;Leu75Ala;Gln78Arg;Val80_Arg81delinsAlaGly;Pro82_Cys83insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913309"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 743,
          "referenceAllele": "",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000707079.1:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516730.1:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "ENSP00000516730.1:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913310"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 743,
          "referenceAllele": "",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000355243.8:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347385.3:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "ENSP00000347385.3:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748645",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355243.8:c.58_64dup"
          },
          "RefSeq": {
            "hgvs": "NM_000278.5:c.58_64dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347385.3:p.Gln22ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000269.3:p.Gln22ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 743,
          "referenceAllele": "",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000427256.6:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398652.2:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "ENSP00000398652.2:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755171"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 359,
          "referenceAllele": "",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000679374.1:c.40_46dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506041.1:p.Gln16ArgfsTer?",
        "hgvsWellDefined": "ENSP00000506041.1:p.[Gln16_Phe21delinsArgGluProAlaArgGlyGly;Asn23_Gly24delinsCysGlu;Leu27Ala;Asp29_Val31delinsThr;Gln33del;Ile35_Val36delinsGly;Leu38Ala;Gln41Arg;Val43_Arg44delinsAlaGly;Pro45_Cys46insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779007"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000355243.7:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347385.2:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "ENSP00000347385.2:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263376"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 102,
          "referenceAllele": "",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000361791.7:c.55_61dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355069.4:p.Gln21ArgfsTer?",
        "hgvsWellDefined": "ENSP00000355069.4:p.[Gln21_Phe26delinsArgGluProAlaArgGlyGly;Asn28_Gly29delinsCysGlu;Leu32Ala;Asp34_Val36delinsThr;Gln38del;Ile40_Val41delinsGly;Leu43Ala;Gln46Arg;Val48_Arg49delinsAlaGly;Pro50_Cys51insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265657"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000370296.6:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359319.3:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "ENSP00000359319.3:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267981"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 97,
          "referenceAllele": "",
          "start": 97
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000427256.5:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398652.1:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "ENSP00000398652.1:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289612"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000428433.5:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396259.1:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "ENSP00000396259.1:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290196"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 1066,
          "referenceAllele": "",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000483202.2:n.1060_1066dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322731"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 131,
          "endIntronDirection": "+",
          "endIntronOffset": 14033,
          "referenceAllele": "",
          "start": 131,
          "startIntronDirection": "+",
          "startIntronOffset": 14033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000553492.5:n.131+14027_131+14033dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369896"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 917,
          "referenceAllele": "",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000554172.2:c.70_76dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452489.2:p.Gln26ArgfsTer?",
        "hgvsWellDefined": "ENSP00000452489.2:p.[Gln26_Phe31delinsArgGluProAlaArgGlyGly;Asn33_Gly34delinsCysGlu;Leu37Ala;Asp39_Val41delinsThr;Gln43del;Ile45_Val46delinsGly;Leu48Ala;Gln51Arg;Val53_Arg54delinsAlaGly;Pro55_Cys56insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370429"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 125,
          "endIntronDirection": "+",
          "endIntronOffset": 3463,
          "referenceAllele": "",
          "start": 125,
          "startIntronDirection": "+",
          "startIntronOffset": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "ENST00000554363.2:n.125+3457_125+3463dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370582"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.3:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.2:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_000269.2:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006340"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 157,
          "referenceAllele": "",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_001304569.1:c.151_157dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291498.1:p.Gln53ArgfsTer?",
        "hgvsWellDefined": "NP_001291498.1:p.[Gln53_Phe58delinsArgGluProAlaArgGlyGly;Asn60_Gly61delinsCysGlu;Leu64Ala;Asp66_Val68delinsThr;Gln70del;Ile72_Val73delinsGly;Leu75Ala;Gln78Arg;Val80_Arg81delinsAlaGly;Pro82_Cys83insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025773"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.3:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.2:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_003978.2:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029188"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.3:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_003979.2:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029189"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.3:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.2:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_003980.2:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029190"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.3:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.2:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_003981.2:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029191"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.4:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.3:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_000269.3:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510775"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.4:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.3:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_003978.3:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525158"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.4:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_003979.2:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525159"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.4:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_003980.3:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525160"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 614,
          "referenceAllele": "",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.4:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_003981.3:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525161"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 743,
          "referenceAllele": "",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.5:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.3:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_000269.3:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674773",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355243.8:c.58_64dup"
          },
          "RefSeq": {
            "hgvs": "NM_000278.5:c.58_64dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347385.3:p.Gln22ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000269.3:p.Gln22ArgfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 470,
          "referenceAllele": "",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_001304569.2:c.151_157dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291498.1:p.Gln53ArgfsTer?",
        "hgvsWellDefined": "NP_001291498.1:p.[Gln53_Phe58delinsArgGluProAlaArgGlyGly;Asn60_Gly61delinsCysGlu;Leu64Ala;Asp66_Val68delinsThr;Gln70del;Ile72_Val73delinsGly;Leu75Ala;Gln78Arg;Val80_Arg81delinsAlaGly;Pro82_Cys83insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683727"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 743,
          "referenceAllele": "",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.5:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.3:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_003978.3:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696006"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 743,
          "referenceAllele": "",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.5:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_003979.2:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696007"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 743,
          "referenceAllele": "",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.5:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_003980.3:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696008"
    },
    {
      "coordinates": [
        {
          "allele": "GTGAACC",
          "end": 743,
          "referenceAllele": "",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.5:c.58_64dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Gln22ArgfsTer?",
        "hgvsWellDefined": "NP_003981.3:p.[Gln22_Phe27delinsArgGluProAlaArgGlyGly;Asn29_Gly30delinsCysGlu;Leu33Ala;Asp35_Val37delinsThr;Gln39del;Ile41_Val42delinsGly;Leu44Ala;Gln47Arg;Val49_Arg50delinsAlaGly;Pro51_Cys52insProGlyCysAlaAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696009"
    }
  ],
  "type": "nucleotide"
}