{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA367530986", "communityStandardTitle": [ "NM_006060.6(IKZF1):c.500A>T (p.His167Leu)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5997601", "active": true, "id": "COSM5997601" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.50450316A>T?assembly=hg19", "id": "chr7:g.50450316A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.50382618A>T?assembly=hg38", "id": "chr7:g.50382618A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/869312884", "rs": 869312884 } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 50382618, "referenceAllele": "A", "start": 50382617 } ], "hgvs": [ "NC_000007.14:g.50382618A>T", "CM000669.2:g.50382618A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 50450316, "referenceAllele": "A", "start": 50450315 } ], "hgvs": [ "NC_000007.13:g.50450316A>T", "CM000669.1:g.50450316A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 50417810, "referenceAllele": "A", "start": 50417809 } ], "hgvs": [ "NC_000007.12:g.50417810A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 83536, "referenceAllele": "A", "start": 83535 } ], "hgvs": [ "NG_034231.1:g.83536A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005818" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "A", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000642219.2:c.299A>T" ], "proteinEffect": { "hgvs": "ENSP00000496655.2:p.His100Leu", "hgvsWellDefined": "ENSP00000496655.2:p.His100Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS906410" }, { "coordinates": [ { "allele": "T", "end": 300, "referenceAllele": "A", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000698573.1:c.239A>T" ], "proteinEffect": { "hgvs": "ENSP00000513804.1:p.His80Leu", "hgvsWellDefined": "ENSP00000513804.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS909529" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "A", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000698574.1:c.560A>T" ], "proteinEffect": { "hgvs": "ENSP00000513805.1:p.His187Leu", "hgvsWellDefined": "ENSP00000513805.1:p.His187Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS909530" }, { "coordinates": [ { "allele": "T", "end": 576, "endIntronDirection": "+", "endIntronOffset": 5825, "referenceAllele": "A", "start": 576, "startIntronDirection": "+", "startIntronOffset": 5824 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000698575.1:c.421+5825A>T" ], "proteinEffect": { "hgvs": "ENSP00000513806.1:n.421+5825A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS909531" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "A", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000331340.8:c.500A>T" ], "proteinEffect": { "hgvs": "ENSP00000331614.3:p.His167Leu", "hgvsWellDefined": "ENSP00000331614.3:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS747146", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331340.8:c.500A>T" }, "RefSeq": { "hgvs": "NM_006060.6:c.500A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331614.3:p.His167Leu" }, "RefSeq": { "hgvs": "NP_006051.1:p.His167Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "A", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000439701.2:c.500A>T" ], "proteinEffect": { "hgvs": "ENSP00000413025.1:p.His167Leu", "hgvsWellDefined": "ENSP00000413025.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS755762" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "A", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000645066.1:c.239A>T" ], "proteinEffect": { "hgvs": "ENSP00000494055.1:p.His80Leu", "hgvsWellDefined": "ENSP00000494055.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS768151" }, { "coordinates": [ { "allele": "T", "end": 655, "referenceAllele": "A", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000331340.7:c.500A>T" ], "proteinEffect": { "hgvs": "ENSP00000331614.3:p.His167Leu", "hgvsWellDefined": "ENSP00000331614.3:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS259387" }, { "coordinates": [ { "allele": "T", "end": 394, "referenceAllele": "A", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000343574.9:c.239A>T" ], "proteinEffect": { "hgvs": "ENSP00000342750.5:p.His80Leu", "hgvsWellDefined": "ENSP00000342750.5:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS261793" }, { "coordinates": [ { "allele": "T", "end": 195, "endIntronDirection": "-", "endIntronOffset": 17299, "referenceAllele": "A", "start": 195, "startIntronDirection": "-", "startIntronOffset": 17300 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000346667.8:c.41-17300A>T" ], "proteinEffect": { "hgvs": "ENSP00000340080.5:n.41-17300A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS262288" }, { "coordinates": [ { "allele": "T", "end": 576, "endIntronDirection": "+", "endIntronOffset": 5825, "referenceAllele": "A", "start": 