{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA281569",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.3775del (p.Trp1259GlyfsTer14)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21602[alleleid]",
        "alleleId": 21602,
        "preferredName": "NM_001171.6(ABCC6):c.3775del (p.Trp1259fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6563",
        "RCV": [
          "RCV000006941",
          "RCV001588804",
          "RCV002496288"
        ],
        "variationId": 6563
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-16251626-CA-C",
        "id": "16-16251626-CA-C",
        "variant": "16:16251626 CA / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16251627del?assembly=hg19",
        "id": "chr16:g.16251627del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16157770del?assembly=hg38",
        "id": "chr16:g.16157770del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72664233",
        "rs": 72664233
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16251626-CA-C?dataset=gnomad_r2_1",
        "id": "16-16251626-CA-C",
        "variant": "16:16251626 CA / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16157769-CA-C?dataset=gnomad_r3",
        "id": "16-16157769-CA-C",
        "variant": "16:16157769 CA / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16157769-CA-C?dataset=gnomad_r4",
        "id": "16-16157769-CA-C",
        "variant": "16:16157769 CA / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 16157770,
          "referenceAllele": "A",
          "start": 16157769
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16157770del",
        "CM000678.2:g.16157770del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 16251627,
          "referenceAllele": "A",
          "start": 16251626
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16251627del",
        "CM000678.1:g.16251627del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 16159128,
          "referenceAllele": "A",
          "start": 16159127
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16159128del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 70702,
          "referenceAllele": "T",
          "start": 70701
        }
      ],
      "hgvs": [
        "NG_007558.2:g.70702del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 70848,
          "referenceAllele": "T",
          "start": 70847
        }
      ],
      "hgvs": [
        "NG_007558.3:g.70848del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3835,
          "referenceAllele": "T",
          "start": 3834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.3775del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:p.Trp1259GlyfsTer14",
        "hgvsWellDefined": "ENSP00000483331.2:p.[Trp1259_Gln1261del;Gly1263_Phe1267delinsLeu;Asp1269_Phe1270delinsAla;Leu1272del;Tyr1274_Pro1279delinsSerSerSerGlyThr;Ala1281_Gln1283del;Val1285_Lys1288del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3835,
          "referenceAllele": "T",
          "start": 3834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.3775del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Trp1259GlyfsTer14",
        "hgvsWellDefined": "ENSP00000205557.7:p.[Trp1259_Gln1261del;Gly1263_Phe1267delinsLeu;Asp1269_Phe1270delinsAla;Leu1272del;Tyr1274_Pro1279delinsSerSerSerGlyThr;Ala1281_Gln1283del;Val1285_Lys1288del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.3775del"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.3775del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Trp1259GlyfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Trp1259GlyfsTer14"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 589,
          "referenceAllele": "T",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000640696.1:c.589del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492197.1:p.Trp197GlyfsTer14",
        "hgvsWellDefined": "ENSP00000492197.1:p.[Trp197_Gln199del;Gly201_Phe205delinsLeu;Asp207_Phe208delinsAla;Leu210del;Tyr212_Pro217delinsSerSerSerGlyThr;Ala219_Gln221del;Val223_Lys226del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3805,
          "referenceAllele": "T",
          "start": 3804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.3775del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Trp1259GlyfsTer14",
        "hgvsWellDefined": "ENSP00000205557.7:p.[Trp1259_Gln1261del;Gly1263_Phe1267delinsLeu;Asp1269_Phe1270delinsAla;Leu1272del;Tyr1274_Pro1279delinsSerSerSerGlyThr;Ala1281_Gln1283del;Val1285_Lys1288del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3400,
          "referenceAllele": "T",
          "start": 3399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.3400del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:n.3400del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3637,
          "referenceAllele": "T",
          "start": 3636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.*984del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:n.*984del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3812,
          "referenceAllele": "T",
          "start": 3811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.3775del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Trp1259GlyfsTer14",
        "hgvsWellDefined": "NP_001162.4:p.[Trp1259_Gln1261del;Gly1263_Phe1267delinsLeu;Asp1269_Phe1270delinsAla;Leu1272del;Tyr1274_Pro1279delinsSerSerSerGlyThr;Ala1281_Gln1283del;Val1285_Lys1288del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3972,
          "referenceAllele": "T",
          "start": 3971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.3742del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Trp1248GlyfsTer14",
        "hgvsWellDefined": "XP_011520781.1:p.[Trp1248_Gln1250del;Gly1252_Phe1256delinsLeu;Asp1258_Phe1259delinsAla;Leu1261del;Tyr1263_Pro1268delinsSerSerSerGlyThr;Ala1270_Gln1272del;Val1274_Lys1277del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3760,
