{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA563502799",
  "communityStandardTitle": [
    "NM_005219.5(DIAPH1):c.1845_1853dup (p.Pro618_Pro620dup)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=520822[alleleid]",
        "alleleId": 520822,
        "preferredName": "NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/542361",
        "RCV": [
          "RCV000652770",
          "RCV003918079",
          "RCV004025885"
        ],
        "variationId": 542361
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.140953564_140953572dup?assembly=hg19",
        "id": "chr5:g.140953564_140953572dup"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.140953569_140953570insGGAGGAGGA?assembly=hg19",
        "id": "chr5:g.140953569_140953570insGGAGGAGGA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.140953563_140953564insGGAGGAGGA?assembly=hg19",
        "id": "chr5:g.140953563_140953564insGGAGGAGGA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.141573997_141574005dup?assembly=hg38",
        "id": "chr5:g.141573997_141574005dup"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.141574002_141574003insGGAGGAGGA?assembly=hg38",
        "id": "chr5:g.141574002_141574003insGGAGGAGGA"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.141573996_141573997insGGAGGAGGA?assembly=hg38",
        "id": "chr5:g.141573996_141573997insGGAGGAGGA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3075570",
        "rs": 3075570
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-140953563-T-TGGAGGAGGA?dataset=gnomad_r2_1",
        "id": "5-140953563-T-TGGAGGAGGA",
        "variant": "5:140953563 T / TGGAGGAGGA"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-141573996-T-TGGAGGAGGA?dataset=gnomad_r3",
        "id": "5-141573996-T-TGGAGGAGGA",
        "variant": "5:141573996 T / TGGAGGAGGA"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/5-141573996-T-TGGAGGAGGA?dataset=gnomad_r4",
        "id": "5-141573996-T-TGGAGGAGGA",
        "variant": "5:141573996 T / TGGAGGAGGA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "GAGGAGGAG",
          "end": 141574030,
          "referenceAllele": "",
          "start": 141574030
        }
      ],
      "hgvs": [
        "NC_000005.10:g.141574022_141574030dup",
        "CM000667.2:g.141574022_141574030dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "GAGGAGGAG",
          "end": 140953597,
          "referenceAllele": "",
          "start": 140953597
        }
      ],
      "hgvs": [
        "NC_000005.9:g.140953589_140953597dup",
        "CM000667.1:g.140953589_140953597dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "GAGGAGGAG",
          "end": 140933781,
          "referenceAllele": "",
          "start": 140933781
        }
      ],
      "hgvs": [
        "NC_000005.8:g.140933773_140933781dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 50059,
          "referenceAllele": "",
          "start": 50059
        }
      ],
      "hgvs": [
        "NG_011594.1:g.50051_50059dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001842"
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 50059,
          "referenceAllele": "",
          "start": 50059
        }
      ],
      "hgvs": [
        "NG_011594.2:g.50051_50059dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673549"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1939,
          "referenceAllele": "",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000389054.8:c.1845_1853dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373706.4:p.Pro618_Pro619insProProPro",
        "hgvsWellDefined": "ENSP00000373706.4:p.Pro618_Pro620dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752781",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389054.8:c.1845_1853dup"
          },
          "RefSeq": {
            "hgvs": "NM_005219.5:c.1845_1853dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373706.4:p.Pro618_Pro619insProProPro"
          },
          "RefSeq": {
            "hgvs": "NP_005210.3:p.Pro618_Pro619insProProPro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1994,
          "referenceAllele": "",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000647433.1:c.1845_1853dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494675.1:p.Pro618_Pro619insProProPro",
        "hgvsWellDefined": "ENSP00000494675.1:p.Pro618_Pro620dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769409"
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1994,
          "referenceAllele": "",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000253811.10:c.1713_1721dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253811.7:p.Pro574_Pro575insProProPro",
        "hgvsWellDefined": "ENSP00000253811.7:p.Pro574_Pro576dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249960"
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1994,
          "referenceAllele": "",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000389054.7:c.1845_1853dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373706.4:p.Pro618_Pro619insProProPro",
        "hgvsWellDefined": "ENSP00000373706.4:p.Pro618_Pro620dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274138"
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1967,
          "referenceAllele": "",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000389057.9:c.1818_1826dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373709.6:p.Pro609_Pro610insProProPro",
        "hgvsWellDefined": "ENSP00000373709.6:p.Pro609_Pro611dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274139"
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1994,
