{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355177119", "communityStandardTitle": [ "NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2836020[alleleid]", "alleleId": 2836020, "preferredName": "NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675903", "RCV": [ "RCV003461699" ], "variationId": 2675903 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.158371187T>G?assembly=hg19", "id": "chr3:g.158371187T>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.158653398T>G?assembly=hg38", "id": "chr3:g.158653398T>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2473966537", "rs": 2473966537 } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 158653398, "referenceAllele": "T", "start": 158653397 } ], "hgvs": [ "NC_000003.12:g.158653398T>G", "CM000665.2:g.158653398T>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 158371187, "referenceAllele": "T", "start": 158371186 } ], "hgvs": [ "NC_000003.11:g.158371187T>G", "CM000665.1:g.158371187T>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "G", "end": 159853881, "referenceAllele": "T", "start": 159853880 } ], "hgvs": [ "NC_000003.10:g.159853881T>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "G", "end": 13871, "referenceAllele": "T", "start": 13870 } ], "hgvs": [ "NG_008441.1:g.13871T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001102" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1037, "referenceAllele": "T", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000486715.6:c.929T>G" ], "proteinEffect": { "hgvs": "ENSP00000419038.1:p.Leu310Ter", "hgvsWellDefined": "ENSP00000419038.1:p.Leu310_Asn751delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757546", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000486715.6:c.929T>G" }, "RefSeq": { "hgvs": "NM_024996.7:c.929T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000419038.1:p.Leu310Ter" }, "RefSeq": { "hgvs": "NP_079272.4:p.Leu310Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1024, "referenceAllele": "T", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000264263.9:c.986T>G" ], "proteinEffect": { "hgvs": "ENSP00000264263.5:p.Leu329Ter", "hgvsWellDefined": "ENSP00000264263.5:p.Leu329_Asn770delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251466" }, { "coordinates": [ { "allele": "G", "end": 138, "referenceAllele": "T", "start": 137 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000312756.4:n.138T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS256723" }, { "coordinates": [ { "allele": "G", "end": 1036, "referenceAllele": "T", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000478254.5:c.929T>G" ], "proteinEffect": { "hgvs": "ENSP00000417225.1:p.Leu310Ter", "hgvsWellDefined": "ENSP00000417225.1:p.Leu310_Gln453delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAlaSerThrGluLysTyrMetProGluThrSerValHisCysLeuAlaLeuThrValLeuValGluThrHisSerGlnThrLysProThrAlaAlaPheLeuTrpSerGlnPheMetPheLeuIleLeuSerPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS318900" }, { "coordinates": [ { "allele": "G", "end": 1036, "referenceAllele": "T", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000478576.5:c.929T>G" ], "proteinEffect": { "hgvs": "ENSP00000418755.1:p.Leu310Ter", "hgvsWellDefined": "ENSP00000418755.1:p.Leu310_Phe591delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS319154" }, { "coordinates": [ { "allele": "C", "end": 361, "endIntronDirection": "-", "endIntronOffset": 7188, "referenceAllele": "A", "start": 361, "startIntronDirection": "-", "startIntronOffset": 7189 } ], "gene": "http://reg.genome.network/gene/GN013347", "geneNCBI_id": 56925, "geneSymbol": "LXN", "hgvs": [ "ENST00000482640.5:c.362-7189A>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS322287" }, { "coordinates": [ { "allele": "G", "end": 1286, "referenceAllele": "T", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000486715.5:c.929T>G" ], "proteinEffect": { "hgvs": "ENSP00000419038.1:p.Leu310Ter", "hgvsWellDefined": "ENSP00000419038.1:p.Leu310_Asn751delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS325458" }, { "@id": "http://reg.genome.network/allele/PA2826928277", "coordinates": [ { "allele": "G", "end": 1093, "referenceAllele": "T", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308164.1:c.986T>G" ], "proteinEffect": { "hgvs": "NP_001295093.1:p.Leu329Ter", "hgvsWellDefined": "NP_001295093.1:p.Leu329_Asn770delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026187" }, { "@id": "http://reg.genome.network/allele/PA2826928644", "coordinates": [ { "allele": "G", "end": 1036, "referenceAllele": "T", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308166.1:c.929T>G" ], "proteinEffect": { "hgvs": "NP_001295095.1:p.Leu310Ter", "hgvsWellDefined": "NP_001295095.1:p.Leu310_Phe591delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026189" }, { "@id": "http://reg.genome.network/allele/PA2830048487", "coordinates": [ { "allele": "G", "end": 1036, "referenceAllele": "T", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_024996.5:c.929T>G" ], "proteinEffect": { "hgvs": "NP_079272.4:p.Leu310Ter", "hgvsWellDefined": "NP_079272.4:p.Leu310_Asn751delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038154" }, { "coordinates": [ { "allele": "G", "end": 