{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1962335266", "communityStandardTitle": [ "NM_024426.6(WT1):c.1406A= (p.Asp469=)" ], "externalRecords": { "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121907902", "rs": 121907902 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 32392013, "referenceAllele": "T", "start": 32392012 } ], "hgvs": [ "NC_000011.10:g.32392013T=", "CM000673.2:g.32392013T=" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 32413559, "referenceAllele": "T", "start": 32413558 } ], "hgvs": [ "NC_000011.9:g.32413559T=", "CM000673.1:g.32413559T=" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 32370135, "referenceAllele": "T", "start": 32370134 } ], "hgvs": [ "NC_000011.8:g.32370135T=" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 48529, "referenceAllele": "A", "start": 48528 } ], "hgvs": [ "NG_009272.1:g.48529A=", "LRG_525:g.48529A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS001534" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1559, "referenceAllele": "A", "start": 1558 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000332351.9:c.1355A=" ], "proteinEffect": { "hgvs": "ENSP00000331327.5:p.Asp452=" }, "referenceSequence": "http://reg.genome.network/refseq/RS747223" }, { "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "A", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000379077.9:c.*590A=" ], "proteinEffect": { "hgvs": "ENSP00000368368.5:n.*590A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS752167" }, { "coordinates": [ { "allele": "A", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000379079.8:c.755A=" ], "proteinEffect": { "hgvs": "ENSP00000368370.2:p.Asp252=" }, "referenceSequence": "http://reg.genome.network/refseq/RS752168" }, { "coordinates": [ { "allele": "A", "end": 1581, "referenceAllele": "A", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000448076.9:c.1406A=" ], "proteinEffect": { "hgvs": "ENSP00000413452.5:p.Asp469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS756156" }, { "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "A", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000452863.10:c.1406A=" ], "proteinEffect": { "hgvs": "ENSP00000415516.5:p.Asp469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS756399", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000452863.10:c.1406A=" }, "RefSeq": { "hgvs": "NM_024426.6:c.1406A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415516.5:p.Asp469=" }, "RefSeq": { "hgvs": "NP_077744.4:p.Asp469=" } } } }, { "coordinates": [ { "allele": "A", "end": 860, "referenceAllele": "A", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000526685.2:n.860A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS758978" }, { "coordinates": [ { "allele": "A", "end": 1355, "referenceAllele": "A", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000639563.3:c.1355A=" ], "proteinEffect": { "hgvs": "ENSP00000492269.3:p.Asp452=" }, "referenceSequence": "http://reg.genome.network/refseq/RS765082" }, { "coordinates": [ { "allele": "A", "end": 549, "referenceAllele": "A", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000639907.2:n.549A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS765237" }, { "coordinates": [ { "allele": "A", "end": 927, "referenceAllele": "A", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000640146.2:c.731A=" ], "proteinEffect": { "hgvs": "ENSP00000491984.2:p.Asp244=" }, "referenceSequence": "http://reg.genome.network/refseq/RS765357" }, { "coordinates": [ { "allele": "A", "end": 1216, "referenceAllele": "A", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000650745.1:n.1216A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS771290" }, { "coordinates": [ { "allele": "A", "end": 1987, "referenceAllele": "A", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000650861.1:n.1987A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS771357" }, { "coordinates": [ { "allele": "A", "end": 69, "referenceAllele": "A", "start": 68 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000650986.1:n.69A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS771407" }, { "coordinates": [ { "allele": "A", "end": 177, "referenceAllele": "A", "start": 176 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000651459.1:c.177A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS771679" }, { "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "A", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000651533.1:n.452A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS771721" }, { "coordinates": [ { "allele": "A", "end": 343, "referenceAllele": "A", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000651668.1:n.343A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS771795" }, { "coordinates": [ { "allele": "A", "end": 1249, "referenceAllele": "A", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000651794.1:n.1249A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS771859" }, { "coordinates": [ { "allele": "A", "end": 331, "referenceAllele": "A", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000651819.1:n.331A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS771874" }, { "coordinates": [ { "allele": "A", "end": 666, "referenceAllele": "A", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000652579.1:n.666A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS772288" }, { "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "A", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000652724.1:n.596A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS772372" }, { "coordinates": [ { "allele": "A", "end": 1676, "referenceAllele": "A", "start": 1675 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000332351.7:c.1391A=" ], "proteinEffect": { "hgvs": "ENSP00000331327.3:p.Asp464=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247229" }, { "coordinates": [ { "allele": "A", "end": 1586, "referenceAllele": "A", "start": 1585 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000379077.7:c.