{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2573053502", "communityStandardTitle": [ "NM_001352027.3(PHF21A):c.1704_1705del (p.Lys569ValfsTer3)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1292441[alleleid]", "alleleId": 1292441, "preferredName": "NM_001352027.3(PHF21A):c.1704_1705del (p.Lys569fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1302159", "RCV": [ "RCV001754048" ], "variationId": 1302159 } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2135027632", "rs": 2135027632 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "", "end": 45935721, "referenceAllele": "CT", "start": 45935719 } ], "hgvs": [ "NC_000011.10:g.45935720_45935721del", "CM000673.2:g.45935720_45935721del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "", "end": 45957272, "referenceAllele": "CT", "start": 45957270 } ], "hgvs": [ "NC_000011.9:g.45957271_45957272del", "CM000673.1:g.45957271_45957272del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "", "end": 45913848, "referenceAllele": "CT", "start": 45913846 } ], "hgvs": [ "NC_000011.8:g.45913847_45913848del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 1873, "referenceAllele": "AG", "start": 1871 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000525676.6:c.1560_1561del" ], "proteinEffect": { "hgvs": "ENSP00000431964.2:p.Lys521ValfsTer3", "hgvsWellDefined": "ENSP00000431964.2:p.[Lys521_Lys539del;Lys541_Glu550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS825711" }, { "coordinates": [ { "allele": "", "end": 1749, "referenceAllele": "AG", "start": 1747 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000530587.6:c.1563_1564del" ], "proteinEffect": { "hgvs": "ENSP00000435984.2:p.Lys522ValfsTer3", "hgvsWellDefined": "ENSP00000435984.2:p.[Lys522_Lys540del;Lys542_Pro551delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS825790" }, { "coordinates": [ { "allele": "", "end": 3284, "referenceAllele": "AG", "start": 3282 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000686153.1:n.3283_3284del" ], "referenceSequence": "http://reg.genome.network/refseq/RS830424" }, { "coordinates": [ { "allele": "", "end": 1697, "referenceAllele": "AG", "start": 1695 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000688604.1:n.1696_1697del" ], "referenceSequence": "http://reg.genome.network/refseq/RS831720" }, { "coordinates": [ { "allele": "", "end": 2741, "referenceAllele": "AG", "start": 2739 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000689695.1:n.2740_2741del" ], "referenceSequence": "http://reg.genome.network/refseq/RS832309" }, { "coordinates": [ { "allele": "", "end": 2118, "referenceAllele": "AG", "start": 2116 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000690620.1:c.1563_1564del" ], "proteinEffect": { "hgvs": "ENSP00000508589.1:p.Lys522ValfsTer3", "hgvsWellDefined": "ENSP00000508589.1:p.[Lys522_Lys540del;Lys542_Cys551delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS832793" }, { "coordinates": [ { "allele": "", "end": 2735, "referenceAllele": "AG", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000692878.1:n.2734_2735del" ], "referenceSequence": "http://reg.genome.network/refseq/RS833935" }, { "coordinates": [ { "allele": "", "end": 2437, "referenceAllele": "AG", "start": 2435 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000693049.1:c.*1553_*1554del" ], "proteinEffect": { "hgvs": "ENSP00000510131.1:n.*1553_*1554del" }, "referenceSequence": "http://reg.genome.network/refseq/RS834035" }, { "coordinates": [ { "allele": "", "end": 2461, "referenceAllele": "AG", "start": 2459 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000676320.1:c.1704_1705del" ], "proteinEffect": { "hgvs": "ENSP00000502222.1:p.Lys569ValfsTer3", "hgvsWellDefined": "ENSP00000502222.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS776017", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676320.1:c.1704_1705del" }, "RefSeq": { "hgvs": "NM_001352027.3:c.1704_1705del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502222.1:p.Lys569ValfsTer3" }, "RefSeq": { "hgvs": "NP_001338956.1:p.Lys569ValfsTer3" } } } }, { "coordinates": [ { "allele": "", "end": 1932, "referenceAllele": "AG", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000323180.10:c.1563_1564del" ], "proteinEffect": { "hgvs": "ENSP00000323152.6:p.Lys522ValfsTer3", "hgvsWellDefined": "ENSP00000323152.6:p.[Lys522_Lys540del;Lys542_Cys551delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS258181" }, { "coordinates": [ { "allele": "", "end": 1902, "referenceAllele": "AG", "start": 1900 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000418153.6:c.1701_1702del" ], "proteinEffect": { "hgvs": "ENSP00000398824.2:p.Lys568ValfsTer3", "hgvsWellDefined": "ENSP00000398824.2:p.[Lys568_Lys586del;Lys588_Cys597delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS285268" }, { "coordinates": [ { "allele": "", "end": 35, "referenceAllele": "AG", "start": 33 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000525676.5:c.34_35del" ], "referenceSequence": "http://reg.genome.network/refseq/RS351660" }, { "coordinates": [ { "allele": "", "end": 2558, "referenceAllele": "AG", "start": 2556 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000527401.5:n.2557_2558del" ], "referenceSequence": "http://reg.genome.network/refseq/RS353112" }, { "coordinates": [ { "allele": "", "end": 205, "referenceAllele": "AG", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000530587.5:c.204_205del" ], "proteinEffect": { "hgvs": "ENSP00000435984.1:p.Lys69ValfsTer3", "hgvsWellDefined": "ENSP00000435984.1:p.