          "referenceAllele": "T",
          "start": 3759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.3433del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Trp1145GlyfsTer14",
        "hgvsWellDefined": "XP_011520782.1:p.[Trp1145_Gln1147del;Gly1149_Phe1153delinsLeu;Asp1155_Phe1156delinsAla;Leu1158del;Tyr1160_Pro1165delinsSerSerSerGlyThr;Ala1167_Gln1169del;Val1171_Lys1174del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3945,
          "referenceAllele": "T",
          "start": 3944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.3433del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Trp1145GlyfsTer14",
        "hgvsWellDefined": "XP_011520783.1:p.[Trp1145_Gln1147del;Gly1149_Phe1153delinsLeu;Asp1155_Phe1156delinsAla;Leu1158del;Tyr1160_Pro1165delinsSerSerSerGlyThr;Ala1167_Gln1169del;Val1171_Lys1174del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4010,
          "referenceAllele": "T",
          "start": 4009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.1:n.4010del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128735"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3811,
          "referenceAllele": "T",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.1:n.3811del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128736"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3811,
          "referenceAllele": "T",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.1:n.3811del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128737"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 538,
          "endIntronDirection": "-",
          "endIntronOffset": 2010,
          "referenceAllele": "A",
          "start": 538,
          "startIntronDirection": "-",
          "startIntronOffset": 2011
        }
      ],
      "hgvs": [
        "XR_933134.1:n.539-2011del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128911"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3843,
          "referenceAllele": "T",
          "start": 3842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.3433del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Trp1145GlyfsTer14",
        "hgvsWellDefined": "NP_001338729.1:p.[Trp1145_Gln1147del;Gly1149_Phe1153delinsLeu;Asp1155_Phe1156delinsAla;Leu1158del;Tyr1160_Pro1165delinsSerSerSerGlyThr;Ala1167_Gln1169del;Val1171_Lys1174del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3437,
          "referenceAllele": "T",
          "start": 3436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.3437del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3923,
          "referenceAllele": "T",
          "start": 3922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.3742del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Trp1248GlyfsTer14",
        "hgvsWellDefined": "XP_011520781.1:p.[Trp1248_Gln1250del;Gly1252_Phe1256delinsLeu;Asp1258_Phe1259delinsAla;Leu1261del;Tyr1263_Pro1268delinsSerSerSerGlyThr;Ala1270_Gln1272del;Val1274_Lys1277del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3958,
          "referenceAllele": "T",
          "start": 3957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.3433del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Trp1145GlyfsTer14",
        "hgvsWellDefined": "XP_011520783.1:p.[Trp1145_Gln1147del;Gly1149_Phe1153delinsLeu;Asp1155_Phe1156delinsAla;Leu1158del;Tyr1160_Pro1165delinsSerSerSerGlyThr;Ala1167_Gln1169del;Val1171_Lys1174del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3788,
          "referenceAllele": "T",
          "start": 3787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.3607del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Trp1203GlyfsTer14",
        "hgvsWellDefined": "XP_016878701.1:p.[Trp1203_Gln1205del;Gly1207_Phe1211delinsLeu;Asp1213_Phe1214delinsAla;Leu1216del;Tyr1218_Pro1223delinsSerSerSerGlyThr;Ala1225_Gln1227del;Val1229_Lys1232del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3994,
          "referenceAllele": "T",
          "start": 3993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.3811del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Trp1271GlyfsTer14",
        "hgvsWellDefined": "XP_024306029.1:p.[Trp1271_Gln1273del;Gly1275_Phe1279delinsLeu;Asp1281_Phe1282delinsAla;Leu1284del;Tyr1286_Pro1291delinsSerSerSerGlyThr;Ala1293_Gln1295del;Val1297_Lys1300del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3956,
          "referenceAllele": "T",
          "start": 3955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.2:n.3956del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610311"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3756,
          "referenceAllele": "T",
          "start": 3755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.3:n.3756del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610312"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3756,
          "referenceAllele": "T",
          "start": 3755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.3:n.3756del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610313"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3835,
          "referenceAllele": "T",
          "start": 3834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.3775del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Trp1259GlyfsTer14",
        "hgvsWellDefined": "NP_001162.5:p.[Trp1259_Gln1261del;Gly1263_Phe1267delinsLeu;Asp1269_Phe1270delinsAla;Leu1272del;Tyr1274_Pro1279delinsSerSerSerGlyThr;Ala1281_Gln1283del;Val1285_Lys1288del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.3775del"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.3775del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Trp1259GlyfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Trp1259GlyfsTer14"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}