{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343339",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.1206dup (p.Ile403TyrfsTer5)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47628[alleleid]",
        "alleleId": 47628,
        "preferredName": "NM_024312.5(GNPTAB):c.1206dup (p.Ile403fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39025",
        "RCV": [
          "RCV000032290"
        ],
        "variationId": 39025
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102163877dupA?assembly=hg19",
        "id": "chr12:g.102163877dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102163876_102163877insA?assembly=hg19",
        "id": "chr12:g.102163876_102163877insA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101770099dupA?assembly=hg38",
        "id": "chr12:g.101770099dupA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101770098_101770099insA?assembly=hg38",
        "id": "chr12:g.101770098_101770099insA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281864972",
        "rs": 281864972
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 101770101,
          "referenceAllele": "",
          "start": 101770101
        }
      ],
      "hgvs": [
        "NC_000012.12:g.101770101dup",
        "CM000674.2:g.101770101dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 102163879,
          "referenceAllele": "",
          "start": 102163879
        }
      ],
      "hgvs": [
        "NC_000012.11:g.102163879dup",
        "CM000674.1:g.102163879dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 100688010,
          "referenceAllele": "",
          "start": 100688010
        }
      ],
      "hgvs": [
        "NC_000012.10:g.100688010dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65769,
          "referenceAllele": "",
          "start": 65769
        }
      ],
      "hgvs": [
        "NG_021243.1:g.65769dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003506"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1490,
          "referenceAllele": "",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.12:c.1206dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Ile403TyrfsTer5",
        "hgvsWellDefined": "ENSP00000299314.7:p.[Ile403del;Asn406_Trp416del;Asp418_Ser424del;Gly426_Thr432del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1206dup"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1206dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Ile403TyrfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Ile403TyrfsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1469,
          "referenceAllele": "",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000299314.11:c.1206dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299314.7:p.Ile403TyrfsTer5",
        "hgvsWellDefined": "ENSP00000299314.7:p.[Ile403del;Asn406_Trp416del;Asp418_Ser424del;Gly426_Thr432del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "ENST00000549940.5:c.1206dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449150.1:p.Ile403TyrfsTer5",
        "hgvsWellDefined": "ENSP00000449150.1:p.[Ile403del;Asn406_Trp416del;Asp418_Ser424del;Gly426_Thr432del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.4:c.1206dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Ile403TyrfsTer5",
        "hgvsWellDefined": "NP_077288.2:p.[Ile403del;Asn406_Trp416del;Asp418_Ser424del;Gly426_Thr432del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1393,
          "referenceAllele": "",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.2:c.1206dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Ile403TyrfsTer5",
        "hgvsWellDefined": "XP_006719656.1:p.[Ile403del;Asn406_Trp416del;Asp418_Ser424del;Gly426_Thr432del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1939,
          "referenceAllele": "",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.1:c.1125dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Ile376TyrfsTer5",
        "hgvsWellDefined": "XP_011537033.1:p.[Ile376del;Asn379_Trp389del;Asp391_Ser397del;Gly399_Thr405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_006719593.3:c.1206dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719656.1:p.Ile403TyrfsTer5",
        "hgvsWellDefined": "XP_006719656.1:p.[Ile403del;Asn406_Trp416del;Asp418_Ser424del;Gly426_Thr432del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1394,
          "referenceAllele": "",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_011538731.2:c.1125dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537033.1:p.Ile376TyrfsTer5",
        "hgvsWellDefined": "XP_011537033.1:p.[Ile376del;Asn379_Trp389del;Asp391_Ser397del;Gly399_Thr405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1295,
          "referenceAllele": "",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019961.1:c.990dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Ile331TyrfsTer5",
        "hgvsWellDefined": "XP_016875450.1:p.[Ile331del;Asn334_Trp344del;Asp346_Ser352del;Gly354_Thr360del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.-22dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:n.-22dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1490,
          "referenceAllele": "",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.1206dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Ile403TyrfsTer5",
        "hgvsWellDefined": "NP_077288.2:p.[Ile403del;Asn406_Trp416del;Asp418_Ser424del;Gly426_Thr432del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.1206dup"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.1206dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Ile403TyrfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Ile403TyrfsTer5"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}