[Lys69_Lys87del;Lys89_Pro98delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS355817" }, { "coordinates": [ { "allele": "", "end": 127, "referenceAllele": "AG", "start": 125 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000532028.1:c.126_127del" ], "proteinEffect": { "hgvs": "ENSP00000431621.1:p.Lys43ValfsTer3", "hgvsWellDefined": "ENSP00000431621.1:p.[Lys43_Lys61del;Lys63_Cys72delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS357020" }, { "coordinates": [ { "allele": "", "end": 365, "referenceAllele": "AG", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "ENST00000534724.1:n.364_365del" ], "referenceSequence": "http://reg.genome.network/refseq/RS359289" }, { "coordinates": [ { "allele": "", "end": 2326, "referenceAllele": "AG", "start": 2324 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001101802.1:c.1701_1702del" ], "proteinEffect": { "hgvs": "NP_001095272.1:p.Lys568ValfsTer3", "hgvsWellDefined": "NP_001095272.1:p.[Lys568_Lys586del;Lys588_Cys597delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS010966" }, { "coordinates": [ { "allele": "", "end": 2188, "referenceAllele": "AG", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_016621.3:c.1563_1564del" ], "proteinEffect": { "hgvs": "NP_057705.3:p.Lys522ValfsTer3", "hgvsWellDefined": "NP_057705.3:p.[Lys522_Lys540del;Lys542_Cys551delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS034837" }, { "coordinates": [ { "allele": "", "end": 2005, "referenceAllele": "AG", "start": 2003 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_005252962.3:c.1704_1705del" ], "proteinEffect": { "hgvs": "XP_005253019.1:p.Lys569ValfsTer3", "hgvsWellDefined": "XP_005253019.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS060103" }, { "coordinates": [ { "allele": "", "end": 2018, "referenceAllele": "AG", "start": 2016 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_005252965.3:c.1704_1705del" ], "proteinEffect": { "hgvs": "XP_005253022.1:p.Lys569ValfsTer3", "hgvsWellDefined": "XP_005253022.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS060104" }, { "coordinates": [ { "allele": "", "end": 1716, "referenceAllele": "AG", "start": 1714 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_006718248.2:c.1569_1570del" ], "proteinEffect": { "hgvs": "XP_006718311.1:p.Lys524ValfsTer3", "hgvsWellDefined": "XP_006718311.1:p.[Lys524_Lys542del;Lys544_Cys553delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS072539" }, { "coordinates": [ { "allele": "", "end": 1879, "referenceAllele": "AG", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520157.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518459.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518459.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087326" }, { "coordinates": [ { "allele": "", "end": 2225, "referenceAllele": "AG", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520158.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518460.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518460.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087327" }, { "coordinates": [ { "allele": "", "end": 2508, "referenceAllele": "AG", "start": 2506 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520159.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518461.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518461.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087328" }, { "coordinates": [ { "allele": "", "end": 2382, "referenceAllele": "AG", "start": 2380 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520160.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518462.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518462.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087329" }, { "coordinates": [ { "allele": "", "end": 2477, "referenceAllele": "AG", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520161.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518463.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518463.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087330" }, { "coordinates": [ { "allele": "", "end": 2351, "referenceAllele": "AG", "start": 2349 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520162.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518464.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518464.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087331" }, { "coordinates": [ { "allele": "", "end": 2396, "referenceAllele": "AG", "start": 2394 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520163.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518465.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518465.