{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358352",
  "communityStandardTitle": [
    "NM_032485.6(MCM8):c.1470_1471insTA (p.Leu491TyrfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205372[alleleid]",
        "alleleId": 205372,
        "preferredName": "NM_032485.6(MCM8):c.1470_1471insTA (p.Leu491fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208811",
        "RCV": [
          "RCV000190839"
        ],
        "variationId": 208811
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.5958596_5958597insTA?assembly=hg19",
        "id": "chr20:g.5958596_5958597insTA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.5977950_5977951insTA?assembly=hg38",
        "id": "chr20:g.5977950_5977951insTA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/869320753",
        "rs": 869320753
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "TA",
          "end": 5977950,
          "referenceAllele": "",
          "start": 5977950
        }
      ],
      "hgvs": [
        "NC_000020.11:g.5977950_5977951insTA",
        "CM000682.2:g.5977950_5977951insTA"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "TA",
          "end": 5958596,
          "referenceAllele": "",
          "start": 5958596
        }
      ],
      "hgvs": [
        "NC_000020.10:g.5958596_5958597insTA",
        "CM000682.1:g.5958596_5958597insTA"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "TA",
          "end": 5906596,
          "referenceAllele": "",
          "start": 5906596
        }
      ],
      "hgvs": [
        "NC_000020.9:g.5906596_5906597insTA"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 32299,
          "referenceAllele": "",
          "start": 32299
        }
      ],
      "hgvs": [
        "NG_042869.1:g.32299_32300insTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1604,
          "referenceAllele": "",
          "start": 1604
        }
      ],
      "hgvs": [
        "ENST00000652720.1:c.1470_1471insTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498784.1:p.Leu491TyrfsTer?",
        "hgvsWellDefined": "ENSP00000498784.1:p.[Leu491_Ala501delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu503_Ala506delinsTrpLys;Leu509_Gly513delinsProTrpTyrLeuVal;Cys515_Asp518delinsLysValPheVal;Phe520delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772369"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1574,
          "referenceAllele": "",
          "start": 1574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "ENST00000265187.4:c.1422_1423insTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265187.4:p.Leu475TyrfsTer?",
        "hgvsWellDefined": "ENSP00000265187.4:p.[Leu475_Ala485delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu487_Ala490delinsTrpLys;Leu493_Gly497delinsProTrpTyrLeuVal;Cys499_Asp502delinsLysValPheVal;Phe504delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251692"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1706,
          "referenceAllele": "",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "ENST00000378883.5:c.1329_1330insTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368161.1:p.Leu444TyrfsTer?",
        "hgvsWellDefined": "ENSP00000368161.1:p.[Leu444_Ala454delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu456_Ala459delinsTrpLys;Leu462_Gly466delinsProTrpTyrLeuVal;Cys468_Asp471delinsLysValPheVal;Phe473delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272239"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1967,
          "referenceAllele": "",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "ENST00000378886.6:c.1590_1591insTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368164.2:p.Leu531TyrfsTer?",
        "hgvsWellDefined": "ENSP00000368164.2:p.[Leu531_Ala541delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu543_Ala546delinsTrpLys;Leu549_Gly553delinsProTrpTyrLeuVal;Cys555_Asp558delinsLysValPheVal;Phe560delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272240"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1901,
          "referenceAllele": "",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "ENST00000378896.7:c.1470_1471insTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368174.3:p.Leu491TyrfsTer?",
        "hgvsWellDefined": "ENSP00000368174.3:p.[Leu491_Ala501delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu503_Ala506delinsTrpLys;Leu509_Gly513delinsProTrpTyrLeuVal;Cys515_Asp518delinsLysValPheVal;Phe520delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272246"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1847,
          "referenceAllele": "",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "ENST00000610722.4:c.1470_1471insTA"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478141.1:p.Leu491TyrfsTer?",
        "hgvsWellDefined": "ENSP00000478141.1:p.[Leu491_Ala501delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu503_Ala506delinsTrpLys;Leu509_Gly513delinsProTrpTyrLeuVal;Cys515_Asp518delinsLysValPheVal;Phe520delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400542",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610722.4:c.1470_1471insTA"
          },
          "RefSeq": {
            "hgvs": "NM_032485.6:c.1470_1471insTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478141.1:p.Leu491TyrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_115874.3:p.Leu491TyrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1901,
          "referenceAllele": "",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_001281520.1:c.1470_1471insTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268449.1:p.Leu491TyrfsTer?",
        "hgvsWellDefined": "NP_001268449.1:p.[Leu491_Ala501delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu503_Ala506delinsTrpLys;Leu509_Gly513delinsProTrpTyrLeuVal;Cys515_Asp518delinsLysValPheVal;Phe520delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021669"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1967,
          "referenceAllele": "",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_001281521.1:c.1590_1591insTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268450.1:p.Leu531TyrfsTer?",
        "hgvsWellDefined": "NP_001268450.1:p.[Leu531_Ala541delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu543_Ala546delinsTrpLys;Leu549_Gly553delinsProTrpTyrLeuVal;Cys555_Asp558delinsLysValPheVal;Phe560delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021670"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1706,
          "referenceAllele": "",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_001281522.1:c.1329_1330insTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268451.1:p.Leu444TyrfsTer?",
        "hgvsWellDefined": "NP_001268451.1:p.[Leu444_Ala454delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu456_Ala459delinsTrpLys;Leu462_Gly466delinsProTrpTyrLeuVal;Cys468_Asp471delinsLysValPheVal;Phe473delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021671"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1847,
          "referenceAllele": "",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_032485.5:c.1470_1471insTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_115874.3:p.Leu491TyrfsTer?",