576, "startIntronDirection": "+", "startIntronOffset": 5824 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000349824.8:c.421+5825A>T" ], "proteinEffect": { "hgvs": "ENSP00000342485.4:n.421+5825A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS262628" }, { "coordinates": [ { "allele": "T", "end": 655, "referenceAllele": "A", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000357364.8:c.500A>T" ], "proteinEffect": { "hgvs": "ENSP00000349928.4:p.His167Leu", "hgvsWellDefined": "ENSP00000349928.4:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS264069" }, { "coordinates": [ { "allele": "T", "end": 655, "referenceAllele": "A", "start": 654 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000359197.9:c.500A>T" ], "proteinEffect": { "hgvs": "ENSP00000352123.5:p.His167Leu", "hgvsWellDefined": "ENSP00000352123.5:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS264708" }, { "coordinates": [ { "allele": "T", "end": 109, "endIntronDirection": "-", "endIntronOffset": 17299, "referenceAllele": "A", "start": 109, "startIntronDirection": "-", "startIntronOffset": 17300 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000426121.1:c.110-17300A>T" ], "proteinEffect": { "hgvs": "ENSP00000409588.1:n.110-17300A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS289073" }, { "coordinates": [ { "allele": "T", "end": 439, "referenceAllele": "A", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000438033.5:c.239A>T" ], "proteinEffect": { "hgvs": "ENSP00000396554.1:p.His80Leu", "hgvsWellDefined": "ENSP00000396554.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS294739" }, { "coordinates": [ { "allele": "T", "end": 699, "referenceAllele": "A", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000439701.1:c.500A>T" ], "proteinEffect": { "hgvs": "ENSP00000413025.1:p.His167Leu", "hgvsWellDefined": "ENSP00000413025.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS295558" }, { "coordinates": [ { "allele": "T", "end": 195, "endIntronDirection": "-", "endIntronOffset": 9110, "referenceAllele": "A", "start": 195, "startIntronDirection": "-", "startIntronOffset": 9111 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000440768.6:c.41-9111A>T" ], "proteinEffect": { "hgvs": "ENSP00000401507.3:n.41-9111A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS296049" }, { "coordinates": [ { "allele": "T", "end": 719, "referenceAllele": "A", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000471793.1:n.719A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS313914" }, { "coordinates": [ { "allele": "T", "end": 449, "endIntronDirection": "+", "endIntronOffset": 5, "referenceAllele": "A", "start": 449, "startIntronDirection": "+", "startIntronOffset": 4 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000612658.4:c.294+5A>T" ], "proteinEffect": { "hgvs": "ENSP00000483016.1:n.294+5A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS401400" }, { "coordinates": [ { "allele": "T", "end": 195, "endIntronDirection": "-", "endIntronOffset": 4726, "referenceAllele": "A", "start": 195, "startIntronDirection": "-", "startIntronOffset": 4727 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "ENST00000615491.4:c.41-4727A>T" ], "proteinEffect": { "hgvs": "ENSP00000478368.1:n.41-4727A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS402638" }, { "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "A", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001220765.2:c.500A>T" ], "proteinEffect": { "hgvs": "NP_001207694.1:p.His167Leu", "hgvsWellDefined": "NP_001207694.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS018030" }, { "coordinates": [ { "allele": "T", "end": 253, "referenceAllele": "A", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001220767.2:c.239A>T" ], "proteinEffect": { "hgvs": "NP_001207696.1:p.His80Leu", "hgvsWellDefined": "NP_001207696.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS018031" }, { "coordinates": [ { "allele": "T", "end": 514, "referenceAllele": "A", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001220768.2:c.500A>T" ], "proteinEffect": { "hgvs": "NP_001207697.1:p.His167Leu", "hgvsWellDefined": "NP_001207697.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS018032" }, { "coordinates": [ { "allele": "T", "end": 253, "referenceAllele": "A", "start": 252 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001220770.2:c.239A>T" ], "proteinEffect": { "hgvs": "NP_001207699.1:p.His80Leu", "hgvsWellDefined": "NP_001207699.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS018033" }, { "coordinates": [ { "allele": "T", "end": 435, "endIntronDirection": "+", "endIntronOffset": 5825, "referenceAllele": "A", "start": 435, "startIntronDirection": "+", "startIntronOffset": 5824 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001220771.2:c.421+5825A>T" ], "proteinEffect": { "hgvs": "NP_001207700.1:n.421+5825A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS018034" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "A", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001291837.1:c.500A>T" ], "proteinEffect": { "hgvs": "NP_001278766.1:p.His167Leu", "hgvsWellDefined": "NP_001278766.