{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339836",
  "communityStandardTitle": [
    "NM_173500.4(TTBK2):c.1329dup (p.Arg444ThrfsTer7)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15886[alleleid]",
        "alleleId": 15886,
        "preferredName": "NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/847",
        "RCV": [
          "RCV000000895",
          "RCV001818115"
        ],
        "variationId": 847
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43069309dupT?assembly=hg19",
        "id": "chr15:g.43069309dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43069308_43069309insT?assembly=hg19",
        "id": "chr15:g.43069308_43069309insT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42777111dupT?assembly=hg38",
        "id": "chr15:g.42777111dupT"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42777110_42777111insT?assembly=hg38",
        "id": "chr15:g.42777110_42777111insT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356538",
        "rs": 80356538
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 42777111,
          "referenceAllele": "",
          "start": 42777111
        }
      ],
      "hgvs": [
        "NC_000015.10:g.42777111dup",
        "CM000677.2:g.42777111dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 43069309,
          "referenceAllele": "",
          "start": 43069309
        }
      ],
      "hgvs": [
        "NC_000015.9:g.43069309dup",
        "CM000677.1:g.43069309dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 40856601,
          "referenceAllele": "",
          "start": 40856601
        }
      ],
      "hgvs": [
        "NC_000015.8:g.40856601dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148699,
          "referenceAllele": "",
          "start": 148699
        }
      ],
      "hgvs": [
        "NG_012664.1:g.148699dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002512"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1737,
          "referenceAllele": "",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "ENST00000267890.11:c.1329dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267890.6:p.Arg444ThrfsTer7",
        "hgvsWellDefined": "ENSP00000267890.6:p.[Arg444_Ile446delinsThrPhe;Phe449_Glu450delinsGln;Glu452_Lys473del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267890.11:c.1329dup"
          },
          "RefSeq": {
            "hgvs": "NM_173500.4:c.1329dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267890.6:p.Arg444ThrfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_775771.3:p.Arg444ThrfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1438,
          "referenceAllele": "",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "ENST00000267890.10:c.1329dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267890.6:p.Arg444ThrfsTer7",
        "hgvsWellDefined": "ENSP00000267890.6:p.[Arg444_Ile446delinsThrPhe;Phe449_Glu450delinsGln;Glu452_Lys473del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1616,
          "referenceAllele": "",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "ENST00000567274.5:c.1224dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457489.1:p.Arg409ThrfsTer7",
        "hgvsWellDefined": "ENSP00000457489.1:p.[Arg409_Ile411delinsThrPhe;Phe414_Glu415delinsGln;Glu417_Ile438del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1768,
          "referenceAllele": "",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "ENST00000567840.5:c.1329dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455734.1:p.Arg444ThrfsTer7",
        "hgvsWellDefined": "ENSP00000455734.1:p.[Arg444_Ile446delinsThrPhe;Phe449_Glu450delinsGln;Glu452_Ile473del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3042,
          "referenceAllele": "",
          "start": 3042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "ENST00000622375.4:c.2544dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479984.1:p.Arg849ThrfsTer7",
        "hgvsWellDefined": "ENSP00000479984.1:p.[Arg849_Ile851delinsThrPhe;Phe854_Glu855delinsGln;Glu857_Lys878del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1768,
          "referenceAllele": "",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "NM_173500.3:c.1329dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775771.3:p.Arg444ThrfsTer7",
        "hgvsWellDefined": "NP_775771.3:p.[Arg444_Ile446delinsThrPhe;Phe449_Glu450delinsGln;Glu452_Lys473del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1901,
          "referenceAllele": "",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_005254171.3:c.1347dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254228.1:p.Arg450ThrfsTer7",
        "hgvsWellDefined": "XP_005254228.1:p.[Arg450_Ile452delinsThrPhe;Phe455_Glu456delinsGln;Glu458_Lys479del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1617,
          "referenceAllele": "",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_005254173.3:c.1122dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254230.1:p.Arg375ThrfsTer7",
        "hgvsWellDefined": "XP_005254230.1:p.[Arg375_Ile377delinsThrPhe;Phe380_Glu381delinsGln;Glu383_Lys404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1389,
