{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16040759", "communityStandardTitle": [ "NM_017739.4(POMGNT1):c.60_63delinsGTGA (p.Ser20ArgfsTer2)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357112[alleleid]", "alleleId": 357112, "preferredName": "NM_017739.4(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370426", "RCV": [ "RCV000410976" ], "variationId": 370426 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.46663431_46663434delinsTCAC?assembly=hg19", "id": "chr1:g.46663431_46663434delinsTCAC" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.46197759_46197762delinsTCAC?assembly=hg38", "id": "chr1:g.46197759_46197762delinsTCAC" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516478", "rs": 1057516478 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "TCAC", "end": 46197762, "referenceAllele": "CCAG", "start": 46197758 } ], "hgvs": [ "NC_000001.11:g.46197759_46197762delinsTCAC", "CM000663.2:g.46197759_46197762delinsTCAC" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "TCAC", "end": 46663434, "referenceAllele": "CCAG", "start": 46663430 } ], "hgvs": [ "NC_000001.10:g.46663431_46663434delinsTCAC", "CM000663.1:g.46663431_46663434delinsTCAC" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "TCAC", "end": 46436021, "referenceAllele": "CCAG", "start": 46436017 } ], "hgvs": [ "NC_000001.9:g.46436018_46436021delinsTCAC" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "GTGA", "end": 27547, "referenceAllele": "CTGG", "start": 27543 } ], "hgvs": [ "NG_009205.2:g.27544_27547delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS001478" }, { "coordinates": [ { "allele": "GTGA", "end": 27547, "referenceAllele": "CTGG", "start": 27543 } ], "hgvs": [ "NG_009205.3:g.27544_27547delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS733322" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "GTGA", "end": 197, "referenceAllele": "CTGG", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000396420.8:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000379698.4:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000379698.4:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer;Ala34_Thr660delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS824502" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000477114.2:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS825276" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000497439.6:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS825477" }, { "coordinates": [ { "allele": "GTGA", "end": 231, "referenceAllele": "CTGG", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000684817.1:n.228_231delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS829746" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000684898.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS829782" }, { "coordinates": [ { "allele": "GTGA", "end": 231, "referenceAllele": "CTGG", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000685230.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000510305.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000510305.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysValLeuSerSerGlyArgAsnIleLeuAsnHisLeuProSerLeuProGlyGlyThrGlnSerCysTer;Ala34_Cys200delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysValLeuSerSerGlyArgAsnIleLeuAsnHisLeuProSerLeuProGlyGlyThrGlnSerCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS829954" }, { "coordinates": [ { "allele": "GTGA", "end": 220, "referenceAllele": "CTGG", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000685275.1:n.217_220delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS829980" }, { "coordinates": [ { "allele": "GTGA", "end": 231, "referenceAllele": "CTGG", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000685444.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000510762.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000510762.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer;Ala34_Thr627delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830080" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000685704.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS830210" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000685775.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS830243" }, { "coordinates": [ { "allele": "GTGA", "end": 208, "referenceAllele": "CTGG", "start": 204 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000685833.1:n.205_208delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS830271" }, { "coordinates": [ { "allele": "GTGA", "end": 364, "referenceAllele": "CTGG", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000686252.1:n.361_364delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS830482" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000686379.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000508913.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000508913.1:p.Ser20_Tyr316delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830541" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000686724.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS830713" }, { "coordinates": [ { "allele": "GTGA", "end": 265, "referenceAllele": "CTGG", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000686737.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000508736.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000508736.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer;Ala34_Thr660delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830718" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000687112.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS830915" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000687149.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000509745.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000509745.