{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16040671",
  "communityStandardTitle": [
    "NM_014625.4(NPHS2):c.138_142dup (p.Ser48TrpfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357005[alleleid]",
        "alleleId": 357005,
        "preferredName": "NM_014625.4(NPHS2):c.138_142dup (p.Ser48fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370759",
        "RCV": [
          "RCV000411511"
        ],
        "variationId": 370759
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.179544858_179544862dupAGCCC?assembly=hg19",
        "id": "chr1:g.179544858_179544862dupAGCCC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.179544857_179544858insAGCCC?assembly=hg19",
        "id": "chr1:g.179544857_179544858insAGCCC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.179575723_179575727dupAGCCC?assembly=hg38",
        "id": "chr1:g.179575723_179575727dupAGCCC"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.179575722_179575723insAGCCC?assembly=hg38",
        "id": "chr1:g.179575722_179575723insAGCCC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516747",
        "rs": 1057516747
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-179575722-G-GAGCCC?dataset=gnomad_r3",
        "id": "1-179575722-G-GAGCCC",
        "variant": "1:179575722 G / GAGCCC"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-179575722-G-GAGCCC?dataset=gnomad_r4",
        "id": "1-179575722-G-GAGCCC",
        "variant": "1:179575722 G / GAGCCC"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "AGCCC",
          "end": 179575727,
          "referenceAllele": "",
          "start": 179575727
        }
      ],
      "hgvs": [
        "NC_000001.11:g.179575723_179575727dup",
        "CM000663.2:g.179575723_179575727dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "AGCCC",
          "end": 179544862,
          "referenceAllele": "",
          "start": 179544862
        }
      ],
      "hgvs": [
        "NC_000001.10:g.179544858_179544862dup",
        "CM000663.1:g.179544858_179544862dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "AGCCC",
          "end": 177811485,
          "referenceAllele": "",
          "start": 177811485
        }
      ],
      "hgvs": [
        "NC_000001.9:g.177811481_177811485dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCT",
          "end": 5227,
          "referenceAllele": "",
          "start": 5227
        }
      ],
      "hgvs": [
        "NG_007535.1:g.5223_5227dup",
        "LRG_887:g.5223_5227dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000639"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GGGCT",
          "end": 226,
          "referenceAllele": "",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367615.9:c.138_142dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356587.4:p.Ser48TrpfsTer?",
        "hgvsWellDefined": "ENSP00000356587.4:p.[Ser48_Ala51delinsTrpAlaProAsp;Thr53delinsArgGly;Pro54_Gly55insArg;Glu56Ser;Arg58_Ala59delinsGluArg;Ala61_Gly77delinsProProArgTrpTrpThrTrpMetArgSerGluAlaProAlaArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750052",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367615.9:c.138_142dup"
          },
          "RefSeq": {
            "hgvs": "NM_014625.4:c.138_142dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356587.4:p.Ser48TrpfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_055440.1:p.Ser48TrpfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GGGCT",
          "end": 211,
          "referenceAllele": "",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367615.8:c.138_142dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356587.4:p.Ser48TrpfsTer?",
        "hgvsWellDefined": "ENSP00000356587.4:p.[Ser48_Ala51delinsTrpAlaProAsp;Thr53delinsArgGly;Pro54_Gly55insArg;Glu56Ser;Arg58_Ala59delinsGluArg;Ala61_Gly77delinsProProArgTrpTrpThrTrpMetArgSerGluAlaProAlaArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266493"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCT",
          "end": 230,
          "referenceAllele": "",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "ENST00000367616.4:c.138_142dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356588.4:p.Ser48TrpfsTer?",
        "hgvsWellDefined": "ENSP00000356588.4:p.[Ser48_Ala51delinsTrpAlaProAsp;Thr53delinsArgGly;Pro54_Gly55insArg;Glu56Ser;Arg58_Ala59delinsGluArg;Ala61_Gly77delinsProProArgTrpTrpThrTrpMetArgSerGluAlaProAlaArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266494"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCT",
          "end": 230,
          "referenceAllele": "",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_001297575.1:c.138_142dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284504.1:p.Ser48TrpfsTer?",