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087332" }, { "coordinates": [ { "allele": "", "end": 2284, "referenceAllele": "AG", "start": 2282 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520164.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518466.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518466.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087333" }, { "coordinates": [ { "allele": "", "end": 2245, "referenceAllele": "AG", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520165.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518467.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518467.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087334" }, { "coordinates": [ { "allele": "", "end": 2158, "referenceAllele": "AG", "start": 2156 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520166.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518468.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518468.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087335" }, { "coordinates": [ { "allele": "", "end": 2365, "referenceAllele": "AG", "start": 2363 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520167.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518469.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518469.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087336" }, { "coordinates": [ { "allele": "", "end": 2223, "referenceAllele": "AG", "start": 2221 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520168.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518470.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518470.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087337" }, { "coordinates": [ { "allele": "", "end": 2182, "referenceAllele": "AG", "start": 2180 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520169.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518471.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518471.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087338" }, { "coordinates": [ { "allele": "", "end": 2172, "referenceAllele": "AG", "start": 2170 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520170.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518472.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518472.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087339" }, { "coordinates": [ { "allele": "", "end": 1876, "referenceAllele": "AG", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520171.1:c.1722_1723del" ], "proteinEffect": { "hgvs": "XP_011518473.1:p.Lys575ValfsTer3", "hgvsWellDefined": "XP_011518473.1:p.[Lys575_Lys593del;Lys595_Cys604delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087340" }, { "coordinates": [ { "allele": "", "end": 2110, "referenceAllele": "AG", "start": 2108 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520172.1:c.1722_1723del" ], "proteinEffect": { "hgvs": "XP_011518474.1:p.Lys575ValfsTer3", "hgvsWellDefined": "XP_011518474.1:p.[Lys575_Lys593del;Lys595_Cys604delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087341" }, { "coordinates": [ { "allele": "", "end": 2138, "referenceAllele": "AG", "start": 2136 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520173.1:c.1704_1705del" ], "proteinEffect": { "hgvs": "XP_011518475.1:p.Lys569ValfsTer3", "hgvsWellDefined": "XP_011518475.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087342" }, { "coordinates": [ { "allele": "", "end": 2112, "referenceAllele": "AG", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520174.1:c.1704_1705del" ], "proteinEffect": { "hgvs": "XP_011518476.1:p.Lys569ValfsTer3", "hgvsWellDefined": "XP_011518476.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087343" }, { "coordinates": [ { "allele": "", "end": 2109, "referenceAllele": "AG", "start": 2107 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520175.1:c.1701_1702del" ], "proteinEffect": { "hgvs": "XP_011518477.1:p.Lys568ValfsTer3", "hgvsWellDefined": "XP_011518477.1:p.[Lys568_Lys586del;Lys588_Cys597delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087344" }, { "coordinates": [ { "allele": "", "end": 1879, "referenceAllele": "AG", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520176.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518478.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518478.1:p.[Lys576_Lys594del;Lys596_Glu605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087345" }, { "coordinates": [ { "allele": "", "end": 1738, "referenceAllele": "AG", "start": 1736 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520177.1:c.1584_1585del" ], "proteinEffect": { "hgvs": "XP_011518479.1:p.Lys529ValfsTer3", "hgvsWellDefined": "XP_011518479.1:p.[Lys529_Lys547del;Lys549_Cys558delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087346" }, { "coordinates": [ { "allele": "", "end": 1723, "referenceAllele": "AG", "start": 1721 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520178.1:c.1569_1570del" ], "proteinEffect": { "hgvs": "XP_011518480.1:p.Lys524ValfsTer3", "hgvsWellDefined": "XP_011518480.1:p.