{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041165",
  "communityStandardTitle": [
    "NM_000466.3(PEX1):c.1527del (p.Glu510LysfsTer9)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357612[alleleid]",
        "alleleId": 357612,
        "preferredName": "NM_000466.3(PEX1):c.1527del (p.Glu510fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371739",
        "RCV": [
          "RCV000411168",
          "RCV000412257"
        ],
        "variationId": 371739
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92140318del?assembly=hg19",
        "id": "chr7:g.92140318del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.92511004del?assembly=hg38",
        "id": "chr7:g.92511004del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517497",
        "rs": 1057517497
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-92511003-CT-C?dataset=gnomad_r4",
        "id": "7-92511003-CT-C",
        "variant": "7:92511003 CT / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 92511008,
          "referenceAllele": "T",
          "start": 92511007
        }
      ],
      "hgvs": [
        "NC_000007.14:g.92511008del",
        "CM000669.2:g.92511008del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 92140322,
          "referenceAllele": "T",
          "start": 92140321
        }
      ],
      "hgvs": [
        "NC_000007.13:g.92140322del",
        "CM000669.1:g.92140322del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "",
          "end": 91978258,
          "referenceAllele": "T",
          "start": 91978257
        }
      ],
      "hgvs": [
        "NC_000007.12:g.91978258del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 22528,
          "referenceAllele": "A",
          "start": 22527
        }
      ],
      "hgvs": [
        "NG_008341.1:g.22528del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001042"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 22528,
          "referenceAllele": "A",
          "start": 22527
        }
      ],
      "hgvs": [
        "NG_008341.2:g.22528del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673501"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1612,
          "referenceAllele": "A",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.9:c.1527del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Glu510LysfsTer9",
        "hgvsWellDefined": "ENSP00000248633.4:p.[Glu510del;Asp512del;Asn514del;Phe516_Gln524del;Thr526_Thr527del;Gln529_Glu539delinsPhePheCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.1527del"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.1527del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Glu510LysfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Glu510LysfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1623,
          "referenceAllele": "A",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000248633.8:c.1527del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000248633.4:p.Glu510LysfsTer9",
        "hgvsWellDefined": "ENSP00000248633.4:p.[Glu510del;Asp512del;Asn514del;Phe516_Gln524del;Thr526_Thr527del;Gln529_Glu539delinsPhePheCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249574"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000422866.1:c.428del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS287476"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1527,
          "referenceAllele": "A",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000428214.5:c.1527del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394413.1:p.Glu510LysfsTer9",
        "hgvsWellDefined": "ENSP00000394413.1:p.[Glu510del;Asp512del;Asn514del;Phe516_Gln524del;Thr526_Thr527del;Gln529_Glu539delinsPhePheCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290087"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 567,
          "referenceAllele": "A",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000438045.5:c.561del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410438.1:p.Glu188LysfsTer9",
        "hgvsWellDefined": "ENSP00000410438.1:p.[Glu188del;Asp190del;Asn192del;Phe194_Gln202del;Thr204_Thr205del;Gln207_Glu217delinsPhePheCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 288,
          "referenceAllele": "A",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000476923.1:n.288del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317859"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1566,
          "referenceAllele": "A",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "ENST00000484913.5:n.1566del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324059"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1623,
          "referenceAllele": "A",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.2:c.1527del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Glu510LysfsTer9",
        "hgvsWellDefined": "NP_000457.1:p.[Glu510del;Asp512del;Asn514del;Phe516_Gln524del;Thr526_Thr527del;Gln529_Glu539delinsPhePheCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006527"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1623,
          "referenceAllele": "A",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.1:c.1527del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Glu510LysfsTer9",
        "hgvsWellDefined": "NP_001269606.1:p.[Glu510del;Asp512del;Asn514del;Phe516_Gln524del;Thr526_Thr527del;Gln529_Glu539delinsPhePheCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022148"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1658,
          "referenceAllele": "A",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.1:c.903del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Glu302LysfsTer9",
        "hgvsWellDefined": "NP_001269607.1:p.[Glu302del;Asp304del;Asn306del;Phe308_Gln316del;Thr318_Thr319del;Gln321_Glu331delinsPhePheCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022149"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 242,
          "referenceAllele": "A",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_005250433.3:c.-140del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250490.1:n.-140del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059168"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1623,
          "referenceAllele": "A",
          "start": 1622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.3:n.1623del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116232"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 637,
          "referenceAllele": "A",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XM_017012319.2:c.-140del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867808.1:n.-140del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565949"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 637,
          "referenceAllele": "A",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_001744808.2:n.637del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593459"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1574,
          "referenceAllele": "A",
          "start": 1573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "XR_242246.5:n.1574del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605897"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1612,
          "referenceAllele": "A",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_000466.3:c.1527del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000457.1:p.Glu510LysfsTer9",
        "hgvsWellDefined": "NP_000457.1:p.[Glu510del;Asp512del;Asn514del;Phe516_Gln524del;Thr526_Thr527del;Gln529_Glu539delinsPhePheCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000248633.9:c.1527del"
          },
          "RefSeq": {
            "hgvs": "NM_000466.3:c.1527del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000248633.4:p.Glu510LysfsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_000457.1:p.Glu510LysfsTer9"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1612,
          "referenceAllele": "A",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282677.2:c.1527del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269606.1:p.Glu510LysfsTer9",
        "hgvsWellDefined": "NP_001269606.1:p.[Glu510del;Asp512del;Asn514del;Phe516_Gln524del;Thr526_Thr527del;Gln529_Glu539delinsPhePheCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681861"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1647,
          "referenceAllele": "A",
          "start": 1646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NM_001282678.2:c.903del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269607.1:p.Glu302LysfsTer9",
        "hgvsWellDefined": "NP_001269607.1:p.[Glu302del;Asp304del;Asn306del;Phe308_Gln316del;Thr318_Thr319del;Gln321_Glu331delinsPhePheCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}