{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16618523", "communityStandardTitle": [ "NM_000535.7(PMS2):c.756_757del (p.Cys252Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407210[alleleid]", "alleleId": 407210, "preferredName": "NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421093", "RCV": [ "RCV000481690", "RCV001026570", "RCV001851199", "RCV003147481" ], "variationId": 421093 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.6037003_6037004del?assembly=hg19", "id": "chr7:g.6037003_6037004del" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.5997372_5997373del?assembly=hg38", "id": "chr7:g.5997372_5997373del" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064794905", "rs": 1064794905 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-5997371-TCA-T?dataset=gnomad_r3", "id": "7-5997371-TCA-T", "variant": "7:5997371 TCA / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-5997371-TCA-T?dataset=gnomad_r4", "id": "7-5997371-TCA-T", "variant": "7:5997371 TCA / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "", "end": 5997378, "referenceAllele": "AC", "start": 5997376 } ], "hgvs": [ "NC_000007.14:g.5997377_5997378del", "CM000669.2:g.5997377_5997378del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "", "end": 6037009, "referenceAllele": "AC", "start": 6037007 } ], "hgvs": [ "NC_000007.13:g.6037008_6037009del", "CM000669.1:g.6037008_6037009del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "", "end": 6003535, "referenceAllele": "AC", "start": 6003533 } ], "hgvs": [ "NC_000007.12:g.6003534_6003535del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "", "end": 16735, "referenceAllele": "GT", "start": 16733 } ], "hgvs": [ "NG_008466.1:g.16734_16735del", "LRG_161:g.16734_16735del" ], "referenceSequence": "http://reg.genome.network/refseq/RS001109" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 632, "endIntronDirection": "+", "endIntronOffset": 1736, "referenceAllele": "GT", "start": 632, "startIntronDirection": "+", "startIntronOffset": 1734 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699814.2:c.*299+1735_*299+1736del" ], "proteinEffect": { "hgvs": "ENSP00000514615.2:n.*299+1735_*299+1736del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914474" }, { "coordinates": [ { "allele": "", "end": 822, "referenceAllele": "GT", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699840.2:c.753_754del" ], "proteinEffect": { "hgvs": "ENSP00000514638.2:p.Cys251Ter", "hgvsWellDefined": "ENSP00000514638.2:p.Cys251_Arg281del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914475" }, { "coordinates": [ { "allele": "", "end": 729, "referenceAllele": "GT", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699930.2:c.648_649del" ], "proteinEffect": { "hgvs": "ENSP00000514695.2:p.Cys216Ter", "hgvsWellDefined": "ENSP00000514695.2:p.Cys216_Arg246del" }, "referenceSequence": "http://reg.genome.network/refseq/RS914476" }, { "coordinates": [ { "allele": "", "end": 757, "referenceAllele": "GT", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000406569.8:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000514464.1:p.Cys252Ter", "hgvsWellDefined": "ENSP00000514464.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS904664" }, { "coordinates": [ { "allele": "", "end": 677, "referenceAllele": "GT", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000644110.2:c.*350_*351del" ], "proteinEffect": { "hgvs": "ENSP00000496392.2:n.*350_*351del" }, "referenceSequence": "http://reg.genome.network/refseq/RS906425" }, { "coordinates": [ { "allele": "", "end": 787, "referenceAllele": "GT", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699752.1:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000514561.1:p.Cys252Ter", "hgvsWellDefined": "ENSP00000514561.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910625" }, { "coordinates": [ { "allele": "", "end": 742, "referenceAllele": "GT", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699753.1:c.*155_*156del" ], "proteinEffect": { "hgvs": "ENSP00000514562.1:n.*155_*156del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910626" }, { "coordinates": [ { "allele": "", "end": 750, "endIntronDirection": "+", "endIntronOffset": 1736, "referenceAllele": "GT", "start": 750, "startIntronDirection": "+", "startIntronOffset": 1734 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699754.1:c.705+1735_705+1736del" ], "proteinEffect": { "hgvs": "ENSP00000514563.1:n.705+1735_705+1736del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910627" }, { "coordinates": [ { "allele": "", "end": 757, "referenceAllele": "GT", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699755.1:c.*155_*156del" ], "proteinEffect": { "hgvs": "ENSP00000514564.1:n.