{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118102",
  "communityStandardTitle": [
    "NM_002335.4(LRP5):c.4119dup (p.Lys1374GlnfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21327[alleleid]",
        "alleleId": 21327,
        "preferredName": "NM_002335.4(LRP5):c.4119dup (p.Lys1374fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6288",
        "RCV": [
          "RCV000006668"
        ],
        "variationId": 6288
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68205921dupC?assembly=hg19",
        "id": "chr11:g.68205921dupC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.68438453dupC?assembly=hg38",
        "id": "chr11:g.68438453dupC"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358321",
        "rs": 80358321
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 68438453,
          "referenceAllele": "",
          "start": 68438453
        }
      ],
      "hgvs": [
        "NC_000011.10:g.68438453dup",
        "CM000673.2:g.68438453dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 68205921,
          "referenceAllele": "",
          "start": 68205921
        }
      ],
      "hgvs": [
        "NC_000011.9:g.68205921dup",
        "CM000673.1:g.68205921dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 67962497,
          "referenceAllele": "",
          "start": 67962497
        }
      ],
      "hgvs": [
        "NC_000011.8:g.67962497dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 130814,
          "referenceAllele": "",
          "start": 130814
        }
      ],
      "hgvs": [
        "NG_015835.1:g.130814dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 130814,
          "referenceAllele": "",
          "start": 130814
        }
      ],
      "hgvs": [
        "NG_015835.2:g.130814dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673645"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4243,
          "referenceAllele": "",
          "start": 4243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "ENST00000294304.12:c.4119dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294304.6:p.Lys1374GlnfsTer?",
        "hgvsWellDefined": "ENSP00000294304.6:p.[Lys1374_Ser1380delinsGlnAlaAlaLeuArgArgGln;Ala1382_Ile1394delinsGlyProGlnGlnCysHisArgAlaArgHisTrpHisHisPro;Phe1398_Met1400delinsArgHis;Gly1402_Val1403delinsTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294304.12:c.4119dup"
          },
          "RefSeq": {
            "hgvs": "NM_002335.4:c.4119dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294304.6:p.Lys1374GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_002326.2:p.Lys1374GlnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4225,
          "referenceAllele": "",
          "start": 4225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "ENST00000294304.11:c.4119dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000294304.6:p.Lys1374GlnfsTer?",
        "hgvsWellDefined": "ENSP00000294304.6:p.[Lys1374_Ser1380delinsGlnAlaAlaLeuArgArgGln;Ala1382_Ile1394delinsGlyProGlnGlnCysHisArgAlaArgHisTrpHisHisPro;Phe1398_Met1400delinsArgHis;Gly1402_Val1403delinsTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4172,
          "referenceAllele": "",
          "start": 4172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "ENST00000529993.5:c.*2725dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436652.1:n.*2725dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4247,
          "referenceAllele": "",
          "start": 4247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_001291902.1:c.2376dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278831.1:p.Lys793GlnfsTer?",
        "hgvsWellDefined": "NP_001278831.1:p.[Lys793_Ser799delinsGlnAlaAlaLeuArgArgGln;Ala801_Ile813delinsGlyProGlnGlnCysHisArgAlaArgHisTrpHisHisPro;Phe817_Met819delinsArgHis;Gly821_Val822delinsTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4225,
          "referenceAllele": "",
          "start": 4225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_002335.3:c.4119dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_002326.2:p.Lys1374GlnfsTer?",
        "hgvsWellDefined": "NP_002326.2:p.[Lys1374_Ser1380delinsGlnAlaAlaLeuArgArgGln;Ala1382_Ile1394delinsGlyProGlnGlnCysHisArgAlaArgHisTrpHisHisPro;Phe1398_Met1400delinsArgHis;Gly1402_Val1403delinsTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4220,
          "referenceAllele": "",
          "start": 4220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_005273994.2:c.4119dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274051.1:p.Lys1374GlnfsTer?",
