{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA916432764",
  "communityStandardTitle": [
    "NM_000081.4(LYST):c.1902del (p.Ala635GlnfsTer13)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338646",
        "rs": 80338646
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 235808921,
          "referenceAllele": "T",
          "start": 235808920
        }
      ],
      "hgvs": [
        "NC_000001.11:g.235808921del",
        "CM000663.2:g.235808921del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 235972221,
          "referenceAllele": "T",
          "start": 235972220
        }
      ],
      "hgvs": [
        "NC_000001.10:g.235972221del",
        "CM000663.1:g.235972221del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 234038844,
          "referenceAllele": "T",
          "start": 234038843
        }
      ],
      "hgvs": [
        "NC_000001.9:g.234038844del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 79725,
          "referenceAllele": "A",
          "start": 79724
        }
      ],
      "hgvs": [
        "NG_007397.1:g.79725del",
        "LRG_143:g.79725del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000565"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2385,
          "referenceAllele": "A",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697178.1:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513163.1:p.Ala635GlnfsTer13",
        "hgvsWellDefined": "ENSP00000513163.1:p.[Ala635_Asn638delinsGlnLeuVal;Cys640_Thr641delinsPhe;Asp643_Gln646del;Ala648_Gln649del;Glu651_Glu652del;Gln655_Gly656delinsThr;Leu658_Ser664del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908583"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1445,
          "referenceAllele": "A",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000697242.1:c.1305del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513207.1:p.Ala436GlnfsTer13",
        "hgvsWellDefined": "ENSP00000513207.1:p.[Ala436_Asn439delinsGlnLeuVal;Cys441_Thr442delinsPhe;Asp444_Gln447del;Ala449_Gln450del;Glu452_Glu453del;Gln456_Gly457delinsThr;Leu459_Ser465del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908630"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2063,
          "referenceAllele": "A",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.7:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.1902del"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.1902del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Ala635GlnfsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Ala635GlnfsTer13"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2077,
          "referenceAllele": "A",
          "start": 2076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389793.6:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374443.2:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274290"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2081,
          "referenceAllele": "A",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000389794.7:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374444.4:p.Ala635GlnfsTer13",
        "hgvsWellDefined": "ENSP00000374444.4:p.[Ala635_Asn638delinsGlnLeuVal;Cys640_Thr641delinsPhe;Asp643_Gln646del;Ala648_Gln649del;Glu651_Glu652del;Gln655_Gly656delinsThr;Leu658_Ser664del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274291"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2453,
          "referenceAllele": "A",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000465349.5:n.2453del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308972"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2453,
          "referenceAllele": "A",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "ENST00000489585.5:n.2453del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327618"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.3:c.1902del",
        "LRG_143t1:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006145"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2521,
          "referenceAllele": "A",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_001301365.1:c.1902del",
        "LRG_143t2:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288294.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025192"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544031.1:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542333.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110944"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2487,
          "referenceAllele": "A",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544032.1:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542334.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110945"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2285,
          "referenceAllele": "A",
          "start": 2284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.1:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110946"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544034.1:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542336.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110947"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544035.1:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542337.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110948"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544037.1:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542339.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110950"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544038.1:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542340.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110951"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544039.1:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542341.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110952"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544040.1:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542342.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110953"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2234,
          "referenceAllele": "A",
          "start": 2233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544033.2:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542335.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555477"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544035.2:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542337.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555478"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544037.2:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542339.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555480"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_011544039.2:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542341.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555481"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000150.1:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855639.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556567"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000151.1:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855640.1:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556568"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736946.2:n.2084del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587794"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736947.1:n.2084del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587795"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736948.1:n.2084del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587796"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2084,
          "referenceAllele": "A",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_002959252.1:n.2084del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605185"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2063,
          "referenceAllele": "A",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.4:c.1902del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Ala635GlnfsTer13"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.1902del"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.1902del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Ala635GlnfsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Ala635GlnfsTer13"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}