{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9924175",
  "communityStandardTitle": [
    "NM_004738.5(VAPB):c.114_118del (p.Asn39ValfsTer3)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1785930[alleleid]",
        "alleleId": 1785930,
        "preferredName": "NM_004738.5(VAPB):c.114_118del (p.Asn39fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1730942",
        "RCV": [
          "RCV002451951",
          "RCV003775608"
        ],
        "variationId": 1730942
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/20-56993320-CGAAAT-C",
        "id": "20-56993320-CGAAAT-C",
        "variant": "20:56993320 CGAAAT / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.56993321_56993325del?assembly=hg19",
        "id": "chr20:g.56993321_56993325del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.58418265_58418269del?assembly=hg38",
        "id": "chr20:g.58418265_58418269del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/745902026",
        "rs": 745902026
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-56993320-CGAAAT-C?dataset=gnomad_r2_1",
        "id": "20-56993320-CGAAAT-C",
        "variant": "20:56993320 CGAAAT / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-58418264-CGAAAT-C?dataset=gnomad_r4",
        "id": "20-58418264-CGAAAT-C",
        "variant": "20:58418264 CGAAAT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 58418270,
          "referenceAllele": "AAATG",
          "start": 58418265
        }
      ],
      "hgvs": [
        "NC_000020.11:g.58418266_58418270del",
        "CM000682.2:g.58418266_58418270del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 56993326,
          "referenceAllele": "AAATG",
          "start": 56993321
        }
      ],
      "hgvs": [
        "NC_000020.10:g.56993322_56993326del",
        "CM000682.1:g.56993322_56993326del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "",
          "end": 56426732,
          "referenceAllele": "AAATG",
          "start": 56426727
        }
      ],
      "hgvs": [
        "NC_000020.9:g.56426728_56426732del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 34082,
          "referenceAllele": "AAATG",
          "start": 34077
        }
      ],
      "hgvs": [
        "NG_008073.2:g.34078_34082del",
        "LRG_656:g.34078_34082del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000818"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 349,
          "referenceAllele": "AAATG",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000475243.6:c.114_118del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417175.1:p.Asn39ValfsTer3",
        "hgvsWellDefined": "ENSP00000417175.1:p.[Asn39del;Cys41del;Lys43_Val69del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757143",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000475243.6:c.114_118del"
          },
          "RefSeq": {
            "hgvs": "NM_004738.5:c.114_118del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417175.1:p.Asn39ValfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_004729.1:p.Asn39ValfsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 416,
          "referenceAllele": "AAATG",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000265619.6:n.412_416del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS251782"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 265,
          "referenceAllele": "AAATG",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000395802.7:c.114_118del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379147.3:p.Asn39ValfsTer3",
        "hgvsWellDefined": "ENSP00000379147.3:p.[Asn39del;Cys41del;Lys43_Val69del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276914"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 456,
          "referenceAllele": "AAATG",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000475243.5:c.114_118del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417175.1:p.Asn39ValfsTer3",
        "hgvsWellDefined": "ENSP00000417175.1:p.[Asn39del;Cys41del;Lys43_Val69del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316566"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 212,
          "referenceAllele": "AAATG",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "ENST00000520497.1:c.114_118del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430426.1:p.Asn39ValfsTer3",
        "hgvsWellDefined": "ENSP00000430426.1:p.[Asn39del;Cys41del;Lys43_Val69del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347526"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 459,
          "referenceAllele": "AAATG",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_001195677.1:c.114_118del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182606.1:p.Asn39ValfsTer3",
        "hgvsWellDefined": "NP_001182606.1:p.[Asn39del;Cys41del;Lys43_Val69del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016656"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 459,
          "referenceAllele": "AAATG",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_004738.4:c.114_118del",
        "LRG_656t1:c.114_118del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004729.1:p.Asn39ValfsTer3",
        "hgvsWellDefined": "NP_004729.1:p.[Asn39del;Cys41del;Lys43_Val69del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029887"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 459,
          "referenceAllele": "AAATG",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NR_036633.1:n.455_459del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049821"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 367,
          "referenceAllele": "AAATG",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "XR_001754433.2:n.363_367del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600573"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 349,
          "referenceAllele": "AAATG",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_001195677.2:c.114_118del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182606.1:p.Asn39ValfsTer3",
        "hgvsWellDefined": "NP_001182606.1:p.[Asn39del;Cys41del;Lys43_Val69del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679333"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 349,
          "referenceAllele": "AAATG",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NM_004738.5:c.114_118del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004729.1:p.Asn39ValfsTer3",
        "hgvsWellDefined": "NP_004729.1:p.[Asn39del;Cys41del;Lys43_Val69del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696224",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000475243.6:c.114_118del"
          },
          "RefSeq": {
            "hgvs": "NM_004738.5:c.114_118del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417175.1:p.Asn39ValfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_004729.1:p.Asn39ValfsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 349,
          "referenceAllele": "AAATG",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012649",
      "geneNCBI_id": 9217,
      "geneSymbol": "VAPB",
      "hgvs": [
        "NR_036633.2:n.345_349del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702227"
    }
  ],
  "type": "nucleotide"
}