{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10615345",
  "communityStandardTitle": [
    "NM_153240.5(NPHP3):c.*121_*123del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=289582[alleleid]",
        "alleleId": 289582,
        "preferredName": "NM_153240.5(NPHP3):c.*121_*123del"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/343372",
        "RCV": [
          "RCV000290297",
          "RCV000339489",
          "RCV000377640"
        ],
        "variationId": 343372
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.132400631_132400633del?assembly=hg19",
        "id": "chr3:g.132400631_132400633del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.132681787_132681789del?assembly=hg38",
        "id": "chr3:g.132681787_132681789del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371974858",
        "rs": 371974858
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-132400630-TAGC-T?dataset=gnomad_r2_1",
        "id": "3-132400630-TAGC-T",
        "variant": "3:132400630 TAGC / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-132681786-TAGC-T?dataset=gnomad_r3",
        "id": "3-132681786-TAGC-T",
        "variant": "3:132681786 TAGC / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-132681786-TAGC-T?dataset=gnomad_r4",
        "id": "3-132681786-TAGC-T",
        "variant": "3:132681786 TAGC / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 132681791,
          "referenceAllele": "CAG",
          "start": 132681788
        }
      ],
      "hgvs": [
        "NC_000003.12:g.132681789_132681791del",
        "CM000665.2:g.132681789_132681791del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 132400635,
          "referenceAllele": "CAG",
          "start": 132400632
        }
      ],
      "hgvs": [
        "NC_000003.11:g.132400633_132400635del",
        "CM000665.1:g.132400633_132400635del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "",
          "end": 133883325,
          "referenceAllele": "CAG",
          "start": 133883322
        }
      ],
      "hgvs": [
        "NC_000003.10:g.133883323_133883325del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 45646,
          "referenceAllele": "TGC",
          "start": 45643
        }
      ],
      "hgvs": [
        "NG_008130.1:g.45644_45646del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000875"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 45646,
          "referenceAllele": "TGC",
          "start": 45643
        }
      ],
      "hgvs": [
        "NG_008130.2:g.45644_45646del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673489"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3710,
          "referenceAllele": "TGC",
          "start": 3707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000684294.1:c.*2042_*2044del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508078.1:n.*2042_*2044del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829250"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4170,
          "referenceAllele": "TGC",
          "start": 4167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000337331.10:c.*121_*123del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338766.5:n.*121_*123del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747646",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337331.10:c.*121_*123del"
          },
          "RefSeq": {
            "hgvs": "NM_153240.5:c.*121_*123del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338766.5:n.*121_*123del"
          },
          "RefSeq": {
            "hgvs": "NP_694972.3:n.*121_*123del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4203,
          "referenceAllele": "TGC",
          "start": 4200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000337331.9:c.*121_*123del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338766.5:n.*121_*123del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260451"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3690,
          "referenceAllele": "TGC",
          "start": 3687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000465756.5:c.*2022_*2024del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419907.1:n.*2022_*2024del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309293"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3995,
          "endIntronDirection": "+",
          "endIntronOffset": 127,
          "referenceAllele": "TGC",
          "start": 3995,
          "startIntronDirection": "+",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048351",
      "geneNCBI_id": 100532724,
      "geneSymbol": "NPHP3-ACAD11",
      "hgvs": [
        "ENST00000471702.2:c.*1980+125_*1980+127del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419763.1:n.*1980+125_*1980+127del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313838"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3315,
          "referenceAllele": "TGC",
          "start": 3312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000474871.5:n.3313_3315del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316277"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4841,
          "referenceAllele": "TGC",
          "start": 4838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000490993.5:n.4839_4841del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328697"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1428,
          "referenceAllele": "TGC",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000493732.5:n.1426_1428del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330822"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 562,
          "referenceAllele": "TGC",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000512094.5:c.560_562del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427666.1:n.560_562del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 636,
          "endIntronDirection": "+",
          "endIntronOffset": 127,
          "referenceAllele": "TGC",
          "start": 636,
          "startIntronDirection": "+",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048351",
      "geneNCBI_id": 100532724,
      "geneSymbol": "NPHP3-ACAD11",
      "hgvs": [
        "ENST00000632629.1:c.636+125_636+127del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407595"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4220,
          "referenceAllele": "TGC",
          "start": 4217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "NM_153240.4:c.*121_*123del"
      ],
      "proteinEffect": {
        "hgvs": "NP_694972.3:n.*121_*123del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042299"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3995,
          "endIntronDirection": "+",
          "endIntronOffset": 127,
          "referenceAllele": "TGC",
          "start": 3995,
          "startIntronDirection": "+",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048351",
      "geneNCBI_id": 100532724,
      "geneSymbol": "NPHP3-ACAD11",
      "hgvs": [
        "NR_037804.1:n.3995+125_3995+127del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050126"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4170,
          "referenceAllele": "TGC",
          "start": 4167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "NM_153240.5:c.*121_*123del"
      ],
      "proteinEffect": {
        "hgvs": "NP_694972.3:n.*121_*123del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337331.10:c.*121_*123del"
          },
          "RefSeq": {
            "hgvs": "NM_153240.5:c.*121_*123del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338766.5:n.*121_*123del"
          },
          "RefSeq": {
            "hgvs": "NP_694972.3:n.*121_*123del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}