{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA915940734",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.1614_1615del (p.Val539ThrfsTer27)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1670374[alleleid]",
        "alleleId": 1670374,
        "preferredName": "NM_001114753.3(ENG):c.1614_1615del (p.Val539fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1678625",
        "RCV": [
          "RCV002225226"
        ],
        "variationId": 1678625
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2131875686",
        "rs": 2131875686
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 127818192,
          "referenceAllele": "CT",
          "start": 127818190
        }
      ],
      "hgvs": [
        "NC_000009.12:g.127818191_127818192del",
        "CM000671.2:g.127818191_127818192del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 130580471,
          "referenceAllele": "CT",
          "start": 130580469
        }
      ],
      "hgvs": [
        "NC_000009.11:g.130580470_130580471del",
        "CM000671.1:g.130580470_130580471del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 129620292,
          "referenceAllele": "CT",
          "start": 129620290
        }
      ],
      "hgvs": [
        "NC_000009.10:g.129620291_129620292del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 41578,
          "referenceAllele": "AG",
          "start": 41576
        }
      ],
      "hgvs": [
        "NG_009551.1:g.41577_41578del",
        "LRG_589:g.41577_41578del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1777,
          "referenceAllele": "AG",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.6:c.1068_1069del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:p.Val357ThrfsTer27",
        "hgvsWellDefined": "ENSP00000479015.1:p.[Val357_Lys361del;Gly363His;Leu365_Ala370delinsGlnAsnArgHisProGln;Arg372_Gly376delinsHisGlySerProAla;Gln380_Glu381delinsArg;His383Ser;Thr385_Val386delinsProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1918,
          "referenceAllele": "AG",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.9:c.1614_1615del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.Val539ThrfsTer27",
        "hgvsWellDefined": "ENSP00000362299.4:p.[Val539_Lys543del;Gly545His;Leu547_Ala552delinsGlnAsnArgHisProGln;Arg554_Gly558delinsHisGlySerProAla;Gln562_Glu563delinsArg;His565Ser;Thr567_Val568delinsProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.1614_1615del"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.1614_1615del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Val539ThrfsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Val539ThrfsTer27"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1896,
          "referenceAllele": "AG",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000344849.4:c.1614_1615del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341917.3:p.Val539ThrfsTer27",
        "hgvsWellDefined": "ENSP00000341917.3:p.[Val539_Lys543del;Gly545His;Leu547_Ala552delinsGlnAsnArgHisProGln;Arg554_Gly558delinsHisGlySerProAla;Gln562_Glu563delinsArg;His565Ser;Thr567_Val568delinsProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2016,
          "referenceAllele": "AG",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000373203.8:c.1614_1615del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000362299.4:p.Val539ThrfsTer27",
        "hgvsWellDefined": "ENSP00000362299.4:p.[Val539_Lys543del;Gly545His;Leu547_Ala552delinsGlnAsnArgHisProGln;Arg554_Gly558delinsHisGlySerProAla;Gln562_Glu563delinsArg;His565Ser;Thr567_Val568delinsProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1773,
          "referenceAllele": "AG",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "ENST00000480266.5:c.1068_1069del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479015.1:p.Val357ThrfsTer27",
        "hgvsWellDefined": "ENSP00000479015.1:p.[Val357_Lys361del;Gly363His;Leu365_Ala370delinsGlnAsnArgHisProGln;Arg372_Gly376delinsHisGlySerProAla;Gln380_Glu381delinsArg;His383Ser;Thr385_Val386delinsProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2033,
          "referenceAllele": "AG",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_000118.3:c.1614_1615del",
        "LRG_589t1:c.1614_1615del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000109.1:p.Val539ThrfsTer27",
        "hgvsWellDefined": "NP_000109.1:p.[Val539_Lys543del;Gly545His;Leu547_Ala552delinsGlnAsnArgHisProGln;Arg554_Gly558delinsHisGlySerProAla;Gln562_Glu563delinsArg;His565Ser;Thr567_Val568delinsProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2033,
          "referenceAllele": "AG",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.2:c.1614_1615del",
        "LRG_589t2:c.1614_1615del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Val539ThrfsTer27",
        "hgvsWellDefined": "NP_001108225.1:p.[Val539_Lys543del;Gly545His;Leu547_Ala552delinsGlnAsnArgHisProGln;Arg554_Gly558delinsHisGlySerProAla;Gln562_Glu563delinsArg;His565Ser;Thr567_Val568delinsProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1773,
          "referenceAllele": "AG",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.1:c.1068_1069del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:p.Val357ThrfsTer27",
        "hgvsWellDefined": "NP_001265067.1:p.[Val357_Lys361del;Gly363His;Leu365_Ala370delinsGlnAsnArgHisProGln;Arg372_Gly376delinsHisGlySerProAla;Gln380_Glu381delinsArg;His383Ser;Thr385_Val386delinsProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1377,
          "endIntronDirection": "-",
          "endIntronOffset": 118,
          "referenceAllele": "CT",
          "start": 1377,
          "startIntronDirection": "-",
          "startIntronOffset": 120
        }
      ],
      "hgvs": [
        "NR_136302.1:n.1378-120_1378-119del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528739"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1918,
          "referenceAllele": "AG",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001114753.3:c.1614_1615del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001108225.1:p.Val539ThrfsTer27",
        "hgvsWellDefined": "NP_001108225.1:p.[Val539_Lys543del;Gly545His;Leu547_Ala552delinsGlnAsnArgHisProGln;Arg554_Gly558delinsHisGlySerProAla;Gln562_Glu563delinsArg;His565Ser;Thr567_Val568delinsProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373203.9:c.1614_1615del"
          },
          "RefSeq": {
            "hgvs": "NM_001114753.3:c.1614_1615del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362299.4:p.Val539ThrfsTer27"
          },
          "RefSeq": {
            "hgvs": "NP_001108225.1:p.Val539ThrfsTer27"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1741,
          "referenceAllele": "AG",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NM_001278138.2:c.1068_1069del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265067.1:p.Val357ThrfsTer27",
        "hgvsWellDefined": "NP_001265067.1:p.[Val357_Lys361del;Gly363His;Leu365_Ala370delinsGlnAsnArgHisProGln;Arg372_Gly376delinsHisGlySerProAla;Gln380_Glu381delinsArg;His383Ser;Thr385_Val386delinsProGlySerPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}