          "referenceAllele": "",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_006720402.2:c.1314dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720465.1:p.Arg439ThrfsTer7",
        "hgvsWellDefined": "XP_006720465.1:p.[Arg439_Ile441delinsThrPhe;Phe444_Glu445delinsGln;Glu447_Lys468del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_006720403.2:c.1122dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720466.1:p.Arg375ThrfsTer7",
        "hgvsWellDefined": "XP_006720466.1:p.[Arg375_Ile377delinsThrPhe;Phe380_Glu381delinsGln;Glu383_Lys404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1391,
          "referenceAllele": "",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_011521267.1:c.1122dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519569.1:p.Arg375ThrfsTer7",
        "hgvsWellDefined": "XP_011519569.1:p.[Arg375_Ile377delinsThrPhe;Phe380_Glu381delinsGln;Glu383_Lys404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1617,
          "referenceAllele": "",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_011521268.1:c.1062dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519570.1:p.Arg355ThrfsTer7",
        "hgvsWellDefined": "XP_011519570.1:p.[Arg355_Ile357delinsThrPhe;Phe360_Glu361delinsGln;Glu363_Lys384del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_011521269.1:c.1050dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519571.1:p.Arg351ThrfsTer7",
        "hgvsWellDefined": "XP_011519571.1:p.[Arg351_Ile353delinsThrPhe;Phe356_Glu357delinsGln;Glu359_Lys380del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "referenceAllele": "",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_005254171.5:c.1347dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254228.1:p.Arg450ThrfsTer7",
        "hgvsWellDefined": "XP_005254228.1:p.[Arg450_Ile452delinsThrPhe;Phe455_Glu456delinsGln;Glu458_Lys479del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534078"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1650,
          "referenceAllele": "",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_005254173.5:c.1122dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254230.1:p.Arg375ThrfsTer7",
        "hgvsWellDefined": "XP_005254230.1:p.[Arg375_Ile377delinsThrPhe;Phe380_Glu381delinsGln;Glu383_Lys404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1377,
          "referenceAllele": "",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_006720402.4:c.1314dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720465.1:p.Arg439ThrfsTer7",
        "hgvsWellDefined": "XP_006720465.1:p.[Arg439_Ile441delinsThrPhe;Phe444_Glu445delinsGln;Glu447_Lys468del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1544,
          "referenceAllele": "",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_006720403.4:c.1122dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720466.1:p.Arg375ThrfsTer7",
        "hgvsWellDefined": "XP_006720466.1:p.[Arg375_Ile377delinsThrPhe;Phe380_Glu381delinsGln;Glu383_Lys404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1393,
          "referenceAllele": "",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_017021950.2:c.1050dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877439.1:p.Arg351ThrfsTer7",
        "hgvsWellDefined": "XP_016877439.1:p.[Arg351_Ile353delinsThrPhe;Phe356_Glu357delinsGln;Glu359_Lys380del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2448,
          "referenceAllele": "",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_024449849.1:c.1329dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305617.1:p.Arg444ThrfsTer7",
        "hgvsWellDefined": "XP_024305617.1:p.[Arg444_Ile446delinsThrPhe;Phe449_Glu450delinsGln;Glu452_Lys473del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1525,
          "referenceAllele": "",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_024449850.1:c.1329dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305618.1:p.Arg444ThrfsTer7",
        "hgvsWellDefined": "XP_024305618.1:p.[Arg444_Ile446delinsThrPhe;Phe449_Glu450delinsGln;Glu452_Lys473del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2935,
          "referenceAllele": "",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_024449851.1:c.1122dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305619.1:p.Arg375ThrfsTer7",
        "hgvsWellDefined": "XP_024305619.1:p.[Arg375_Ile377delinsThrPhe;Phe380_Glu381delinsGln;Glu383_Lys404del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1737,
          "referenceAllele": "",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "NM_173500.4:c.1329dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_775771.3:p.Arg444ThrfsTer7",
        "hgvsWellDefined": "NP_775771.3:p.[Arg444_Ile446delinsThrPhe;Phe449_Glu450delinsGln;Glu452_Lys473del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672645",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267890.11:c.1329dup"
          },
          "RefSeq": {
            "hgvs": "NM_173500.4:c.1329dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267890.6:p.Arg444ThrfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_775771.3:p.Arg444ThrfsTer7"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}