{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355176801", "communityStandardTitle": [ "NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2836007[alleleid]", "alleleId": 2836007, "preferredName": "NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675890", "RCV": [ "RCV003468267", "RCV003699108" ], "variationId": 2675890 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.158369982C>T?assembly=hg19", "id": "chr3:g.158369982C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.158652193C>T?assembly=hg38", "id": "chr3:g.158652193C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2473961042", "rs": 2473961042 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 158652193, "referenceAllele": "C", "start": 158652192 } ], "hgvs": [ "NC_000003.12:g.158652193C>T", "CM000665.2:g.158652193C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 158369982, "referenceAllele": "C", "start": 158369981 } ], "hgvs": [ "NC_000003.11:g.158369982C>T", "CM000665.1:g.158369982C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "T", "end": 159852676, "referenceAllele": "C", "start": 159852675 } ], "hgvs": [ "NC_000003.10:g.159852676C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "T", "end": 12666, "referenceAllele": "C", "start": 12665 } ], "hgvs": [ "NG_008441.1:g.12666C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001102" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000486715.6:c.787C>T" ], "proteinEffect": { "hgvs": "ENSP00000419038.1:p.Gln263Ter", "hgvsWellDefined": "ENSP00000419038.1:p.Gln263_Asn751delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757546", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000486715.6:c.787C>T" }, "RefSeq": { "hgvs": "NM_024996.7:c.787C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000419038.1:p.Gln263Ter" }, "RefSeq": { "hgvs": "NP_079272.4:p.Gln263Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 882, "referenceAllele": "C", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000264263.9:c.844C>T" ], "proteinEffect": { "hgvs": "ENSP00000264263.5:p.Gln282Ter", "hgvsWellDefined": "ENSP00000264263.5:p.Gln282_Asn770delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251466" }, { "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000478254.5:c.787C>T" ], "proteinEffect": { "hgvs": "ENSP00000417225.1:p.Gln263Ter", "hgvsWellDefined": "ENSP00000417225.1:p.Gln263_Gln453delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysAlaThrIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAlaSerThrGluLysTyrMetProGluThrSerValHisCysLeuAlaLeuThrValLeuValGluThrHisSerGlnThrLysProThrAlaAlaPheLeuTrpSerGlnPheMetPheLeuIleLeuSerPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS318900" }, { "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000478576.5:c.787C>T" ], "proteinEffect": { "hgvs": "ENSP00000418755.1:p.Gln263Ter", "hgvsWellDefined": "ENSP00000418755.1:p.Gln263_Phe591delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS319154" }, { "coordinates": [ { "allele": "A", "end": 361, "endIntronDirection": "-", "endIntronOffset": 5983, "referenceAllele": "G", "start": 361, "startIntronDirection": "-", "startIntronOffset": 5984 } ], "gene": "http://reg.genome.network/gene/GN013347", "geneNCBI_id": 56925, "geneSymbol": "LXN", "hgvs": [ "ENST00000482640.5:c.362-5984G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS322287" }, { "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "C", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000486715.5:c.787C>T" ], "proteinEffect": { "hgvs": "ENSP00000419038.1:p.Gln263Ter", "hgvsWellDefined": "ENSP00000419038.1:p.Gln263_Asn751delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS325458" }, { "@id": "http://reg.genome.network/allele/PA2826928252", "coordinates": [ { "allele": "T", "end": 951, "referenceAllele": "C", "start": 950 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308164.1:c.844C>T" ], "proteinEffect": { "hgvs": "NP_001295093.1:p.Gln282Ter", "hgvsWellDefined": "NP_001295093.1:p.Gln282_Asn770delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026187" }, { "@id": "http://reg.genome.network/allele/PA2826928617", "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308166.1:c.787C>T" ], "proteinEffect": { "hgvs": "NP_001295095.1:p.Gln263Ter", "hgvsWellDefined": "NP_001295095.1:p.Gln263_Phe591delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026189" }, { "@id": "http://reg.genome.network/allele/PA2830048455", "coordinates": [ { "allele": "T", "end": 894, "referenceAllele": "C", "start": 893 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_024996.5:c.787C>T" ], "proteinEffect": { "hgvs": "NP_079272.4:p.Gln263Ter", "hgvsWellDefined": "NP_079272.4:p.Gln263_Asn751delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038154" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "XM_006713795.1:c.670C>T" ], "proteinEffect": { "hgvs": "XP_006713858.1:p.Gln224Ter", "hgvsWellDefined": "XP_006713858.1:p.Gln224_Asn712delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070364" }, { "coordinates": [ { "allele": "T", "end": 781, "referenceAllele": "C", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "XM_006713795.2:c.670C>T" ], "proteinEffect": { "hgvs": "XP_006713858.1:p.Gln224Ter", "hgvsWellDefined": "XP_006713858.1:p.Gln224_Asn712delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538583" }, { "@id": "http://reg.genome.network/allele/PA2828506526", "coordinates": [ { "allele": "T", "end": 952, "referenceAllele": "C", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374355.1:c.844C>T" ], "proteinEffect": { "hgvs": "NP_001361284.1:p.Gln282Ter", "hgvsWellDefined": "NP_001361284.1:p.Gln282_Asn724delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693242" }, { "@id": "http://reg.genome.network/allele/PA2828506891", "coordinates": [ { "allele": "T", "end": 778, "referenceAllele": "C", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374356.1:c.670C>T" ], "proteinEffect": { "hgvs": "NP_001361285.1:p.Gln224Ter", "hgvsWellDefined": "NP_001361285.1:p.Gln224_Asn712delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693243" }, { "@id": "http://reg.genome.network/allele/PA2828507246", "coordinates": [ { "allele": "T", "end": 1061, "referenceAllele": "C", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374357.1:c.562C>T" ], "proteinEffect": { "hgvs": "NP_001361286.1:p.Gln188Ter", "hgvsWellDefined": "NP_001361286.1:p.Gln188_Asn676delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693244" }, { "@id": "http://reg.genome.network/allele/PA2828507580", "coordinates": [ { "allele": "T", "end": 436, "referenceAllele": "C", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374358.1:c.328C>T" ], "proteinEffect": { "hgvs": "NP_001361287.1:p.Gln110Ter", "hgvsWellDefined": "NP_001361287.1:p.Gln110_Asn598delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693245" }, { "@id": "http://reg.genome.network/allele/PA2828507904", "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374359.1:c.220C>T" ], "proteinEffect": { "hgvs": "NP_001361288.1:p.Gln74Ter", "hgvsWellDefined": "NP_001361288.1:p.Gln74_Asn562delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693246" }, { "@id": "http://reg.genome.network/allele/PA2741870618", "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374360.1:c.220C>T" ], "proteinEffect": { "hgvs": "NP_001361289.1:p.Gln74Ter", "hgvsWellDefined": "NP_001361289.1:p.Gln74_Asn544delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693247" }, { "@id": "http://reg.genome.network/allele/PA2828508494", "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374361.1:c.103C>T" ], "proteinEffect": { "hgvs": "NP_001361290.1:p.Gln35Ter", "hgvsWellDefined": "NP_001361290.1:p.Gln35_Asn523delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693248" }, { "@id": "http://reg.genome.network/allele/PA2830048455", "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_024996.7:c.787C>T" ], "proteinEffect": { "hgvs": "NP_079272.4:p.Gln263Ter", "hgvsWellDefined": "NP_079272.4:p.Gln263_Asn751delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698799", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000486715.6:c.787C>T" }, "RefSeq": { "hgvs": "NM_024996.7:c.787C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000419038.1:p.Gln263Ter" }, "RefSeq": { "hgvs": "NP_079272.4:p.Gln263Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164499.1:n.895C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705743" }, { "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164500.1:n.895C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705744" }, { "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164501.1:n.440C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705745" }, { "coordinates": [ { "allele": "T", "end": 778, "referenceAllele": "C", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164502.1:n.778C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705746" }, { "@id": "http://reg.genome.network/allele/PA2826928252", "coordinates": [ { "allele": "T", "end": 952, "referenceAllele": "C", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308164.2:c.844C>T" ], "proteinEffect": { "hgvs": "NP_001295093.1:p.Gln282Ter", "hgvsWellDefined": "NP_001295093.1:p.Gln282_Asn770delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717234" }, { "@id": "http://reg.genome.network/allele/PA2826928617", "coordinates": [ { "allele": "T", "end": 895, "referenceAllele": "C", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308166.2:c.787C>T" ], "proteinEffect": { "hgvs": "NP_001295095.1:p.Gln263Ter", "hgvsWellDefined": "NP_001295095.1:p.Gln263_Phe591delinsLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717236" } ], "type": "nucleotide" }