[Lys524_Lys542del;Lys544_Cys553delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087347" }, { "coordinates": [ { "allele": "", "end": 1997, "referenceAllele": "AG", "start": 1995 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520179.1:c.1563_1564del" ], "proteinEffect": { "hgvs": "XP_011518481.1:p.Lys522ValfsTer3", "hgvsWellDefined": "XP_011518481.1:p.[Lys522_Lys540del;Lys542_Cys551delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087348" }, { "coordinates": [ { "allele": "", "end": 1861, "referenceAllele": "AG", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520180.1:c.1473_1474del" ], "proteinEffect": { "hgvs": "XP_011518482.1:p.Lys492ValfsTer3", "hgvsWellDefined": "XP_011518482.1:p.[Lys492_Lys510del;Lys512_Cys521delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087349" }, { "coordinates": [ { "allele": "", "end": 1753, "referenceAllele": "AG", "start": 1751 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520181.1:c.1452_1453del" ], "proteinEffect": { "hgvs": "XP_011518483.1:p.Lys485ValfsTer3", "hgvsWellDefined": "XP_011518483.1:p.[Lys485_Lys503del;Lys505_Cys514delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS087350" }, { "coordinates": [ { "allele": "", "end": 1879, "referenceAllele": "AG", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XR_930874.1:n.1878_1879del" ], "referenceSequence": "http://reg.genome.network/refseq/RS127001" }, { "coordinates": [ { "allele": "", "end": 2472, "referenceAllele": "AG", "start": 2470 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352025.1:c.1704_1705del" ], "proteinEffect": { "hgvs": "NP_001338954.1:p.Lys569ValfsTer3", "hgvsWellDefined": "NP_001338954.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS520563" }, { "coordinates": [ { "allele": "", "end": 2329, "referenceAllele": "AG", "start": 2327 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352026.1:c.1704_1705del" ], "proteinEffect": { "hgvs": "NP_001338955.1:p.Lys569ValfsTer3", "hgvsWellDefined": "NP_001338955.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS520564" }, { "coordinates": [ { "allele": "", "end": 2441, "referenceAllele": "AG", "start": 2439 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352027.1:c.1704_1705del" ], "proteinEffect": { "hgvs": "NP_001338956.1:p.Lys569ValfsTer3", "hgvsWellDefined": "NP_001338956.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS520565" }, { "coordinates": [ { "allele": "", "end": 1821, "referenceAllele": "AG", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352028.1:c.1563_1564del" ], "proteinEffect": { "hgvs": "NP_001338957.1:p.Lys522ValfsTer3", "hgvsWellDefined": "NP_001338957.1:p.[Lys522_Lys540del;Lys542_Cys551delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS520566" }, { "coordinates": [ { "allele": "", "end": 2126, "referenceAllele": "AG", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352029.1:c.1563_1564del" ], "proteinEffect": { "hgvs": "NP_001338958.1:p.Lys522ValfsTer3", "hgvsWellDefined": "NP_001338958.1:p.[Lys522_Lys540del;Lys542_Cys551delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS520567" }, { "coordinates": [ { "allele": "", "end": 2185, "referenceAllele": "AG", "start": 2183 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352030.1:c.1560_1561del" ], "proteinEffect": { "hgvs": "NP_001338959.1:p.Lys521ValfsTer3", "hgvsWellDefined": "NP_001338959.1:p.[Lys521_Lys539del;Lys541_Cys550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS520568" }, { "coordinates": [ { "allele": "", "end": 2185, "referenceAllele": "AG", "start": 2183 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352031.1:c.1560_1561del" ], "proteinEffect": { "hgvs": "NP_001338960.1:p.Lys521ValfsTer3", "hgvsWellDefined": "NP_001338960.1:p.[Lys521_Lys539del;Lys541_Cys550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS520569" }, { "coordinates": [ { "allele": "", "end": 2440, "referenceAllele": "AG", "start": 2438 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352032.1:c.1560_1561del" ], "proteinEffect": { "hgvs": "NP_001338961.1:p.Lys521ValfsTer3", "hgvsWellDefined": "NP_001338961.1:p.[Lys521_Lys539del;Lys541_Cys550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS520570" }, { "coordinates": [ { "allele": "", "end": 2188, "referenceAllele": "AG", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NR_147890.1:n.2187_2188del" ], "referenceSequence": "http://reg.genome.network/refseq/RS530874" }, { "coordinates": [ { "allele": "", "end": 2018, "referenceAllele": "AG", "start": 2016 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_005252965.4:c.1704_1705del" ], "proteinEffect": { "hgvs": "XP_005253022.1:p.Lys569ValfsTer3", "hgvsWellDefined": "XP_005253022.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS533873" }, { "coordinates": [ { "allele": "", "end": 1879, "referenceAllele": "AG", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520157.2:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518459.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518459.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS545602" }, { "coordinates": [ { "allele": "", "end": 2231, "referenceAllele": "AG", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520158.2:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518460.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518460.