{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344864",
  "communityStandardTitle": [
    "NM_000081.4(LYST):c.5317del (p.Arg1773AspfsTer13)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=76452[alleleid]",
        "alleleId": 76452,
        "preferredName": "NM_000081.4(LYST):c.5317del (p.Arg1773fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/65544",
        "RCV": [
          "RCV000055737"
        ],
        "variationId": 65544
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235940506del?assembly=hg19",
        "id": "chr1:g.235940506del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.235777206del?assembly=hg38",
        "id": "chr1:g.235777206del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338659",
        "rs": 80338659
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 235777208,
          "referenceAllele": "T",
          "start": 235777207
        }
      ],
      "hgvs": [
        "NC_000001.11:g.235777208del",
        "CM000663.2:g.235777208del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 235940508,
          "referenceAllele": "T",
          "start": 235940507
        }
      ],
      "hgvs": [
        "NC_000001.10:g.235940508del",
        "CM000663.1:g.235940508del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 234007131,
          "referenceAllele": "T",
          "start": 234007130
        }
      ],
      "hgvs": [
        "NC_000001.9:g.234007131del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 111435,
          "referenceAllele": "A",
          "start": 111434
        }
      ],
      "hgvs": [
        "NG_007397.1:g.111435del",
        "LRG_143:g.111435del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5373,
          "referenceAllele": "A",
          "start": 5372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697178.1:c.*741del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513163.1:n.*741del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908583"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5478,
          "referenceAllele": "A",
          "start": 5477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.7:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.5317del"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.5317del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Arg1773AspfsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Arg1773AspfsTer13"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5492,
          "referenceAllele": "A",
          "start": 5491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.6:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274290"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5069,
          "referenceAllele": "A",
          "start": 5068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389794.7:c.*741del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374444.4:n.*741del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274291"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5868,
          "referenceAllele": "A",
          "start": 5867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000489585.5:n.5868del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.3:c.5317del",
        "LRG_143t1:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006145"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5936,
          "referenceAllele": "A",
          "start": 5935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_001301365.1:c.5317del",
        "LRG_143t2:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288294.1:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025192"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544031.1:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542333.1:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110944"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5902,
          "referenceAllele": "A",
          "start": 5901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544032.1:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542334.1:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110945"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5700,
          "referenceAllele": "A",
          "start": 5699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.1:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110946"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544034.1:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542336.1:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110947"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544035.1:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542337.1:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110948"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3144,
          "referenceAllele": "A",
          "start": 3143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.1:c.2980del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Arg994AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110949"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544037.1:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542339.1:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110950"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544038.1:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542340.1:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110951"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544039.1:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542341.1:p.Arg1773AspfsTer13",
        "hgvsWellDefined": "XP_011542341.1:p.[Arg1773Asp;Phe1775del;Ser1777_Val1780delinsAla;Ser1782_Leu1790delinsLys;Asn1792_Glu1797delinsPheArgAlaSer;Lys1799_Gln1802del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110952"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544040.1:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542342.1:p.Arg1773AspfsTer13",
        "hgvsWellDefined": "XP_011542342.1:p.[Arg1773Asp;Phe1775del;Ser1777_Val1780delinsAla;Ser1782_Leu1790delinsLys;Asn1792_Glu1797delinsPheArgAlaSer;Lys1799_Gln1802del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110953"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5649,
          "referenceAllele": "A",
          "start": 5648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.2:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555477"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544035.2:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542337.1:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555478"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3153,
          "referenceAllele": "A",
          "start": 3152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544036.2:c.2980del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542338.1:p.Arg994AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555479"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544037.2:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542339.1:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555480"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544039.2:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542341.1:p.Arg1773AspfsTer13",
        "hgvsWellDefined": "XP_011542341.1:p.[Arg1773Asp;Phe1775del;Ser1777_Val1780delinsAla;Ser1782_Leu1790delinsLys;Asn1792_Glu1797delinsPheArgAlaSer;Lys1799_Gln1802del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555481"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000150.1:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855639.1:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556567"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000151.1:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855640.1:p.Arg1773AspfsTer13",
        "hgvsWellDefined": "XP_016855640.1:p.[Arg1773Asp;Phe1775del;Ser1777_Val1780delinsAla;Ser1782_Leu1790delinsLys;Asn1792_Glu1797delinsPheArgAlaSer;Lys1799_Gln1802del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556568"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736946.2:n.5499del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587794"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736947.1:n.5499del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587795"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736948.1:n.5499del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587796"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5499,
          "referenceAllele": "A",
          "start": 5498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_002959252.1:n.5499del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605185"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5478,
          "referenceAllele": "A",
          "start": 5477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.4:c.5317del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Arg1773AspfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.5317del"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.5317del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Arg1773AspfsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Arg1773AspfsTer13"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}