{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA294817",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.2049_2053del (p.Ile684ValfsTer3)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168132[alleleid]",
        "alleleId": 168132,
        "preferredName": "NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159277",
        "RCV": [
          "RCV003231181"
        ],
        "variationId": 159277
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176637449_176637453del?assembly=hg19",
        "id": "chr5:g.176637449_176637453del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177210448_177210452del?assembly=hg38",
        "id": "chr5:g.177210448_177210452del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587784080",
        "rs": 587784080
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 177210452,
          "referenceAllele": "GATAA",
          "start": 177210447
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177210448_177210452del",
        "CM000667.2:g.177210448_177210452del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 176637453,
          "referenceAllele": "GATAA",
          "start": 176637448
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176637449_176637453del",
        "CM000667.1:g.176637449_176637453del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 176570059,
          "referenceAllele": "GATAA",
          "start": 176570054
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176570055_176570059del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 82374,
          "referenceAllele": "GATAA",
          "start": 82369
        }
      ],
      "hgvs": [
        "NG_009821.1:g.82370_82374del",
        "LRG_512:g.82370_82374del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1435,
          "referenceAllele": "GATAA",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.1176_1180del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Ile393ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1347,
          "referenceAllele": "GATAA",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.1176_1180del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Ile393ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1406,
          "referenceAllele": "GATAA",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.1176_1180del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Ile393ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1435,
          "referenceAllele": "GATAA",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.6:c.1176_1180del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.2:p.Lys392="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825543"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 612,
          "endIntronDirection": "+",
          "endIntronOffset": 6160,
          "referenceAllele": "GATAA",
          "start": 612,
          "startIntronDirection": "+",
          "startIntronOffset": 6155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000510954.6:n.612+6156_612+6160del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825574"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1285,
          "referenceAllele": "GATAA",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000638627.3:c.993_997del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492679.3:p.Lys331="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826677"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1636,
          "referenceAllele": "GATAA",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.1632_1636del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1365,
          "referenceAllele": "GATAA",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.1176_1180del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Ile393ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1762,
          "referenceAllele": "GATAA",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.1740_1744del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Ile581ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1450,
          "referenceAllele": "GATAA",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.1446_1450del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2255,
          "referenceAllele": "GATAA",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689326.1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509594.1:p.Ile684ValfsTer3",
        "hgvsWellDefined": "ENSP00000509594.1:p.[Ile684_Arg688delinsVal;Ala690_Gly714del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832114"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1383,
          "referenceAllele": "GATAA",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.1176_1180del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Ile393ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2200,
          "referenceAllele": "GATAA",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689549.1:n.2196_2200del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832234"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2250,
          "referenceAllele": "GATAA",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Ile684ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.2049_2053del"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.2049_2053del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Ile684ValfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Ile684ValfsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1285,
          "referenceAllele": "GATAA",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000638627.2:c.*1142_*1146del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492679.2:n.*1142_*1146del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1347,
          "referenceAllele": "GATAA",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.1242_1246del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Ile415ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1406,
          "referenceAllele": "GATAA",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.1242_1246del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Ile415ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2098,
          "referenceAllele": "GATAA",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Ile684ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2191,
          "referenceAllele": "GATAA",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.2049_2053del",
        "LRG_512t1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Ile684ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1406,
          "referenceAllele": "GATAA",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.1242_1246del"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Ile415ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2200,
          "referenceAllele": "GATAA",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Ile684ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1347,
          "referenceAllele": "GATAA",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.1242_1246del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Ile415ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1365,
          "referenceAllele": "GATAA",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.1242_1246del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Ile415ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2122,
          "referenceAllele": "GATAA",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Ile684ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2093,
          "referenceAllele": "GATAA",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Ile684ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1836,
          "referenceAllele": "GATAA",
          "start": 1831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.1629_1633del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Ile544ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1188,
          "referenceAllele": "GATAA",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.993_997del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Ile332ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2259,
          "referenceAllele": "GATAA",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534614.1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532916.1:p.Ile684ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101626"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2259,
          "referenceAllele": "GATAA",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534615.1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532917.1:p.Ile684ValfsTer3",
        "hgvsWellDefined": "XP_011532917.1:p.[Ile684_Arg688delinsVal;Ala690_Gly714del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101627"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2260,
          "referenceAllele": "GATAA",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534616.1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532918.1:p.Ile684ValfsTer3",
        "hgvsWellDefined": "XP_011532918.1:p.[Ile684_Arg688delinsVal;Ala690_Gly714del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1347,
          "referenceAllele": "GATAA",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.1242_1246del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Ile415ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2200,
          "referenceAllele": "GATAA",
          "start": 2195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Ile684ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2175,
          "referenceAllele": "GATAA",
          "start": 2170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Ile684ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2129,
          "referenceAllele": "GATAA",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Ile684ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2824,
          "referenceAllele": "GATAA",
          "start": 2819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Ile684ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1841,
          "referenceAllele": "GATAA",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.1629_1633del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Ile544ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1539,
          "referenceAllele": "GATAA",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.1242_1246del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Ile415ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1386,
          "referenceAllele": "GATAA",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.1242_1246del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Ile415ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1430,
          "referenceAllele": "GATAA",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.1242_1246del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Ile415ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1224,
          "referenceAllele": "GATAA",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.993_997del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Ile332ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2279,
          "referenceAllele": "GATAA",
          "start": 2274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446160.1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301928.1:p.Ile684ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579834"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2279,
          "referenceAllele": "GATAA",
          "start": 2274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446161.1:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301929.1:p.Ile684ValfsTer3",
        "hgvsWellDefined": "XP_024301929.1:p.[Ile684_Arg688delinsVal;Ala690_Gly714del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579835"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1172,
          "referenceAllele": "GATAA",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.-1947_-1943del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:n.-1947_-1943del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2250,
          "referenceAllele": "GATAA",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.2049_2053del"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Ile684ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.2049_2053del"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.2049_2053del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Ile684ValfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Ile684ValfsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1470,
          "referenceAllele": "GATAA",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.1242_1246del"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Ile415ValfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}