{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250113",
  "communityStandardTitle": [
    "NM_004646.4(NPHS1):c.1275del (p.Lys426ArgfsTer10)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=71073[alleleid]",
        "alleleId": 71073,
        "preferredName": "NM_004646.4(NPHS1):c.1275del (p.Lys426fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56434",
        "RCV": [
          "RCV000049847"
        ],
        "variationId": 56434
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36339195del?assembly=hg19",
        "id": "chr19:g.36339195del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.35848293del?assembly=hg38",
        "id": "chr19:g.35848293del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/386833876",
        "rs": 386833876
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 35848294,
          "referenceAllele": "G",
          "start": 35848293
        }
      ],
      "hgvs": [
        "NC_000019.10:g.35848294del",
        "CM000681.2:g.35848294del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 36339196,
          "referenceAllele": "G",
          "start": 36339195
        }
      ],
      "hgvs": [
        "NC_000019.9:g.36339196del",
        "CM000681.1:g.36339196del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 41031036,
          "referenceAllele": "G",
          "start": 41031035
        }
      ],
      "hgvs": [
        "NC_000019.8:g.41031036del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 25995,
          "referenceAllele": "C",
          "start": 25994
        }
      ],
      "hgvs": [
        "NG_013356.2:g.25995del",
        "LRG_693:g.25995del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002808"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1660,
          "referenceAllele": "G",
          "start": 1659
        }
      ],
      "hgvs": [
        "NG_051206.1:g.1660del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616904"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1942,
          "referenceAllele": "C",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000378910.10:c.1275del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368190.4:p.Lys426ArgfsTer10",
        "hgvsWellDefined": "ENSP00000368190.4:p.[Lys426_Lys431delinsArgArgProSerArg;Leu433_Leu455delinsArgSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378910.10:c.1275del"
          },
          "RefSeq": {
            "hgvs": "NM_004646.4:c.1275del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368190.4:p.Lys426ArgfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_004637.1:p.Lys426ArgfsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1276,
          "referenceAllele": "C",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000353632.6:c.1275del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343634.5:p.Lys426ArgfsTer10",
        "hgvsWellDefined": "ENSP00000343634.5:p.[Lys426_Lys431delinsArgArgProSerArg;Leu433_Leu455delinsArgSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262984"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1275,
          "referenceAllele": "C",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000378910.9:c.1275del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368190.4:p.Lys426ArgfsTer10",
        "hgvsWellDefined": "ENSP00000368190.4:p.[Lys426_Lys431delinsArgArgProSerArg;Leu433_Leu455delinsArgSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272252"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000592132.1:n.282del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393347"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1431,
          "referenceAllele": "C",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NM_004646.3:c.1275del",
        "LRG_693t1:c.1275del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Lys426ArgfsTer10",
        "hgvsWellDefined": "NP_004637.1:p.[Lys426_Lys431delinsArgArgProSerArg;Leu433_Leu455delinsArgSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029801"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1942,
          "referenceAllele": "C",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NM_004646.4:c.1275del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Lys426ArgfsTer10",
        "hgvsWellDefined": "NP_004637.1:p.[Lys426_Lys431delinsArgArgProSerArg;Leu433_Leu455delinsArgSerSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378910.10:c.1275del"
          },
          "RefSeq": {
            "hgvs": "NM_004646.4:c.1275del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368190.4:p.Lys426ArgfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_004637.1:p.Lys426ArgfsTer10"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}