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisProCysGlyTyrArgPheProCysAspProLeuProCysSerValLeuProMetGlyProGluGlyLeuProThrProLeuThrHisPheSerLeuLeuPheSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer;Ala34_Thr673delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisProCysGlyTyrArgPheProCysAspProLeuProCysSerValLeuProMetGlyProGluGlyLeuProThrProLeuThrHisPheSerLeuLeuPheSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830933" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000687197.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000510749.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000510749.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgAsnProTrpMetTrpTrpHisCysLeuValTer;Ala34_Val327delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgAsnProTrpMetTrpTrpHisCysLeuValTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS830963" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000687235.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS830990" }, { "coordinates": [ { "allele": "GTGA", "end": 231, "referenceAllele": "CTGG", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000687613.1:n.228_231delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS831174" }, { "coordinates": [ { "allele": "GTGA", "end": 364, "referenceAllele": "CTGG", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000687683.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000508522.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000508522.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer;Ala34_Thr660delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS831212" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000688032.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS831400" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000688596.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS831713" }, { "coordinates": [ { "allele": "GTGA", "end": 289, "referenceAllele": "CTGG", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000688608.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000508890.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000508890.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer;Ala34_Thr627delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS831721" }, { "coordinates": [ { "allele": "GTGA", "end": 216, "referenceAllele": "CTGG", "start": 212 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000688919.1:n.213_216delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS831891" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000689031.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS831950" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000689717.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS832324" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000689756.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000509023.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000509023.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrGlyAlaGlyGlyTer;Ala34_Gly82delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrGlyAlaGlyGlyTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS832344" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000690377.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS832669" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000690678.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000508703.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000508703.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer;Ala34_Thr660delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS832822" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000691209.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000510112.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000510112.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgAsnProTrpMetTrpTrpHisCysLeuValTer;Ala34_Val327delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgAsnProTrpMetTrpTrpHisCysLeuValTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS833101" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000691243.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000510654.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000510654.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProValTer;Ala34_Val527delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProValTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS833119" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000692169.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS833577" }, { "coordinates": [ { "allele": "GTGA", "end": 231, "referenceAllele": "CTGG", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000692202.1:n.228_231delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS833597" }, { "coordinates": [ { "allele": "GTGA", "end": 216, "referenceAllele": "CTGG", "start": 212 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000692322.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000509017.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000509017.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnGlyProCysPheSerCysTrpTer;Ala34_Trp47delinsLeuArgArgPheCysGlnGlyProCysPheSerCysTrpTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS833659" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000692369.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000508453.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000508453.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer;Ala34_Gly718delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS833687" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000692599.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS833790" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000692635.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000508425.