{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16042029", "communityStandardTitle": [ "NM_015166.4(MLC1):c.271_272del (p.Ile91ProfsTer?)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358669[alleleid]", "alleleId": 358669, "preferredName": "NM_015166.4(MLC1):c.271_272del (p.Ile91fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370234", "RCV": [ "RCV000409108" ], "variationId": 370234 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50518822_50518823del?assembly=hg19", "id": "chr22:g.50518822_50518823del" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.50080393_50080394del?assembly=hg38", "id": "chr22:g.50080393_50080394del" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516336", "rs": 1057516336 } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "", "end": 50080394, "referenceAllele": "AT", "start": 50080392 } ], "hgvs": [ "NC_000022.11:g.50080393_50080394del", "CM000684.2:g.50080393_50080394del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "", "end": 50518823, "referenceAllele": "AT", "start": 50518821 } ], "hgvs": [ "NC_000022.10:g.50518822_50518823del", "CM000684.1:g.50518822_50518823del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "", "end": 48860950, "referenceAllele": "AT", "start": 48860948 } ], "hgvs": [ "NC_000022.9:g.48860949_48860950del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" }, { "coordinates": [ { "allele": "", "end": 10537, "referenceAllele": "AT", "start": 10535 } ], "hgvs": [ "NG_009162.1:g.10536_10537del" ], "referenceSequence": "http://reg.genome.network/refseq/RS001456" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 403, "referenceAllele": "AT", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "ENST00000311597.10:c.271_272del" ], "proteinEffect": { "hgvs": "ENSP00000310375.6:p.Ile91ProfsTer?", "hgvsWellDefined": "ENSP00000310375.6:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS745730", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311597.10:c.271_272del" }, "RefSeq": { "hgvs": "NM_015166.4:c.271_272del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000310375.6:p.Ile91ProfsTer?" }, "RefSeq": { "hgvs": "NP_055981.1:p.Ile91ProfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 879, "referenceAllele": "AT", "start": 877 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "ENST00000311597.9:c.271_272del" ], "proteinEffect": { "hgvs": "ENSP00000310375.5:p.Ile91ProfsTer?", "hgvsWellDefined": "ENSP00000310375.5:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS256554" }, { "coordinates": [ { "allele": "", "end": 547, "referenceAllele": "AT", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "ENST00000395876.6:c.271_272del" ], "proteinEffect": { "hgvs": "ENSP00000379216.2:p.Ile91ProfsTer?", "hgvsWellDefined": "ENSP00000379216.2:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS276967" }, { "coordinates": [ { "allele": "", "end": 271, "referenceAllele": "AT", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "ENST00000442311.1:c.181_182del" ], "proteinEffect": { "hgvs": "ENSP00000401385.1:p.Ile61ProfsTer?", "hgvsWellDefined": "ENSP00000401385.1:p.[Ile61_Gln82delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu84_Ala90delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS296825" }, { "coordinates": [ { "allele": "", "end": 906, "referenceAllele": "AT", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_015166.3:c.271_272del" ], "proteinEffect": { "hgvs": "NP_055981.1:p.Ile91ProfsTer?", "hgvsWellDefined": "NP_055981.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS033795" }, { "coordinates": [ { "allele": "", "end": 545, "referenceAllele": "AT", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_139202.2:c.271_272del" ], "proteinEffect": { "hgvs": "NP_631941.1:p.Ile91ProfsTer?", "hgvsWellDefined": "NP_631941.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS041021" }, { "coordinates": [ { "allele": "", "end": 667, "referenceAllele": "AT", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "XM_011530678.1:c.271_272del" ], "proteinEffect": { "hgvs": "XP_011528980.1:p.Ile91ProfsTer?", "hgvsWellDefined": "XP_011528980.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS097721" }, { "coordinates": [ { "allele": "", "end": 667, "referenceAllele": "AT", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "XR_430476.2:n.666_667del" ], "referenceSequence": "http://reg.genome.network/refseq/RS118707" }, { "coordinates": [ { "allele": "", "end": 777, "referenceAllele": "AT", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "XM_011530678.2:c.271_272del" ], "proteinEffect": { "hgvs": "XP_011528980.1:p.Ile91ProfsTer?", "hgvsWellDefined": "XP_011528980.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS550062" }, { "coordinates": [ { "allele": "", "end": 334, "referenceAllele": "AT", "start": 332 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "XM_017028671.1:c.271_272del" ], "proteinEffect": { "hgvs": "XP_016884160.1:p.Ile91ProfsTer?", "hgvsWellDefined": "XP_016884160.