{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA201843129",
  "communityStandardTitle": [
    "NM_024757.5(EHMT1):c.2878_2881del (p.Ser960GlyfsTer7)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.140707468_140707471del?assembly=hg19",
        "id": "chr9:g.140707468_140707471del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.137813016_137813019del?assembly=hg38",
        "id": "chr9:g.137813016_137813019del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852723",
        "rs": 137852723
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 137813019,
          "referenceAllele": "TCTC",
          "start": 137813015
        }
      ],
      "hgvs": [
        "NC_000009.12:g.137813016_137813019del",
        "CM000671.2:g.137813016_137813019del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 140707471,
          "referenceAllele": "TCTC",
          "start": 140707467
        }
      ],
      "hgvs": [
        "NC_000009.11:g.140707468_140707471del",
        "CM000671.1:g.140707468_140707471del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "",
          "end": 139827292,
          "referenceAllele": "TCTC",
          "start": 139827288
        }
      ],
      "hgvs": [
        "NC_000009.10:g.139827289_139827292del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 199028,
          "referenceAllele": "TCTC",
          "start": 199024
        }
      ],
      "hgvs": [
        "NG_011776.1:g.199025_199028del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001960"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2905,
          "referenceAllele": "TCTC",
          "start": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "ENST00000460843.6:c.2878_2881del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417980.1:p.Ser960GlyfsTer7",
        "hgvsWellDefined": "ENSP00000417980.1:p.[Ser960_Glu971del;Glu973_Leu976delinsIle;Cys978_Ala979delinsMet;Leu981_Gln990delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000460843.6:c.2878_2881del"
          },
          "RefSeq": {
            "hgvs": "NM_024757.5:c.2878_2881del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417980.1:p.Ser960GlyfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_079033.4:p.Ser960GlyfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2936,
          "referenceAllele": "TCTC",
          "start": 2932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "ENST00000636027.1:c.2764_2767del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489961.1:p.Ser922GlyfsTer7",
        "hgvsWellDefined": "ENSP00000489961.1:p.[Ser922_Glu933del;Glu935_Leu938delinsIle;Cys940_Ala941delinsMet;Leu943_Gln952delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762820"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2886,
          "referenceAllele": "TCTC",
          "start": 2882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "ENST00000637161.1:c.2785_2788del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490328.1:p.Ser929GlyfsTer7",
        "hgvsWellDefined": "ENSP00000490328.1:p.[Ser929_Glu940del;Glu942_Leu945delinsIle;Cys947_Ala948delinsMet;Leu950_Gln959delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2921,
          "referenceAllele": "TCTC",
          "start": 2917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "ENST00000637261.1:c.2918_2921del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490815.1:n.2918_2921del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763735"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 775,
          "referenceAllele": "TCTC",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "ENST00000637891.1:c.772_775del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490907.1:p.Ser258GlyfsTer7",
        "hgvsWellDefined": "ENSP00000490907.1:p.[Ser258_Glu269del;Glu271_Leu274delinsIle;Cys276_Ala277delinsMet;Leu279_Gln288delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764187"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2947,
          "referenceAllele": "TCTC",
          "start": 2943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "ENST00000460843.5:c.2878_2881del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417980.1:p.Ser960GlyfsTer7",
        "hgvsWellDefined": "ENSP00000417980.1:p.[Ser960_Glu971del;Glu973_Leu976delinsIle;Cys978_Ala979delinsMet;Leu981_Gln990delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305493"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1738,
          "referenceAllele": "TCTC",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "ENST00000462942.3:c.1735_1738del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436107.1:p.Ser579GlyfsTer7",
        "hgvsWellDefined": "ENSP00000436107.1:p.[Ser579_Glu590del;Glu592_Leu595delinsIle;Cys597_Ala598delinsMet;Leu600_Gln609delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307083"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 568,
          "referenceAllele": "TCTC",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "ENST00000486164.5:c.565_568del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325037"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 407,