        "hgvsWellDefined": "XP_005274051.1:p.[Lys1374_Ser1380delinsGlnAlaAlaLeuArgArgGln;Ala1382_Ile1394delinsGlyProGlnGlnCysHisArgAlaArgHisTrpHisHisPro;Phe1398_Met1400delinsArgHis;Gly1402_Val1403delinsTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4161,
          "referenceAllele": "",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_011545029.1:c.4146dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543331.1:p.Lys1383GlnfsTer?",
        "hgvsWellDefined": "XP_011543331.1:p.[Lys1383_Ser1389delinsGlnAlaAlaLeuArgArgGln;Ala1391_Ile1403delinsGlyProGlnGlnCysHisArgAlaArgHisTrpHisHisPro;Phe1407_Met1409delinsArgHis;Gly1411_Val1412delinsTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4161,
          "referenceAllele": "",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_011545030.1:c.4146dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543332.1:p.Lys1383GlnfsTer?",
        "hgvsWellDefined": "XP_011543332.1:p.[Lys1383_Ser1389delinsGlnAlaAlaLeuArgArgGln;Ala1391_Ile1403delinsGlyProGlnGlnCysHisArgAlaArgHisTrpHisHisPro;Phe1407_Met1409delinsArgHis;Gly1411_Val1412delinsTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4161,
          "referenceAllele": "",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_011545031.1:c.4146dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543333.1:p.Lys1383GlnfsTer?",
        "hgvsWellDefined": "XP_011543333.1:p.[Lys1383_Ser1389delinsGlnAlaAlaLeuArgArgGln;Ala1391_Ile1403delinsGlyProGlnGlnCysHisArgAlaArgHisTrpHisHisPro;Phe1407_Met1409delinsArgHis;Gly1411_Val1412delinsTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4161,
          "referenceAllele": "",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_949925.1:n.4161dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143245"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4161,
          "referenceAllele": "",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_949926.1:n.4161dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2441,
          "referenceAllele": "",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_017017735.1:c.2376dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873224.1:p.Lys793GlnfsTer?",
        "hgvsWellDefined": "XP_016873224.1:p.[Lys793_Ser799delinsGlnAlaAlaLeuArgArgGln;Ala801_Ile813delinsGlyProGlnGlnCysHisArgAlaArgHisTrpHisHisPro;Phe817_Met819delinsArgHis;Gly821_Val822delinsTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569854"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1824,
          "referenceAllele": "",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XM_017017736.1:c.1659dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873225.1:p.Lys554GlnfsTer?",
        "hgvsWellDefined": "XP_016873225.1:p.[Lys554_Ser560delinsGlnAlaAlaLeuArgArgGln;Ala562_Ile574delinsGlyProGlnGlnCysHisArgAlaArgHisTrpHisHisPro;Phe578_Met580delinsArgHis;Gly582_Val583delinsTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569855"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4161,
          "referenceAllele": "",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_949925.2:n.4161dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4161,
          "referenceAllele": "",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "XR_949926.2:n.4161dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS615427"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4243,
          "referenceAllele": "",
          "start": 4243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_002335.4:c.4119dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_002326.2:p.Lys1374GlnfsTer?",
        "hgvsWellDefined": "NP_002326.2:p.[Lys1374_Ser1380delinsGlnAlaAlaLeuArgArgGln;Ala1382_Ile1394delinsGlyProGlnGlnCysHisArgAlaArgHisTrpHisHisPro;Phe1398_Met1400delinsArgHis;Gly1402_Val1403delinsTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665471",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000294304.12:c.4119dup"
          },
          "RefSeq": {
            "hgvs": "NM_002335.4:c.4119dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000294304.6:p.Lys1374GlnfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_002326.2:p.Lys1374GlnfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4265,
          "referenceAllele": "",
          "start": 4265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NM_001291902.2:c.2376dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278831.1:p.Lys793GlnfsTer?",
        "hgvsWellDefined": "NP_001278831.1:p.[Lys793_Ser799delinsGlnAlaAlaLeuArgArgGln;Ala801_Ile813delinsGlyProGlnGlnCysHisArgAlaArgHisTrpHisHisPro;Phe817_Met819delinsArgHis;Gly821_Val822delinsTrpCys]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682899"
    }
  ],
  "type": "nucleotide"
}