{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2963028217",
  "communityStandardTitle": [
    "NM_001364171.2(ODAD1):c.1419_1420del (p.Ala474ArgfsTer25)"
  ],
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 48298083,
          "referenceAllele": "CC",
          "start": 48298081
        }
      ],
      "hgvs": [
        "NC_000019.10:g.48298082_48298083del",
        "CM000681.2:g.48298082_48298083del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 48801340,
          "referenceAllele": "CC",
          "start": 48801338
        }
      ],
      "hgvs": [
        "NC_000019.9:g.48801339_48801340del",
        "CM000681.1:g.48801339_48801340del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "",
          "end": 53493152,
          "referenceAllele": "CC",
          "start": 53493150
        }
      ],
      "hgvs": [
        "NC_000019.8:g.53493151_53493152del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 26994,
          "referenceAllele": "GG",
          "start": 26992
        }
      ],
      "hgvs": [
        "NG_033251.1:g.26993_26994del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005492"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1696,
          "referenceAllele": "GG",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "ENST00000474199.6:c.1419_1420del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501357.1:p.Ala474ArgfsTer25",
        "hgvsWellDefined": "ENSP00000501357.1:p.[Ala474_Leu481delinsArgArgCysProProSerAla;Gln483_Leu485delinsPro;Asp487_Leu488del;Lys490_Pro497delinsGlyGlyProSerGluGluAspGly;Asp499del;Leu501_Asp503delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757112"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1920,
          "endIntronDirection": "+",
          "endIntronOffset": 95,
          "referenceAllele": "GG",
          "start": 1920,
          "startIntronDirection": "+",
          "startIntronOffset": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "ENST00000674207.1:c.*1112+94_*1112+95del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501374.1:n.*1112+94_*1112+95del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774215"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1777,
          "referenceAllele": "GG",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "ENST00000674294.1:c.1419_1420del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501363.1:p.Ala474ArgfsTer25",
        "hgvsWellDefined": "ENSP00000501363.1:p.[Ala474_Leu481delinsArgArgCysProProSerAla;Gln483_Leu485delinsPro;Asp487_Leu488del;Lys490_Pro497delinsGlyGlyProSerGluGluAspGly;Asp499del;Leu501_Asp503delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674294.1:c.1419_1420del"
          },
          "RefSeq": {
            "hgvs": "NM_001364171.2:c.1419_1420del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501363.1:p.Ala474ArgfsTer25"
          },
          "RefSeq": {
            "hgvs": "NP_001351100.1:p.Ala474ArgfsTer25"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1992,
          "referenceAllele": "GG",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "ENST00000315396.7:c.1308_1309del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000318429.7:p.Ala437ArgfsTer25",
        "hgvsWellDefined": "ENSP00000318429.7:p.[Ala437_Leu444delinsArgArgCysProProSerAla;Gln446_Leu448delinsPro;Asp450_Leu451del;Lys453_Pro460delinsGlyGlyProSerGluGluAspGly;Asp462del;Leu464_Asp466delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257079"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1437,
          "referenceAllele": "GG",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "ENST00000474199.5:n.1436_1437del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315760"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 836,
          "referenceAllele": "GG",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "ENST00000497273.1:n.835_836del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333541"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1992,
          "referenceAllele": "GG",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "NM_144577.3:c.1308_1309del"
      ],
      "proteinEffect": {
        "hgvs": "NP_653178.3:p.Ala437ArgfsTer25",
        "hgvsWellDefined": "NP_653178.3:p.[Ala437_Leu444delinsArgArgCysProProSerAla;Gln446_Leu448delinsPro;Asp450_Leu451del;Lys453_Pro460delinsGlyGlyProSerGluGluAspGly;Asp462del;Leu464_Asp466delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041106"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1700,