950, "referenceAllele": "T", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "XM_006713795.1:c.812T>G" ], "proteinEffect": { "hgvs": "XP_006713858.1:p.Leu271Ter", "hgvsWellDefined": "XP_006713858.1:p.Leu271_Asn712delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070364" }, { "coordinates": [ { "allele": "G", "end": 923, "referenceAllele": "T", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "XM_006713795.2:c.812T>G" ], "proteinEffect": { "hgvs": "XP_006713858.1:p.Leu271Ter", "hgvsWellDefined": "XP_006713858.1:p.Leu271_Asn712delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538583" }, { "@id": "http://reg.genome.network/allele/PA2828506553", "coordinates": [ { "allele": "G", "end": 1094, "referenceAllele": "T", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374355.1:c.986T>G" ], "proteinEffect": { "hgvs": "NP_001361284.1:p.Leu329Ter", "hgvsWellDefined": "NP_001361284.1:p.Leu329_Asn724delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693242" }, { "@id": "http://reg.genome.network/allele/PA2828506916", "coordinates": [ { "allele": "G", "end": 920, "referenceAllele": "T", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374356.1:c.812T>G" ], "proteinEffect": { "hgvs": "NP_001361285.1:p.Leu271Ter", "hgvsWellDefined": "NP_001361285.1:p.Leu271_Asn712delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693243" }, { "@id": "http://reg.genome.network/allele/PA2828507274", "coordinates": [ { "allele": "G", "end": 1203, "referenceAllele": "T", "start": 1202 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374357.1:c.704T>G" ], "proteinEffect": { "hgvs": "NP_001361286.1:p.Leu235Ter", "hgvsWellDefined": "NP_001361286.1:p.Leu235_Asn676delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693244" }, { "@id": "http://reg.genome.network/allele/PA2828507607", "coordinates": [ { "allele": "G", "end": 578, "referenceAllele": "T", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374358.1:c.470T>G" ], "proteinEffect": { "hgvs": "NP_001361287.1:p.Leu157Ter", "hgvsWellDefined": "NP_001361287.1:p.Leu157_Asn598delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693245" }, { "@id": "http://reg.genome.network/allele/PA2828507929", "coordinates": [ { "allele": "G", "end": 699, "referenceAllele": "T", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374359.1:c.362T>G" ], "proteinEffect": { "hgvs": "NP_001361288.1:p.Leu121Ter", "hgvsWellDefined": "NP_001361288.1:p.Leu121_Asn562delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693246" }, { "@id": "http://reg.genome.network/allele/PA2828508231", "coordinates": [ { "allele": "G", "end": 699, "referenceAllele": "T", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374360.1:c.362T>G" ], "proteinEffect": { "hgvs": "NP_001361289.1:p.Leu121Ter", "hgvsWellDefined": "NP_001361289.1:p.Leu121_Asn544delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693247" }, { "@id": "http://reg.genome.network/allele/PA2741870627", "coordinates": [ { "allele": "G", "end": 582, "referenceAllele": "T", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374361.1:c.245T>G" ], "proteinEffect": { "hgvs": "NP_001361290.1:p.Leu82Ter", "hgvsWellDefined": "NP_001361290.1:p.Leu82_Asn523delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693248" }, { "@id": "http://reg.genome.network/allele/PA2830048487", "coordinates": [ { "allele": "G", "end": 1037, "referenceAllele": "T", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_024996.7:c.929T>G" ], "proteinEffect": { "hgvs": "NP_079272.4:p.Leu310Ter", "hgvsWellDefined": "NP_079272.4:p.Leu310_Asn751delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698799", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000486715.6:c.929T>G" }, "RefSeq": { "hgvs": "NM_024996.7:c.929T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000419038.1:p.Leu310Ter" }, "RefSeq": { "hgvs": "NP_079272.4:p.Leu310Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1037, "referenceAllele": "T", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164499.1:n.1037T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705743" }, { "coordinates": [ { "allele": "G", "end": 1037, "referenceAllele": "T", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164500.1:n.1037T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705744" }, { "coordinates": [ { "allele": "G", "end": 582, "referenceAllele": "T", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164501.1:n.582T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705745" }, { "coordinates": [ { "allele": "G", "end": 916, "referenceAllele": "T", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164502.1:n.916T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS705746" }, { "@id": "http://reg.genome.network/allele/PA2826928277", "coordinates": [ { "allele": "G", "end": 1094, "referenceAllele": "T", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308164.2:c.986T>G" ], "proteinEffect": { "hgvs": "NP_001295093.1:p.Leu329Ter", "hgvsWellDefined": "NP_001295093.1:p.Leu329_Asn770delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717234" }, { "@id": "http://reg.genome.network/allele/PA2826928644", "coordinates": [ { "allele": "G", "end": 1037, "referenceAllele": "T", "start": 1036 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308166.2:c.929T>G" ], "proteinEffect": { "hgvs": "NP_001295095.1:p.Leu310Ter", "hgvsWellDefined": "NP_001295095.1:p.Leu310_Phe591delinsAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717236" } ], "type": "nucleotide" }