{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042894",
  "communityStandardTitle": [
    "NM_002755.4(MAP2K1):c.186_200del (p.Glu62_Asp66del)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360104[alleleid]",
        "alleleId": 360104,
        "preferredName": "NM_002755.4(MAP2K1):c.186_200del (p.Glu62_Asp66del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372929",
        "RCV": [
          "RCV000413323"
        ],
        "variationId": 372929
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.66727470_66727484del?assembly=hg19",
        "id": "chr15:g.66727470_66727484del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.66435132_66435146del?assembly=hg38",
        "id": "chr15:g.66435132_66435146del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518080",
        "rs": 1057518080
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 66435146,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 66435131
        }
      ],
      "hgvs": [
        "NC_000015.10:g.66435132_66435146del",
        "CM000677.2:g.66435132_66435146del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 66727484,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 66727469
        }
      ],
      "hgvs": [
        "NC_000015.9:g.66727470_66727484del",
        "CM000677.1:g.66727470_66727484del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "",
          "end": 64514538,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 64514523
        }
      ],
      "hgvs": [
        "NC_000015.8:g.64514524_64514538del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 53274,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 53259
        }
      ],
      "hgvs": [
        "NG_008305.1:g.53260_53274del",
        "LRG_725:g.53260_53274del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001015"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 189,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000684779.1:c.120_134del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508681.1:p.Glu40_Asp44del",
        "hgvsWellDefined": "ENSP00000508681.1:p.Glu40_Asp44del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829729"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 636,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000685172.1:c.186_200del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509604.1:p.Glu62_Asp66del",
        "hgvsWellDefined": "ENSP00000509604.1:p.Glu62_Asp66del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829920"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 636,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000685763.1:c.186_200del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509016.1:p.Glu62_Asp66del",
        "hgvsWellDefined": "ENSP00000509016.1:p.Glu62_Asp66del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830238"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 636,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000686347.1:c.186_200del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509027.1:p.Glu62_Asp66del",
        "hgvsWellDefined": "ENSP00000509027.1:p.Glu62_Asp66del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830524"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 636,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000687191.1:n.622_636del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830959"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 636,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000689951.1:c.186_200del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509308.1:p.Glu62_Asp66del",
        "hgvsWellDefined": "ENSP00000509308.1:p.Glu62_Asp66del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832460"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 636,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000691077.1:c.186_200del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509843.1:p.Glu62_Asp66del",
        "hgvsWellDefined": "ENSP00000509843.1:p.Glu62_Asp66del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833032"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 636,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000691576.1:c.186_200del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510066.1:p.Glu62_Asp66del",
        "hgvsWellDefined": "ENSP00000510066.1:p.Glu62_Asp66del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833280"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 636,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000691937.1:c.186_200del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508768.1:p.Glu62_Asp66del",
        "hgvsWellDefined": "ENSP00000508768.1:p.Glu62_Asp66del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833456"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 636,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000692487.1:c.186_200del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509534.1:p.Glu62_Asp66del",
        "hgvsWellDefined": "ENSP00000509534.1:p.Glu62_Asp66del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833741"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 327,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000692683.1:c.120_134del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508437.1:p.Glu40_Asp44del",
        "hgvsWellDefined": "ENSP00000508437.1:p.Glu40_Asp44del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833829"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 188,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000693150.1:c.120_134del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510309.1:p.Glu40_Asp44del",
        "hgvsWellDefined": "ENSP00000510309.1:p.Glu40_Asp44del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834086"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 636,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000307102.10:c.186_200del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302486.5:p.Glu62_Asp66del",
        "hgvsWellDefined": "ENSP00000302486.5:p.Glu62_Asp66del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745344",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307102.10:c.186_200del"
          },
          "RefSeq": {
            "hgvs": "NM_002755.4:c.186_200del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302486.5:p.Glu62_Asp66del"
          },
          "RefSeq": {
            "hgvs": "NP_002746.1:p.Glu62_Asp66del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 731,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000307102.9:c.186_200del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000302486.4:p.Glu62_Asp66del",
        "hgvsWellDefined": "ENSP00000302486.4:p.Glu62_Asp66del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255832"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 711,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "ENST00000425818.2:n.697_711del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS288931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057245961",
      "coordinates": [
        {
          "allele": "",
          "end": 675,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "NM_002755.3:c.186_200del",
        "LRG_725t1:c.186_200del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002746.1:p.Glu62_Asp66del",
        "hgvsWellDefined": "NP_002746.1:p.Glu62_Asp66del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028042"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 200,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_011521783.1:c.120_134del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520085.1:p.Glu40_Asp44del",
        "hgvsWellDefined": "XP_011520085.1:p.Glu40_Asp44del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088942"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 328,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_011521783.3:c.120_134del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520085.1:p.Glu40_Asp44del",
        "hgvsWellDefined": "XP_011520085.1:p.Glu40_Asp44del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546311"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 615,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_017022411.2:c.186_200del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877900.1:p.Glu62_Asp66del",
        "hgvsWellDefined": "XP_016877900.1:p.Glu62_Asp66del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573382"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 212,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "XM_017022412.1:c.120_134del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877901.1:p.Glu40_Asp44del",
        "hgvsWellDefined": "XP_016877901.1:p.Glu40_Asp44del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3057245961",
      "coordinates": [
        {
          "allele": "",
          "end": 636,
          "referenceAllele": "ACTGAAGGATGACGA",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006840",
      "geneNCBI_id": 5604,
      "geneSymbol": "MAP2K1",
      "hgvs": [
        "NM_002755.4:c.186_200del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002746.1:p.Glu62_Asp66del",
        "hgvsWellDefined": "NP_002746.1:p.Glu62_Asp66del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307102.10:c.186_200del"
          },
          "RefSeq": {
            "hgvs": "NM_002755.4:c.186_200del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302486.5:p.Glu62_Asp66del"
          },
          "RefSeq": {
            "hgvs": "NP_002746.1:p.Glu62_Asp66del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}