          "referenceAllele": "GG",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259413.2:c.1419_1420del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259470.1:p.Ala474ArgfsTer25",
        "hgvsWellDefined": "XP_005259470.1:p.[Ala474_Leu481delinsArgArgCysProProSerAla;Gln483_Leu485delinsPro;Asp487_Leu488del;Lys490_Pro497delinsGlyGlyProSerGluGluAspGly;Asp499del;Leu501_Asp503delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062426"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1696,
          "referenceAllele": "GG",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259414.2:c.1419_1420del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259471.1:p.Ala474ArgfsTer25",
        "hgvsWellDefined": "XP_005259471.1:p.[Ala474_Leu481delinsArgArgCysProProSerAla;Gln483_Leu485delinsPro;Asp487_Leu488del;Lys490_Pro497delinsGlyGlyProSerGluGluAspGly;Asp499del;Leu501_Asp503delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062427"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1714,
          "referenceAllele": "GG",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259415.2:c.1419_1420del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259472.1:p.Ala474ArgfsTer25",
        "hgvsWellDefined": "XP_005259472.1:p.[Ala474_Leu481delinsArgArgCysProProSerAla;Gln483_Leu485delinsPro;Asp487_Leu488del;Lys490_Pro497delinsGlyGlyProSerGluGluAspGly;Asp499del;Leu501_Asp503delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062428"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 843,
          "referenceAllele": "GG",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259416.3:c.735_736del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259473.1:p.Ala246ArgfsTer25",
        "hgvsWellDefined": "XP_005259473.1:p.[Ala246_Leu253delinsArgArgCysProProSerAla;Gln255_Leu257delinsPro;Asp259_Leu260del;Lys262_Pro269delinsGlyGlyProSerGluGluAspGly;Asp271del;Leu273_Asp275delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062429"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2645,
          "referenceAllele": "GG",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_011527515.1:c.1308_1309del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525817.1:p.Ala437ArgfsTer25",
        "hgvsWellDefined": "XP_011525817.1:p.[Ala437_Leu444delinsArgArgCysProProSerAla;Gln446_Leu448delinsPro;Asp450_Leu451del;Lys453_Pro460delinsGlyGlyProSerGluGluAspGly;Asp462del;Leu464_Asp466delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094609"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1480,
          "referenceAllele": "GG",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_011527516.1:c.1308_1309del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525818.1:p.Ala437ArgfsTer25",
        "hgvsWellDefined": "XP_011525818.1:p.[Ala437_Leu444delinsArgArgCysProProSerAla;Gln446_Leu448delinsPro;Asp450_Leu451del;Lys453_Pro460delinsGlyGlyProSerGluGluAspGly;Asp462del;Leu464_Asp466delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094610"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1777,
          "referenceAllele": "GG",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "NM_001364171.1:c.1419_1420del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351100.1:p.Ala474ArgfsTer25",
        "hgvsWellDefined": "NP_001351100.1:p.[Ala474_Leu481delinsArgArgCysProProSerAla;Gln483_Leu485delinsPro;Asp487_Leu488del;Lys490_Pro497delinsGlyGlyProSerGluGluAspGly;Asp499del;Leu501_Asp503delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523742"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1416,
          "referenceAllele": "GG",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "NM_144577.4:c.1308_1309del"
      ],
      "proteinEffect": {
        "hgvs": "NP_653178.3:p.Ala437ArgfsTer25",
        "hgvsWellDefined": "NP_653178.3:p.[Ala437_Leu444delinsArgArgCysProProSerAla;Gln446_Leu448delinsPro;Asp450_Leu451del;Lys453_Pro460delinsGlyGlyProSerGluGluAspGly;Asp462del;Leu464_Asp466delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526556"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1696,
          "referenceAllele": "GG",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259414.3:c.1419_1420del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259471.1:p.Ala474ArgfsTer25",
        "hgvsWellDefined": "XP_005259471.1:p.[Ala474_Leu481delinsArgArgCysProProSerAla;Gln483_Leu485delinsPro;Asp487_Leu488del;Lys490_Pro497delinsGlyGlyProSerGluGluAspGly;Asp499del;Leu501_Asp503delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1714,