          "referenceAllele": "TCTC",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "ENST00000488242.2:n.404_407del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326594"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2918,
          "referenceAllele": "TCTC",
          "start": 2914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "NM_024757.4:c.2878_2881del"
      ],
      "proteinEffect": {
        "hgvs": "NP_079033.4:p.Ser960GlyfsTer7",
        "hgvsWellDefined": "NP_079033.4:p.[Ser960_Glu971del;Glu973_Leu976delinsIle;Cys978_Ala979delinsMet;Leu981_Gln990delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037991"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2946,
          "referenceAllele": "TCTC",
          "start": 2942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_005266105.3:c.2869_2872del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266162.1:p.Ser957GlyfsTer7",
        "hgvsWellDefined": "XP_005266162.1:p.[Ser957_Glu968del;Glu970_Leu973delinsIle;Cys975_Ala976delinsMet;Leu978_Gln987delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064916"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2833,
          "referenceAllele": "TCTC",
          "start": 2829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_005266110.1:c.2785_2788del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266167.1:p.Ser929GlyfsTer7",
        "hgvsWellDefined": "XP_005266167.1:p.[Ser929_Glu940del;Glu942_Leu945delinsIle;Cys947_Ala948delinsMet;Leu950_Gln959delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064917"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2879,
          "referenceAllele": "TCTC",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_006717288.2:c.2860_2863del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717351.1:p.Ser954GlyfsTer7",
        "hgvsWellDefined": "XP_006717351.1:p.[Ser954_Glu965del;Glu967_Leu970delinsIle;Cys972_Ala973delinsMet;Leu975_Gln984delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072095"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2905,
          "referenceAllele": "TCTC",
          "start": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519021.1:c.2887_2890del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517323.1:p.Ser963GlyfsTer7",
        "hgvsWellDefined": "XP_011517323.1:p.[Ser963_Glu974del;Glu976_Leu979delinsIle;Cys981_Ala982delinsMet;Leu984_Gln993delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086194"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2902,
          "referenceAllele": "TCTC",
          "start": 2898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519022.1:c.2884_2887del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517324.1:p.Ser962GlyfsTer7",
        "hgvsWellDefined": "XP_011517324.1:p.[Ser962_Glu973del;Glu975_Leu978delinsIle;Cys980_Ala981delinsMet;Leu983_Gln992delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086195"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2884,
          "referenceAllele": "TCTC",
          "start": 2880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519023.1:c.2866_2869del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517325.1:p.Ser956GlyfsTer7",
        "hgvsWellDefined": "XP_011517325.1:p.[Ser956_Glu967del;Glu969_Leu972delinsIle;Cys974_Ala975delinsMet;Leu977_Gln986delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086196"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2827,
          "referenceAllele": "TCTC",
          "start": 2823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519024.1:c.2809_2812del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517326.1:p.Ser937GlyfsTer7",
        "hgvsWellDefined": "XP_011517326.1:p.[Ser937_Glu948del;Glu950_Leu953delinsIle;Cys955_Ala956delinsMet;Leu958_Gln967delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086197"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3081,
          "referenceAllele": "TCTC",
          "start": 3077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519025.1:c.2785_2788del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517327.1:p.Ser929GlyfsTer7",
        "hgvsWellDefined": "XP_011517327.1:p.[Ser929_Glu940del;Glu942_Leu945delinsIle;Cys947_Ala948delinsMet;Leu950_Gln959delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086198"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2761,
          "referenceAllele": "TCTC",
          "start": 2757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519026.1:c.2743_2746del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517328.1:p.Ser915GlyfsTer7",
        "hgvsWellDefined": "XP_011517328.1:p.[Ser915_Glu926del;Glu928_Leu931delinsIle;Cys933_Ala934delinsMet;Leu936_Gln945delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086199"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1468,
          "referenceAllele": "TCTC",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519029.1:c.1309_1312del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517331.1:p.Ser437GlyfsTer7",
        "hgvsWellDefined": "XP_011517331.1:p.[Ser437_Glu448del;Glu450_Leu453delinsIle;Cys455_Ala456delinsMet;Leu458_Gln467delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086202"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 680,