*155_*156del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910628" }, { "coordinates": [ { "allele": "", "end": 758, "referenceAllele": "GT", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699756.1:c.*343_*344del" ], "proteinEffect": { "hgvs": "ENSP00000514565.1:n.*343_*344del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910629" }, { "coordinates": [ { "allele": "", "end": 481, "referenceAllele": "GT", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699757.1:c.*13_*14del" ], "proteinEffect": { "hgvs": "ENSP00000514566.1:n.*13_*14del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910630" }, { "coordinates": [ { "allele": "", "end": 535, "referenceAllele": "GT", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699758.1:c.*13_*14del" ], "proteinEffect": { "hgvs": "ENSP00000514567.1:n.*13_*14del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910631" }, { "coordinates": [ { "allele": "", "end": 829, "referenceAllele": "GT", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699759.1:n.828_829del" ], "referenceSequence": "http://reg.genome.network/refseq/RS910632" }, { "coordinates": [ { "allele": "", "end": 591, "referenceAllele": "GT", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699760.1:c.438_439del" ], "proteinEffect": { "hgvs": "ENSP00000514568.1:p.Cys146Ter", "hgvsWellDefined": "ENSP00000514568.1:p.Cys146_Arg176del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910633" }, { "coordinates": [ { "allele": "", "end": 777, "referenceAllele": "GT", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699761.1:c.351_352del" ], "proteinEffect": { "hgvs": "ENSP00000514569.1:p.Cys117Ter", "hgvsWellDefined": "ENSP00000514569.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910634" }, { "coordinates": [ { "allele": "", "end": 664, "referenceAllele": "GT", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699762.1:c.183_184del" ], "proteinEffect": { "hgvs": "ENSP00000514570.1:p.Cys61Ter", "hgvsWellDefined": "ENSP00000514570.1:p.Cys61_Arg91del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910635" }, { "coordinates": [ { "allele": "", "end": 832, "referenceAllele": "GT", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699763.1:c.351_352del" ], "proteinEffect": { "hgvs": "ENSP00000514571.1:p.Cys117Ter", "hgvsWellDefined": "ENSP00000514571.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910636" }, { "coordinates": [ { "allele": "", "end": 811, "referenceAllele": "GT", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699764.1:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000514572.1:p.Cys252Ter", "hgvsWellDefined": "ENSP00000514572.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910637" }, { "coordinates": [ { "allele": "", "end": 714, "referenceAllele": "GT", "start": 712 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699765.1:c.438_439del" ], "proteinEffect": { "hgvs": "ENSP00000514573.1:p.Cys146Ter", "hgvsWellDefined": "ENSP00000514573.1:p.Cys146Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS910638" }, { "coordinates": [ { "allele": "", "end": 860, "referenceAllele": "GT", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699766.1:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000514574.1:p.Cys252Ter", "hgvsWellDefined": "ENSP00000514574.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910639" }, { "coordinates": [ { "allele": "", "end": 860, "referenceAllele": "GT", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699767.1:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000514575.1:p.Cys252Ter", "hgvsWellDefined": "ENSP00000514575.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910640" }, { "coordinates": [ { "allele": "", "end": 860, "referenceAllele": "GT", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699768.1:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000514576.1:p.Cys252Ter", "hgvsWellDefined": "ENSP00000514576.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910641" }, { "coordinates": [ { "allele": "", "end": 957, "referenceAllele": "GT", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699811.1:c.351_352del" ], "proteinEffect": { "hgvs": "ENSP00000514614.1:p.Cys117Ter", "hgvsWellDefined": "ENSP00000514614.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910684" }, { "coordinates": [ { "allele": "", "end": 870, "referenceAllele": "GT", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699813.1:n.869_870del" ], "referenceSequence": "http://reg.genome.network/refseq/RS910685" }, { "coordinates": [ { "allele": "", "end": 526, "endIntronDirection": "+", "endIntronOffset": 1736, "referenceAllele": "GT", "start": 526, "startIntronDirection": "+", "startIntronOffset": 1734 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699814.1:c.526+1735_526+1736del" ], "referenceSequence": "http://reg.genome.network/refseq/RS910686" }, { "coordinates": [ { "allele": "", "end": 895, "referenceAllele": "GT", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699815.1:c.