{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16612522",
  "communityStandardTitle": [
    "NM_017780.4(CHD7):c.6163_6164del (p.Leu2055ValfsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=396671[alleleid]",
        "alleleId": 396671,
        "preferredName": "NM_017780.4(CHD7):c.6163_6164del (p.Leu2055fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/411186",
        "RCV": [
          "RCV000475738"
        ],
        "variationId": 411186
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.61765447_61765448del?assembly=hg19",
        "id": "chr8:g.61765447_61765448del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.60852888_60852889del?assembly=hg38",
        "id": "chr8:g.60852888_60852889del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503185",
        "rs": 1060503185
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 60852889,
          "referenceAllele": "CT",
          "start": 60852887
        }
      ],
      "hgvs": [
        "NC_000008.11:g.60852888_60852889del",
        "CM000670.2:g.60852888_60852889del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 61765448,
          "referenceAllele": "CT",
          "start": 61765446
        }
      ],
      "hgvs": [
        "NC_000008.10:g.61765447_61765448del",
        "CM000670.1:g.61765447_61765448del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "",
          "end": 61928002,
          "referenceAllele": "CT",
          "start": 61928000
        }
      ],
      "hgvs": [
        "NC_000008.9:g.61928001_61928002del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 179110,
          "referenceAllele": "CT",
          "start": 179108
        }
      ],
      "hgvs": [
        "NG_007009.1:g.179109_179110del",
        "LRG_176:g.179109_179110del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000443"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6677,
          "referenceAllele": "CT",
          "start": 6675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000695853.1:c.6163_6164del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512218.1:p.Leu2055ValfsTer4",
        "hgvsWellDefined": "ENSP00000512218.1:p.[Leu2055_Gln2067del;Leu2069Pro;His2071_Ser2084del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907350"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6681,
          "referenceAllele": "CT",
          "start": 6679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000423902.7:c.6163_6164del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392028.1:p.Leu2055ValfsTer4",
        "hgvsWellDefined": "ENSP00000392028.1:p.[Leu2055_Gln2067del;Leu2069Pro;His2071_Ser2084del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755001",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423902.7:c.6163_6164del"
          },
          "RefSeq": {
            "hgvs": "NM_017780.4:c.6163_6164del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392028.1:p.Leu2055ValfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_060250.2:p.Leu2055ValfsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6643,
          "referenceAllele": "CT",
          "start": 6641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000423902.6:c.6163_6164del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392028.1:p.Leu2055ValfsTer4",
        "hgvsWellDefined": "ENSP00000392028.1:p.[Leu2055_Gln2067del;Leu2069Pro;His2071_Ser2084del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287994"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1784,
          "endIntronDirection": "-",
          "endIntronOffset": 9339,
          "referenceAllele": "CT",
          "start": 1784,
          "startIntronDirection": "-",
          "startIntronOffset": 9341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "ENST00000524602.5:c.1717-9341_1717-9340del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437061.1:n.1717-9341_1717-9340del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350734"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1890,
          "endIntronDirection": "-",
          "endIntronOffset": 9339,
          "referenceAllele": "CT",
          "start": 1890,
          "startIntronDirection": "-",
          "startIntronOffset": 9341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NM_001316690.1:c.1717-9341_1717-9340del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303619.1:n.1717-9341_1717-9340del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026606"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6656,
          "referenceAllele": "CT",
          "start": 6654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NM_017780.3:c.6163_6164del"
      ],
      "proteinEffect": {
        "hgvs": "NP_060250.2:p.Leu2055ValfsTer4",
        "hgvsWellDefined": "NP_060250.2:p.[Leu2055_Gln2067del;Leu2069Pro;His2071_Ser2084del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035187"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6749,
          "referenceAllele": "CT",
          "start": 6747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517553.1:c.6253_6254del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515855.1:p.Leu2085ValfsTer4",
        "hgvsWellDefined": "XP_011515855.1:p.[Leu2085_Gln2097del;Leu2099Pro;His2101_Ser2114del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084741"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6656,
