{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041984",
  "communityStandardTitle": [
    "NM_004646.4(NPHS1):c.174del (p.Gly59AlafsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358618[alleleid]",
        "alleleId": 358618,
        "preferredName": "NM_004646.4(NPHS1):c.174del (p.Gly59fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371017",
        "RCV": [
          "RCV000409163"
        ],
        "variationId": 371017
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36342459del?assembly=hg19",
        "id": "chr19:g.36342459del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.35851557del?assembly=hg38",
        "id": "chr19:g.35851557del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516942",
        "rs": 1057516942
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 35851557,
          "referenceAllele": "A",
          "start": 35851556
        }
      ],
      "hgvs": [
        "NC_000019.10:g.35851557del",
        "CM000681.2:g.35851557del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 36342459,
          "referenceAllele": "A",
          "start": 36342458
        }
      ],
      "hgvs": [
        "NC_000019.9:g.36342459del",
        "CM000681.1:g.36342459del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 41034299,
          "referenceAllele": "A",
          "start": 41034298
        }
      ],
      "hgvs": [
        "NC_000019.8:g.41034299del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 22731,
          "referenceAllele": "T",
          "start": 22730
        }
      ],
      "hgvs": [
        "NG_013356.2:g.22731del",
        "LRG_693:g.22731del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002808"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4923,
          "referenceAllele": "A",
          "start": 4922
        }
      ],
      "hgvs": [
        "NG_051206.1:g.4923del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616904"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 841,
          "referenceAllele": "T",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000378910.10:c.174del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368190.4:p.Gly59AlafsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378910.10:c.174del"
          },
          "RefSeq": {
            "hgvs": "NM_004646.4:c.174del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368190.4:p.Gly59AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_004637.1:p.Gly59AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 175,
          "referenceAllele": "T",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000353632.6:c.174del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343634.5:p.Gly59AlafsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262984"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 174,
          "referenceAllele": "T",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000378910.9:c.174del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368190.4:p.Gly59AlafsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272252"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 330,
          "referenceAllele": "T",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NM_004646.3:c.174del",
        "LRG_693t1:c.174del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Gly59AlafsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029801"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 841,
          "referenceAllele": "T",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NM_004646.4:c.174del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Gly59AlafsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378910.10:c.174del"
          },
          "RefSeq": {
            "hgvs": "NM_004646.4:c.174del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368190.4:p.Gly59AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_004637.1:p.Gly59AlafsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}