*257_*258del" ], "proteinEffect": { "hgvs": "ENSP00000514616.1:n.*257_*258del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910687" }, { "coordinates": [ { "allele": "", "end": 1085, "referenceAllele": "GT", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699816.1:c.351_352del" ], "proteinEffect": { "hgvs": "ENSP00000514617.1:p.Cys117Ter", "hgvsWellDefined": "ENSP00000514617.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910688" }, { "coordinates": [ { "allele": "", "end": 597, "referenceAllele": "GT", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699817.1:c.*350_*351del" ], "proteinEffect": { "hgvs": "ENSP00000514618.1:n.*350_*351del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910689" }, { "coordinates": [ { "allele": "", "end": 977, "referenceAllele": "GT", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699818.1:c.351_352del" ], "proteinEffect": { "hgvs": "ENSP00000514619.1:p.Cys117Ter", "hgvsWellDefined": "ENSP00000514619.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910690" }, { "coordinates": [ { "allele": "", "end": 928, "referenceAllele": "GT", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699819.1:c.*13_*14del" ], "proteinEffect": { "hgvs": "ENSP00000514620.1:n.*13_*14del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910691" }, { "coordinates": [ { "allele": "", "end": 868, "referenceAllele": "GT", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699820.1:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000514621.1:p.Cys252Ter", "hgvsWellDefined": "ENSP00000514621.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910692" }, { "coordinates": [ { "allele": "", "end": 838, "referenceAllele": "GT", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699821.1:c.351_352del" ], "proteinEffect": { "hgvs": "ENSP00000514622.1:p.Cys117Ter", "hgvsWellDefined": "ENSP00000514622.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910693" }, { "coordinates": [ { "allele": "", "end": 840, "referenceAllele": "GT", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699822.1:c.*208_*209del" ], "proteinEffect": { "hgvs": "ENSP00000514623.1:n.*208_*209del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910694" }, { "coordinates": [ { "allele": "", "end": 609, "referenceAllele": "GT", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699823.1:c.351_352del" ], "proteinEffect": { "hgvs": "ENSP00000514624.1:p.Cys117Ter", "hgvsWellDefined": "ENSP00000514624.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910695" }, { "coordinates": [ { "allele": "", "end": 929, "referenceAllele": "GT", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699824.1:c.*259_*260del" ], "proteinEffect": { "hgvs": "ENSP00000514625.1:n.*259_*260del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910696" }, { "coordinates": [ { "allele": "", "end": 808, "referenceAllele": "GT", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699825.1:c.351_352del" ], "proteinEffect": { "hgvs": "ENSP00000514626.1:p.Cys117Ter", "hgvsWellDefined": "ENSP00000514626.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910697" }, { "coordinates": [ { "allele": "", "end": 633, "referenceAllele": "GT", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699826.1:c.*155_*156del" ], "proteinEffect": { "hgvs": "ENSP00000514627.1:n.*155_*156del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910698" }, { "coordinates": [ { "allele": "", "end": 669, "referenceAllele": "GT", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699827.1:c.588_589del" ], "proteinEffect": { "hgvs": "ENSP00000514628.1:p.Cys196Ter", "hgvsWellDefined": "ENSP00000514628.1:p.Cys196_Arg226del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910699" }, { "coordinates": [ { "allele": "", "end": 862, "referenceAllele": "GT", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699828.1:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000514629.1:p.Cys252Ter", "hgvsWellDefined": "ENSP00000514629.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910700" }, { "coordinates": [ { "allele": "", "end": 847, "referenceAllele": "GT", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699829.1:c.*257_*258del" ], "proteinEffect": { "hgvs": "ENSP00000514630.1:n.*257_*258del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910701" }, { "coordinates": [ { "allele": "", "end": 811, "referenceAllele": "GT", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699830.1:c.