        "hgvsWellDefined": "NP_001284504.1:p.[Ser48_Ala51delinsTrpAlaProAsp;Thr53delinsArgGly;Pro54_Gly55insArg;Glu56Ser;Arg58_Ala59delinsGluArg;Ala61_Gly77delinsProProArgTrpTrpThrTrpMetArgSerGluAlaProAlaArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024641"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCT",
          "end": 230,
          "referenceAllele": "",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_014625.3:c.138_142dup",
        "LRG_887t1:c.138_142dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_055440.1:p.Ser48TrpfsTer?",
        "hgvsWellDefined": "NP_055440.1:p.[Ser48_Ala51delinsTrpAlaProAsp;Thr53delinsArgGly;Pro54_Gly55insArg;Glu56Ser;Arg58_Ala59delinsGluArg;Ala61_Gly77delinsProProArgTrpTrpThrTrpMetArgSerGluAlaProAlaArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033317"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCT",
          "end": 250,
          "referenceAllele": "",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_005245483.2:c.138_142dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245540.1:p.Ser48TrpfsTer?",
        "hgvsWellDefined": "XP_005245540.1:p.[Ser48_Ala51delinsTrpAlaProAsp;Thr53delinsArgGly;Pro54_Gly55insArg;Glu56Ser;Arg58_Ala59delinsGluArg;Ala61_Gly77delinsProProArgTrpTrpThrTrpMetArgSerGluAlaProAlaArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057242"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCT",
          "end": 254,
          "referenceAllele": "",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_006711529.2:c.138_142dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006711592.1:p.Ser48TrpfsTer?",
        "hgvsWellDefined": "XP_006711592.1:p.[Ser48_Ala51delinsTrpAlaProAsp;Thr53delinsArgGly;Pro54_Gly55insArg;Glu56Ser;Arg58_Ala59delinsGluArg;Ala61_Gly77delinsProProArgTrpTrpThrTrpMetArgSerGluAlaProAlaArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069170"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCT",
          "end": 252,
          "referenceAllele": "",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_005245483.3:c.138_142dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245540.1:p.Ser48TrpfsTer?",
        "hgvsWellDefined": "XP_005245540.1:p.[Ser48_Ala51delinsTrpAlaProAsp;Thr53delinsArgGly;Pro54_Gly55insArg;Glu56Ser;Arg58_Ala59delinsGluArg;Ala61_Gly77delinsProProArgTrpTrpThrTrpMetArgSerGluAlaProAlaArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532435"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCT",
          "end": 260,
          "referenceAllele": "",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_017002298.1:c.138_142dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857787.1:p.Ser48TrpfsTer?",
        "hgvsWellDefined": "XP_016857787.1:p.[Ser48_Ala51delinsTrpAlaProAsp;Thr53delinsArgGly;Pro54_Gly55insArg;Glu56Ser;Arg58_Ala59delinsGluArg;Ala61_Gly77delinsProProArgTrpTrpThrTrpMetArgSerGluAlaProAlaArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558277"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCT",
          "end": 265,
          "referenceAllele": "",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "XM_017002299.1:c.138_142dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857788.1:p.Ser48TrpfsTer?",
        "hgvsWellDefined": "XP_016857788.1:p.[Ser48_Ala51delinsTrpAlaProAsp;Thr53delinsArgGly;Pro54_Gly55insArg;Glu56Ser;Arg58_Ala59delinsGluArg;Ala61_Gly77delinsProProArgTrpTrpThrTrpMetArgSerGluAlaProAlaArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558278"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCT",
          "end": 226,
          "referenceAllele": "",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_001297575.2:c.138_142dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284504.1:p.Ser48TrpfsTer?",
        "hgvsWellDefined": "NP_001284504.1:p.[Ser48_Ala51delinsTrpAlaProAsp;Thr53delinsArgGly;Pro54_Gly55insArg;Glu56Ser;Arg58_Ala59delinsGluArg;Ala61_Gly77delinsProProArgTrpTrpThrTrpMetArgSerGluAlaProAlaArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683058"
    },
    {
      "coordinates": [
        {
          "allele": "GGGCT",
          "end": 226,
          "referenceAllele": "",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013394",
      "geneNCBI_id": 7827,
      "geneSymbol": "NPHS2",
      "hgvs": [
        "NM_014625.4:c.138_142dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_055440.1:p.Ser48TrpfsTer?",
        "hgvsWellDefined": "NP_055440.1:p.[Ser48_Ala51delinsTrpAlaProAsp;Thr53delinsArgGly;Pro54_Gly55insArg;Glu56Ser;Arg58_Ala59delinsGluArg;Ala61_Gly77delinsProProArgTrpTrpThrTrpMetArgSerGluAlaProAlaArgArgAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697299",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367615.9:c.138_142dup"
          },
          "RefSeq": {
            "hgvs": "NM_014625.4:c.138_142dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356587.4:p.Ser48TrpfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_055440.1:p.Ser48TrpfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}