          "referenceAllele": "TCTC",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519030.1:c.661_664del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517332.1:p.Ser221GlyfsTer7",
        "hgvsWellDefined": "XP_011517332.1:p.[Ser221_Glu232del;Glu234_Leu237delinsIle;Cys239_Ala240delinsMet;Leu242_Gln251delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086203"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 559,
          "referenceAllele": "TCTC",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519031.1:c.448_451del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517333.1:p.Ser150GlyfsTer7",
        "hgvsWellDefined": "XP_011517333.1:p.[Ser150_Glu161del;Glu163_Leu166delinsIle;Cys168_Ala169delinsMet;Leu171_Gln180delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086204"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 520,
          "referenceAllele": "TCTC",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519032.1:c.448_451del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517334.1:p.Ser150GlyfsTer7",
        "hgvsWellDefined": "XP_011517334.1:p.[Ser150_Glu161del;Glu163_Leu166delinsIle;Cys168_Ala169delinsMet;Leu171_Gln180delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086205"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2740,
          "referenceAllele": "TCTC",
          "start": 2736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519033.1:c.2722_2725del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517335.1:p.Ser908GlyfsTer7",
        "hgvsWellDefined": "XP_011517335.1:p.[Ser908_Glu919del;Glu921_Leu924delinsIle;Cys926_Ala927delinsMet;Leu929_Gln938delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086206"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2897,
          "referenceAllele": "TCTC",
          "start": 2893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "NM_001354263.1:c.2857_2860del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341192.1:p.Ser953GlyfsTer7",
        "hgvsWellDefined": "NP_001341192.1:p.[Ser953_Glu964del;Glu966_Leu969delinsIle;Cys971_Ala972delinsMet;Leu974_Gln983delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522271"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2960,
          "referenceAllele": "TCTC",
          "start": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_005266105.5:c.2869_2872del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266162.1:p.Ser957GlyfsTer7",
        "hgvsWellDefined": "XP_005266162.1:p.[Ser957_Glu968del;Glu970_Leu973delinsIle;Cys975_Ala976delinsMet;Leu978_Gln987delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536171"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3057,
          "referenceAllele": "TCTC",
          "start": 3053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519021.3:c.2887_2890del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517323.1:p.Ser963GlyfsTer7",
        "hgvsWellDefined": "XP_011517323.1:p.[Ser963_Glu974del;Glu976_Leu979delinsIle;Cys981_Ala982delinsMet;Leu984_Gln993delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545172"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3370,
          "referenceAllele": "TCTC",
          "start": 3366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519022.3:c.2884_2887del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517324.1:p.Ser962GlyfsTer7",
        "hgvsWellDefined": "XP_011517324.1:p.[Ser962_Glu973del;Glu975_Leu978delinsIle;Cys980_Ala981delinsMet;Leu983_Gln992delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545173"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3036,
          "referenceAllele": "TCTC",
          "start": 3032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519023.3:c.2866_2869del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517325.1:p.Ser956GlyfsTer7",
        "hgvsWellDefined": "XP_011517325.1:p.[Ser956_Glu967del;Glu969_Leu972delinsIle;Cys974_Ala975delinsMet;Leu977_Gln986delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545174"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1505,
          "referenceAllele": "TCTC",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519029.3:c.1309_1312del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517331.1:p.Ser437GlyfsTer7",
        "hgvsWellDefined": "XP_011517331.1:p.[Ser437_Glu448del;Glu450_Leu453delinsIle;Cys455_Ala456delinsMet;Leu458_Gln467delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545175"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1169,
          "referenceAllele": "TCTC",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519030.3:c.661_664del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517332.1:p.Ser221GlyfsTer7",
        "hgvsWellDefined": "XP_011517332.1:p.[Ser221_Glu232del;Glu234_Leu237delinsIle;Cys239_Ala240delinsMet;Leu242_Gln251delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545176"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3349,
          "referenceAllele": "TCTC",
          "start": 3345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_017015134.1:c.2863_2866del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870623.1:p.Ser955GlyfsTer7",