*155_*156del" ], "proteinEffect": { "hgvs": "ENSP00000514631.1:n.*155_*156del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910702" }, { "coordinates": [ { "allele": "", "end": 669, "referenceAllele": "GT", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699831.1:n.668_669del" ], "referenceSequence": "http://reg.genome.network/refseq/RS910703" }, { "coordinates": [ { "allele": "", "end": 1040, "referenceAllele": "GT", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699832.1:n.1039_1040del" ], "referenceSequence": "http://reg.genome.network/refseq/RS910704" }, { "coordinates": [ { "allele": "", "end": 837, "referenceAllele": "GT", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699833.1:n.836_837del" ], "referenceSequence": "http://reg.genome.network/refseq/RS910705" }, { "coordinates": [ { "allele": "", "end": 694, "referenceAllele": "GT", "start": 692 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699837.1:c.351_352del" ], "proteinEffect": { "hgvs": "ENSP00000514635.1:p.Cys117Ter", "hgvsWellDefined": "ENSP00000514635.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910709" }, { "coordinates": [ { "allele": "", "end": 953, "referenceAllele": "GT", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699838.1:c.*656_*657del" ], "proteinEffect": { "hgvs": "ENSP00000514636.1:n.*656_*657del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910710" }, { "coordinates": [ { "allele": "", "end": 1008, "referenceAllele": "GT", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699839.1:c.942_943del" ], "proteinEffect": { "hgvs": "ENSP00000514637.1:p.Cys314Ter", "hgvsWellDefined": "ENSP00000514637.1:p.Cys314_Arg344del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910711" }, { "coordinates": [ { "allele": "", "end": 822, "referenceAllele": "GT", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699840.1:c.753_754del" ], "proteinEffect": { "hgvs": "ENSP00000514638.1:p.Cys251Ter", "hgvsWellDefined": "ENSP00000514638.1:p.Cys251_Arg281del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910712" }, { "coordinates": [ { "allele": "", "end": 752, "referenceAllele": "GT", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699916.1:c.*13_*14del" ], "proteinEffect": { "hgvs": "ENSP00000514684.1:n.*13_*14del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910788" }, { "coordinates": [ { "allele": "", "end": 910, "referenceAllele": "GT", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699917.1:c.*205_*206del" ], "proteinEffect": { "hgvs": "ENSP00000514685.1:n.*205_*206del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910789" }, { "coordinates": [ { "allele": "", "end": 962, "referenceAllele": "GT", "start": 960 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699918.1:c.*257_*258del" ], "proteinEffect": { "hgvs": "ENSP00000514686.1:n.*257_*258del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910790" }, { "coordinates": [ { "allele": "", "end": 1048, "referenceAllele": "GT", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699919.1:c.*343_*344del" ], "proteinEffect": { "hgvs": "ENSP00000514687.1:n.*343_*344del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910791" }, { "coordinates": [ { "allele": "", "end": 1097, "referenceAllele": "GT", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699920.1:c.*392_*393del" ], "proteinEffect": { "hgvs": "ENSP00000514688.1:n.*392_*393del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910792" }, { "coordinates": [ { "allele": "", "end": 868, "referenceAllele": "GT", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699928.1:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000514693.1:p.Cys252Ter", "hgvsWellDefined": "ENSP00000514693.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910800" }, { "coordinates": [ { "allele": "", "end": 736, "endIntronDirection": "+", "endIntronOffset": 1736, "referenceAllele": "GT", "start": 736, "startIntronDirection": "+", "startIntronOffset": 1734 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699929.1:c.*104+1735_*104+1736del" ], "proteinEffect": { "hgvs": "ENSP00000514694.1:n.