{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278675288",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.4335del (p.Ser1446AlafsTer18)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426790[alleleid]",
        "alleleId": 426790,
        "preferredName": "NM_001171.6(ABCC6):c.4335del (p.Ser1446fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433362",
        "RCV": [
          "RCV000499070"
        ],
        "variationId": 433362
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16244503del?assembly=hg19",
        "id": "chr16:g.16244503del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16150646del?assembly=hg38",
        "id": "chr16:g.16150646del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72664239",
        "rs": 72664239
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 16150648,
          "referenceAllele": "C",
          "start": 16150647
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16150648del",
        "CM000678.2:g.16150648del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 16244505,
          "referenceAllele": "C",
          "start": 16244504
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16244505del",
        "CM000678.1:g.16244505del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 16152006,
          "referenceAllele": "C",
          "start": 16152005
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16152006del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 77826,
          "referenceAllele": "G",
          "start": 77825
        }
      ],
      "hgvs": [
        "NG_007558.2:g.77826del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 77972,
          "referenceAllele": "G",
          "start": 77971
        }
      ],
      "hgvs": [
        "NG_007558.3:g.77972del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4458,
          "referenceAllele": "G",
          "start": 4457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.*507del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:n.*507del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4395,
          "referenceAllele": "G",
          "start": 4394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.4335del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Ser1446AlafsTer18",
        "hgvsWellDefined": "ENSP00000205557.7:p.[Ser1446_Phe1448del;Gln1450_Leu1454delinsGlyLeuHisSerAla;Ile1456_Arg1459delinsCysCysSer;Arg1461_Asp1465delinsProThrAla;Arg1468_Gly1475delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.4335del"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.4335del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Ser1446AlafsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Ser1446AlafsTer18"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000640696.1:c.1149del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492197.1:p.Ser384AlafsTer18",
        "hgvsWellDefined": "ENSP00000492197.1:p.[Ser384_Phe386del;Gln388_Leu392delinsGlyLeuHisSerAla;Ile394_Arg397delinsCysCysSer;Arg399_Asp403delinsProThrAla;Arg406_Gly413delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4365,
          "referenceAllele": "G",
          "start": 4364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.4335del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Ser1446AlafsTer18",
        "hgvsWellDefined": "ENSP00000205557.7:p.[Ser1446_Phe1448del;Gln1450_Leu1454delinsGlyLeuHisSerAla;Ile1456_Arg1459delinsCysCysSer;Arg1461_Asp1465delinsProThrAla;Arg1468_Gly1475delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3960,
          "referenceAllele": "G",
          "start": 3959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.3960del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:n.3960del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1198,
          "referenceAllele": "G",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000576204.5:n.1198del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384394"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4197,
          "referenceAllele": "G",
          "start": 4196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.*1544del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:n.*1544del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4372,
          "referenceAllele": "G",
          "start": 4371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.4335del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Ser1446AlafsTer18",
        "hgvsWellDefined": "NP_001162.4:p.[Ser1446_Phe1448del;Gln1450_Leu1454delinsGlyLeuHisSerAla;Ile1456_Arg1459delinsCysCysSer;Arg1461_Asp1465delinsProThrAla;Arg1468_Gly1475delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4532,
          "referenceAllele": "G",
          "start": 4531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.4302del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Ser1435AlafsTer18",
        "hgvsWellDefined": "XP_011520781.1:p.[Ser1435_Phe1437del;Gln1439_Leu1443delinsGlyLeuHisSerAla;Ile1445_Arg1448delinsCysCysSer;Arg1450_Asp1454delinsProThrAla;Arg1457_Gly1464delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4320,
          "referenceAllele": "G",
          "start": 4319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.3993del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Ser1332AlafsTer18",
        "hgvsWellDefined": "XP_011520782.1:p.[Ser1332_Phe1334del;Gln1336_Leu1340delinsGlyLeuHisSerAla;Ile1342_Arg1345delinsCysCysSer;Arg1347_Asp1351delinsProThrAla;Arg1354_Gly1361delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4505,
          "referenceAllele": "G",
          "start": 4504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.3993del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Ser1332AlafsTer18",
        "hgvsWellDefined": "XP_011520783.1:p.[Ser1332_Phe1334del;Gln1336_Leu1340delinsGlyLeuHisSerAla;Ile1342_Arg1345delinsCysCysSer;Arg1347_Asp1351delinsProThrAla;Arg1354_Gly1361delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 538,
          "endIntronDirection": "+",
          "endIntronOffset": 6358,
          "referenceAllele": "C",
          "start": 538,
          "startIntronDirection": "+",
          "startIntronOffset": 6357
        }
      ],
      "hgvs": [
        "XR_933134.1:n.538+6358del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128911"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4403,
          "referenceAllele": "G",
          "start": 4402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.3993del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Ser1332AlafsTer18",
        "hgvsWellDefined": "NP_001338729.1:p.[Ser1332_Phe1334del;Gln1336_Leu1340delinsGlyLeuHisSerAla;Ile1342_Arg1345delinsCysCysSer;Arg1347_Asp1351delinsProThrAla;Arg1354_Gly1361delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3997,
          "referenceAllele": "G",
          "start": 3996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.3997del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4483,
          "referenceAllele": "G",
          "start": 4482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.4302del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Ser1435AlafsTer18",
        "hgvsWellDefined": "XP_011520781.1:p.[Ser1435_Phe1437del;Gln1439_Leu1443delinsGlyLeuHisSerAla;Ile1445_Arg1448delinsCysCysSer;Arg1450_Asp1454delinsProThrAla;Arg1457_Gly1464delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4518,
          "referenceAllele": "G",
          "start": 4517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.3993del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Ser1332AlafsTer18",
        "hgvsWellDefined": "XP_011520783.1:p.[Ser1332_Phe1334del;Gln1336_Leu1340delinsGlyLeuHisSerAla;Ile1342_Arg1345delinsCysCysSer;Arg1347_Asp1351delinsProThrAla;Arg1354_Gly1361delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4348,
          "referenceAllele": "G",
          "start": 4347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.4167del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Ser1390AlafsTer18",
        "hgvsWellDefined": "XP_016878701.1:p.[Ser1390_Phe1392del;Gln1394_Leu1398delinsGlyLeuHisSerAla;Ile1400_Arg1403delinsCysCysSer;Arg1405_Asp1409delinsProThrAla;Arg1412_Gly1419delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4554,
          "referenceAllele": "G",
          "start": 4553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.4371del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Ser1458AlafsTer18",
        "hgvsWellDefined": "XP_024306029.1:p.[Ser1458_Phe1460del;Gln1462_Leu1466delinsGlyLeuHisSerAla;Ile1468_Arg1471delinsCysCysSer;Arg1473_Asp1477delinsProThrAla;Arg1480_Gly1487delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4395,
          "referenceAllele": "G",
          "start": 4394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.4335del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Ser1446AlafsTer18",
        "hgvsWellDefined": "NP_001162.5:p.[Ser1446_Phe1448del;Gln1450_Leu1454delinsGlyLeuHisSerAla;Ile1456_Arg1459delinsCysCysSer;Arg1461_Asp1465delinsProThrAla;Arg1468_Gly1475delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.4335del"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.4335del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Ser1446AlafsTer18"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Ser1446AlafsTer18"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}