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS545603" }, { "coordinates": [ { "allele": "", "end": 2393, "referenceAllele": "AG", "start": 2391 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520160.3:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518462.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518462.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS545604" }, { "coordinates": [ { "allele": "", "end": 2483, "referenceAllele": "AG", "start": 2481 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520161.2:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518463.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518463.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS545605" }, { "coordinates": [ { "allele": "", "end": 2362, "referenceAllele": "AG", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520162.3:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518464.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518464.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS545606" }, { "coordinates": [ { "allele": "", "end": 2290, "referenceAllele": "AG", "start": 2288 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520164.2:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518466.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518466.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS545607" }, { "coordinates": [ { "allele": "", "end": 2245, "referenceAllele": "AG", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520165.2:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518467.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518467.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS545608" }, { "coordinates": [ { "allele": "", "end": 2169, "referenceAllele": "AG", "start": 2167 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520166.3:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518468.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518468.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS545609" }, { "coordinates": [ { "allele": "", "end": 2371, "referenceAllele": "AG", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520167.2:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518469.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518469.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS545610" }, { "coordinates": [ { "allele": "", "end": 2223, "referenceAllele": "AG", "start": 2221 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520168.2:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_011518470.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_011518470.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS545611" }, { "coordinates": [ { "allele": "", "end": 2112, "referenceAllele": "AG", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520174.2:c.1704_1705del" ], "proteinEffect": { "hgvs": "XP_011518476.1:p.Lys569ValfsTer3", "hgvsWellDefined": "XP_011518476.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS545612" }, { "coordinates": [ { "allele": "", "end": 2109, "referenceAllele": "AG", "start": 2107 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520175.2:c.1701_1702del" ], "proteinEffect": { "hgvs": "XP_011518477.1:p.Lys568ValfsTer3", "hgvsWellDefined": "XP_011518477.1:p.[Lys568_Lys586del;Lys588_Cys597delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS545613" }, { "coordinates": [ { "allele": "", "end": 1997, "referenceAllele": "AG", "start": 1995 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_011520179.3:c.1563_1564del" ], "proteinEffect": { "hgvs": "XP_011518481.1:p.Lys522ValfsTer3", "hgvsWellDefined": "XP_011518481.1:p.[Lys522_Lys540del;Lys542_Cys551delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS545614" }, { "coordinates": [ { "allele": "", "end": 2312, "referenceAllele": "AG", "start": 2310 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017885.2:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_016873374.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_016873374.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569968" }, { "coordinates": [ { "allele": "", "end": 2276, "referenceAllele": "AG", "start": 2274 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017886.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_016873375.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_016873375.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569969" }, { "coordinates": [ { "allele": "", "end": 2057, "referenceAllele": "AG", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017887.2:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_016873376.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_016873376.1:p.[Lys576_Lys594del;Lys596_Cys605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569970" }, { "coordinates": [ { "allele": "", "end": 2228, "referenceAllele": "AG", "start": 2226 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017888.1:c.1722_1723del" ], "proteinEffect": { "hgvs": "XP_016873377.1:p.Lys575ValfsTer3", "hgvsWellDefined": "XP_016873377.1:p.