{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA355176064", "communityStandardTitle": [ "NM_024996.7(GFM1):c.527T>A (p.Leu176Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2836030[alleleid]", "alleleId": 2836030, "preferredName": "NM_024996.7(GFM1):c.527T>A (p.Leu176Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675913", "RCV": [ "RCV003461704" ], "variationId": 2675913 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.158364691T>A?assembly=hg19", "id": "chr3:g.158364691T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr3:g.158646902T>A?assembly=hg38", "id": "chr3:g.158646902T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1314096195", "rs": 1314096195 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-158364691-T-A?dataset=gnomad_r2_1", "id": "3-158364691-T-A", "variant": "3:158364691 T / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-158646902-T-A?dataset=gnomad_r3", "id": "3-158646902-T-A", "variant": "3:158646902 T / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/3-158646902-T-A?dataset=gnomad_r4", "id": "3-158646902-T-A", "variant": "3:158646902 T / A" } ] }, "genomicAlleles": [ { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 158646902, "referenceAllele": "T", "start": 158646901 } ], "hgvs": [ "NC_000003.12:g.158646902T>A", "CM000665.2:g.158646902T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000051" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 158364691, "referenceAllele": "T", "start": 158364690 } ], "hgvs": [ "NC_000003.11:g.158364691T>A", "CM000665.1:g.158364691T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000027" }, { "chromosome": "3", "coordinates": [ { "allele": "A", "end": 159847385, "referenceAllele": "T", "start": 159847384 } ], "hgvs": [ "NC_000003.10:g.159847385T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000003" }, { "coordinates": [ { "allele": "A", "end": 7375, "referenceAllele": "T", "start": 7374 } ], "hgvs": [ "NG_008441.1:g.7375T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001102" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "T", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000486715.6:c.527T>A" ], "proteinEffect": { "hgvs": "ENSP00000419038.1:p.Leu176Ter", "hgvsWellDefined": "ENSP00000419038.1:p.Leu176_Asn751delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757546", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000486715.6:c.527T>A" }, "RefSeq": { "hgvs": "NM_024996.7:c.527T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000419038.1:p.Leu176Ter" }, "RefSeq": { "hgvs": "NP_079272.4:p.Leu176Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 565, "referenceAllele": "T", "start": 564 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000264263.9:c.527T>A" ], "proteinEffect": { "hgvs": "ENSP00000264263.5:p.Leu176Ter", "hgvsWellDefined": "ENSP00000264263.5:p.Leu176_Asn770delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyHisPheLeuArgAspPheLeuProLeuLeuTrpAsnTrpAspArgArgSerGlySerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251466" }, { "coordinates": [ { "allele": "A", "end": 15, "referenceAllele": "T", "start": 14 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000478251.1:n.15T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS318897" }, { "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "T", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000478254.5:c.527T>A" ], "proteinEffect": { "hgvs": "ENSP00000417225.1:p.Leu176Ter", "hgvsWellDefined": "ENSP00000417225.1:p.Leu176_Gln453delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysAlaThrIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAlaSerThrGluLysTyrMetProGluThrSerValHisCysLeuAlaLeuThrValLeuValGluThrHisSerGlnThrLysProThrAlaAlaPheLeuTrpSerGlnPheMetPheLeuIleLeuSerPheGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS318900" }, { "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "T", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000478576.5:c.527T>A" ], "proteinEffect": { "hgvs": "ENSP00000418755.1:p.Leu176Ter", "hgvsWellDefined": "ENSP00000418755.1:p.Leu176_Phe591delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS319154" }, { "coordinates": [ { "allele": "T", "end": 361, "endIntronDirection": "-", "endIntronOffset": 692, "referenceAllele": "A", "start": 361, "startIntronDirection": "-", "startIntronOffset": 693 } ], "gene": "http://reg.genome.network/gene/GN013347", "geneNCBI_id": 56925, "geneSymbol": "LXN", "hgvs": [ "ENST00000482640.5:c.362-693A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322287" }, { "coordinates": [ { "allele": "A", "end": 