          "referenceAllele": "",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000398557.8:c.1845_1853dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381565.5:p.Pro618_Pro619insProProPro",
        "hgvsWellDefined": "ENSP00000381565.5:p.Pro618_Pro620dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278324"
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1826,
          "referenceAllele": "",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "ENST00000518047.5:c.1818_1826dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428268.2:p.Pro609_Pro610insProProPro",
        "hgvsWellDefined": "ENSP00000428268.2:p.Pro609_Pro611dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446552",
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1967,
          "referenceAllele": "",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001079812.2:c.1818_1826dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073280.1:p.Pro609_Pro610insProProPro",
        "hgvsWellDefined": "NP_001073280.1:p.Pro609_Pro611dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826948950",
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1994,
          "referenceAllele": "",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001314007.1:c.1845_1853dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300936.1:p.Pro618_Pro619insProProPro",
        "hgvsWellDefined": "NP_001300936.1:p.Pro618_Pro620dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806947",
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1994,
          "referenceAllele": "",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_005219.4:c.1845_1853dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005210.3:p.Pro618_Pro619insProProPro",
        "hgvsWellDefined": "NP_005210.3:p.Pro618_Pro620dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030331"
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1832,
          "referenceAllele": "",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_011537572.1:c.1809_1817dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535874.1:p.Pro606_Pro607insProProPro",
        "hgvsWellDefined": "XP_011535874.1:p.Pro606_Pro608dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104536"
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1802,
          "referenceAllele": "",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_011537573.1:c.1779_1787dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535875.1:p.Pro596_Pro597insProProPro",
        "hgvsWellDefined": "XP_011535875.1:p.Pro596_Pro598dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104537"
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1994,
          "referenceAllele": "",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454384.1:c.1845_1853dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310152.1:p.Pro618_Pro619insProProPro",
        "hgvsWellDefined": "XP_024310152.1:p.Pro618_Pro620dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587746"
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1918,
          "referenceAllele": "",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454385.1:c.1818_1826dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310153.1:p.Pro609_Pro610insProProPro",
        "hgvsWellDefined": "XP_024310153.1:p.Pro609_Pro611dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587747"
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 2575,
          "referenceAllele": "",
          "start": 2575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454386.1:c.1809_1817dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310154.1:p.Pro606_Pro607insProProPro",
        "hgvsWellDefined": "XP_024310154.1:p.Pro606_Pro608dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587748"
    },
    {
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1802,
          "referenceAllele": "",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454387.1:c.1779_1787dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310155.1:p.Pro596_Pro597insProProPro",
        "hgvsWellDefined": "XP_024310155.1:p.Pro596_Pro598dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658806947",
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1939,
          "referenceAllele": "",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_005219.5:c.1845_1853dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_005210.3:p.Pro618_Pro619insProProPro",
        "hgvsWellDefined": "NP_005210.3:p.Pro618_Pro620dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666866",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389054.8:c.1845_1853dup"
          },
          "RefSeq": {
            "hgvs": "NM_005219.5:c.1845_1853dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373706.4:p.Pro618_Pro619insProProPro"
          },
          "RefSeq": {
            "hgvs": "NP_005210.3:p.Pro618_Pro619insProProPro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446552",
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1912,
          "referenceAllele": "",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001079812.3:c.1818_1826dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073280.1:p.Pro609_Pro610insProProPro",
        "hgvsWellDefined": "NP_001073280.1:p.Pro609_Pro611dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826948950",
      "coordinates": [
        {
          "allele": "CCTCCTCCT",
          "end": 1939,
          "referenceAllele": "",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001314007.2:c.1845_1853dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300936.1:p.Pro618_Pro619insProProPro",
        "hgvsWellDefined": "NP_001300936.1:p.Pro618_Pro620dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684120"
    }
  ],
  "type": "nucleotide"
}