*104+1735_*104+1736del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910801" }, { "coordinates": [ { "allele": "", "end": 729, "referenceAllele": "GT", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699930.1:c.648_649del" ], "proteinEffect": { "hgvs": "ENSP00000514695.1:p.Cys216Ter", "hgvsWellDefined": "ENSP00000514695.1:p.Cys216_Arg246del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910802" }, { "coordinates": [ { "allele": "", "end": 868, "referenceAllele": "GT", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699931.1:n.867_868del" ], "referenceSequence": "http://reg.genome.network/refseq/RS910803" }, { "coordinates": [ { "allele": "", "end": 837, "referenceAllele": "GT", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699932.1:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000514696.1:p.Cys252Ter", "hgvsWellDefined": "ENSP00000514696.1:p.Cys252Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS910804" }, { "coordinates": [ { "allele": "", "end": 837, "referenceAllele": "GT", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699933.1:n.836_837del" ], "referenceSequence": "http://reg.genome.network/refseq/RS910805" }, { "coordinates": [ { "allele": "", "end": 837, "referenceAllele": "GT", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699951.1:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000514706.1:p.Cys252Ter", "hgvsWellDefined": "ENSP00000514706.1:p.Cys252Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS910822" }, { "coordinates": [ { "allele": "", "end": 837, "referenceAllele": "GT", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699952.1:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000514707.1:p.Cys252Ter", "hgvsWellDefined": "ENSP00000514707.1:p.Cys252Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS910823" }, { "coordinates": [ { "allele": "", "end": 785, "endIntronDirection": "+", "endIntronOffset": 1736, "referenceAllele": "GT", "start": 785, "startIntronDirection": "+", "startIntronOffset": 1734 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699953.1:c.705+1735_705+1736del" ], "proteinEffect": { "hgvs": "ENSP00000514708.1:n.705+1735_705+1736del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910824" }, { "coordinates": [ { "allele": "", "end": 733, "endIntronDirection": "+", "endIntronOffset": 1736, "referenceAllele": "GT", "start": 733, "startIntronDirection": "+", "startIntronOffset": 1734 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699954.1:c.*104+1735_*104+1736del" ], "proteinEffect": { "hgvs": "ENSP00000514709.1:n.*104+1735_*104+1736del" }, "referenceSequence": "http://reg.genome.network/refseq/RS910825" }, { "coordinates": [ { "allele": "", "end": 787, "referenceAllele": "GT", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000265849.12:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000265849.7:p.Cys252Ter", "hgvsWellDefined": "ENSP00000265849.7:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS742894", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265849.12:c.756_757del" }, "RefSeq": { "hgvs": "NM_000535.7:c.756_757del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265849.7:p.Cys252Ter" }, "RefSeq": { "hgvs": "NP_000526.2:p.Cys252Ter" } } } }, { "coordinates": [ { "allele": "", "end": 695, "referenceAllele": "GT", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000642292.1:c.351_352del" ], "proteinEffect": { "hgvs": "ENSP00000495524.1:p.Cys117Ter", "hgvsWellDefined": "ENSP00000495524.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS766664" }, { "coordinates": [ { "allele": "", "end": 808, "referenceAllele": "GT", "start": 806 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000642456.1:c.351_352del" ], "proteinEffect": { "hgvs": "ENSP00000493814.1:p.Cys117Ter", "hgvsWellDefined": "ENSP00000493814.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS766755" }, { "coordinates": [ { "allele": "", "end": 730, "referenceAllele": "GT", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000643595.1:c.*155_*156del" ], "proteinEffect": { "hgvs": "ENSP00000494497.1:n.*155_*156del" }, "referenceSequence": "http://reg.genome.network/refseq/RS767363" }, { "coordinates": [ { "allele": "", "end": 439, "referenceAllele": "GT", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000644110.1:c.438_439del" ], "proteinEffect": { "hgvs": "ENSP00000496392.1:p.Cys146Ter", "hgvsWellDefined": "ENSP00000496392.1:p.Cys146_Arg176del" }, "referenceSequence": "http://reg.genome.network/refseq/RS767638" }, { "coordinates": [ { "allele": "", "end": 863, "referenceAllele": "GT", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000265849.11:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000265849.7:p.Cys252Ter", "hgvsWellDefined": "ENSP00000265849.7:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS246729" }, { "coordinates": [ { "allele": "", "end": 757, "referenceAllele": "GT", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000382321.5:c.756_757del" ], "proteinEffect": { "hgvs": "ENSP00000371758.4:p.Cys252Ter", "hgvsWellDefined": "ENSP00000371758.4:p.Cys252_Asn282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247172" }, { "coordinates": [ { "allele": "", "end": 757, "referenceAllele": "GT", "start": 755 