[Lys575_Lys593del;Lys595_Cys604delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569971" }, { "coordinates": [ { "allele": "", "end": 2228, "referenceAllele": "AG", "start": 2226 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017889.1:c.1722_1723del" ], "proteinEffect": { "hgvs": "XP_016873378.1:p.Lys575ValfsTer3", "hgvsWellDefined": "XP_016873378.1:p.[Lys575_Lys593del;Lys595_Cys604delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569972" }, { "coordinates": [ { "allele": "", "end": 2225, "referenceAllele": "AG", "start": 2223 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017890.1:c.1719_1720del" ], "proteinEffect": { "hgvs": "XP_016873379.1:p.Lys574ValfsTer3", "hgvsWellDefined": "XP_016873379.1:p.[Lys574_Lys592del;Lys594_Cys603delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569973" }, { "coordinates": [ { "allele": "", "end": 2135, "referenceAllele": "AG", "start": 2133 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017891.1:c.1701_1702del" ], "proteinEffect": { "hgvs": "XP_016873380.1:p.Lys568ValfsTer3", "hgvsWellDefined": "XP_016873380.1:p.[Lys568_Lys586del;Lys588_Cys597delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569974" }, { "coordinates": [ { "allele": "", "end": 2135, "referenceAllele": "AG", "start": 2133 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017892.1:c.1701_1702del" ], "proteinEffect": { "hgvs": "XP_016873381.1:p.Lys568ValfsTer3", "hgvsWellDefined": "XP_016873381.1:p.[Lys568_Lys586del;Lys588_Cys597delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569975" }, { "coordinates": [ { "allele": "", "end": 2231, "referenceAllele": "AG", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017893.1:c.1725_1726del" ], "proteinEffect": { "hgvs": "XP_016873382.1:p.Lys576ValfsTer3", "hgvsWellDefined": "XP_016873382.1:p.[Lys576_Lys594del;Lys596_Glu605delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569976" }, { "coordinates": [ { "allele": "", "end": 2090, "referenceAllele": "AG", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017894.1:c.1584_1585del" ], "proteinEffect": { "hgvs": "XP_016873383.1:p.Lys529ValfsTer3", "hgvsWellDefined": "XP_016873383.1:p.[Lys529_Lys547del;Lys549_Cys558delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569977" }, { "coordinates": [ { "allele": "", "end": 2087, "referenceAllele": "AG", "start": 2085 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017895.1:c.1581_1582del" ], "proteinEffect": { "hgvs": "XP_016873384.1:p.Lys528ValfsTer3", "hgvsWellDefined": "XP_016873384.1:p.[Lys528_Lys546del;Lys548_Cys557delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569978" }, { "coordinates": [ { "allele": "", "end": 2087, "referenceAllele": "AG", "start": 2085 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017896.1:c.1581_1582del" ], "proteinEffect": { "hgvs": "XP_016873385.1:p.Lys528ValfsTer3", "hgvsWellDefined": "XP_016873385.1:p.[Lys528_Lys546del;Lys548_Cys557delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569979" }, { "coordinates": [ { "allele": "", "end": 2308, "referenceAllele": "AG", "start": 2306 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017897.1:c.1569_1570del" ], "proteinEffect": { "hgvs": "XP_016873386.1:p.Lys524ValfsTer3", "hgvsWellDefined": "XP_016873386.1:p.[Lys524_Lys542del;Lys544_Cys553delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569980" }, { "coordinates": [ { "allele": "", "end": 2167, "referenceAllele": "AG", "start": 2165 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017898.2:c.1569_1570del" ], "proteinEffect": { "hgvs": "XP_016873387.1:p.Lys524ValfsTer3", "hgvsWellDefined": "XP_016873387.1:p.[Lys524_Lys542del;Lys544_Cys553delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569981" }, { "coordinates": [ { "allele": "", "end": 2300, "referenceAllele": "AG", "start": 2298 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017899.1:c.1569_1570del" ], "proteinEffect": { "hgvs": "XP_016873388.1:p.Lys524ValfsTer3", "hgvsWellDefined": "XP_016873388.1:p.[Lys524_Lys542del;Lys544_Cys553delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569982" }, { "coordinates": [ { "allele": "", "end": 2255, "referenceAllele": "AG", "start": 2253 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017900.1:c.1569_1570del" ], "proteinEffect": { "hgvs": "XP_016873389.1:p.Lys524ValfsTer3", "hgvsWellDefined": "XP_016873389.1:p.[Lys524_Lys542del;Lys544_Cys553delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569983" }, { "coordinates": [ { "allele": "", "end": 2075, "referenceAllele": "AG", "start": 2073 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017901.1:c.1569_1570del" ], "proteinEffect": { "hgvs": "XP_016873390.1:p.Lys524ValfsTer3", "hgvsWellDefined": "XP_016873390.1:p.[Lys524_Lys542del;Lys544_Cys553delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569984" }, { "coordinates": [ { "allele": "", "end": 1994, "referenceAllele": "AG", "start": 1992 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017902.1:c.1560_1561del" ], "proteinEffect": { "hgvs": "XP_016873391.1:p.Lys521ValfsTer3", "hgvsWellDefined": "XP_016873391.1:p.