*590A=" ], "proteinEffect": { "hgvs": "ENSP00000368368.3:n.*590A=" }, "referenceSequence": "http://reg.genome.network/refseq/RS272326" }, { "coordinates": [ { "allele": "A", "end": 1029, "referenceAllele": "A", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000379079.6:c.755A=" ], "proteinEffect": { "hgvs": "ENSP00000368370.2:p.Asp252=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247160" }, { "coordinates": [ { "allele": "A", "end": 1581, "referenceAllele": "A", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000448076.7:c.1391A=" ], "proteinEffect": { "hgvs": "ENSP00000413452.3:p.Asp464=" }, "referenceSequence": "http://reg.genome.network/refseq/RS246732" }, { "coordinates": [ { "allele": "A", "end": 1340, "referenceAllele": "A", "start": 1339 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000452863.7:c.1340A=" ], "proteinEffect": { "hgvs": "ENSP00000415516.3:p.Asp447=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247261" }, { "coordinates": [ { "allele": "A", "end": 372, "referenceAllele": "A", "start": 371 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000527882.5:c.372A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS247333" }, { "coordinates": [ { "allele": "A", "end": 978, "referenceAllele": "A", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000530998.5:c.704A=" ], "proteinEffect": { "hgvs": "ENSP00000435307.1:p.Asp235=" }, "referenceSequence": "http://reg.genome.network/refseq/RS247343" }, { "coordinates": [ { "allele": "A", "end": 1530, "referenceAllele": "A", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_000378.4:c.1340A=" ], "proteinEffect": { "hgvs": "NP_000369.3:p.Asp447=" }, "referenceSequence": "http://reg.genome.network/refseq/RS006440" }, { "@id": "http://reg.genome.network/allele/PA2826223454", "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "A", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_001198551.1:c.755A=", "LRG_525t2:c.755A=" ], "proteinEffect": { "hgvs": "NP_001185480.1:p.Asp252=" }, "referenceSequence": "http://reg.genome.network/refseq/RS016775" }, { "@id": "http://reg.genome.network/allele/PA2826224417", "coordinates": [ { "allele": "A", "end": 982, "referenceAllele": "A", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_001198552.1:c.704A=" ], "proteinEffect": { "hgvs": "NP_001185481.1:p.Asp235=" }, "referenceSequence": "http://reg.genome.network/refseq/RS016776" }, { "coordinates": [ { "allele": "A", "end": 1581, "referenceAllele": "A", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_024424.3:c.1391A=" ], "proteinEffect": { "hgvs": "NP_077742.2:p.Asp464=" }, "referenceSequence": "http://reg.genome.network/refseq/RS037765" }, { "coordinates": [ { "allele": "A", "end": 1581, "referenceAllele": "A", "start": 1580 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_024426.4:c.1391A=" ], "proteinEffect": { "hgvs": "NP_077744.3:p.Asp464=" }, "referenceSequence": "http://reg.genome.network/refseq/RS037766" }, { "@id": "http://reg.genome.network/allele/PA2825161670", "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "A", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_000378.5:c.1355A=" ], "proteinEffect": { "hgvs": "NP_000369.4:p.Asp452=" }, "referenceSequence": "http://reg.genome.network/refseq/RS510785" }, { "@id": "http://reg.genome.network/allele/PA2830000552", "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "A", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_024424.4:c.1406A=" ], "proteinEffect": { "hgvs": "NP_077742.3:p.Asp469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS526153" }, { "@id": "http://reg.genome.network/allele/PA2830002795", "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "A", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_024426.5:c.1406A=" ], "proteinEffect": { "hgvs": "NP_077744.4:p.Asp469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS526154" }, { "@id": "http://reg.genome.network/allele/PA2828276036", "coordinates": [ { "allele": "A", "end": 645, "referenceAllele": "A", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_001367854.1:c.218A=" ], "proteinEffect": { "hgvs": "NP_001354783.1:p.Asp73=" }, "referenceSequence": "http://reg.genome.network/refseq/RS664892" }, { "coordinates": [ { "allele": "A", "end": 1738, "referenceAllele": "A", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NR_160306.1:n.1738A=" ], "referenceSequence": "http://reg.genome.network/refseq/RS673465" }, { "@id": "http://reg.genome.network/allele/PA2825161670", "coordinates": [ { "allele": "A", "end": 1534, "referenceAllele": "A", "start": 1533 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_000378.6:c.1355A=" ], "proteinEffect": { "hgvs": "NP_000369.4:p.Asp452=" }, "referenceSequence": "http://reg.genome.network/refseq/RS674818" }, { "@id": "http://reg.genome.network/allele/PA2826224417", "coordinates": [ { "allele": "A", "end": 978, "referenceAllele": "A", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_001198552.2:c.704A=" ], "proteinEffect": { "hgvs": "NP_001185481.1:p.Asp235=" }, "referenceSequence": "http://reg.genome.network/refseq/RS679392" }, { "@id": "http://reg.genome.network/allele/PA2830000552", "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "A", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_024424.5:c.1406A=" ], "proteinEffect": { "hgvs": "NP_077742.3:p.Asp469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS698694" }, { "@id": "http://reg.genome.network/allele/PA2830002795", "coordinates": [ { "allele": "A", "end": 1585, "referenceAllele": "A", "start": 1584 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_024426.6:c.1406A=" ], "proteinEffect": { "hgvs": "NP_077744.4:p.Asp469=" }, "referenceSequence": "http://reg.genome.network/refseq/RS698695", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000452863.10:c.1406A=" }, "RefSeq": { "hgvs": "NM_024426.6:c.1406A=" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415516.5:p.Asp469=" }, "RefSeq": { "hgvs": "NP_077744.4:p.Asp469=" } } } } ], "type": "nucleotide" }