{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042526",
  "communityStandardTitle": [
    "NM_133433.4(NIPBL):c.3410_3413del (p.Gly1137GlufsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359570[alleleid]",
        "alleleId": 359570,
        "preferredName": "NM_133433.4(NIPBL):c.3410_3413del (p.Gly1137fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372888",
        "RCV": [
          "RCV000414589"
        ],
        "variationId": 372888
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37000580_37000583del?assembly=hg19",
        "id": "chr5:g.37000580_37000583del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.37000478_37000481del?assembly=hg38",
        "id": "chr5:g.37000478_37000481del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518050",
        "rs": 1057518050
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 37000481,
          "referenceAllele": "GAAG",
          "start": 37000477
        }
      ],
      "hgvs": [
        "NC_000005.10:g.37000478_37000481del",
        "CM000667.2:g.37000478_37000481del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 37000583,
          "referenceAllele": "GAAG",
          "start": 37000579
        }
      ],
      "hgvs": [
        "NC_000005.9:g.37000580_37000583del",
        "CM000667.1:g.37000580_37000583del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 37036340,
          "referenceAllele": "GAAG",
          "start": 37036336
        }
      ],
      "hgvs": [
        "NC_000005.8:g.37036337_37036340del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 128599,
          "referenceAllele": "GAAG",
          "start": 128595
        }
      ],
      "hgvs": [
        "NG_006987.1:g.128596_128599del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000441"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 128599,
          "referenceAllele": "GAAG",
          "start": 128595
        }
      ],
      "hgvs": [
        "NG_006987.2:g.128596_128599del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673476"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3902,
          "referenceAllele": "GAAG",
          "start": 3898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.13:c.3410_3413del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Gly1137GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743670",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.3410_3413del"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.3410_3413del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Gly1137GlufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Gly1137GlufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3830,
          "referenceAllele": "GAAG",
          "start": 3826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000652901.1:c.3410_3413del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499536.1:p.Gly1137GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772402"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3912,
          "referenceAllele": "GAAG",
          "start": 3908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000282516.12:c.3410_3413del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282516.8:p.Gly1137GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253093"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3881,
          "referenceAllele": "GAAG",
          "start": 3877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000448238.2:c.3410_3413del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406266.2:p.Gly1137GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299633"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 764,
          "referenceAllele": "GAAG",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000503274.1:n.761_764del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS335625"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 22,
          "endIntronDirection": "-",
          "endIntronOffset": 64096,
          "referenceAllele": "GAAG",
          "start": 22,
          "startIntronDirection": "-",
          "startIntronOffset": 64100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "ENST00000621733.1:c.1-64100_1-64097del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480694.1:n.1-64100_1-64097del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405408"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3912,
          "referenceAllele": "GAAG",
          "start": 3908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.4:c.3410_3413del"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Gly1137GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033980"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3912,
          "referenceAllele": "GAAG",
          "start": 3908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.3:c.3410_3413del"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Gly1137GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040510"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3901,
          "referenceAllele": "GAAG",
          "start": 3897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.2:c.3410_3413del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Gly1137GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058379"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2740,
          "referenceAllele": "GAAG",
          "start": 2736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.3:c.2666_2669del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.2:p.Gly889GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058380"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3901,
          "referenceAllele": "GAAG",
          "start": 3897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714467.2:c.3410_3413del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714530.1:p.Gly1137GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070673"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3792,
          "endIntronDirection": "-",
          "endIntronOffset": 335,
          "referenceAllele": "GAAG",
          "start": 3792,
          "startIntronDirection": "-",
          "startIntronOffset": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.1:c.3305-339_3305-336del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:n.3305-339_3305-336del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070674"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3609,
          "endIntronDirection": "-",
          "endIntronOffset": 335,
          "referenceAllele": "GAAG",
          "start": 3609,
          "startIntronDirection": "-",
          "startIntronOffset": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514014.1:c.3122-339_3122-336del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512316.1:n.3122-339_3122-336del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081240"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3901,
          "referenceAllele": "GAAG",
          "start": 3897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_011514015.1:c.3410_3413del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512317.1:p.Gly1137GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081241"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3901,
          "referenceAllele": "GAAG",
          "start": 3897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248280.3:c.3410_3413del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248337.1:p.Gly1137GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533037"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3402,
          "referenceAllele": "GAAG",
          "start": 3398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_005248282.5:c.2750_2753del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248339.3:p.Gly917GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533038"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3792,
          "endIntronDirection": "-",
          "endIntronOffset": 335,
          "referenceAllele": "GAAG",
          "start": 3792,
          "startIntronDirection": "-",
          "startIntronOffset": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_006714468.2:c.3305-339_3305-336del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714531.1:n.3305-339_3305-336del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538720"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3901,
          "referenceAllele": "GAAG",
          "start": 3897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009329.1:c.3410_3413del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864818.1:p.Gly1137GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563672"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3526,
          "referenceAllele": "GAAG",
          "start": 3522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009330.2:c.1793_1796del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864819.1:p.Gly598GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563673"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2275,
          "referenceAllele": "GAAG",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "XM_017009331.1:c.1784_1787del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864820.1:p.Gly595GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563674"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3902,
          "referenceAllele": "GAAG",
          "start": 3898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_133433.4:c.3410_3413del"
      ],
      "proteinEffect": {
        "hgvs": "NP_597677.2:p.Gly1137GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282516.13:c.3410_3413del"
          },
          "RefSeq": {
            "hgvs": "NM_133433.4:c.3410_3413del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282516.8:p.Gly1137GlufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_597677.2:p.Gly1137GlufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3902,
          "referenceAllele": "GAAG",
          "start": 3898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028862",
      "geneNCBI_id": 25836,
      "geneSymbol": "NIPBL",
      "hgvs": [
        "NM_015384.5:c.3410_3413del"
      ],
      "proteinEffect": {
        "hgvs": "NP_056199.2:p.Gly1137GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697529"
    }
  ],
  "type": "nucleotide"
}