{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA252731", "communityStandardTitle": [ "NM_020436.5(SALL4):c.1849C>T (p.Arg617Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18365[alleleid]", "alleleId": 18365, "preferredName": "NM_020436.5(SALL4):c.1849C>T (p.Arg617Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3326", "RCV": [ "RCV000003490" ], "variationId": 3326 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.50407173G>A?assembly=hg19", "id": "chr20:g.50407173G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.51790634G>A?assembly=hg38", "id": "chr20:g.51790634G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/74315427", "rs": 74315427 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-51790634-G-A?dataset=gnomad_r4", "id": "20-51790634-G-A", "variant": "20:51790634 G / A" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 51790634, "referenceAllele": "G", "start": 51790633 } ], "hgvs": [ "NC_000020.11:g.51790634G>A", "CM000682.2:g.51790634G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 50407173, "referenceAllele": "G", "start": 50407172 } ], "hgvs": [ "NC_000020.10:g.50407173G>A", "CM000682.1:g.50407173G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 49840580, "referenceAllele": "G", "start": 49840579 } ], "hgvs": [ "NC_000020.9:g.49840580G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 16876, "referenceAllele": "C", "start": 16875 } ], "hgvs": [ "NG_008000.1:g.16876C>T", "LRG_675:g.16876C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000764" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1962, "referenceAllele": "C", "start": 1961 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "ENST00000217086.9:c.1849C>T" ], "proteinEffect": { "hgvs": "ENSP00000217086.4:p.Arg617Ter", "hgvsWellDefined": "ENSP00000217086.4:p.Arg617_Ser1053delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740349", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000217086.9:c.1849C>T" }, "RefSeq": { "hgvs": "NM_020436.5:c.1849C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000217086.4:p.Arg617Ter" }, "RefSeq": { "hgvs": "NP_065169.1:p.Arg617Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1961, "referenceAllele": "C", "start": 1960 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "ENST00000217086.8:c.1849C>T" ], "proteinEffect": { "hgvs": "ENSP00000217086.4:p.Arg617Ter", "hgvsWellDefined": "ENSP00000217086.4:p.Arg617_Ser1053delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248062" }, { "coordinates": [ { "allele": "T", "end": 231, "endIntronDirection": "-", "endIntronOffset": 1492, "referenceAllele": "C", "start": 231, "startIntronDirection": "-", "startIntronOffset": 1493 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "ENST00000371539.7:c.131-1493C>T" ], "proteinEffect": { "hgvs": "ENSP00000360594.3:n.131-1493C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS268633" }, { "coordinates": [ { "allele": "T", "end": 1217, "endIntronDirection": "+", "endIntronOffset": 699, "referenceAllele": "C", "start": 1217, "startIntronDirection": "+", "startIntronOffset": 698 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "ENST00000395997.3:c.1150+699C>T" ], "proteinEffect": { "hgvs": "ENSP00000379319.3:n.1150+699C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS277034" }, { "@id": "http://reg.genome.network/allele/PA252733", "coordinates": [ { "allele": "T", "end": 1950, "referenceAllele": "C", "start": 1949 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "NM_020436.3:c.1849C>T", "LRG_675t1:c.1849C>T" ], "proteinEffect": { "hgvs": "NP_065169.1:p.Arg617Ter", "hgvsWellDefined": "NP_065169.1:p.Arg617_Ser1053delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036404" }, { "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "C", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "XM_005260467.2:c.1543C>T" ], "proteinEffect": { "hgvs": "XP_005260524.1:p.Arg515Ter", "hgvsWellDefined": "XP_005260524.1:p.Arg515_Ser951delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062792" }, { "coordinates": [ { "allele": "T", "end": 4582, "referenceAllele": "C", "start": 4581 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "XM_006723834.2:c.1543C>T" ], "proteinEffect": { "hgvs": "XP_006723897.1:p.Arg515Ter", "hgvsWellDefined": "XP_006723897.1:p.Arg515_Ser951delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS075222" }, { "coordinates": [ { "allele": "T", "end": 1859, "referenceAllele": "C", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "XM_011528919.1:c.1723C>T" ], "proteinEffect": { "hgvs": "XP_011527221.1:p.Arg575Ter", "hgvsWellDefined": "XP_011527221.1:p.Arg575_Ser1011delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095990" }, { "coordinates": [ { "allele": "T", "end": 2057, "referenceAllele": "C", "start": 2056 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "XM_011528920.1:c.1543C>T" ], "proteinEffect": { "hgvs": "XP_011527222.1:p.Arg515Ter", "hgvsWellDefined": "XP_011527222.1:p.Arg515_Ser951delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095991" }, { "coordinates": [ { "allele": "T", "end": 2131, "referenceAllele": "C", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "XM_011528921.1:c.1543C>T" ], "proteinEffect": { "hgvs": "XP_011527223.1:p.Arg515Ter", "hgvsWellDefined": "XP_011527223.1:p.Arg515_Ser951delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095992" }, { "coordinates": [ { "allele": "T", "end": 2099, "referenceAllele": "C", "start": 2098 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "XM_011528922.1:c.1543C>T" ], "proteinEffect": { "hgvs": "XP_011527224.1:p.Arg515Ter", "hgvsWellDefined": "XP_011527224.1:p.Arg515_Ser951delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS095993" }, { "coordinates": [ { "allele": "T", "end": 1262, "endIntronDirection": "+", "endIntronOffset": 699, "referenceAllele": "C", "start": 1262, "startIntronDirection": "+", "startIntronOffset": 698 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "XM_011528923.1:c.1150+699C>T" ], "proteinEffect": { "hgvs": "XP_011527225.1:n.1150+699C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS095994" }, { "coordinates": [ { "allele": "T", "end": 1265, "endIntronDirection": "+", "endIntronOffset": 699, "referenceAllele": "C", "start": 1265, "startIntronDirection": "+", "startIntronOffset": 698 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "NM_001318031.1:c.1150+699C>T" ], "proteinEffect": { "hgvs": "NP_001304960.1:n.1150+699C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS512680" }, { "@id": "http://reg.genome.network/allele/PA252733", "coordinates": [ { "allele": "T", "end": 1964, "referenceAllele": "C", "start": 1963 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "NM_020436.4:c.1849C>T" ], "proteinEffect": { "hgvs": "NP_065169.1:p.Arg617Ter", "hgvsWellDefined": "NP_065169.1:p.Arg617_Ser1053delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525973" }, { "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "C", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "XM_005260467.4:c.1543C>T" ], "proteinEffect": { "hgvs": "XP_005260524.1:p.Arg515Ter", "hgvsWellDefined": "XP_005260524.1:p.Arg515_Ser951delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535187" }, { "coordinates": [ { "allele": "T", "end": 2140, "referenceAllele": "C", "start": 2139 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "XM_011528921.2:c.1543C>T" ], "proteinEffect": { "hgvs": "XP_011527223.1:p.Arg515Ter", "hgvsWellDefined": "XP_011527223.1:p.Arg515_Ser951delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549304" }, { "coordinates": [ { "allele": "T", "end": 2099, "referenceAllele": "C", "start": 2098 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "XM_011528922.2:c.1543C>T" ], "proteinEffect": { "hgvs": "XP_011527224.1:p.Arg515Ter", "hgvsWellDefined": "XP_011527224.1:p.Arg515_Ser951delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS549305" }, { "@id": "http://reg.genome.network/allele/PA252733", "coordinates": [ { "allele": "T", "end": 1962, "referenceAllele": "C", "start": 1961 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "NM_020436.5:c.1849C>T" ], "proteinEffect": { "hgvs": "NP_065169.1:p.Arg617Ter", "hgvsWellDefined": "NP_065169.1:p.Arg617_Ser1053delinsThrAsnThrSerIleLysThrGlnHisSerCysProIleCysGlnLysLysPheThrAsnAlaValMetLeuGlnGlnHisIleArgMetHisMetGlyGlyGlnIleProAsnThrProLeuProGluAsnProCysAspPheThrGlySerGluProMetThrValGlyGluAsnGlySerThrGlyAlaIleCysHisAspAspValIleGluSerIleAspValGluGluValSerSerGlnGluAlaProSerSerSerSerLysValProThrProLeuProSerIleHisSerAlaSerProThrLeuGlyPheAlaMetMetAlaSerLeuAspAlaProGlyLysValGlyProAlaProPheAsnLeuGlnArgGlnGlySerArgGluAsnGlySerValGluSerAspGlyLeuThrAsnAspSerSerSerLeuMetGlyAspGlnGluTyrGlnSerArgSerProAspIleLeuGluThrThrSerPheGlnAlaLeuSerProAlaAsnSerGlnAlaGluSerIleLysSerLysSerProAspAlaGlySerLysAlaGluSerSerGluAsnSerArgThrGluMetGluGlyArgSerSerLeuProSerThrPheIleArgAlaProProThrTyrValLysValGluValProGlyThrPheValGlyProSerThrLeuSerProGlyMetThrProLeuLeuAlaAlaGlnProArgArgGlnAlaLysGlnHisGlyCysThrArgCysGlyLysAsnPheSerSerAlaSerAlaLeuGlnIleHisGluArgThrHisThrGlyGluLysProPheValCysAsnIleCysGlyArgAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670010", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000217086.9:c.1849C>T" }, "RefSeq": { "hgvs": "NM_020436.5:c.1849C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000217086.4:p.Arg617Ter" }, "RefSeq": { "hgvs": "NP_065169.1:p.Arg617Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1263, "endIntronDirection": "+", "endIntronOffset": 699, "referenceAllele": "C", "start": 1263, "startIntronDirection": "+", "startIntronOffset": 698 } ], "gene": "http://reg.genome.network/gene/GN015924", "geneNCBI_id": 57167, "geneSymbol": "SALL4", "hgvs": [ "NM_001318031.2:c.1150+699C>T" ], "proteinEffect": { "hgvs": "NP_001304960.1:n.1150+699C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS684400" } ], "type": "nucleotide" }