{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2739272430",
  "communityStandardTitle": [
    "NM_000147.5(FUCA1):c.460_475del (p.Asn154GlyfsTer28)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3070272[alleleid]",
        "alleleId": 3070272,
        "preferredName": "NM_000147.5(FUCA1):c.460_475del (p.Asn154fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2910847",
        "RCV": [
          "RCV003598682"
        ],
        "variationId": 2910847
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2521745475",
        "rs": 2521745475
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 23865558,
          "referenceAllele": "CGTCTTTGGAGTTCCA",
          "start": 23865542
        }
      ],
      "hgvs": [
        "NC_000001.11:g.23865543_23865558del",
        "CM000663.2:g.23865543_23865558del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 24192048,
          "referenceAllele": "CGTCTTTGGAGTTCCA",
          "start": 24192032
        }
      ],
      "hgvs": [
        "NC_000001.10:g.24192033_24192048del",
        "CM000663.1:g.24192033_24192048del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 24064635,
          "referenceAllele": "CGTCTTTGGAGTTCCA",
          "start": 24064619
        }
      ],
      "hgvs": [
        "NC_000001.9:g.24064620_24064635del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7830,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 7814
        }
      ],
      "hgvs": [
        "NG_013346.1:g.7815_7830del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002798"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 479,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004006",
      "geneNCBI_id": 2517,
      "geneSymbol": "FUCA1",
      "hgvs": [
        "ENST00000374479.4:c.460_475del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363603.3:p.Asn154GlyfsTer28",
        "hgvsWellDefined": "ENSP00000363603.3:p.[Asn154_Val158delinsGlyLeuIle;Pro160_Asp163delinsIleTrp;Gly166_Leu172delinsAsnTrpGluGlnLeuSerGly;Lys174_Tyr182delinsGlyThrSerAlaMetAspTyrThrThr;Leu185_Trp188del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751445",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374479.4:c.460_475del"
          },
          "RefSeq": {
            "hgvs": "NM_000147.5:c.460_475del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363603.3:p.Asn154GlyfsTer28"
          },
          "RefSeq": {
            "hgvs": "NP_000138.2:p.Asn154GlyfsTer28"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 483,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004006",
      "geneNCBI_id": 2517,
      "geneSymbol": "FUCA1",
      "hgvs": [
        "ENST00000374479.3:c.460_475del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363603.3:p.Asn154GlyfsTer28",
        "hgvsWellDefined": "ENSP00000363603.3:p.[Asn154_Val158delinsGlyLeuIle;Pro160_Asp163delinsIleTrp;Gly166_Leu172delinsAsnTrpGluGlnLeuSerGly;Lys174_Tyr182delinsGlyThrSerAlaMetAspTyrThrThr;Leu185_Trp188del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270265"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 558,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004006",
      "geneNCBI_id": 2517,
      "geneSymbol": "FUCA1",
      "hgvs": [
        "NM_000147.4:c.460_475del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000138.2:p.Asn154GlyfsTer28",
        "hgvsWellDefined": "NP_000138.2:p.[Asn154_Val158delinsGlyLeuIle;Pro160_Asp163delinsIleTrp;Gly166_Leu172delinsAsnTrpGluGlnLeuSerGly;Lys174_Tyr182delinsGlyThrSerAlaMetAspTyrThrThr;Leu185_Trp188del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006209"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 653,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004006",
      "geneNCBI_id": 2517,
      "geneSymbol": "FUCA1",
      "hgvs": [
        "XM_005245821.1:c.85_100del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245878.1:p.Asn29GlyfsTer28",
        "hgvsWellDefined": "XP_005245878.1:p.[Asn29_Val33delinsGlyLeuIle;Pro35_Asp38delinsIleTrp;Gly41_Leu47delinsAsnTrpGluGlnLeuSerGly;Lys49_Tyr57delinsGlyThrSerAlaMetAspTyrThrThr;Leu60_Trp63del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057391"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 143,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004006",
      "geneNCBI_id": 2517,
      "geneSymbol": "FUCA1",
      "hgvs": [
        "XM_011541167.1:c.-174_-159del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539469.1:n.-174_-159del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108110"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 695,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004006",
      "geneNCBI_id": 2517,
      "geneSymbol": "FUCA1",
      "hgvs": [
        "XM_005245821.3:c.85_100del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245878.1:p.Asn29GlyfsTer28",
        "hgvsWellDefined": "XP_005245878.1:p.[Asn29_Val33delinsGlyLeuIle;Pro35_Asp38delinsIleTrp;Gly41_Leu47delinsAsnTrpGluGlnLeuSerGly;Lys49_Tyr57delinsGlyThrSerAlaMetAspTyrThrThr;Leu60_Trp63del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532510"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 143,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004006",
      "geneNCBI_id": 2517,
      "geneSymbol": "FUCA1",
      "hgvs": [
        "XM_011541167.3:c.-174_-159del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539469.1:n.-174_-159del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554334"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1107,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004006",
      "geneNCBI_id": 2517,
      "geneSymbol": "FUCA1",
      "hgvs": [
        "XM_017000905.2:c.157_172del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856394.1:p.Asn53GlyfsTer28",
        "hgvsWellDefined": "XP_016856394.1:p.[Asn53_Val57delinsGlyLeuIle;Pro59_Asp62delinsIleTrp;Gly65_Leu71delinsAsnTrpGluGlnLeuSerGly;Lys73_Tyr81delinsGlyThrSerAlaMetAspTyrThrThr;Leu84_Trp87del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557173"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 479,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004006",
      "geneNCBI_id": 2517,
      "geneSymbol": "FUCA1",
      "hgvs": [
        "NM_000147.5:c.460_475del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000138.2:p.Asn154GlyfsTer28",
        "hgvsWellDefined": "NP_000138.2:p.[Asn154_Val158delinsGlyLeuIle;Pro160_Asp163delinsIleTrp;Gly166_Leu172delinsAsnTrpGluGlnLeuSerGly;Lys174_Tyr182delinsGlyThrSerAlaMetAspTyrThrThr;Leu185_Trp188del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710803",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374479.4:c.460_475del"
          },
          "RefSeq": {
            "hgvs": "NM_000147.5:c.460_475del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363603.3:p.Asn154GlyfsTer28"
          },
          "RefSeq": {
            "hgvs": "NP_000138.2:p.Asn154GlyfsTer28"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 653,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004006",
      "geneNCBI_id": 2517,
      "geneSymbol": "FUCA1",
      "hgvs": [
        "NR_174379.1:n.638_653del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784831"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 702,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004006",
      "geneNCBI_id": 2517,
      "geneSymbol": "FUCA1",
      "hgvs": [
        "NR_174380.1:n.687_702del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 541,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004006",
      "geneNCBI_id": 2517,
      "geneSymbol": "FUCA1",
      "hgvs": [
        "NR_174381.1:n.526_541del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784833"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 938,
          "referenceAllele": "TCCAAAGACGTGGAAC",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004006",
      "geneNCBI_id": 2517,
      "geneSymbol": "FUCA1",
      "hgvs": [
        "NR_174382.1:n.923_938del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS784834"
    }
  ],
  "type": "nucleotide"
}