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000406569.7:n.756_757del" ], "referenceSequence": "http://reg.genome.network/refseq/RS280678" }, { "coordinates": [ { "allele": "", "end": 741, "referenceAllele": "GT", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000441476.6:c.438_439del" ], "proteinEffect": { "hgvs": "ENSP00000392843.2:p.Cys146Ter", "hgvsWellDefined": "ENSP00000392843.2:p.Cys146_Arg176del" }, "referenceSequence": "http://reg.genome.network/refseq/RS247356" }, { "coordinates": [ { "allele": "", "end": 62, "endIntronDirection": "+", "endIntronOffset": 8621, "referenceAllele": "GT", "start": 62, "startIntronDirection": "+", "startIntronOffset": 8619 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000469652.1:n.62+8620_62+8621del" ], "referenceSequence": "http://reg.genome.network/refseq/RS312285" }, { "coordinates": [ { "allele": "", "end": 844, "referenceAllele": "GT", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.5:c.756_757del", "LRG_161t1:c.756_757del" ], "proteinEffect": { "hgvs": "NP_000526.1:p.Cys252Ter", "hgvsWellDefined": "NP_000526.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS006593" }, { "coordinates": [ { "allele": "", "end": 839, "referenceAllele": "GT", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NR_003085.2:n.838_839del" ], "referenceSequence": "http://reg.genome.network/refseq/RS046147" }, { "coordinates": [ { "allele": "", "end": 794, "referenceAllele": "GT", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715742.2:c.750_751del" ], "proteinEffect": { "hgvs": "XP_006715805.1:p.Cys250Ter", "hgvsWellDefined": "XP_006715805.1:p.Cys250_Arg280del" }, "referenceSequence": "http://reg.genome.network/refseq/RS071329" }, { "coordinates": [ { "allele": "", "end": 817, "referenceAllele": "GT", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515427.1:c.801_802del" ], "proteinEffect": { "hgvs": "XP_011513729.1:p.Cys267Ter", "hgvsWellDefined": "XP_011513729.1:p.Cys267_Arg297del" }, "referenceSequence": "http://reg.genome.network/refseq/RS082647" }, { "coordinates": [ { "allele": "", "end": 817, "referenceAllele": "GT", "start": 815 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515428.1:c.801_802del" ], "proteinEffect": { "hgvs": "XP_011513730.1:p.Cys267Ter", "hgvsWellDefined": "XP_011513730.1:p.Cys267_Arg297del" }, "referenceSequence": "http://reg.genome.network/refseq/RS082648" }, { "coordinates": [ { "allele": "", "end": 741, "referenceAllele": "GT", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515429.1:c.438_439del" ], "proteinEffect": { "hgvs": "XP_011513731.1:p.Cys146Ter", "hgvsWellDefined": "XP_011513731.1:p.Cys146_Arg176del" }, "referenceSequence": "http://reg.genome.network/refseq/RS082649" }, { "coordinates": [ { "allele": "", "end": 715, "referenceAllele": "GT", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515430.1:c.438_439del" ], "proteinEffect": { "hgvs": "XP_011513732.1:p.Cys146Ter", "hgvsWellDefined": "XP_011513732.1:p.Cys146_Arg176del" }, "referenceSequence": "http://reg.genome.network/refseq/RS082650" }, { "@id": "http://reg.genome.network/allele/PA2825190528", "coordinates": [ { "allele": "", "end": 844, "referenceAllele": "GT", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.6:c.756_757del" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Cys252Ter", "hgvsWellDefined": "NP_000526.2:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS510810" }, { "@id": "http://reg.genome.network/allele/PA2827097855", "coordinates": [ { "allele": "", "end": 839, "referenceAllele": "GT", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.1:c.351_352del" ], "proteinEffect": { "hgvs": "NP_001308932.1:p.Cys117Ter", "hgvsWellDefined": "NP_001308932.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS514675" }, { "@id": "http://reg.genome.network/allele/PA2827104257", "coordinates": [ { "allele": "", "end": 704, "referenceAllele": "GT", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.1:c.351_352del" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Cys117Ter", "hgvsWellDefined": "NP_001308933.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS514676" }, { "@id": "http://reg.genome.network/allele/PA2827111536", "coordinates": [ { "allele": "", "end": 956, "referenceAllele": "GT", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.1:c.351_352del" ], "proteinEffect": { "hgvs": "NP_001308934.1:p.Cys117Ter", "hgvsWellDefined": "NP_001308934.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS514677" }, { "@id": "http://reg.genome.network/allele/PA2827114904", "coordinates": [ { "allele": "", "end": 844, "referenceAllele": "GT", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.1:c.756_757del" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Cys252Ter", "hgvsWellDefined": "NP_001308935.