{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278631663",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.3343_3345del (p.Leu1115del)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426882[alleleid]",
        "alleleId": 426882,
        "preferredName": "NM_001171.6(ABCC6):c.3343_3345del (p.Leu1115del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433309",
        "RCV": [
          "RCV000499113"
        ],
        "variationId": 433309
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16257011_16257013del?assembly=hg19",
        "id": "chr16:g.16257011_16257013del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16163154_16163156del?assembly=hg38",
        "id": "chr16:g.16163154_16163156del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72664231",
        "rs": 72664231
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 16163156,
          "referenceAllele": "CAA",
          "start": 16163153
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16163154_16163156del",
        "CM000678.2:g.16163154_16163156del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 16257013,
          "referenceAllele": "CAA",
          "start": 16257010
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16257011_16257013del",
        "CM000678.1:g.16257011_16257013del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "",
          "end": 16164514,
          "referenceAllele": "CAA",
          "start": 16164511
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16164512_16164514del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 65318,
          "referenceAllele": "TTG",
          "start": 65315
        }
      ],
      "hgvs": [
        "NG_007558.2:g.65316_65318del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 65464,
          "referenceAllele": "TTG",
          "start": 65461
        }
      ],
      "hgvs": [
        "NG_007558.3:g.65462_65464del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3405,
          "referenceAllele": "TTG",
          "start": 3402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.3343_3345del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:p.Leu1115del",
        "hgvsWellDefined": "ENSP00000483331.2:p.Leu1115del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3405,
          "referenceAllele": "TTG",
          "start": 3402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.3343_3345del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Leu1115del",
        "hgvsWellDefined": "ENSP00000205557.7:p.Leu1115del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.3343_3345del"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.3343_3345del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Leu1115del"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Leu1115del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 320,
          "endIntronDirection": "-",
          "endIntronOffset": 1589,
          "referenceAllele": "TTG",
          "start": 320,
          "startIntronDirection": "-",
          "startIntronOffset": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000640696.1:c.321-1592_321-1590del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492197.1:n.321-1592_321-1590del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765624"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3375,
          "referenceAllele": "TTG",
          "start": 3372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.3343_3345del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Leu1115del",
        "hgvsWellDefined": "ENSP00000205557.7:p.Leu1115del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3131,
          "endIntronDirection": "-",
          "endIntronOffset": 1589,
          "referenceAllele": "TTG",
          "start": 3131,
          "startIntronDirection": "-",
          "startIntronOffset": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.3132-1592_3132-1590del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:n.3132-1592_3132-1590del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3207,
          "referenceAllele": "TTG",
          "start": 3204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.*552_*554del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:n.*552_*554del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645443160",
      "coordinates": [
        {
          "allele": "",
          "end": 3382,
          "referenceAllele": "TTG",
          "start": 3379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.3343_3345del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Leu1115del",
        "hgvsWellDefined": "NP_001162.4:p.Leu1115del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3542,
          "referenceAllele": "TTG",
          "start": 3539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.3310_3312del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Leu1104del",
        "hgvsWellDefined": "XP_011520781.1:p.Leu1104del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3330,
          "referenceAllele": "TTG",
          "start": 3327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.3001_3003del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Leu1001del",
        "hgvsWellDefined": "XP_011520782.1:p.Leu1001del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3515,
          "referenceAllele": "TTG",
          "start": 3512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.3001_3003del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Leu1001del",
        "hgvsWellDefined": "XP_011520783.1:p.Leu1001del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3580,
          "referenceAllele": "TTG",
          "start": 3577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.1:n.3578_3580del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128735"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3542,
          "endIntronDirection": "-",
          "endIntronOffset": 1589,
          "referenceAllele": "TTG",
          "start": 3542,
          "startIntronDirection": "-",
          "startIntronOffset": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.1:n.3543-1592_3543-1590del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128736"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3542,
          "endIntronDirection": "-",
          "endIntronOffset": 1589,
          "referenceAllele": "TTG",
          "start": 3542,
          "startIntronDirection": "-",
          "startIntronOffset": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.1:n.3543-1592_3543-1590del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128737"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 407,
          "endIntronDirection": "+",
          "endIntronOffset": 313,
          "referenceAllele": "CAA",
          "start": 407,
          "startIntronDirection": "+",
          "startIntronOffset": 310
        }
      ],
      "hgvs": [
        "XR_933133.1:n.407+311_407+313del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128910"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 754,
          "endIntronDirection": "+",
          "endIntronOffset": 313,
          "referenceAllele": "CAA",
          "start": 754,
          "startIntronDirection": "+",
          "startIntronOffset": 310
        }
      ],
      "hgvs": [
        "XR_933134.1:n.754+311_754+313del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827627405",
      "coordinates": [
        {
          "allele": "",
          "end": 3413,
          "referenceAllele": "TTG",
          "start": 3410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.3001_3003del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Leu1001del",
        "hgvsWellDefined": "NP_001338729.1:p.Leu1001del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3168,
          "endIntronDirection": "-",
          "endIntronOffset": 1589,
          "referenceAllele": "TTG",
          "start": 3168,
          "startIntronDirection": "-",
          "startIntronOffset": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.3169-1592_3169-1590del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3493,
          "referenceAllele": "TTG",
          "start": 3490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.3310_3312del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Leu1104del",
        "hgvsWellDefined": "XP_011520781.1:p.Leu1104del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3528,
          "referenceAllele": "TTG",
          "start": 3525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.3001_3003del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Leu1001del",
        "hgvsWellDefined": "XP_011520783.1:p.Leu1001del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3358,
          "referenceAllele": "TTG",
          "start": 3355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.3175_3177del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Leu1059del",
        "hgvsWellDefined": "XP_016878701.1:p.Leu1059del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3488,
          "endIntronDirection": "-",
          "endIntronOffset": 1589,
          "referenceAllele": "TTG",
          "start": 3488,
          "startIntronDirection": "-",
          "startIntronOffset": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023214.1:c.3307-1592_3307-1590del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878703.1:n.3307-1592_3307-1590del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574013"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3564,
          "referenceAllele": "TTG",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.3379_3381del"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Leu1127del",
        "hgvsWellDefined": "XP_024306029.1:p.Leu1127del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3526,
          "referenceAllele": "TTG",
          "start": 3523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.2:n.3524_3526del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610311"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3487,
          "endIntronDirection": "-",
          "endIntronOffset": 1589,
          "referenceAllele": "TTG",
          "start": 3487,
          "startIntronDirection": "-",
          "startIntronOffset": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.3:n.3488-1592_3488-1590del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610312"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3487,
          "endIntronDirection": "-",
          "endIntronOffset": 1589,
          "referenceAllele": "TTG",
          "start": 3487,
          "startIntronDirection": "-",
          "startIntronOffset": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.3:n.3488-1592_3488-1590del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573066671",
      "coordinates": [
        {
          "allele": "",
          "end": 3405,
          "referenceAllele": "TTG",
          "start": 3402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.3343_3345del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Leu1115del",
        "hgvsWellDefined": "NP_001162.5:p.Leu1115del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.3343_3345del"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.3343_3345del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Leu1115del"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Leu1115del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}