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000508425.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgAsnProTrpMetTrpTrpHisCysLeuValTer;Ala34_Val327delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgAsnProTrpMetTrpTrpHisCysLeuValTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS833803" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000693168.1:n.232_235delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS834098" }, { "coordinates": [ { "allele": "GTGA", "end": 235, "referenceAllele": "CTGG", "start": 231 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000693218.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000510577.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000510577.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspArgLeuGlyLeuAlaAlaGlyGlnGlyValAspIleTer;Ala34_Ile546delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspArgLeuGlyLeuAlaAlaGlyGlnGlyValAspIleTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS834124" }, { "coordinates": [ { "allele": "GTGA", "end": 711, "referenceAllele": "CTGG", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000693223.1:n.708_711delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS834126" }, { "coordinates": [ { "allele": "GTGA", "end": 189, "referenceAllele": "CTGG", "start": 185 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000693365.1:n.186_189delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS834209" }, { "coordinates": [ { "allele": "GTGA", "end": 212, "referenceAllele": "CTGG", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000371984.8:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000361052.3:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000361052.3:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer;Ala34_Thr660delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS750907", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371984.8:c.60_63delinsGTGA" }, "RefSeq": { "hgvs": "NM_017739.4:c.60_63delinsGTGA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361052.3:p.Ser20ArgfsTer2" }, "RefSeq": { "hgvs": "NP_060209.4:p.Ser20ArgfsTer2" } } } }, { "coordinates": [ { "allele": "GTGA", "end": 221, "referenceAllele": "CTGG", "start": 217 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000371984.7:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000361052.3:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000361052.3:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer;Ala34_Thr660delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS268856" }, { "coordinates": [ { "allele": "GTGA", "end": 714, "referenceAllele": "CTGG", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000371992.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000361060.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000361060.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetSerGluGluAlaThrLeuSerHisProAsnPheProGlyAlaThrProLysGlyGlyGlySerProArgSerProArgThrAspMetArgProProProGlyProCysGlyAlaGlyProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer;Ala34_Gly748delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetSerGluGluAlaThrLeuSerHisProAsnPheProGlyAlaThrProLysGlyGlyGlySerProArgSerProArgThrAspMetArgProProProGlyProCysGlyAlaGlyProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS268859" }, { "coordinates": [ { "allele": "GTGA", "end": 700, "referenceAllele": "CTGG", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000396420.7:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "ENSP00000379698.3:p.Ser20ArgfsTer2", "hgvsWellDefined": "ENSP00000379698.3:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysValLeuSerSerGlyArgAsnIleLeuAsnHisLeuProSerLeuProGlyGlyThrGlnSerCysTer;Ala34_Cys200delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysValLeuSerSerGlyArgAsnIleLeuAsnHisLeuProSerLeuProGlyGlyThrGlnSerCysTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS277268" }, { "coordinates": [ { "allele": "GTGA", "end": 344, "referenceAllele": "CTGG", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000489985.1:n.341_344delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS327925" }, { "coordinates": [ { "allele": "GTGA", "end": 187, "referenceAllele": "CTGG", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "ENST00000497439.5:n.184_187delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS333677" }, { "coordinates": [ { "allele": "GTGA", "end": 714, "referenceAllele": "CTGG", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "NM_001243766.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "NP_001230695.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "NP_001230695.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuValSerGluGluAlaThrLeuSerHisProAsnPheProGlyAlaThrProLysGlyGlyGlySerProArgSerProArgThrAspMetArgProProProGlyProCysGlyAlaGlyProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer;Ala34_Gly748delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuValSerGluGluAlaThrLeuSerHisProAsnPheProGlyAlaThrProLysGlyGlyGlySerProArgSerProArgThrAspMetArgProProProGlyProCysGlyAlaGlyProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS018596" }, { "coordinates": [ { "allele": "GTGA", "end": 227, "referenceAllele": "CTGG", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "NM_017739.3:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "NP_060209.3:p.Ser20ArgfsTer2", "hgvsWellDefined": "NP_060209.3:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuValValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer;Ala34_Thr660delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuValValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS035147" }, { "coordinates": [ { "allele": "GTGA", "end": 222, "referenceAllele": "CTGG", "start": 218 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "XM_005271010.