        "hgvsWellDefined": "NP_115874.3:p.[Leu491_Ala501delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu503_Ala506delinsTrpLys;Leu509_Gly513delinsProTrpTyrLeuVal;Cys515_Asp518delinsLysValPheVal;Phe520delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039120"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1853,
          "referenceAllele": "",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_182802.2:c.1422_1423insTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_877954.1:p.Leu475TyrfsTer?",
        "hgvsWellDefined": "NP_877954.1:p.[Leu475_Ala485delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu487_Ala490delinsTrpLys;Leu493_Gly497delinsProTrpTyrLeuVal;Cys499_Asp502delinsLysValPheVal;Phe504delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044135"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1810,
          "referenceAllele": "",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XM_011529387.1:c.1470_1471insTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527689.1:p.Leu491TyrfsTer?",
        "hgvsWellDefined": "XP_011527689.1:p.[Leu491_Ala501delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu503_Ala506delinsTrpLys;Leu509_Gly513delinsProTrpTyrLeuVal;Cys515_Asp518delinsLysValPheVal;Phe520delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096456"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1901,
          "referenceAllele": "",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XR_937169.1:n.1901_1902insTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132141"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1810,
          "referenceAllele": "",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XM_011529387.2:c.1470_1471insTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527689.1:p.Leu491TyrfsTer?",
        "hgvsWellDefined": "XP_011527689.1:p.[Leu491_Ala501delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu503_Ala506delinsTrpLys;Leu509_Gly513delinsProTrpTyrLeuVal;Cys515_Asp518delinsLysValPheVal;Phe520delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549488"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1996,
          "referenceAllele": "",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XM_017028105.1:c.1590_1591insTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883594.1:p.Leu531TyrfsTer?",
        "hgvsWellDefined": "XP_016883594.1:p.[Leu531_Ala541delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu543_Ala546delinsTrpLys;Leu549_Gly553delinsProTrpTyrLeuVal;Cys555_Asp558delinsLysValPheVal;Phe560delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577932"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1813,
          "referenceAllele": "",
          "start": 1813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XM_017028106.1:c.1278_1279insTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883595.1:p.Leu427TyrfsTer?",
        "hgvsWellDefined": "XP_016883595.1:p.[Leu427_Ala437delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu439_Ala442delinsTrpLys;Leu445_Gly449delinsProTrpTyrLeuVal;Cys451_Asp454delinsLysValPheVal;Phe456delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577933"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 2086,
          "referenceAllele": "",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XM_017028107.1:c.621_622insTA"
      ],
      "proteinEffect": {
        "hgvs": "XP_016883596.1:p.Leu208TyrfsTer?",
        "hgvsWellDefined": "XP_016883596.1:p.[Leu208_Ala218delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu220_Ala223delinsTrpLys;Leu226_Gly230delinsProTrpTyrLeuVal;Cys232_Asp235delinsLysValPheVal;Phe237delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577934"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1901,
          "referenceAllele": "",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XR_001754422.1:n.1901_1902insTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600569"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1638,
          "referenceAllele": "",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "XR_001754423.1:n.1638_1639insTA"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600570"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1847,
          "referenceAllele": "",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_032485.6:c.1470_1471insTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_115874.3:p.Leu491TyrfsTer?",
        "hgvsWellDefined": "NP_115874.3:p.[Leu491_Ala501delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu503_Ala506delinsTrpLys;Leu509_Gly513delinsProTrpTyrLeuVal;Cys515_Asp518delinsLysValPheVal;Phe520delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699118",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000610722.4:c.1470_1471insTA"
          },
          "RefSeq": {
            "hgvs": "NM_032485.6:c.1470_1471insTA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000478141.1:p.Leu491TyrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_115874.3:p.Leu491TyrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1853,
          "referenceAllele": "",
          "start": 1853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_182802.3:c.1422_1423insTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_877954.1:p.Leu475TyrfsTer?",
        "hgvsWellDefined": "NP_877954.1:p.[Leu475_Ala485delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu487_Ala490delinsTrpLys;Leu493_Gly497delinsProTrpTyrLeuVal;Cys499_Asp502delinsLysValPheVal;Phe504delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701130"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1901,
          "referenceAllele": "",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_001281520.2:c.1470_1471insTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268449.1:p.Leu491TyrfsTer?",
        "hgvsWellDefined": "NP_001268449.1:p.[Leu491_Ala501delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu503_Ala506delinsTrpLys;Leu509_Gly513delinsProTrpTyrLeuVal;Cys515_Asp518delinsLysValPheVal;Phe520delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715710"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1967,
          "referenceAllele": "",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_001281521.2:c.1590_1591insTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268450.1:p.Leu531TyrfsTer?",
        "hgvsWellDefined": "NP_001268450.1:p.[Leu531_Ala541delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu543_Ala546delinsTrpLys;Leu549_Gly553delinsProTrpTyrLeuVal;Cys555_Asp558delinsLysValPheVal;Phe560delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715711"
    },
    {
      "coordinates": [
        {
          "allele": "TA",
          "end": 1706,
          "referenceAllele": "",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016147",
      "geneNCBI_id": 84515,
      "geneSymbol": "MCM8",
      "hgvs": [
        "NM_001281522.2:c.1329_1330insTA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268451.1:p.Leu444TyrfsTer?",
        "hgvsWellDefined": "NP_001268451.1:p.[Leu444_Ala454delinsTyrPheGlnLysIleValProLeuGluIleLeu;Glu456_Ala459delinsTrpLys;Leu462_Gly466delinsProTrpTyrLeuVal;Cys468_Asp471delinsLysValPheVal;Phe473delinsSerMetAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715712"
    }
  ],
  "type": "nucleotide"
}