884, "referenceAllele": "T", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "ENST00000486715.5:c.527T>A" ], "proteinEffect": { "hgvs": "ENSP00000419038.1:p.Leu176Ter", "hgvsWellDefined": "ENSP00000419038.1:p.Leu176_Asn751delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS325458" }, { "@id": "http://reg.genome.network/allele/PA2826928189", "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "T", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308164.1:c.527T>A" ], "proteinEffect": { "hgvs": "NP_001295093.1:p.Leu176Ter", "hgvsWellDefined": "NP_001295093.1:p.Leu176_Asn770delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyHisPheLeuArgAspPheLeuProLeuLeuTrpAsnTrpAspArgArgSerGlySerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026187" }, { "@id": "http://reg.genome.network/allele/PA2826928555", "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "T", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308166.1:c.527T>A" ], "proteinEffect": { "hgvs": "NP_001295095.1:p.Leu176Ter", "hgvsWellDefined": "NP_001295095.1:p.Leu176_Phe591delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026189" }, { "@id": "http://reg.genome.network/allele/PA2741987821", "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "T", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_024996.5:c.527T>A" ], "proteinEffect": { "hgvs": "NP_079272.4:p.Leu176Ter", "hgvsWellDefined": "NP_079272.4:p.Leu176_Asn751delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038154" }, { "coordinates": [ { "allele": "A", "end": 665, "referenceAllele": "T", "start": 664 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "XM_006713795.1:c.527T>A" ], "proteinEffect": { "hgvs": "XP_006713858.1:p.Leu176Ter", "hgvsWellDefined": "XP_006713858.1:p.Leu176_Asn712delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetSerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070364" }, { "coordinates": [ { "allele": "A", "end": 638, "referenceAllele": "T", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "XM_006713795.2:c.527T>A" ], "proteinEffect": { "hgvs": "XP_006713858.1:p.Leu176Ter", "hgvsWellDefined": "XP_006713858.1:p.Leu176_Asn712delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetSerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538583" }, { "@id": "http://reg.genome.network/allele/PA2828506463", "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "T", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374355.1:c.527T>A" ], "proteinEffect": { "hgvs": "NP_001361284.1:p.Leu176Ter", "hgvsWellDefined": "NP_001361284.1:p.Leu176_Asn724delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyHisPheLeuArgAspPheLeuProLeuLeuTrpAsnTrpAspArgArgSerGlySerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693242" }, { "@id": "http://reg.genome.network/allele/PA2828506853", "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "T", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374356.1:c.527T>A" ], "proteinEffect": { "hgvs": "NP_001361285.1:p.Leu176Ter", "hgvsWellDefined": "NP_001361285.1:p.Leu176_Asn712delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetSerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693243" }, { "@id": "http://reg.genome.network/allele/PA2828507184", "coordinates": [ { "allele": "A", "end": 801, "referenceAllele": "T", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374357.1:c.302T>A" ], "proteinEffect": { "hgvs": "NP_001361286.1:p.Leu101Ter", "hgvsWellDefined": "NP_001361286.1:p.Leu101_Asn676delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693244" }, { "coordinates": [ { "allele": "A", "end": 342, "endIntronDirection": "+", "endIntronOffset": 1121, "referenceAllele": "T", "start": 342, "startIntronDirection": "+", "startIntronOffset": 1120 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374358.1:c.234+1121T>A" ], "proteinEffect": { "hgvs": "NP_001361287.1:n.234+1121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693245" }, { "coordinates": [ { "allele": "A", "end": 342, "endIntronDirection": "+", "endIntronOffset": 1121, "referenceAllele": "T", "start": 342, "startIntronDirection": "+", "startIntronOffset": 1120 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374359.1:c.5+1121T>A" ], "proteinEffect": { "hgvs": "NP_001361288.1:n.5+1121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693246" }, { "coordinates": [ { "allele": "A", "end": 342, "endIntronDirection": "+", "endIntronOffset": 1121, "referenceAllele": "T", "start": 342, "startIntronDirection": "+", "startIntronOffset": 1120 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374360.1:c.5+1121T>A" ], "proteinEffect": { "hgvs": "NP_001361289.1:n.5+1121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693247" }, { "coordinates": [ { "allele": "A", "end": 342, "endIntronDirection": "+", "endIntronOffset": 1121, "referenceAllele": "T", "start": 342, "startIntronDirection": "+", "startIntronOffset": 1120 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001374361.1:c.5+1121T>A" ], "proteinEffect": { "hgvs": "NP_001361290.1:n.5+1121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS693248" }, { "@id": "http://reg.genome.network/allele/PA2741987821", "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "T", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_024996.7:c.527T>A" ], "proteinEffect": { "hgvs": "NP_079272.4:p.Leu176Ter", "hgvsWellDefined": "NP_079272.4:p.Leu176_Asn751delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698799", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000486715.6:c.527T>A" }, "RefSeq": { "hgvs": "NM_024996.7:c.527T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000419038.1:p.Leu176Ter" }, "RefSeq": { "hgvs": "NP_079272.4:p.Leu176Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "T", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164499.1:n.635T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705743" }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "T", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164500.1:n.635T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705744" }, { "coordinates": [ { "allele": "A", "end": 342, "endIntronDirection": "+", "endIntronOffset": 1121, "referenceAllele": "T", "start": 342, "startIntronDirection": "+", "startIntronOffset": 1120 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164501.1:n.342+1121T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705745" }, { "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "T", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NR_164502.1:n.635T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS705746" }, { "@id": "http://reg.genome.network/allele/PA2826928189", "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "T", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308164.2:c.527T>A" ], "proteinEffect": { "hgvs": "NP_001295093.1:p.Leu176Ter", "hgvsWellDefined": "NP_001295093.1:p.Leu176_Asn770delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyHisPheLeuArgAspPheLeuProLeuLeuTrpAsnTrpAspArgArgSerGlySerGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysGlyPheLeuAspAlaCysGluLysGlyProLeuSerGlyHisLysLeuSerGlyLeuArgPheValLeuGlnAspGlyAlaHisHisMetValAspSerAsnGluIleSerPheIleArgAlaGlyGluGlyAlaLeuLysGlnAlaLeuAlaAsnAlaThrLeuCysIleLeuGluProIleMetAlaValGluValValAlaProAsnGluPheGlnGlyGlnValIleAlaGlyIleAsnArgArgHisGlyValIleThrGlyGlnAspGlyValGluAspTyrPheThrLeuTyrAlaAspValProLeuAsnAspMetPheGlyTyrSerThrGluLeuArgSerCysThrGluGlyLysGlyGluTyrThrMetGluTyrSerArgTyrGlnProCysLeuProSerThrGlnGluAspValIleAsnLysTyrLeuGluAlaThrGlyGlnLeuProValLysLysGlyLysAlaLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717234" }, { "@id": "http://reg.genome.network/allele/PA2826928555", "coordinates": [ { "allele": "A", "end": 635, "referenceAllele": "T", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN013780", "geneNCBI_id": 85476, "geneSymbol": "GFM1", "hgvs": [ "NM_001308166.2:c.527T>A" ], "proteinEffect": { "hgvs": "NP_001295095.1:p.Leu176Ter", "hgvsWellDefined": "NP_001295095.1:p.Leu176_Phe591delinsAspArgMetGlySerAsnProAlaArgAlaLeuGlnGlnMetArgSerLysLeuAsnHisAsnAlaAlaPheMetGlnIleProMetGlyLeuGluGlyAsnPheLysGlyIleValAspLeuIleGluGluArgAlaIleTyrPheAspGlyAspPheGlyGlnIleValArgTyrGlyGluIleProAlaGluLeuArgAlaAlaAlaThrAspHisArgGlnGluLeuIleGluCysValAlaAsnSerAspGluGlnLeuGlyGluMetPheLeuGluGluLysIleProSerIleSerAspLeuLysLeuAlaIleArgArgAlaThrLeuLysArgSerPheThrProValPheLeuGlySerAlaLeuLysAsnLysGlyValGlnProLeuLeuAspAlaValLeuGluTyrLeuProAsnProSerGluValGlnAsnTyrAlaIleLeuAsnLysGluAspAspSerLysGluLysThrLysIleLeuMetAsnSerSerArgAspAsnSerHisProPheValGlyLeuAlaPheLysLeuGluValGlyArgPheGlyGlnLeuThrTyrValArgSerTyrGlnGlyGluLeuLysLysGlyAspThrIleTyrAsnThrArgThrArgLysLysValArgLeuGlnArgLeuAlaArgMetHisAlaAspMetMetGluAspValGluGluValTyrAlaGlyAspIleCysAlaLeuPheGlyIleAspCysAlaSerGlyAspThrPheThrAspLysAlaAsnSerGlyLeuSerMetGluSerIleHisValProAspProValIleSerIleAlaMetLysProSerAsnLysAsnAspLeuGluLysPheSerLysGlyIleGlyArgPheThrArgGluAspProThrPheLysValTyrPheAspThrGluAsnLysGluThrValIleSerGlyMetGlyGluLeuHisLeuGluIleTyrAlaGlnArgLeuGluArgGluTyrGlyCysProCysIleThrGlyLysProLysValAlaPheArgGluThrIleThrAlaProValProPheAspPheThrHisLysLysGlnSerGlyGlyAlaGlyGlnTyrGlyLysValIleGlyValLeuGluProLeuAspProGluAspTyrThrLysLeuGluPheSerAspGluThrPheGlySerAsnIleProLysGlnPheValProAlaValGluLysValAsnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717236" } ], "type": "nucleotide" }