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS024334" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "A", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001291838.1:c.239A>T" ], "proteinEffect": { "hgvs": "NP_001278767.1:p.His80Leu", "hgvsWellDefined": "NP_001278767.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS024335" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "A", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001291839.1:c.239A>T" ], "proteinEffect": { "hgvs": "NP_001278768.1:p.His80Leu", "hgvsWellDefined": "NP_001278768.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS024336" }, { "coordinates": [ { "allele": "T", "end": 174, "endIntronDirection": "-", "endIntronOffset": 17299, "referenceAllele": "A", "start": 174, "startIntronDirection": "-", "startIntronOffset": 17300 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001291840.1:c.161-17300A>T" ], "proteinEffect": { "hgvs": "NP_001278769.1:n.161-17300A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS024337" }, { "coordinates": [ { "allele": "T", "end": 174, "endIntronDirection": "-", "endIntronOffset": 4726, "referenceAllele": "A", "start": 174, "startIntronDirection": "-", "startIntronOffset": 4727 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001291841.1:c.161-4727A>T" ], "proteinEffect": { "hgvs": "NP_001278770.1:n.161-4727A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS024338" }, { "coordinates": [ { "allele": "T", "end": 174, "endIntronDirection": "-", "endIntronOffset": 4726, "referenceAllele": "A", "start": 174, "startIntronDirection": "-", "startIntronOffset": 4727 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001291842.1:c.161-4727A>T" ], "proteinEffect": { "hgvs": "NP_001278771.1:n.161-4727A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS024339" }, { "coordinates": [ { "allele": "T", "end": 174, "endIntronDirection": "-", "endIntronOffset": 9110, "referenceAllele": "A", "start": 174, "startIntronDirection": "-", "startIntronOffset": 9111 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001291843.1:c.161-9111A>T" ], "proteinEffect": { "hgvs": "NP_001278772.1:n.161-9111A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS024340" }, { "coordinates": [ { "allele": "T", "end": 174, "endIntronDirection": "-", "endIntronOffset": 9110, "referenceAllele": "A", "start": 174, "startIntronDirection": "-", "startIntronOffset": 9111 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001291844.1:c.161-9111A>T" ], "proteinEffect": { "hgvs": "NP_001278773.1:n.161-9111A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS024341" }, { "@id": "http://reg.genome.network/allele/PA3073873787", "coordinates": [ { "allele": "T", "end": 768, "referenceAllele": "A", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_006060.5:c.500A>T" ], "proteinEffect": { "hgvs": "NP_006051.1:p.His167Leu", "hgvsWellDefined": "NP_006051.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS031102" }, { "coordinates": [ { "allele": "T", "end": 638, "referenceAllele": "A", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515058.1:c.632A>T" ], "proteinEffect": { "hgvs": "XP_011513360.1:p.His211Leu", "hgvsWellDefined": "XP_011513360.1:p.His211Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082278" }, { "coordinates": [ { "allele": "T", "end": 642, "referenceAllele": "A", "start": 641 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515059.1:c.632A>T" ], "proteinEffect": { "hgvs": "XP_011513361.1:p.His211Leu", "hgvsWellDefined": "XP_011513361.1:p.His211Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082279" }, { "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "A", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515060.1:c.590A>T" ], "proteinEffect": { "hgvs": "XP_011513362.1:p.His197Leu", "hgvsWellDefined": "XP_011513362.1:p.His197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082280" }, { "coordinates": [ { "allele": "T", "end": 576, "referenceAllele": "A", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515061.1:c.572A>T" ], "proteinEffect": { "hgvs": "XP_011513363.1:p.His191Leu", "hgvsWellDefined": "XP_011513363.1:p.His191Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082281" }, { "coordinates": [ { "allele": "T", "end": 