[Lys521_Lys539del;Lys541_Cys550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569985" }, { "coordinates": [ { "allele": "", "end": 1979, "referenceAllele": "AG", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017905.1:c.1473_1474del" ], "proteinEffect": { "hgvs": "XP_016873394.1:p.Lys492ValfsTer3", "hgvsWellDefined": "XP_016873394.1:p.[Lys492_Lys510del;Lys512_Cys521delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569986" }, { "coordinates": [ { "allele": "", "end": 1861, "referenceAllele": "AG", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017906.2:c.1560_1561del" ], "proteinEffect": { "hgvs": "XP_016873395.1:p.Lys521ValfsTer3", "hgvsWellDefined": "XP_016873395.1:p.[Lys521_Lys539del;Lys541_Glu550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569987" }, { "coordinates": [ { "allele": "", "end": 1886, "referenceAllele": "AG", "start": 1884 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017907.1:c.1452_1453del" ], "proteinEffect": { "hgvs": "XP_016873396.1:p.Lys485ValfsTer3", "hgvsWellDefined": "XP_016873396.1:p.[Lys485_Lys503del;Lys505_Cys514delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569988" }, { "coordinates": [ { "allele": "", "end": 2399, "referenceAllele": "AG", "start": 2397 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_017017908.1:c.1320_1321del" ], "proteinEffect": { "hgvs": "XP_016873397.1:p.Lys441ValfsTer3", "hgvsWellDefined": "XP_016873397.1:p.[Lys441_Lys459del;Lys461_Cys470delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS569989" }, { "coordinates": [ { "allele": "", "end": 2381, "referenceAllele": "AG", "start": 2379 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_024448574.1:c.1704_1705del" ], "proteinEffect": { "hgvs": "XP_024304342.1:p.Lys569ValfsTer3", "hgvsWellDefined": "XP_024304342.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS582145" }, { "coordinates": [ { "allele": "", "end": 2081, "referenceAllele": "AG", "start": 2079 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_024448575.1:c.1704_1705del" ], "proteinEffect": { "hgvs": "XP_024304343.1:p.Lys569ValfsTer3", "hgvsWellDefined": "XP_024304343.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS582146" }, { "coordinates": [ { "allele": "", "end": 2037, "referenceAllele": "AG", "start": 2035 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_024448576.1:c.1704_1705del" ], "proteinEffect": { "hgvs": "XP_024304344.1:p.Lys569ValfsTer3", "hgvsWellDefined": "XP_024304344.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS582147" }, { "coordinates": [ { "allele": "", "end": 1994, "referenceAllele": "AG", "start": 1992 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_024448577.1:c.1560_1561del" ], "proteinEffect": { "hgvs": "XP_024304345.1:p.Lys521ValfsTer3", "hgvsWellDefined": "XP_024304345.1:p.[Lys521_Lys539del;Lys541_Cys550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS582148" }, { "coordinates": [ { "allele": "", "end": 2038, "referenceAllele": "AG", "start": 2036 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XM_024448578.1:c.1560_1561del" ], "proteinEffect": { "hgvs": "XP_024304346.1:p.Lys521ValfsTer3", "hgvsWellDefined": "XP_024304346.1:p.[Lys521_Lys539del;Lys541_Cys550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS582149" }, { "coordinates": [ { "allele": "", "end": 2231, "referenceAllele": "AG", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XR_001747900.1:n.2230_2231del" ], "referenceSequence": "http://reg.genome.network/refseq/RS595987" }, { "coordinates": [ { "allele": "", "end": 2100, "referenceAllele": "AG", "start": 2098 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "XR_001747902.2:n.2099_2100del" ], "referenceSequence": "http://reg.genome.network/refseq/RS595988" }, { "coordinates": [ { "allele": "", "end": 1877, "referenceAllele": "AG", "start": 1875 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001101802.2:c.1701_1702del" ], "proteinEffect": { "hgvs": "NP_001095272.1:p.Lys568ValfsTer3", "hgvsWellDefined": "NP_001095272.1:p.[Lys568_Lys586del;Lys588_Cys597delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS676586" }, { "coordinates": [ { "allele": "", "end": 2023, "referenceAllele": "AG", "start": 2021 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352025.2:c.1704_1705del" ], "proteinEffect": { "hgvs": "NP_001338954.1:p.Lys569ValfsTer3", "hgvsWellDefined": "NP_001338954.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS689027" }, { "coordinates": [ { "allele": "", "end": 1880, "referenceAllele": "AG", "start": 1878 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352026.2:c.1704_1705del" ], "proteinEffect": { "hgvs": "NP_001338955.1:p.Lys569ValfsTer3", "hgvsWellDefined": "NP_001338955.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS689028" }, { "coordinates": [ { "allele": "", "end": 1992, "referenceAllele": "AG", "start": 1990 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352027.2:c.1704_1705del" ], "proteinEffect": { "hgvs": "NP_001338956.1:p.Lys569ValfsTer3", "hgvsWellDefined": "NP_001338956.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS689029" }, { "coordinates": [ { "allele": "", "end": 1736, "referenceAllele": "AG", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352030.2:c.1560_1561del" ], "proteinEffect": { "hgvs": "NP_001338959.1:p.Lys521ValfsTer3", "hgvsWellDefined": "NP_001338959.1:p.