{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA294845",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.3185_3186del (p.Val1062AspfsTer3)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168157[alleleid]",
        "alleleId": 168157,
        "preferredName": "NM_022455.5(NSD1):c.3185_3186del (p.Val1062fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159302",
        "RCV": [
          "RCV003231204"
        ],
        "variationId": 159302
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176638585_176638586del?assembly=hg19",
        "id": "chr5:g.176638585_176638586del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177211584_177211585del?assembly=hg38",
        "id": "chr5:g.177211584_177211585del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587784097",
        "rs": 587784097
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 177211585,
          "referenceAllele": "TG",
          "start": 177211583
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177211584_177211585del",
        "CM000667.2:g.177211584_177211585del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 176638586,
          "referenceAllele": "TG",
          "start": 176638584
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176638585_176638586del",
        "CM000667.1:g.176638585_176638586del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 176571192,
          "referenceAllele": "TG",
          "start": 176571190
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176571191_176571192del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 83507,
          "referenceAllele": "TG",
          "start": 83505
        }
      ],
      "hgvs": [
        "NG_009821.1:g.83506_83507del",
        "LRG_512:g.83506_83507del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2568,
          "referenceAllele": "TG",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.2312_2313del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Val771AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2480,
          "referenceAllele": "TG",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.2312_2313del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Val771AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2539,
          "referenceAllele": "TG",
          "start": 2537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.2312_2313del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Val771AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 612,
          "endIntronDirection": "+",
          "endIntronOffset": 7293,
          "referenceAllele": "TG",
          "start": 612,
          "startIntronDirection": "+",
          "startIntronOffset": 7291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000510954.6:n.612+7292_612+7293del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825574"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2769,
          "referenceAllele": "TG",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.2768_2769del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2498,
          "referenceAllele": "TG",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.2312_2313del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Val771AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2895,
          "referenceAllele": "TG",
          "start": 2893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.2876_2877del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Val959AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2583,
          "referenceAllele": "TG",
          "start": 2581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.2582_2583del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3388,
          "referenceAllele": "TG",
          "start": 3386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689326.1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509594.1:p.Val1062AspfsTer3",
        "hgvsWellDefined": "ENSP00000509594.1:p.[Val1062_Leu1064del;Ala1066_Gly1076del;Leu1078_Gln1092del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832114"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2516,
          "referenceAllele": "TG",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.2312_2313del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Val771AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3333,
          "referenceAllele": "TG",
          "start": 3331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689549.1:n.3332_3333del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832234"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3383,
          "referenceAllele": "TG",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Val1062AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.3185_3186del"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.3185_3186del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Val1062AspfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Val1062AspfsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2480,
          "referenceAllele": "TG",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.2378_2379del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Val793AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2539,
          "referenceAllele": "TG",
          "start": 2537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.2378_2379del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Val793AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3231,
          "referenceAllele": "TG",
          "start": 3229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Val1062AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3324,
          "referenceAllele": "TG",
          "start": 3322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.3185_3186del",
        "LRG_512t1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Val1062AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2539,
          "referenceAllele": "TG",
          "start": 2537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.2378_2379del"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Val793AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3333,
          "referenceAllele": "TG",
          "start": 3331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Val1062AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2480,
          "referenceAllele": "TG",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.2378_2379del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Val793AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2498,
          "referenceAllele": "TG",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.2378_2379del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Val793AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3255,
          "referenceAllele": "TG",
          "start": 3253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Val1062AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3226,
          "referenceAllele": "TG",
          "start": 3224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Val1062AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2969,
          "referenceAllele": "TG",
          "start": 2967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.2765_2766del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Val922AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2321,
          "referenceAllele": "TG",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.2129_2130del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Val710AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3392,
          "referenceAllele": "TG",
          "start": 3390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534614.1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532916.1:p.Val1062AspfsTer3",
        "hgvsWellDefined": "XP_011532916.1:p.[Val1062_Leu1064del;Ala1066_Gly1076del;Leu1078_Gln1092del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101626"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3392,
          "referenceAllele": "TG",
          "start": 3390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534615.1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532917.1:p.Val1062AspfsTer3",
        "hgvsWellDefined": "XP_011532917.1:p.[Val1062_Leu1064del;Ala1066_Gly1076del;Leu1078_Gln1092del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101627"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3393,
          "referenceAllele": "TG",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534616.1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532918.1:p.Val1062AspfsTer3",
        "hgvsWellDefined": "XP_011532918.1:p.[Val1062_Leu1064del;Ala1066_Gly1076del;Leu1078_Gln1092del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2480,
          "referenceAllele": "TG",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.2378_2379del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Val793AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3333,
          "referenceAllele": "TG",
          "start": 3331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Val1062AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3308,
          "referenceAllele": "TG",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Val1062AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3262,
          "referenceAllele": "TG",
          "start": 3260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Val1062AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3957,
          "referenceAllele": "TG",
          "start": 3955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Val1062AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2974,
          "referenceAllele": "TG",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.2765_2766del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Val922AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2672,
          "referenceAllele": "TG",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.2378_2379del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Val793AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2519,
          "referenceAllele": "TG",
          "start": 2517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.2378_2379del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Val793AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2563,
          "referenceAllele": "TG",
          "start": 2561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.2378_2379del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Val793AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2357,
          "referenceAllele": "TG",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.2129_2130del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Val710AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3412,
          "referenceAllele": "TG",
          "start": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446160.1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301928.1:p.Val1062AspfsTer3",
        "hgvsWellDefined": "XP_024301928.1:p.[Val1062_Leu1064del;Ala1066_Gly1076del;Leu1078_Gln1092del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579834"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3412,
          "referenceAllele": "TG",
          "start": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446161.1:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301929.1:p.Val1062AspfsTer3",
        "hgvsWellDefined": "XP_024301929.1:p.[Val1062_Leu1064del;Ala1066_Gly1076del;Leu1078_Gln1092del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579835"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2305,
          "referenceAllele": "TG",
          "start": 2303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.-811_-810del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:n.-811_-810del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3383,
          "referenceAllele": "TG",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.3185_3186del"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Val1062AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.3185_3186del"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.3185_3186del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Val1062AspfsTer3"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Val1062AspfsTer3"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2603,
          "referenceAllele": "TG",
          "start": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.2378_2379del"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Val793AspfsTer3"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}