938, "referenceAllele": "A", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515062.1:c.560A>T" ], "proteinEffect": { "hgvs": "XP_011513364.1:p.His187Leu", "hgvsWellDefined": "XP_011513364.1:p.His187Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082282" }, { "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "A", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515063.1:c.560A>T" ], "proteinEffect": { "hgvs": "XP_011513365.1:p.His187Leu", "hgvsWellDefined": "XP_011513365.1:p.His187Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082283" }, { "coordinates": [ { "allele": "T", "end": 870, "referenceAllele": "A", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515064.1:c.560A>T" ], "proteinEffect": { "hgvs": "XP_011513366.1:p.His187Leu", "hgvsWellDefined": "XP_011513366.1:p.His187Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082284" }, { "coordinates": [ { "allele": "T", "end": 620, "referenceAllele": "A", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515065.1:c.560A>T" ], "proteinEffect": { "hgvs": "XP_011513367.1:p.His187Leu", "hgvsWellDefined": "XP_011513367.1:p.His187Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082285" }, { "coordinates": [ { "allele": "T", "end": 714, "referenceAllele": "A", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515066.1:c.560A>T" ], "proteinEffect": { "hgvs": "XP_011513368.1:p.His187Leu", "hgvsWellDefined": "XP_011513368.1:p.His187Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082286" }, { "coordinates": [ { "allele": "T", "end": 643, "referenceAllele": "A", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515067.1:c.632A>T" ], "proteinEffect": { "hgvs": "XP_011513369.1:p.His211Leu", "hgvsWellDefined": "XP_011513369.1:p.His211Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082287" }, { "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "A", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515068.1:c.500A>T" ], "proteinEffect": { "hgvs": "XP_011513370.1:p.His167Leu", "hgvsWellDefined": "XP_011513370.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082288" }, { "coordinates": [ { "allele": "T", "end": 807, "referenceAllele": "A", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515069.1:c.500A>T" ], "proteinEffect": { "hgvs": "XP_011513371.1:p.His167Leu", "hgvsWellDefined": "XP_011513371.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082289" }, { "coordinates": [ { "allele": "T", "end": 581, "referenceAllele": "A", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515070.1:c.572A>T" ], "proteinEffect": { "hgvs": "XP_011513372.1:p.His191Leu", "hgvsWellDefined": "XP_011513372.1:p.His191Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082290" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "A", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515071.1:c.371A>T" ], "proteinEffect": { "hgvs": "XP_011513373.1:p.His124Leu", "hgvsWellDefined": "XP_011513373.1:p.His124Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082291" }, { "coordinates": [ { "allele": "T", "end": 316, "referenceAllele": "A", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515072.1:c.311A>T" ], "proteinEffect": { "hgvs": "XP_011513374.1:p.His104Leu", "hgvsWellDefined": "XP_011513374.1:p.His104Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082292" }, { "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "A", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515073.1:c.299A>T" ], "proteinEffect": { "hgvs": "XP_011513375.1:p.His100Leu", "hgvsWellDefined": "XP_011513375.1:p.His100Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082293" }, { "coordinates": [ { "allele": "T", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515074.1:c.311A>T" ], "proteinEffect": { "hgvs": "XP_011513376.1:p.His104Leu", "hgvsWellDefined": "XP_011513376.1:p.His104Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082294" }, { "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "A", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515075.1:c.239A>T" ], "proteinEffect": { "hgvs": "XP_011513377.1:p.His80Leu", "hgvsWellDefined": "XP_011513377.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082295" }, { "coordinates": [ { "allele": "T", "end": 534, "referenceAllele": "A", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515076.1:c.239A>T" ], "proteinEffect": { "hgvs": "XP_011513378.1:p.His80Leu", "hgvsWellDefined": "XP_011513378.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082296" }, { "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "A", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515077.1:c.311A>T" ], "proteinEffect": { "hgvs": "XP_011513379.1:p.His104Leu", "hgvsWellDefined": "XP_011513379.1:p.His104Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082297" }, { "coordinates": [ { "allele": "T", "end": 329, "referenceAllele": "A", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515078.1:c.311A>T" ], "proteinEffect": { "hgvs": "XP_011513380.1:p.His104Leu", "hgvsWellDefined": "XP_011513380.1:p.His104Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS082298" }, { "@id": "http://reg.genome.network/allele/PA3073873787", "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "A", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_006060.6:c.500A>T" ], "proteinEffect": { "hgvs": "NP_006051.1:p.His167Leu", "hgvsWellDefined": "NP_006051.