{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2825002001",
  "communityStandardTitle": [
    "NM_001197104.2(KMT2A):c.5824_5827del (p.Pro1942GlufsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3228508[alleleid]",
        "alleleId": 3228508,
        "preferredName": "NM_001197104.2(KMT2A):c.5824_5827del (p.Pro1942fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3069183",
        "RCV": [
          "RCV004006240"
        ],
        "variationId": 3069183
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2496961089",
        "rs": 2496961089
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 118498394,
          "referenceAllele": "CCAG",
          "start": 118498390
        }
      ],
      "hgvs": [
        "NC_000011.10:g.118498391_118498394del",
        "CM000673.2:g.118498391_118498394del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 118369109,
          "referenceAllele": "CCAG",
          "start": 118369105
        }
      ],
      "hgvs": [
        "NC_000011.9:g.118369106_118369109del",
        "CM000673.1:g.118369106_118369109del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "",
          "end": 117874319,
          "referenceAllele": "CCAG",
          "start": 117874315
        }
      ],
      "hgvs": [
        "NC_000011.8:g.117874316_117874319del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 66905,
          "referenceAllele": "CCAG",
          "start": 66901
        }
      ],
      "hgvs": [
        "NG_027813.1:g.66902_66905del",
        "LRG_613:g.66902_66905del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003978"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5947,
          "referenceAllele": "CCAG",
          "start": 5943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000531904.7:c.5923_5926del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432391.3:p.Pro1975GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914243"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5973,
          "referenceAllele": "CCAG",
          "start": 5969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000710560.1:c.5914_5917del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518343.1:p.Pro1972GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914540"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 163,
          "referenceAllele": "CCAG",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000689424.1:c.160_163del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509852.1:p.Pro54GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832161"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5907,
          "referenceAllele": "CCAG",
          "start": 5903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000691053.1:c.5896_5899del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509168.1:p.Pro1966GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5841,
          "referenceAllele": "CCAG",
          "start": 5837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000389506.10:c.5815_5818del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374157.5:p.Pro1939GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752814"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2908,
          "referenceAllele": "CCAG",
          "start": 2904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000528278.2:n.2905_2908del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759072"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5848,
          "referenceAllele": "CCAG",
          "start": 5844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000534358.8:c.5824_5827del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436786.2:p.Pro1942GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759393",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000534358.8:c.5824_5827del"
          },
          "RefSeq": {
            "hgvs": "NM_001197104.2:c.5824_5827del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436786.2:p.Pro1942GlufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001184033.1:p.Pro1942GlufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5704,
          "referenceAllele": "CCAG",
          "start": 5700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000649699.1:c.5701_5704del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496927.1:p.Pro1901GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770690"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5818,
          "referenceAllele": "CCAG",
          "start": 5814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000389506.9:c.5815_5818del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374157.5:p.Pro1939GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274225"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5850,
          "referenceAllele": "CCAG",
          "start": 5846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "ENST00000534358.5:c.5824_5827del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436786.1:p.Pro1942GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358979"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5850,
          "referenceAllele": "CCAG",
          "start": 5846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_001197104.1:c.5824_5827del",
        "LRG_613t1:c.5824_5827del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184033.1:p.Pro1942GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016695"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5841,
          "referenceAllele": "CCAG",
          "start": 5837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_005933.3:c.5815_5818del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005924.2:p.Pro1939GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030989"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3325,
          "referenceAllele": "CCAG",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_006718839.2:c.3307_3310del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718902.2:p.Pro1103GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072816"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5941,
          "referenceAllele": "CCAG",
          "start": 5937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542829.1:c.5923_5926del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541131.1:p.Pro1975GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109758"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5938,
          "referenceAllele": "CCAG",
          "start": 5934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542830.1:c.5920_5923del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541132.1:p.Pro1974GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109759"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5932,
          "referenceAllele": "CCAG",
          "start": 5928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542831.1:c.5914_5917del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541133.1:p.Pro1972GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109760"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3748,
          "referenceAllele": "CCAG",
          "start": 3744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542832.1:c.3730_3733del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541134.1:p.Pro1244GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109761"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3424,
          "referenceAllele": "CCAG",
          "start": 3420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542833.1:c.3406_3409del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541135.1:p.Pro1136GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109762"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3325,
          "referenceAllele": "CCAG",
          "start": 3321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_006718839.3:c.3307_3310del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718902.2:p.Pro1103GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539720"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5941,
          "referenceAllele": "CCAG",
          "start": 5937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542829.2:c.5923_5926del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541131.1:p.Pro1975GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554940"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5938,
          "referenceAllele": "CCAG",
          "start": 5934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542830.2:c.5920_5923del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541132.1:p.Pro1974GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554941"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5932,
          "referenceAllele": "CCAG",
          "start": 5928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542831.2:c.5914_5917del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541133.1:p.Pro1972GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554942"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3424,
          "referenceAllele": "CCAG",
          "start": 3420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542833.2:c.3406_3409del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541135.1:p.Pro1136GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554943"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5848,
          "referenceAllele": "CCAG",
          "start": 5844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_001197104.2:c.5824_5827del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001184033.1:p.Pro1942GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000534358.8:c.5824_5827del"
          },
          "RefSeq": {
            "hgvs": "NM_001197104.2:c.5824_5827del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436786.2:p.Pro1942GlufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001184033.1:p.Pro1942GlufsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5839,
          "referenceAllele": "CCAG",
          "start": 5835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "NM_005933.4:c.5815_5818del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005924.2:p.Pro1939GlufsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696566"
    }
  ],
  "type": "nucleotide"
}