{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA199651",
  "communityStandardTitle": [
    "NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362SerfsTer10)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188076[alleleid]",
        "alleleId": 188076,
        "preferredName": "NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/190252",
        "RCV": [
          "RCV000170473",
          "RCV000478920",
          "RCV001826868"
        ],
        "variationId": 190252
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47460365_47460366dupAG?assembly=hg19",
        "id": "chr11:g.47460365_47460366dupAG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47460364_47460365insAG?assembly=hg19",
        "id": "chr11:g.47460364_47460365insAG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47438814_47438815dupAG?assembly=hg38",
        "id": "chr11:g.47438814_47438815dupAG"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.47438813_47438814insAG?assembly=hg38",
        "id": "chr11:g.47438813_47438814insAG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205885",
        "rs": 786205885
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "AG",
          "end": 47438817,
          "referenceAllele": "",
          "start": 47438817
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47438816_47438817dup",
        "CM000673.2:g.47438816_47438817dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "AG",
          "end": 47460368,
          "referenceAllele": "",
          "start": 47460368
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47460367_47460368dup",
        "CM000673.1:g.47460367_47460368dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "AG",
          "end": 47416944,
          "referenceAllele": "",
          "start": 47416944
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47416943_47416944dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 15366,
          "referenceAllele": "",
          "start": 15366
        }
      ],
      "hgvs": [
        "NG_008312.1:g.15365_15366dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001021"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1256,
          "referenceAllele": "",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "ENST00000298854.7:c.1083_1084dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298854.2:p.Tyr362SerfsTer10",
        "hgvsWellDefined": "ENSP00000298854.2:p.[Tyr362_Leu365delinsSerThrAlaAla;Gly367_Glu368delinsAlaAla;Ile370_Leu380del;Cys382_Leu391del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744628",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298854.7:c.1083_1084dup"
          },
          "RefSeq": {
            "hgvs": "NM_005055.5:c.1083_1084dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298854.2:p.Tyr362SerfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_005046.2:p.Tyr362SerfsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1298,
          "referenceAllele": "",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "ENST00000298854.6:c.1083_1084dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298854.2:p.Tyr362SerfsTer10",
        "hgvsWellDefined": "ENSP00000298854.2:p.[Tyr362_Leu365delinsSerThrAlaAla;Gly367_Glu368delinsAlaAla;Ile370_Leu380del;Cys382_Leu391del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254641"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1086,
          "referenceAllele": "",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "ENST00000352508.7:c.906_907dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298853.3:p.Tyr303SerfsTer10",
        "hgvsWellDefined": "ENSP00000298853.3:p.[Tyr303_Leu306delinsSerThrAlaAla;Gly308_Glu309delinsAlaAla;Ile311_Leu321del;Cys323_Leu332del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262876"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1097,
          "referenceAllele": "",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "ENST00000524487.5:c.924_925dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435551.2:p.Tyr309SerfsTer10",
        "hgvsWellDefined": "ENSP00000435551.2:p.[Tyr309_Leu312delinsSerThrAlaAla;Gly314_Glu315delinsAlaAla;Ile317_Leu327del;Cys329_Leu338del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350638"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 121,
          "endIntronDirection": "-",
          "endIntronOffset": 766,
          "referenceAllele": "",
          "start": 121,
          "startIntronDirection": "-",
          "startIntronOffset": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "ENST00000528356.1:n.122-768_122-767dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353907"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1079,
          "referenceAllele": "",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "ENST00000529341.1:c.906_907dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431732.1:p.Tyr303SerfsTer10",
