{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA127959",
  "communityStandardTitle": [
    "NM_000477.7(ALB):c.1771del (p.Cys591AlafsTer17)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33268[alleleid]",
        "alleleId": 33268,
        "preferredName": "NM_000477.7(ALB):c.1771del (p.Cys591fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18229",
        "RCV": [
          "RCV000019890"
        ],
        "variationId": 18229
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.74285342del?assembly=hg19",
        "id": "chr4:g.74285342del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.73419625del?assembly=hg38",
        "id": "chr4:g.73419625del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74674594",
        "rs": 74674594
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 73419625,
          "referenceAllele": "T",
          "start": 73419624
        }
      ],
      "hgvs": [
        "NC_000004.12:g.73419625del",
        "CM000666.2:g.73419625del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 74285342,
          "referenceAllele": "T",
          "start": 74285341
        }
      ],
      "hgvs": [
        "NC_000004.11:g.74285342del",
        "CM000666.1:g.74285342del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "",
          "end": 74504206,
          "referenceAllele": "T",
          "start": 74504205
        }
      ],
      "hgvs": [
        "NC_000004.10:g.74504206del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 20371,
          "referenceAllele": "T",
          "start": 20370
        }
      ],
      "hgvs": [
        "NG_009291.1:g.20371del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001547"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1812,
          "referenceAllele": "T",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.9:c.1771del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Cys591AlafsTer17",
        "hgvsWellDefined": "ENSP00000295897.4:p.[Cys591_Gly596delinsAlaLeuProArgArgVal;Lys598Asn;Val600_Ser603delinsLeuLeu;Ala605_Ala606delinsValLys;Gly608_Leu609delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744342",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.1771del"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.1771del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Cys591AlafsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Cys591AlafsTer17"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1860,
          "referenceAllele": "T",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000295897.8:c.1771del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295897.4:p.Cys591AlafsTer17",
        "hgvsWellDefined": "ENSP00000295897.4:p.[Cys591_Gly596delinsAlaLeuProArgArgVal;Lys598Asn;Val600_Ser603delinsLeuLeu;Ala605_Ala606delinsValLys;Gly608_Leu609delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254184"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1446,
          "referenceAllele": "T",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000401494.7:c.1426del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384695.3:p.Cys476AlafsTer17",
        "hgvsWellDefined": "ENSP00000384695.3:p.[Cys476_Gly481delinsAlaLeuProArgArgVal;Lys483Asn;Val485_Ser488delinsLeuLeu;Ala490_Ala491delinsValLys;Gly493_Leu494delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279246"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1236,
          "referenceAllele": "T",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000415165.6:c.1195del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401820.2:p.Cys399AlafsTer17",
        "hgvsWellDefined": "ENSP00000401820.2:p.[Cys399_Gly404delinsAlaLeuProArgArgVal;Lys406Asn;Val408_Ser411delinsLeuLeu;Ala413_Ala414delinsValLys;Gly416_Leu417delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283864"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1395,
          "referenceAllele": "T",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000476441.6:c.*1050del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423727.1:n.*1050del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS317490"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 79,
          "referenceAllele": "T",
          "start": 78
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000495173.1:n.79del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331929"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1528,
          "referenceAllele": "T",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000503124.5:c.1321del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421027.1:p.Cys441AlafsTer17",
        "hgvsWellDefined": "ENSP00000421027.1:p.[Cys441_Gly446delinsAlaLeuProArgArgVal;Lys448Asn;Val450_Ser453delinsLeuLeu;Ala455_Ala456delinsValLys;Gly458_Leu459delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335518"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1318,
          "referenceAllele": "T",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000505649.5:n.1318del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337381"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 175,
          "endIntronDirection": "+",
          "endIntronOffset": 170,
          "referenceAllele": "T",
          "start": 175,
          "startIntronDirection": "+",
          "startIntronOffset": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000508932.5:n.175+170del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339829"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1795,
          "referenceAllele": "T",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000509063.5:c.1771del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422784.1:p.Cys591AlafsTer8",
        "hgvsWellDefined": "ENSP00000422784.1:p.[Cys591_Phe592del;Glu594_Glu595delinsLeu;Thr597_Met598del;Ile600_Lys604delinsSerLeuPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339915"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1304,
          "referenceAllele": "T",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000511370.1:c.1304del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341652"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1173,
          "referenceAllele": "T",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621085.4:c.1132del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483421.1:p.Cys378AlafsTer17",
        "hgvsWellDefined": "ENSP00000483421.1:p.[Cys378_Gly383delinsAlaLeuProArgArgVal;Lys385Asn;Val387_Ser390delinsLeuLeu;Ala392_Ala393delinsValLys;Gly395_Leu396delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405108"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1205,
          "referenceAllele": "T",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "ENST00000621628.4:c.1132del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480485.1:p.Cys378AlafsTer17",
        "hgvsWellDefined": "ENSP00000480485.1:p.[Cys378_Gly383delinsAlaLeuProArgArgVal;Lys385Asn;Val387_Ser390delinsLeuLeu;Ala392_Ala393delinsValLys;Gly395_Leu396delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405355"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1844,
          "referenceAllele": "T",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.5:c.1771del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Cys591AlafsTer17",
        "hgvsWellDefined": "NP_000468.1:p.[Cys591_Gly596delinsAlaLeuProArgArgVal;Lys598Asn;Val600_Ser603delinsLeuLeu;Ala605_Ala606delinsValLys;Gly608_Leu609delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006531"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1860,
          "referenceAllele": "T",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.6:c.1771del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Cys591AlafsTer17",
        "hgvsWellDefined": "NP_000468.1:p.[Cys591_Gly596delinsAlaLeuProArgArgVal;Lys598Asn;Val600_Ser603delinsLeuLeu;Ala605_Ala606delinsValLys;Gly608_Leu609delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510797"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1812,
          "referenceAllele": "T",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000399",
      "geneNCBI_id": 213,
      "geneSymbol": "ALB",
      "hgvs": [
        "NM_000477.7:c.1771del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000468.1:p.Cys591AlafsTer17",
        "hgvsWellDefined": "NP_000468.1:p.[Cys591_Gly596delinsAlaLeuProArgArgVal;Lys598Asn;Val600_Ser603delinsLeuLeu;Ala605_Ala606delinsValLys;Gly608_Leu609delinsPro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295897.9:c.1771del"
          },
          "RefSeq": {
            "hgvs": "NM_000477.7:c.1771del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295897.4:p.Cys591AlafsTer17"
          },
          "RefSeq": {
            "hgvs": "NP_000468.1:p.Cys591AlafsTer17"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}