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS514678" }, { "@id": "http://reg.genome.network/allele/PA2827117642", "coordinates": [ { "allele": "", "end": 741, "referenceAllele": "GT", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.1:c.438_439del" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Cys146Ter", "hgvsWellDefined": "NP_001308936.1:p.Cys146_Arg176del" }, "referenceSequence": "http://reg.genome.network/refseq/RS514679" }, { "@id": "http://reg.genome.network/allele/PA2827120143", "coordinates": [ { "allele": "", "end": 601, "referenceAllele": "GT", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.1:c.438_439del" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Cys146Ter", "hgvsWellDefined": "NP_001308937.1:p.Cys146_Arg176del" }, "referenceSequence": "http://reg.genome.network/refseq/RS514680" }, { "@id": "http://reg.genome.network/allele/PA2827122513", "coordinates": [ { "allele": "", "end": 951, "referenceAllele": "GT", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.1:c.351_352del" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Cys117Ter", "hgvsWellDefined": "NP_001308938.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS514681" }, { "@id": "http://reg.genome.network/allele/PA2827126148", "coordinates": [ { "allele": "", "end": 704, "referenceAllele": "GT", "start": 702 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.1:c.351_352del" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Cys117Ter", "hgvsWellDefined": "NP_001308939.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS514682" }, { "coordinates": [ { "allele": "", "end": 795, "referenceAllele": "GT", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.1:c.-178_-177del" ], "proteinEffect": { "hgvs": "NP_001308940.1:n.-178_-177del" }, "referenceSequence": "http://reg.genome.network/refseq/RS514683" }, { "coordinates": [ { "allele": "", "end": 790, "referenceAllele": "GT", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.1:c.-178_-177del" ], "proteinEffect": { "hgvs": "NP_001308941.1:n.-178_-177del" }, "referenceSequence": "http://reg.genome.network/refseq/RS514684" }, { "@id": "http://reg.genome.network/allele/PA1139698325", "coordinates": [ { "allele": "", "end": 671, "referenceAllele": "GT", "start": 669 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.1:c.183_184del" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Cys61Ter", "hgvsWellDefined": "NP_001308942.1:p.Cys61_Arg91del" }, "referenceSequence": "http://reg.genome.network/refseq/RS514685" }, { "@id": "http://reg.genome.network/allele/PA2827135498", "coordinates": [ { "allele": "", "end": 844, "referenceAllele": "GT", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.1:c.756_757del" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Cys252Ter", "hgvsWellDefined": "NP_001308943.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS514686" }, { "@id": "http://reg.genome.network/allele/PA2827137191", "coordinates": [ { "allele": "", "end": 1014, "referenceAllele": "GT", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.1:c.447_448del" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Cys149Ter", "hgvsWellDefined": "NP_001308944.1:p.Cys149_Arg179del" }, "referenceSequence": "http://reg.genome.network/refseq/RS514687" }, { "coordinates": [ { "allele": "", "end": 844, "referenceAllele": "GT", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NR_136154.1:n.843_844del" ], "referenceSequence": "http://reg.genome.network/refseq/RS528598" }, { "coordinates": [ { "allele": "", "end": 769, "referenceAllele": "GT", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_017012342.2:c.-78_-77del" ], "proteinEffect": { "hgvs": "XP_016867831.1:n.-78_-77del" }, "referenceSequence": "http://reg.genome.network/refseq/RS565972" }, { "coordinates": [ { "allele": "", "end": 829, "referenceAllele": "GT", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_024446800.1:c.351_352del" ], "proteinEffect": { "hgvs": "XP_024302568.1:p.Cys117Ter", "hgvsWellDefined": "XP_024302568.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS580450" }, { "@id": "http://reg.genome.network/allele/PA2825190528", "coordinates": [ { "allele": "", "end": 787, "referenceAllele": "GT", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.7:c.756_757del" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Cys252Ter", "hgvsWellDefined": "NP_000526.2:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS662478", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265849.12:c.756_757del" }, "RefSeq": { "hgvs": "NM_000535.7:c.756_757del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265849.7:p.Cys252Ter" }, "RefSeq": { "hgvs": "NP_000526.2:p.Cys252Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827097855", "coordinates": [ { "allele": "", "end": 782, "referenceAllele": "GT", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.2:c.351_352del" ], "proteinEffect": { "hgvs": "NP_001308932.1:p.Cys117Ter", "hgvsWellDefined": "NP_001308932.