        "hgvsWellDefined": "ENSP00000431732.1:p.[Tyr303_Leu306delinsSerThrAlaAla;Gly308_Glu309delinsAlaAla;Ile311_Leu321del;Cys323_Gly332del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354737"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1298,
          "referenceAllele": "",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_005055.4:c.1083_1084dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005046.2:p.Tyr362SerfsTer10",
        "hgvsWellDefined": "NP_005046.2:p.[Tyr362_Leu365delinsSerThrAlaAla;Gly367_Glu368delinsAlaAla;Ile370_Leu380del;Cys382_Leu391del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030184"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1121,
          "referenceAllele": "",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_032645.4:c.906_907dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_116034.2:p.Tyr303SerfsTer10",
        "hgvsWellDefined": "NP_116034.2:p.[Tyr303_Leu306delinsSerThrAlaAla;Gly308_Glu309delinsAlaAla;Ile311_Leu321del;Cys323_Leu332del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039240"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1202,
          "referenceAllele": "",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_005253042.2:c.1029_1030dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253099.1:p.Tyr344SerfsTer10",
        "hgvsWellDefined": "XP_005253099.1:p.[Tyr344_Leu347delinsSerThrAlaAla;Gly349_Glu350delinsAlaAla;Ile352_Leu362del;Cys364_Leu373del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060134"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1133,
          "referenceAllele": "",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_005253043.2:c.960_961dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253100.1:p.Tyr321SerfsTer10",
        "hgvsWellDefined": "XP_005253100.1:p.[Tyr321_Leu324delinsSerThrAlaAla;Gly326_Glu327delinsAlaAla;Ile329_Leu339del;Cys341_Leu350del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060135"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1341,
          "referenceAllele": "",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_011520252.1:c.1168_1169dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518554.1:p.Leu391TyrfsTer?",
        "hgvsWellDefined": "XP_011518554.1:p.[Leu391_Arg400delinsTyrCysGlyLeuCysGlyGluSerIleGly;Glu402_Ala405delinsLysAsnSerArgLeuGln;Gly407Leu;Thr409_Pro412delinsCysSerHisIlePhe;Pro415_Pro419delinsArgCysLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087421"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1280,
          "referenceAllele": "",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_011520253.1:c.1107_1108dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518555.1:p.Tyr370SerfsTer10",
        "hgvsWellDefined": "XP_011518555.1:p.[Tyr370_Leu373delinsSerThrAlaAla;Gly375_Glu376delinsAlaAla;Ile378_Leu388del;Cys390_Leu399del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087422"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1202,
          "referenceAllele": "",
          "start": 1202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_005253042.3:c.1029_1030dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253099.1:p.Tyr344SerfsTer10",
        "hgvsWellDefined": "XP_005253099.1:p.[Tyr344_Leu347delinsSerThrAlaAla;Gly349_Glu350delinsAlaAla;Ile352_Leu362del;Cys364_Leu373del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533890"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1133,
          "referenceAllele": "",
          "start": 1133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "XM_005253043.3:c.960_961dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253100.1:p.Tyr321SerfsTer10",
        "hgvsWellDefined": "XP_005253100.1:p.[Tyr321_Leu324delinsSerThrAlaAla;Gly326_Glu327delinsAlaAla;Ile329_Leu339del;Cys341_Leu350del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533891"
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1256,
          "referenceAllele": "",
          "start": 1256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_005055.5:c.1083_1084dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005046.2:p.Tyr362SerfsTer10",
        "hgvsWellDefined": "NP_005046.2:p.[Tyr362_Leu365delinsSerThrAlaAla;Gly367_Glu368delinsAlaAla;Ile370_Leu380del;Cys382_Leu391del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298854.7:c.1083_1084dup"
          },
          "RefSeq": {
            "hgvs": "NM_005055.5:c.1083_1084dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298854.2:p.Tyr362SerfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_005046.2:p.Tyr362SerfsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CT",
          "end": 1079,
          "referenceAllele": "",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_032645.5:c.906_907dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_116034.2:p.Tyr303SerfsTer10",
        "hgvsWellDefined": "NP_116034.2:p.[Tyr303_Leu306delinsSerThrAlaAla;Gly308_Glu309delinsAlaAla;Ile311_Leu321del;Cys323_Leu332del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699166"
    }
  ],
  "type": "nucleotide"
}