          "referenceAllele": "CT",
          "start": 6654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517554.1:c.6253_6254del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515856.1:p.Leu2085ValfsTer4",
        "hgvsWellDefined": "XP_011515856.1:p.[Leu2085_Gln2097del;Leu2099Pro;His2101_Ser2114del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084742"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6749,
          "referenceAllele": "CT",
          "start": 6747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517555.1:c.6253_6254del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515857.1:p.Leu2085ValfsTer4",
        "hgvsWellDefined": "XP_011515857.1:p.[Leu2085_Gln2097del;Leu2099Pro;His2101_Ser2114del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084743"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6749,
          "referenceAllele": "CT",
          "start": 6747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517556.1:c.6253_6254del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515858.1:p.Leu2085ValfsTer4",
        "hgvsWellDefined": "XP_011515858.1:p.[Leu2085_Gln2097del;Leu2099Pro;His2101_Ser2114del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084744"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4506,
          "referenceAllele": "CT",
          "start": 4504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517557.1:c.4240_4241del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515859.1:p.Leu1414ValfsTer4",
        "hgvsWellDefined": "XP_011515859.1:p.[Leu1414_Gln1426del;Leu1428Pro;His1430_Ser1443del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084745"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3861,
          "referenceAllele": "CT",
          "start": 3859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517558.1:c.3790_3791del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515860.1:p.Leu1264ValfsTer4",
        "hgvsWellDefined": "XP_011515860.1:p.[Leu1264_Gln1276del;Leu1278Pro;His1280_Ser1293del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084746"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4001,
          "referenceAllele": "CT",
          "start": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517559.1:c.2998_2999del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515861.1:p.Leu1000ValfsTer4",
        "hgvsWellDefined": "XP_011515861.1:p.[Leu1000_Gln1012del;Leu1014Pro;His1016_Ser1029del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084747"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6767,
          "referenceAllele": "CT",
          "start": 6765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517553.2:c.6253_6254del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515855.1:p.Leu2085ValfsTer4",
        "hgvsWellDefined": "XP_011515855.1:p.[Leu2085_Gln2097del;Leu2099Pro;His2101_Ser2114del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544575"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6553,
          "referenceAllele": "CT",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517554.3:c.6253_6254del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515856.1:p.Leu2085ValfsTer4",
        "hgvsWellDefined": "XP_011515856.1:p.[Leu2085_Gln2097del;Leu2099Pro;His2101_Ser2114del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544576"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6767,
          "referenceAllele": "CT",
          "start": 6765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_011517555.2:c.6253_6254del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515857.1:p.Leu2085ValfsTer4",
        "hgvsWellDefined": "XP_011515857.1:p.[Leu2085_Gln2097del;Leu2099Pro;His2101_Ser2114del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6821,
          "referenceAllele": "CT",
          "start": 6819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_017013612.1:c.6253_6254del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869101.1:p.Leu2085ValfsTer4",
        "hgvsWellDefined": "XP_016869101.1:p.[Leu2085_Gln2097del;Leu2099Pro;His2101_Ser2114del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566857"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6677,
          "referenceAllele": "CT",
          "start": 6675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "XM_017013613.1:c.6163_6164del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869102.1:p.Leu2055ValfsTer4",
        "hgvsWellDefined": "XP_016869102.1:p.[Leu2055_Gln2067del;Leu2069Pro;His2071_Ser2084del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566858"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6681,
          "referenceAllele": "CT",
          "start": 6679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NM_017780.4:c.6163_6164del"
      ],
      "proteinEffect": {
        "hgvs": "NP_060250.2:p.Leu2055ValfsTer4",
        "hgvsWellDefined": "NP_060250.2:p.[Leu2055_Gln2067del;Leu2069Pro;His2071_Ser2084del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669365",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000423902.7:c.6163_6164del"
          },
          "RefSeq": {
            "hgvs": "NM_017780.4:c.6163_6164del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392028.1:p.Leu2055ValfsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_060250.2:p.Leu2055ValfsTer4"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}