          "referenceAllele": "GG",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259415.3:c.1419_1420del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259472.1:p.Ala474ArgfsTer25",
        "hgvsWellDefined": "XP_005259472.1:p.[Ala474_Leu481delinsArgArgCysProProSerAla;Gln483_Leu485delinsPro;Asp487_Leu488del;Lys490_Pro497delinsGlyGlyProSerGluGluAspGly;Asp499del;Leu501_Asp503delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535004"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 847,
          "referenceAllele": "GG",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_005259416.4:c.735_736del"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259473.1:p.Ala246ArgfsTer25",
        "hgvsWellDefined": "XP_005259473.1:p.[Ala246_Leu253delinsArgArgCysProProSerAla;Gln255_Leu257delinsPro;Asp259_Leu260del;Lys262_Pro269delinsGlyGlyProSerGluGluAspGly;Asp271del;Leu273_Asp275delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535005"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2643,
          "referenceAllele": "GG",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_011527515.2:c.1308_1309del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525817.1:p.Ala437ArgfsTer25",
        "hgvsWellDefined": "XP_011525817.1:p.[Ala437_Leu444delinsArgArgCysProProSerAla;Gln446_Leu448delinsPro;Asp450_Leu451del;Lys453_Pro460delinsGlyGlyProSerGluGluAspGly;Asp462del;Leu464_Asp466delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548710"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1433,
          "referenceAllele": "GG",
          "start": 1431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_011527516.2:c.1308_1309del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525818.1:p.Ala437ArgfsTer25",
        "hgvsWellDefined": "XP_011525818.1:p.[Ala437_Leu444delinsArgArgCysProProSerAla;Gln446_Leu448delinsPro;Asp450_Leu451del;Lys453_Pro460delinsGlyGlyProSerGluGluAspGly;Asp462del;Leu464_Asp466delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548711"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2473,
          "referenceAllele": "GG",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_017027483.1:c.1143_1144del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882972.1:p.Ala382ArgfsTer25",
        "hgvsWellDefined": "XP_016882972.1:p.[Ala382_Leu389delinsArgArgCysProProSerAla;Gln391_Leu393delinsPro;Asp395_Leu396del;Lys398_Pro405delinsGlyGlyProSerGluGluAspGly;Asp407del;Leu409_Asp411delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577423"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1793,
          "referenceAllele": "GG",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_024451782.1:c.1458_1459del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307550.1:p.Ala487ArgfsTer25",
        "hgvsWellDefined": "XP_024307550.1:p.[Ala487_Leu494delinsArgArgCysProProSerAla;Gln496_Leu498delinsPro;Asp500_Leu501del;Lys503_Pro510delinsGlyGlyProSerGluGluAspGly;Asp512del;Leu514_Asp516delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585291"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2516,
          "referenceAllele": "GG",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "XM_024451783.1:c.1419_1420del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307551.1:p.Ala474ArgfsTer25",
        "hgvsWellDefined": "XP_024307551.1:p.[Ala474_Leu481delinsArgArgCysProProSerAla;Gln483_Leu485delinsPro;Asp487_Leu488del;Lys490_Pro497delinsGlyGlyProSerGluGluAspGly;Asp499del;Leu501_Asp503delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585292"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1777,
          "referenceAllele": "GG",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026560",
      "geneNCBI_id": 93233,
      "geneSymbol": "ODAD1",
      "hgvs": [
        "NM_001364171.2:c.1419_1420del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351100.1:p.Ala474ArgfsTer25",
        "hgvsWellDefined": "NP_001351100.1:p.[Ala474_Leu481delinsArgArgCysProProSerAla;Gln483_Leu485delinsPro;Asp487_Leu488del;Lys490_Pro497delinsGlyGlyProSerGluGluAspGly;Asp499del;Leu501_Asp503delinsSerAlaPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690824",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674294.1:c.1419_1420del"
          },
          "RefSeq": {
            "hgvs": "NM_001364171.2:c.1419_1420del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501363.1:p.Ala474ArgfsTer25"
          },
          "RefSeq": {
            "hgvs": "NP_001351100.1:p.Ala474ArgfsTer25"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}