{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA294853",
  "communityStandardTitle": [
    "NM_022455.5(NSD1):c.3659_3660del (p.Glu1220AlafsTer5)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168165[alleleid]",
        "alleleId": 168165,
        "preferredName": "NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159312",
        "RCV": [
          "RCV000461609",
          "RCV001778755",
          "RCV003231214"
        ],
        "variationId": 159312
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.176639059_176639060del?assembly=hg19",
        "id": "chr5:g.176639059_176639060del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.177212058_177212059del?assembly=hg38",
        "id": "chr5:g.177212058_177212059del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587784104",
        "rs": 587784104
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 177212059,
          "referenceAllele": "AG",
          "start": 177212057
        }
      ],
      "hgvs": [
        "NC_000005.10:g.177212058_177212059del",
        "CM000667.2:g.177212058_177212059del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 176639060,
          "referenceAllele": "AG",
          "start": 176639058
        }
      ],
      "hgvs": [
        "NC_000005.9:g.176639059_176639060del",
        "CM000667.1:g.176639059_176639060del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "",
          "end": 176571666,
          "referenceAllele": "AG",
          "start": 176571664
        }
      ],
      "hgvs": [
        "NC_000005.8:g.176571665_176571666del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 83981,
          "referenceAllele": "AG",
          "start": 83979
        }
      ],
      "hgvs": [
        "NG_009821.1:g.83980_83981del",
        "LRG_512:g.83980_83981del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3042,
          "referenceAllele": "AG",
          "start": 3040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000508896.7:c.2786_2787del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423372.3:p.Glu929AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914192"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2954,
          "referenceAllele": "AG",
          "start": 2952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.9:c.2786_2787del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.5:p.Glu929AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824051"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3013,
          "referenceAllele": "AG",
          "start": 3011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.9:c.2786_2787del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.5:p.Glu929AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824070"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 612,
          "endIntronDirection": "+",
          "endIntronOffset": 7767,
          "referenceAllele": "AG",
          "start": 612,
          "startIntronDirection": "+",
          "startIntronOffset": 7765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000510954.6:n.612+7766_612+7767del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825574"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3243,
          "referenceAllele": "AG",
          "start": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000685206.1:n.3242_3243del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829942"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2972,
          "referenceAllele": "AG",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000686993.1:c.2786_2787del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510020.1:p.Glu929AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830852"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3369,
          "referenceAllele": "AG",
          "start": 3367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000687453.1:c.3350_3351del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508426.1:p.Glu1117AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831094"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3057,
          "referenceAllele": "AG",
          "start": 3055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000688613.1:n.3056_3057del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831725"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3862,
          "referenceAllele": "AG",
          "start": 3860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689326.1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509594.1:p.Glu1220AlafsTer5",
        "hgvsWellDefined": "ENSP00000509594.1:p.[Glu1220_His1223del;Asp1225_Asp1228delinsLys;Ala1230_Val1236del;Asp1238_Glu1250del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832114"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2990,
          "referenceAllele": "AG",
          "start": 2988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689345.1:c.2786_2787del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509711.1:p.Glu929AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832121"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3807,
          "referenceAllele": "AG",
          "start": 3805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000689549.1:n.3806_3807del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832234"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3857,
          "referenceAllele": "AG",
          "start": 3855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.7:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Glu1220AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.3659_3660del"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.3659_3660del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Glu1220AlafsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Glu1220AlafsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2954,
          "referenceAllele": "AG",
          "start": 2952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000347982.8:c.2852_2853del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343209.4:p.Glu951AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262425"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3013,
          "referenceAllele": "AG",
          "start": 3011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000354179.8:c.2852_2853del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346111.4:p.Glu951AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3705,
          "referenceAllele": "AG",
          "start": 3703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "ENST00000439151.6:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395929.2:p.Glu1220AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295287"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3798,
          "referenceAllele": "AG",
          "start": 3796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.4:c.3659_3660del",
        "LRG_512t1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Glu1220AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037320"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3013,
          "referenceAllele": "AG",
          "start": 3011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.2:c.2852_2853del"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Glu951AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042727"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3807,
          "referenceAllele": "AG",
          "start": 3805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265959.1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266016.1:p.Glu1220AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064873"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2954,
          "referenceAllele": "AG",
          "start": 2952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265960.1:c.2852_2853del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266017.1:p.Glu951AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064874"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2972,
