{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040670",
  "communityStandardTitle": [
    "NM_014625.4(NPHS2):c.369del (p.Cys124AlafsTer2)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357004[alleleid]",
        "alleleId": 357004,
        "preferredName": "NM_014625.4(NPHS2):c.369del (p.Cys124fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370315",
        "RCV": [
          "RCV000412170"
        ],
        "variationId": 370315
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.179533834del?assembly=hg19",
        "id": "chr1:g.179533834del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.179564699del?assembly=hg38",
        "id": "chr1:g.179564699del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516395",
        "rs": 1057516395
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 179564699,
          "referenceAllele": "G",
          "start": 179564698
        }
      ],
      "hgvs": [
        "NC_000001.11:g.179564699del",
        "CM000663.2:g.179564699del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 179533834,
          "referenceAllele": "G",
          "start": 179533833
        }
      ],
      "hgvs": [
        "NC_000001.10:g.179533834del",
        "CM000663.1:g.179533834del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 177800457,
          "referenceAllele": "G",
          "start": 177800456
        }
      ],
      "hgvs": [
        "NC_000001.9:g.177800457del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 16251,
          "referenceAllele": "C",
          "start": 16250
        }
      ],
      "hgvs": [
        "NG_007535.1:g.16251del",
        "LRG_887:g.16251del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000639"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367615.9:c.369del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356587.4:p.Cys124AlafsTer2",
        "hgvsWellDefined": "ENSP00000356587.4:p.[Cys124_Arg146del;Lys148_Phe153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750052",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367615.9:c.369del"
          },
          "RefSeq": {
            "hgvs": "NM_014625.4:c.369del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356587.4:p.Cys124AlafsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_055440.1:p.Cys124AlafsTer2"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367615.8:c.369del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356587.4:p.Cys124AlafsTer2",
        "hgvsWellDefined": "ENSP00000356587.4:p.[Cys124_Arg146del;Lys148_Phe153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266493"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367616.4:c.369del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356588.4:p.Cys124AlafsTer2",
        "hgvsWellDefined": "ENSP00000356588.4:p.[Cys124_Arg146del;Lys148_Phe153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266494"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_001297575.1:c.369del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284504.1:p.Cys124AlafsTer2",
        "hgvsWellDefined": "NP_001284504.1:p.[Cys124_Arg146del;Lys148_Phe153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024641"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_014625.3:c.369del",
        "LRG_887t1:c.369del"
      ],
      "proteinEffect": {
        "hgvs": "NP_055440.1:p.Cys124AlafsTer2",
        "hgvsWellDefined": "NP_055440.1:p.[Cys124_Arg146del;Lys148_Phe153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033317"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 382,
          "endIntronDirection": "-",
          "endIntronOffset": 4937,
          "referenceAllele": "C",
          "start": 382,
          "startIntronDirection": "-",
          "startIntronOffset": 4938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_005245483.2:c.275-4938del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245540.1:n.275-4938del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057242"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 481,
          "referenceAllele": "C",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_006711529.2:c.369del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711592.1:p.Cys124AlafsTer2",
        "hgvsWellDefined": "XP_006711592.1:p.[Cys124_Arg146del;Lys148_Phe153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069170"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 384,
          "endIntronDirection": "-",
          "endIntronOffset": 4937,
          "referenceAllele": "C",
          "start": 384,
          "startIntronDirection": "-",
          "startIntronOffset": 4938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_005245483.3:c.275-4938del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245540.1:n.275-4938del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532435"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_017002298.1:c.369del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857787.1:p.Cys124AlafsTer2",
        "hgvsWellDefined": "XP_016857787.1:p.[Cys124_Pro133del;Trp135_Met153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558277"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_017002299.1:c.369del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857788.1:p.Cys124AlafsTer2",
        "hgvsWellDefined": "XP_016857788.1:p.[Cys124_Arg146del;Lys148_Phe153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558278"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_001297575.2:c.369del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284504.1:p.Cys124AlafsTer2",
        "hgvsWellDefined": "NP_001284504.1:p.[Cys124_Arg146del;Lys148_Phe153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683058"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_014625.4:c.369del"
      ],
      "proteinEffect": {
        "hgvs": "NP_055440.1:p.Cys124AlafsTer2",
        "hgvsWellDefined": "NP_055440.1:p.[Cys124_Arg146del;Lys148_Phe153del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697299",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367615.9:c.369del"
          },
          "RefSeq": {
            "hgvs": "NM_014625.4:c.369del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356587.4:p.Cys124AlafsTer2"
          },
          "RefSeq": {
            "hgvs": "NP_055440.1:p.Cys124AlafsTer2"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}