{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043408",
  "communityStandardTitle": [
    "NM_133433.4(NIPBL):c.1811_1812del (p.Ser604Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360869[alleleid]",
        "alleleId": 360869,
        "preferredName": "NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374171",
        "RCV": [
          "RCV000414869",
          "RCV001196333"
        ],
        "variationId": 374171
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.36985092_36985093del?assembly=hg19",
        "id": "chr5:g.36985092_36985093del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.36984990_36984991del?assembly=hg38",
        "id": "chr5:g.36984990_36984991del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518944",
        "rs": 1057518944
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 36984992,
          "referenceAllele": "CT",
          "start": 36984990
        }
      ],
      "hgvs": [
        "NC_000005.10:g.36984991_36984992del",
        "CM000667.2:g.36984991_36984992del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 36985094,
          "referenceAllele": "CT",
          "start": 36985092
        }
      ],
      "hgvs": [
        "NC_000005.9:g.36985093_36985094del",
        "CM000667.1:g.36985093_36985094del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 37020851,
          "referenceAllele": "CT",
          "start": 37020849
        }
      ],
      "hgvs": [
        "NC_000005.8:g.37020850_37020851del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 113110,
          "referenceAllele": "CT",
          "start": 113108
        }
      ],
      "hgvs": [
        "NG_006987.1:g.113109_113110del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000441"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 113110,
          "referenceAllele": "CT",
          "start": 113108
        }
      ],
      "hgvs": [
        "NG_006987.2:g.113109_113110del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2301,
          "referenceAllele": "CT",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.13:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.1811_1812del"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.1811_1812del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Ser604Ter"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Ser604Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2229,
          "referenceAllele": "CT",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000652901.1:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499536.1:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772402"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2311,
          "referenceAllele": "CT",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.12:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253093"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2280,
          "referenceAllele": "CT",
          "start": 2278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000448238.2:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406266.2:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299633"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1432,
          "referenceAllele": "CT",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000504430.5:n.1431_1432del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336488"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 22,
          "endIntronDirection": "-",
          "endIntronOffset": 79585,
          "referenceAllele": "CT",
          "start": 22,
          "startIntronDirection": "-",
          "startIntronOffset": 79587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000621733.1:c.1-79587_1-79586del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480694.1:n.1-79587_1-79586del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405408"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2311,
          "referenceAllele": "CT",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.4:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2311,
          "referenceAllele": "CT",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.3:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040510"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2300,
          "referenceAllele": "CT",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.2:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058379"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1139,
          "referenceAllele": "CT",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.3:c.1067_1068del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.2:p.Ser356Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058380"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2300,
          "referenceAllele": "CT",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714467.2:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714530.1:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070673"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2300,
          "referenceAllele": "CT",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.1:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070674"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2300,
          "referenceAllele": "CT",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514014.1:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512316.1:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081240"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2300,
          "referenceAllele": "CT",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514015.1:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512317.1:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081241"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2300,
          "referenceAllele": "CT",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.3:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533037"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1801,
          "referenceAllele": "CT",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.5:c.1151_1152del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.3:p.Ser384Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2300,
          "referenceAllele": "CT",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.2:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538720"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2300,
          "referenceAllele": "CT",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009329.1:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864818.1:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563672"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1925,
          "referenceAllele": "CT",
          "start": 1923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009330.2:c.194_195del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864819.1:p.Ser65Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563673"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1983,
          "endIntronDirection": "+",
          "endIntronOffset": 8590,
          "referenceAllele": "CT",
          "start": 1983,
          "startIntronDirection": "+",
          "startIntronOffset": 8588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009331.1:c.1495+8589_1495+8590del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864820.1:n.1495+8589_1495+8590del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563674"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2301,
          "referenceAllele": "CT",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.4:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.1811_1812del"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.1811_1812del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Ser604Ter"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Ser604Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2301,
          "referenceAllele": "CT",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.5:c.1811_1812del"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Ser604Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697529"
    }
  ],
  "type": "nucleotide"
}