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS525367", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331340.8:c.500A>T" }, "RefSeq": { "hgvs": "NM_006060.6:c.500A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000331614.3:p.His167Leu" }, "RefSeq": { "hgvs": "NP_006051.1:p.His167Leu" } } } }, { "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "A", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515058.2:c.632A>T" ], "proteinEffect": { "hgvs": "XP_011513360.1:p.His211Leu", "hgvsWellDefined": "XP_011513360.1:p.His211Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543569" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "A", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515059.3:c.632A>T" ], "proteinEffect": { "hgvs": "XP_011513361.1:p.His211Leu", "hgvsWellDefined": "XP_011513361.1:p.His211Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543570" }, { "coordinates": [ { "allele": "T", "end": 3808, "referenceAllele": "A", "start": 3807 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515060.2:c.590A>T" ], "proteinEffect": { "hgvs": "XP_011513362.1:p.His197Leu", "hgvsWellDefined": "XP_011513362.1:p.His197Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543571" }, { "coordinates": [ { "allele": "T", "end": 597, "referenceAllele": "A", "start": 596 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515061.3:c.572A>T" ], "proteinEffect": { "hgvs": "XP_011513363.1:p.His191Leu", "hgvsWellDefined": "XP_011513363.1:p.His191Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543572" }, { "coordinates": [ { "allele": "T", "end": 938, "referenceAllele": "A", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515062.2:c.560A>T" ], "proteinEffect": { "hgvs": "XP_011513364.1:p.His187Leu", "hgvsWellDefined": "XP_011513364.1:p.His187Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543573" }, { "coordinates": [ { "allele": "T", "end": 855, "referenceAllele": "A", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515063.2:c.560A>T" ], "proteinEffect": { "hgvs": "XP_011513365.1:p.His187Leu", "hgvsWellDefined": "XP_011513365.1:p.His187Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543574" }, { "coordinates": [ { "allele": "T", "end": 4487, "referenceAllele": "A", "start": 4486 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515064.3:c.560A>T" ], "proteinEffect": { "hgvs": "XP_011513366.1:p.His187Leu", "hgvsWellDefined": "XP_011513366.1:p.His187Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543575" }, { "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "A", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515065.2:c.560A>T" ], "proteinEffect": { "hgvs": "XP_011513367.1:p.His187Leu", "hgvsWellDefined": "XP_011513367.1:p.His187Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543576" }, { "coordinates": [ { "allele": "T", "end": 727, "referenceAllele": "A", "start": 726 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515066.2:c.560A>T" ], "proteinEffect": { "hgvs": "XP_011513368.1:p.His187Leu", "hgvsWellDefined": "XP_011513368.1:p.His187Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543577" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "A", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515067.3:c.632A>T" ], "proteinEffect": { "hgvs": "XP_011513369.1:p.His211Leu", "hgvsWellDefined": "XP_011513369.1:p.His211Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543578" }, { "coordinates": [ { "allele": "T", "end": 795, "referenceAllele": "A", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515068.2:c.500A>T" ], "proteinEffect": { "hgvs": "XP_011513370.1:p.His167Leu", "hgvsWellDefined": "XP_011513370.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543579" }, { "coordinates": [ { "allele": "T", "end": 4423, "referenceAllele": "A", "start": 4422 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515069.2:c.500A>T" ], "proteinEffect": { "hgvs": "XP_011513371.1:p.His167Leu", "hgvsWellDefined": "XP_011513371.