          "referenceAllele": "AG",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_005265961.1:c.2852_2853del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266018.1:p.Glu951AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064875"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3729,
          "referenceAllele": "AG",
          "start": 3727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534610.1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532912.1:p.Glu1220AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101622"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3700,
          "referenceAllele": "AG",
          "start": 3698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534611.1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532913.1:p.Glu1220AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101623"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3443,
          "referenceAllele": "AG",
          "start": 3441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534612.1:c.3239_3240del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532914.1:p.Glu1080AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2795,
          "referenceAllele": "AG",
          "start": 2793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534613.1:c.2603_2604del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532915.1:p.Glu868AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101625"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3866,
          "referenceAllele": "AG",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534614.1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532916.1:p.Glu1220AlafsTer5",
        "hgvsWellDefined": "XP_011532916.1:p.[Glu1220_His1223del;Asp1225_Asp1228delinsLys;Ala1230_Val1236del;Asp1238_Glu1250del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101626"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3866,
          "referenceAllele": "AG",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534615.1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532917.1:p.Glu1220AlafsTer5",
        "hgvsWellDefined": "XP_011532917.1:p.[Glu1220_His1223del;Asp1225_Asp1228delinsLys;Ala1230_Val1236del;Asp1238_Glu1250del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101627"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3867,
          "referenceAllele": "AG",
          "start": 3865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_011534616.1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532918.1:p.Glu1220AlafsTer5",
        "hgvsWellDefined": "XP_011532918.1:p.[Glu1220_His1223del;Asp1225_Asp1228delinsLys;Ala1230_Val1236del;Asp1238_Glu1250del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2954,
          "referenceAllele": "AG",
          "start": 2952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_001365684.1:c.2852_2853del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352613.1:p.Glu951AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3807,
          "referenceAllele": "AG",
          "start": 3805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446150.1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301918.1:p.Glu1220AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579825"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3782,
          "referenceAllele": "AG",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446151.1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301919.1:p.Glu1220AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579826"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3736,
          "referenceAllele": "AG",
          "start": 3734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446152.1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301920.1:p.Glu1220AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579827"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4431,
          "referenceAllele": "AG",
          "start": 4429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446153.1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301921.1:p.Glu1220AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579828"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3448,
          "referenceAllele": "AG",
          "start": 3446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446154.1:c.3239_3240del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301922.1:p.Glu1080AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579829"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3146,
          "referenceAllele": "AG",
          "start": 3144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446155.1:c.2852_2853del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301923.1:p.Glu951AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579830"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2993,
          "referenceAllele": "AG",
          "start": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446156.1:c.2852_2853del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301924.1:p.Glu951AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579831"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3037,
          "referenceAllele": "AG",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446158.1:c.2852_2853del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301926.1:p.Glu951AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2831,
          "referenceAllele": "AG",
          "start": 2829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446159.1:c.2603_2604del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301927.1:p.Glu868AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579833"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3886,
          "referenceAllele": "AG",
          "start": 3884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446160.1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301928.1:p.Glu1220AlafsTer5",
        "hgvsWellDefined": "XP_024301928.1:p.[Glu1220_His1223del;Asp1225_Asp1228delinsLys;Ala1230_Val1236del;Asp1238_Glu1250del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579834"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3886,
          "referenceAllele": "AG",
          "start": 3884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446161.1:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301929.1:p.Glu1220AlafsTer5",
        "hgvsWellDefined": "XP_024301929.1:p.[Glu1220_His1223del;Asp1225_Asp1228delinsLys;Ala1230_Val1236del;Asp1238_Glu1250del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579835"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2779,
          "referenceAllele": "AG",
          "start": 2777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "XM_024446162.1:c.-337_-336del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301930.1:n.-337_-336del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579836"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3857,
          "referenceAllele": "AG",
          "start": 3855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_022455.5:c.3659_3660del"
      ],
      "proteinEffect": {
        "hgvs": "NP_071900.2:p.Glu1220AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728582",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000439151.7:c.3659_3660del"
          },
          "RefSeq": {
            "hgvs": "NM_022455.5:c.3659_3660del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395929.2:p.Glu1220AlafsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_071900.2:p.Glu1220AlafsTer5"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3077,
          "referenceAllele": "AG",
          "start": 3075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NM_172349.3:c.2852_2853del"
      ],
      "proteinEffect": {
        "hgvs": "NP_758859.1:p.Glu951AlafsTer5"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729552"
    }
  ],
  "type": "nucleotide"
}