[Lys521_Lys539del;Lys541_Cys550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS689030" }, { "coordinates": [ { "allele": "", "end": 1736, "referenceAllele": "AG", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352031.2:c.1560_1561del" ], "proteinEffect": { "hgvs": "NP_001338960.1:p.Lys521ValfsTer3", "hgvsWellDefined": "NP_001338960.1:p.[Lys521_Lys539del;Lys541_Cys550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS689031" }, { "coordinates": [ { "allele": "", "end": 1991, "referenceAllele": "AG", "start": 1989 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352032.2:c.1560_1561del" ], "proteinEffect": { "hgvs": "NP_001338961.1:p.Lys521ValfsTer3", "hgvsWellDefined": "NP_001338961.1:p.[Lys521_Lys539del;Lys541_Cys550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS689032" }, { "coordinates": [ { "allele": "", "end": 1739, "referenceAllele": "AG", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_016621.4:c.1563_1564del" ], "proteinEffect": { "hgvs": "NP_057705.3:p.Lys522ValfsTer3", "hgvsWellDefined": "NP_057705.3:p.[Lys522_Lys540del;Lys542_Cys551delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS697766" }, { "coordinates": [ { "allele": "", "end": 1739, "referenceAllele": "AG", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NR_147890.2:n.1738_1739del" ], "referenceSequence": "http://reg.genome.network/refseq/RS704587" }, { "coordinates": [ { "allele": "", "end": 2346, "referenceAllele": "AG", "start": 2344 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001101802.3:c.1701_1702del" ], "proteinEffect": { "hgvs": "NP_001095272.1:p.Lys568ValfsTer3", "hgvsWellDefined": "NP_001095272.1:p.[Lys568_Lys586del;Lys588_Cys597delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS712034" }, { "coordinates": [ { "allele": "", "end": 2492, "referenceAllele": "AG", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352025.3:c.1704_1705del" ], "proteinEffect": { "hgvs": "NP_001338954.1:p.Lys569ValfsTer3", "hgvsWellDefined": "NP_001338954.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS719954" }, { "coordinates": [ { "allele": "", "end": 2349, "referenceAllele": "AG", "start": 2347 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352026.3:c.1704_1705del" ], "proteinEffect": { "hgvs": "NP_001338955.1:p.Lys569ValfsTer3", "hgvsWellDefined": "NP_001338955.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS719955" }, { "coordinates": [ { "allele": "", "end": 2461, "referenceAllele": "AG", "start": 2459 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352027.3:c.1704_1705del" ], "proteinEffect": { "hgvs": "NP_001338956.1:p.Lys569ValfsTer3", "hgvsWellDefined": "NP_001338956.1:p.[Lys569_Lys587del;Lys589_Cys598delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS719956", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000676320.1:c.1704_1705del" }, "RefSeq": { "hgvs": "NM_001352027.3:c.1704_1705del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000502222.1:p.Lys569ValfsTer3" }, "RefSeq": { "hgvs": "NP_001338956.1:p.Lys569ValfsTer3" } } } }, { "coordinates": [ { "allele": "", "end": 2205, "referenceAllele": "AG", "start": 2203 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352030.3:c.1560_1561del" ], "proteinEffect": { "hgvs": "NP_001338959.1:p.Lys521ValfsTer3", "hgvsWellDefined": "NP_001338959.1:p.[Lys521_Lys539del;Lys541_Cys550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS719957" }, { "coordinates": [ { "allele": "", "end": 2205, "referenceAllele": "AG", "start": 2203 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352031.3:c.1560_1561del" ], "proteinEffect": { "hgvs": "NP_001338960.1:p.Lys521ValfsTer3", "hgvsWellDefined": "NP_001338960.1:p.[Lys521_Lys539del;Lys541_Cys550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS719958" }, { "coordinates": [ { "allele": "", "end": 2460, "referenceAllele": "AG", "start": 2458 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_001352032.3:c.1560_1561del" ], "proteinEffect": { "hgvs": "NP_001338961.1:p.Lys521ValfsTer3", "hgvsWellDefined": "NP_001338961.1:p.[Lys521_Lys539del;Lys541_Cys550delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS719959" }, { "coordinates": [ { "allele": "", "end": 2208, "referenceAllele": "AG", "start": 2206 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NM_016621.5:c.1563_1564del" ], "proteinEffect": { "hgvs": "NP_057705.3:p.Lys522ValfsTer3", "hgvsWellDefined": "NP_057705.3:p.[Lys522_Lys540del;Lys542_Cys551delinsThr]" }, "referenceSequence": "http://reg.genome.network/refseq/RS728201" }, { "coordinates": [ { "allele": "", "end": 2208, "referenceAllele": "AG", "start": 2206 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NR_147890.3:n.2207_2208del" ], "referenceSequence": "http://reg.genome.network/refseq/RS731399" }, { "coordinates": [ { "allele": "", "end": 2444, "referenceAllele": "AG", "start": 2442 } ], "gene": "http://reg.genome.network/gene/GN024156", "geneNCBI_id": 51317, "geneSymbol": "PHF21A", "hgvs": [ "NR_165446.1:n.2443_2444del" ], "referenceSequence": "http://reg.genome.network/refseq/RS731711" } ], "type": "nucleotide" }