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543580" }, { "coordinates": [ { "allele": "T", "end": 599, "referenceAllele": "A", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515070.2:c.572A>T" ], "proteinEffect": { "hgvs": "XP_011513372.1:p.His191Leu", "hgvsWellDefined": "XP_011513372.1:p.His191Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543581" }, { "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "A", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515071.2:c.371A>T" ], "proteinEffect": { "hgvs": "XP_011513373.1:p.His124Leu", "hgvsWellDefined": "XP_011513373.1:p.His124Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543582" }, { "coordinates": [ { "allele": "T", "end": 335, "referenceAllele": "A", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515072.2:c.311A>T" ], "proteinEffect": { "hgvs": "XP_011513374.1:p.His104Leu", "hgvsWellDefined": "XP_011513374.1:p.His104Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543583" }, { "coordinates": [ { "allele": "T", "end": 677, "referenceAllele": "A", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515073.2:c.299A>T" ], "proteinEffect": { "hgvs": "XP_011513375.1:p.His100Leu", "hgvsWellDefined": "XP_011513375.1:p.His100Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543584" }, { "coordinates": [ { "allele": "T", "end": 338, "referenceAllele": "A", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515074.2:c.311A>T" ], "proteinEffect": { "hgvs": "XP_011513376.1:p.His104Leu", "hgvsWellDefined": "XP_011513376.1:p.His104Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543585" }, { "coordinates": [ { "allele": "T", "end": 617, "referenceAllele": "A", "start": 616 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515075.2:c.239A>T" ], "proteinEffect": { "hgvs": "XP_011513377.1:p.His80Leu", "hgvsWellDefined": "XP_011513377.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543586" }, { "coordinates": [ { "allele": "T", "end": 561, "referenceAllele": "A", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515076.2:c.239A>T" ], "proteinEffect": { "hgvs": "XP_011513378.1:p.His80Leu", "hgvsWellDefined": "XP_011513378.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543587" }, { "coordinates": [ { "allele": "T", "end": 338, "referenceAllele": "A", "start": 337 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515077.2:c.311A>T" ], "proteinEffect": { "hgvs": "XP_011513379.1:p.His104Leu", "hgvsWellDefined": "XP_011513379.1:p.His104Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543588" }, { "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "A", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_011515078.2:c.311A>T" ], "proteinEffect": { "hgvs": "XP_011513380.1:p.His104Leu", "hgvsWellDefined": "XP_011513380.1:p.His104Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS543589" }, { "coordinates": [ { "allele": "T", "end": 594, "referenceAllele": "A", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_017011667.1:c.299A>T" ], "proteinEffect": { "hgvs": "XP_016867156.1:p.His100Leu", "hgvsWellDefined": "XP_016867156.1:p.His100Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS565466" }, { "coordinates": [ { "allele": "T", "end": 301, "referenceAllele": "A", "start": 300 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_017011668.1:c.239A>T" ], "proteinEffect": { "hgvs": "XP_016867157.1:p.His80Leu", "hgvsWellDefined": "XP_016867157.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS565467" }, { "coordinates": [ { "allele": "T", "end": 563, "referenceAllele": "A", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_017011669.1:c.500A>T" ], "proteinEffect": { "hgvs": "XP_016867158.1:p.His167Leu", "hgvsWellDefined": "XP_016867158.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS565468" }, { "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "A", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "XM_017011670.1:c.500A>T" ], "proteinEffect": { "hgvs": "XP_016867159.1:p.His167Leu", "hgvsWellDefined": "XP_016867159.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS565469" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "A", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001220765.3:c.500A>T" ], "proteinEffect": { "hgvs": "NP_001207694.1:p.His167Leu", "hgvsWellDefined": "NP_001207694.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS680036" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "A", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001291837.2:c.500A>T" ], "proteinEffect": { "hgvs": "NP_001278766.1:p.His167Leu", "hgvsWellDefined": "NP_001278766.1:p.His167Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS682876" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "A", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001291838.2:c.239A>T" ], "proteinEffect": { "hgvs": "NP_001278767.1:p.His80Leu", "hgvsWellDefined": "NP_001278767.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS682877" }, { "coordinates": [ { "allele": "T", "end": 304, "referenceAllele": "A", "start": 303 } ], "gene": "http://reg.genome.network/gene/GN013176", "geneNCBI_id": 10320, "geneSymbol": "IKZF1", "hgvs": [ "NM_001291839.2:c.239A>T" ], "proteinEffect": { "hgvs": "NP_001278768.1:p.His80Leu", "hgvsWellDefined": "NP_001278768.1:p.His80Leu" }, "referenceSequence": "http://reg.genome.network/refseq/RS682878" } ], "type": "nucleotide" }