        "hgvsWellDefined": "XP_016870623.1:p.[Ser955_Glu966del;Glu968_Leu971delinsIle;Cys973_Ala974delinsMet;Leu976_Gln985delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567939"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2810,
          "referenceAllele": "TCTC",
          "start": 2806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_017015136.2:c.2779_2782del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870625.1:p.Ser927GlyfsTer7",
        "hgvsWellDefined": "XP_016870625.1:p.[Ser927_Glu938del;Glu940_Leu943delinsIle;Cys945_Ala946delinsMet;Leu948_Gln957delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567940"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3060,
          "referenceAllele": "TCTC",
          "start": 3056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_017015137.1:c.2764_2767del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870626.1:p.Ser922GlyfsTer7",
        "hgvsWellDefined": "XP_016870626.1:p.[Ser922_Glu933del;Glu935_Leu938delinsIle;Cys940_Ala941delinsMet;Leu943_Gln952delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567941"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2812,
          "referenceAllele": "TCTC",
          "start": 2808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_017015138.1:c.2764_2767del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870627.1:p.Ser922GlyfsTer7",
        "hgvsWellDefined": "XP_016870627.1:p.[Ser922_Glu933del;Glu935_Leu938delinsIle;Cys940_Ala941delinsMet;Leu943_Gln952delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567942"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2782,
          "referenceAllele": "TCTC",
          "start": 2778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_024447674.1:c.2707_2710del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303442.1:p.Ser903GlyfsTer7",
        "hgvsWellDefined": "XP_024303442.1:p.[Ser903_Glu914del;Glu916_Leu919delinsIle;Cys921_Ala922delinsMet;Leu924_Gln933delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581255"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2716,
          "referenceAllele": "TCTC",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_024447675.1:c.2641_2644del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303443.1:p.Ser881GlyfsTer7",
        "hgvsWellDefined": "XP_024303443.1:p.[Ser881_Glu892del;Glu894_Leu897delinsIle;Cys899_Ala900delinsMet;Leu902_Gln911delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581256"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2636,
          "referenceAllele": "TCTC",
          "start": 2632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_024447676.1:c.2002_2005del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303444.1:p.Ser668GlyfsTer7",
        "hgvsWellDefined": "XP_024303444.1:p.[Ser668_Glu679del;Glu681_Leu684delinsIle;Cys686_Ala687delinsMet;Leu689_Gln698delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581257"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2615,
          "referenceAllele": "TCTC",
          "start": 2611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_024447677.1:c.2002_2005del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303445.1:p.Ser668GlyfsTer7",
        "hgvsWellDefined": "XP_024303445.1:p.[Ser668_Glu679del;Glu681_Leu684delinsIle;Cys686_Ala687delinsMet;Leu689_Gln698delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581258"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2695,
          "referenceAllele": "TCTC",
          "start": 2691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_024447680.1:c.2620_2623del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303448.1:p.Ser874GlyfsTer7",
        "hgvsWellDefined": "XP_024303448.1:p.[Ser874_Glu885del;Glu887_Leu890delinsIle;Cys892_Ala893delinsMet;Leu895_Gln904delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581261"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2905,
          "referenceAllele": "TCTC",
          "start": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "NM_024757.5:c.2878_2881del"
      ],
      "proteinEffect": {
        "hgvs": "NP_079033.4:p.Ser960GlyfsTer7",
        "hgvsWellDefined": "NP_079033.4:p.[Ser960_Glu971del;Glu973_Leu976delinsIle;Cys978_Ala979delinsMet;Leu981_Gln990delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670782",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000460843.6:c.2878_2881del"
          },
          "RefSeq": {
            "hgvs": "NM_024757.5:c.2878_2881del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417980.1:p.Ser960GlyfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_079033.4:p.Ser960GlyfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2884,
          "referenceAllele": "TCTC",
          "start": 2880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "NM_001354263.2:c.2857_2860del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341192.1:p.Ser953GlyfsTer7",
        "hgvsWellDefined": "NP_001341192.1:p.[Ser953_Glu964del;Glu966_Leu969delinsIle;Cys971_Ala972delinsMet;Leu974_Gln983delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690127"
    }
  ],
  "type": "nucleotide"
}