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS685612" }, { "@id": "http://reg.genome.network/allele/PA2827104257", "coordinates": [ { "allele": "", "end": 647, "referenceAllele": "GT", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.2:c.351_352del" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Cys117Ter", "hgvsWellDefined": "NP_001308933.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS685613" }, { "@id": "http://reg.genome.network/allele/PA2827111536", "coordinates": [ { "allele": "", "end": 977, "referenceAllele": "GT", "start": 975 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.2:c.351_352del" ], "proteinEffect": { "hgvs": "NP_001308934.1:p.Cys117Ter", "hgvsWellDefined": "NP_001308934.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS685614" }, { "@id": "http://reg.genome.network/allele/PA2827114904", "coordinates": [ { "allele": "", "end": 787, "referenceAllele": "GT", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.2:c.756_757del" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Cys252Ter", "hgvsWellDefined": "NP_001308935.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS685615" }, { "@id": "http://reg.genome.network/allele/PA2827120143", "coordinates": [ { "allele": "", "end": 544, "referenceAllele": "GT", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.2:c.438_439del" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Cys146Ter", "hgvsWellDefined": "NP_001308937.1:p.Cys146_Arg176del" }, "referenceSequence": "http://reg.genome.network/refseq/RS685616" }, { "@id": "http://reg.genome.network/allele/PA2827122513", "coordinates": [ { "allele": "", "end": 972, "referenceAllele": "GT", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.2:c.351_352del" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Cys117Ter", "hgvsWellDefined": "NP_001308938.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS685617" }, { "@id": "http://reg.genome.network/allele/PA2827126148", "coordinates": [ { "allele": "", "end": 647, "referenceAllele": "GT", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.2:c.351_352del" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Cys117Ter", "hgvsWellDefined": "NP_001308939.1:p.Cys117_Arg147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS685618" }, { "coordinates": [ { "allele": "", "end": 738, "referenceAllele": "GT", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.2:c.-178_-177del" ], "proteinEffect": { "hgvs": "NP_001308940.1:n.-178_-177del" }, "referenceSequence": "http://reg.genome.network/refseq/RS685619" }, { "coordinates": [ { "allele": "", "end": 733, "referenceAllele": "GT", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.2:c.-178_-177del" ], "proteinEffect": { "hgvs": "NP_001308941.1:n.-178_-177del" }, "referenceSequence": "http://reg.genome.network/refseq/RS685620" }, { "@id": "http://reg.genome.network/allele/PA1139698325", "coordinates": [ { "allele": "", "end": 614, "referenceAllele": "GT", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.2:c.183_184del" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Cys61Ter", "hgvsWellDefined": "NP_001308942.1:p.Cys61_Arg91del" }, "referenceSequence": "http://reg.genome.network/refseq/RS685621" }, { "@id": "http://reg.genome.network/allele/PA2827135498", "coordinates": [ { "allele": "", "end": 787, "referenceAllele": "GT", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.2:c.756_757del" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Cys252Ter", "hgvsWellDefined": "NP_001308943.1:p.Cys252_Arg282del" }, "referenceSequence": "http://reg.genome.network/refseq/RS685622" }, { "@id": "http://reg.genome.network/allele/PA2827137191", "coordinates": [ { "allele": "", "end": 957, "referenceAllele": "GT", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.2:c.447_448del" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Cys149Ter", "hgvsWellDefined": "NP_001308944.1:p.Cys149_Arg179del" }, "referenceSequence": "http://reg.genome.network/refseq/RS685623" }, { "@id": "http://reg.genome.network/allele/PA2827117642", "coordinates": [ { "allele": "", "end": 684, "referenceAllele": "GT", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.2:c.438_439del" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Cys146Ter", "hgvsWellDefined": "NP_001308936.1:p.Cys146_Arg176del" }, "referenceSequence": "http://reg.genome.network/refseq/RS718053" } ], "type": "nucleotide" }