{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10575522",
  "communityStandardTitle": [
    "NM_002473.6(MYH9):c.3195_3215dup (p.Gln1068_Leu1074dup)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29124[alleleid]",
        "alleleId": 29124,
        "preferredName": "NM_002473.6(MYH9):c.3195_3215dup (p.Gln1068_Leu1074dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14085",
        "RCV": [
          "RCV000015141"
        ],
        "variationId": 14085
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36692946_36692966dup21?assembly=hg19",
        "id": "chr22:g.36692946_36692966dup21"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36692945_36692946insGCGATCTGGGCCTGGAGCTCG?assembly=hg19",
        "id": "chr22:g.36692945_36692946insGCGATCTGGGCCTGGAGCTCG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36296900_36296920dup21?assembly=hg38",
        "id": "chr22:g.36296900_36296920dup21"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.36296899_36296900insGCGATCTGGGCCTGGAGCTCG?assembly=hg38",
        "id": "chr22:g.36296899_36296900insGCGATCTGGGCCTGGAGCTCG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876661302",
        "rs": 876661302
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "GCCTGGAGCTCGGCGATCTGG",
          "end": 36296929,
          "referenceAllele": "",
          "start": 36296929
        }
      ],
      "hgvs": [
        "NC_000022.11:g.36296909_36296929dup",
        "CM000684.2:g.36296909_36296929dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "GCCTGGAGCTCGGCGATCTGG",
          "end": 36692975,
          "referenceAllele": "",
          "start": 36692975
        }
      ],
      "hgvs": [
        "NC_000022.10:g.36692955_36692975dup",
        "CM000684.1:g.36692955_36692975dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "GCCTGGAGCTCGGCGATCTGG",
          "end": 35022921,
          "referenceAllele": "",
          "start": 35022921
        }
      ],
      "hgvs": [
        "NC_000022.9:g.35022901_35022921dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 96119,
          "referenceAllele": "",
          "start": 96119
        }
      ],
      "hgvs": [
        "NG_011884.2:g.96099_96119dup",
        "LRG_567:g.96099_96119dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002047"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 3492,
          "referenceAllele": "",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000685801.1:c.3258_3278dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510688.1:p.Ala1093_Glu1094insGluLeuGlnAlaGlnIleAla",
        "hgvsWellDefined": "ENSP00000510688.1:p.Gln1089_Leu1095dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830256"
    },
    {
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 3510,
          "referenceAllele": "",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000691109.1:n.3490_3510dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833046"
    },
    {
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 3395,
          "referenceAllele": "",
          "start": 3395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.11:c.3195_3215dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.6:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla",
        "hgvsWellDefined": "ENSP00000216181.6:p.Gln1068_Leu1074dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.3195_3215dup"
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.3195_3215dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla"
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 3446,
          "referenceAllele": "",
          "start": 3446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000216181.9:c.3195_3215dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216181.5:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla",
        "hgvsWellDefined": "ENSP00000216181.5:p.Gln1068_Leu1074dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247963"
    },
    {
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 424,
          "referenceAllele": "",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "ENST00000459960.1:n.404_424dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS304809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645393281",
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 3495,
          "referenceAllele": "",
          "start": 3495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.5:c.3195_3215dup",
        "LRG_567t1:c.3195_3215dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla",
        "hgvsWellDefined": "NP_002464.1:p.Gln1068_Leu1074dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027775"
    },
    {
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 3350,
          "referenceAllele": "",
          "start": 3350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.1:c.3195_3215dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla",
        "hgvsWellDefined": "XP_011528499.1:p.Gln1068_Leu1074dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097255"
    },
    {
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 3350,
          "referenceAllele": "",
          "start": 3350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_011530197.2:c.3195_3215dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528499.1:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla",
        "hgvsWellDefined": "XP_011528499.1:p.Gln1068_Leu1074dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549859"
    },
    {
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 3250,
          "referenceAllele": "",
          "start": 3250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028803.1:c.3195_3215dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884292.1:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla",
        "hgvsWellDefined": "XP_016884292.1:p.Gln1068_Leu1074dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578462"
    },
    {
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 3250,
          "referenceAllele": "",
          "start": 3250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028804.1:c.3195_3215dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884293.1:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla",
        "hgvsWellDefined": "XP_016884293.1:p.Gln1068_Leu1074dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578463"
    },
    {
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 3250,
          "referenceAllele": "",
          "start": 3250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028805.1:c.3195_3215dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884294.1:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla",
        "hgvsWellDefined": "XP_016884294.1:p.Gln1068_Leu1074dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578464"
    },
    {
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 3250,
          "referenceAllele": "",
          "start": 3250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "XM_017028806.1:c.3195_3215dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884295.1:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla",
        "hgvsWellDefined": "XP_016884295.1:p.Gln1068_Leu1074dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645393281",
      "coordinates": [
        {
          "allele": "GGCCCAGATCGCCGAGCTCCA",
          "end": 3395,
          "referenceAllele": "",
          "start": 3395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007579",
      "geneNCBI_id": 4627,
      "geneSymbol": "MYH9",
      "hgvs": [
        "NM_002473.6:c.3195_3215dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_002464.1:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla",
        "hgvsWellDefined": "NP_002464.1:p.Gln1068_Leu1074dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695552",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216181.11:c.3195_3215dup"
          },
          "RefSeq": {
            "hgvs": "NM_002473.6:c.3195_3215dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216181.6:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla"
          },
          "RefSeq": {
            "hgvs": "NP_002464.1:p.Ala1072_Glu1073insGluLeuGlnAlaGlnIleAla"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}