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "XP_005271067.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "XP_005271067.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer;Ala34_Gly718delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS066735" }, { "coordinates": [ { "allele": "GTGA", "end": 187, "referenceAllele": "CTGG", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "XM_006710755.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "XP_006710818.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "XP_006710818.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer;Ala34_Gly718delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS068791" }, { "coordinates": [ { "allele": "GTGA", "end": 222, "referenceAllele": "CTGG", "start": 218 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "XM_006710756.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "XP_006710819.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "XP_006710819.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetSerGluGluAlaThrLeuSerHisProAsnPheProGlyAlaThrProLysGlyGlyGlySerProArgSerProArgThrAspMetArgProProProGlyProCysGlyAlaGlyProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer;Ala34_Gly748delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetSerGluGluAlaThrLeuSerHisProAsnPheProGlyAlaThrProLysGlyGlyGlySerProArgSerProArgThrAspMetArgProProProGlyProCysGlyAlaGlyProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS068792" }, { "coordinates": [ { "allele": "GTGA", "end": 222, "referenceAllele": "CTGG", "start": 218 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "XR_946706.1:n.219_222delinsGTGA" ], "referenceSequence": "http://reg.genome.network/refseq/RS140288" }, { "coordinates": [ { "allele": "GTGA", "end": 187, "referenceAllele": "CTGG", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "XM_017001690.1:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "XP_016857179.1:p.Ser20ArgfsTer2", "hgvsWellDefined": "XP_016857179.1:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer;Ala34_Thr660delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS557794" }, { "coordinates": [ { "allele": "GTGA", "end": 714, "referenceAllele": "CTGG", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "NM_001243766.2:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "NP_001230695.2:p.Ser20ArgfsTer2", "hgvsWellDefined": "NP_001230695.2:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetSerGluGluAlaThrLeuSerHisProAsnPheProGlyAlaThrProLysGlyGlyGlySerProArgSerProArgThrAspMetArgProProProGlyProCysGlyAlaGlyProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer;Ala34_Gly748delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetSerGluGluAlaThrLeuSerHisProAsnPheProGlyAlaThrProLysGlyGlyGlySerProArgSerProArgThrAspMetArgProProProGlyProCysGlyAlaGlyProGlySerGluSerAsnLeuPheIleAspCysProGluGlyLeuGluAsnArgProAsnLeuGluGlyLeuAspPhePheLeuGlyTrpAsnAlaAlaLeuArgValGlyLeuAlaLeuThrGlnGluThrAlaValProAsnProTrpThrGlyProAlaGlyAlaHisMetLeuThrGlnThrHisSerGluThrLeuArgHisTrpThrArgProProLeuSerLeuLeuPheValGlnIleSerLysAlaGlyTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS714515" }, { "coordinates": [ { "allele": "GTGA", "end": 212, "referenceAllele": "CTGG", "start": 208 } ], "gene": "http://reg.genome.network/gene/GN019139", "geneNCBI_id": 55624, "geneSymbol": "POMGNT1", "hgvs": [ "NM_017739.4:c.60_63delinsGTGA" ], "proteinEffect": { "hgvs": "NP_060209.4:p.Ser20ArgfsTer2", "hgvsWellDefined": "NP_060209.4:p.[Ser20_Gln32delinsTrpTyrLeuThrTrpLysTyrLysLeuThrAsnGlnArgAlaLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer;Ala34_Thr660delinsLeuArgArgPheCysGlnThrGlyAlaValLeuPheLeuLeuValThrValIleValAsnIleLysLeuIleLeuAspThrArgArgAlaIleSerGluAlaAsnGluAspProGluProGluGlnAspTyrAspGluAlaLeuGlyArgLeuGluProProArgArgArgGlySerGlyProArgArgValLeuAspValGluValTyrSerSerArgSerLysValTyrValAlaValAspGlyThrThrValLeuGluAspGluAlaArgGluGlnGlyArgGlyIleHisValIleValLeuAsnGlnAlaThrGlyHisValMetAlaLysArgValPheAspThrTyrSerProHisGluAspGluAlaMetValLeuPheLeuAsnMetValAlaProGlyArgValLeuIleCysThrValLysAspGluGlySerPheHisLeuLysAspThrAlaLysAlaLeuLeuArgSerLeuGlySerGlnAlaGlyProAlaLeuGlyTrpArgAspThrTrpAlaPheValGlyArgLysGlyGlyProValPheGlyGluLysHisSerLysSerProAlaLeuSerSerTrpGlyAspProValLeuLeuLysThrAspValProLeuSerSerAlaGluGluAlaGluCysHisTrpAlaAspThrGluLeuAsnArgArgArgArgArgPheCysSerLysValGluGlyTyrGlySerValCysSerCysLysAspProThrProIleGluPheSerProAspProLeuProAspAsnLysValLeuAsnValProValAlaValIleAlaGlyAsnArgProAsnTyrLeuTyrArgMetLeuArgSerLeuLeuSerAlaGlnGlyValSerProGlnMetIleThrValPheIleAspGlyTyrTyrGluGluProMetAspValValAlaLeuPheGlyLeuArgGlyIleGlnHisThrProIleSerIleLysAsnAlaArgValSerGlnHisTyrLysAlaSerLeuThrAlaThrPheAsnLeuPheProGluAlaLysPheAlaValValLeuGluGluAspLeuAspIleAlaValAspPhePheSerPheLeuSerGlnSerIleHisLeuLeuGluGluAspAspSerLeuTyrCysIleSerAlaTrpAsnAspGlnGlyTyrGluHisThrAlaGluAspProAlaLeuLeuTyrArgValGluThrMetProGlyLeuGlyTrpValLeuArgArgSerLeuTyrLysGluGluLeuGluProLysTrpProThrProGluLysLeuTrpAspTrpAspMetTrpMetArgMetProGluGlnArgArgGlyArgGluCysIleIleProAspValSerArgSerTyrHisPheGlyIleValGlyLeuAsnMetAsnGlyTyrPheHisGluAlaTyrPheLysLysHisLysPheAsnThrValProGlyValGlnLeuArgAsnValAspSerLeuLysLysGluAlaTyrGluValGluValHisArgLeuLeuSerGluAlaGluValLeuAspHisSerLysAsnProCysGluAspSerPheLeuProAspThrGluGlyHisThrTyrValAlaPheIleArgMetGluLysAspAspAspPheThrThrTrpThrGlnLeuAlaLysCysLeuHisIleTrpAspLeuAspValArgGlyAsnHisArgGlyLeuTrpArgLeuPheArgLysLysAsnHisPheLeuMetValGlyValProAlaSerProTyrSerValLysLysProProSerValThrProIlePheLeuGluProProProLysGluGluGlyAlaProGlyAlaProGluGlnThrTer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS728258", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371984.8:c.60_63delinsGTGA" }, "RefSeq": { "hgvs": "NM_017739.4:c.60_63delinsGTGA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000361052.3:p.Ser20ArgfsTer2" }, "RefSeq": { "hgvs": "NP_060209.4:p.Ser20ArgfsTer2" } } } } ], "type": "nucleotide" }