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS578363" }, { "coordinates": [ { "allele": "", "end": 777, "referenceAllele": "AT", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "XR_001755180.2:n.776_777del" ], "referenceSequence": "http://reg.genome.network/refseq/RS601040" }, { "coordinates": [ { "allele": "", "end": 545, "referenceAllele": "AT", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "XR_001755181.2:n.544_545del" ], "referenceSequence": "http://reg.genome.network/refseq/RS601041" }, { "coordinates": [ { "allele": "", "end": 796, "referenceAllele": "AT", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_001376472.1:c.271_272del" ], "proteinEffect": { "hgvs": "NP_001363401.1:p.Ile91ProfsTer?", "hgvsWellDefined": "NP_001363401.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS694472" }, { "coordinates": [ { "allele": "", "end": 664, "referenceAllele": "AT", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_001376473.1:c.271_272del" ], "proteinEffect": { "hgvs": "NP_001363402.1:p.Ile91ProfsTer?", "hgvsWellDefined": "NP_001363402.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS694473" }, { "coordinates": [ { "allele": "", "end": 402, "referenceAllele": "AT", "start": 400 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_001376474.1:c.271_272del" ], "proteinEffect": { "hgvs": "NP_001363403.1:p.Ile91ProfsTer?", "hgvsWellDefined": "NP_001363403.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS694474" }, { "coordinates": [ { "allele": "", "end": 560, "referenceAllele": "AT", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_001376475.1:c.271_272del" ], "proteinEffect": { "hgvs": "NP_001363404.1:p.Ile91ProfsTer?", "hgvsWellDefined": "NP_001363404.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS694475" }, { "coordinates": [ { "allele": "", "end": 506, "referenceAllele": "AT", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_001376476.1:c.271_272del" ], "proteinEffect": { "hgvs": "NP_001363405.1:p.Ile91ProfsTer?", "hgvsWellDefined": "NP_001363405.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS694476" }, { "coordinates": [ { "allele": "", "end": 796, "referenceAllele": "AT", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_001376477.1:c.271_272del" ], "proteinEffect": { "hgvs": "NP_001363406.1:p.Ile91ProfsTer?", "hgvsWellDefined": "NP_001363406.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS694477" }, { "coordinates": [ { "allele": "", "end": 619, "referenceAllele": "AT", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_001376478.1:c.271_272del" ], "proteinEffect": { "hgvs": "NP_001363407.1:p.Ile91ProfsTer?", "hgvsWellDefined": "NP_001363407.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS694478" }, { "coordinates": [ { "allele": "", "end": 403, "referenceAllele": "AT", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_001376479.1:c.271_272del" ], "proteinEffect": { "hgvs": "NP_001363408.1:p.Ile91ProfsTer?", "hgvsWellDefined": "NP_001363408.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS694479" }, { "coordinates": [ { "allele": "", "end": 313, "referenceAllele": "AT", "start": 311 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_001376480.1:c.181_182del" ], "proteinEffect": { "hgvs": "NP_001363409.1:p.Ile61ProfsTer?", "hgvsWellDefined": "NP_001363409.1:p.[Ile61_Gln82delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu84_Ala90delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS694480" }, { "coordinates": [ { "allele": "", "end": 403, "referenceAllele": "AT", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_001376481.1:c.271_272del" ], "proteinEffect": { "hgvs": "NP_001363410.1:p.Ile91ProfsTer?", "hgvsWellDefined": "NP_001363410.1:p.Ile91_Leu120delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspGlnLeuGlnProHisProAlaAlaProAlaGlyAlaAla" }, "referenceSequence": "http://reg.genome.network/refseq/RS694481" }, { "coordinates": [ { "allele": "", "end": 398, "endIntronDirection": "+", "endIntronOffset": 2691, "referenceAllele": "AT", "start": 398, "startIntronDirection": "+", "startIntronOffset": 2689 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_001376482.1:c.267+2690_267+2691del" ], "proteinEffect": { "hgvs": "NP_001363411.1:n.267+2690_267+2691del" }, "referenceSequence": "http://reg.genome.network/refseq/RS694482" }, { "coordinates": [ { "allele": "", "end": 614, "endIntronDirection": "+", "endIntronOffset": 2691, "referenceAllele": "AT", "start": 614, "startIntronDirection": "+", "startIntronOffset": 2689 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_001376483.1:c.267+2690_267+2691del" ], "proteinEffect": { "hgvs": "NP_001363412.1:n.267+2690_267+2691del" }, "referenceSequence": "http://reg.genome.network/refseq/RS694483" }, { "coordinates": [ { "allele": "", "end": 165, "referenceAllele": "AT", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_001376484.1:c.34_35del" ], "proteinEffect": { "hgvs": "NP_001363413.1:p.Ile12ProfsTer?", "hgvsWellDefined": "NP_001363413.1:p.[Ile12_Gln33delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu35_Ala41delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS694484" }, { "coordinates": [ { "allele": "", "end": 403, "referenceAllele": "AT", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_015166.4:c.271_272del" ], "proteinEffect": { "hgvs": "NP_055981.1:p.Ile91ProfsTer?", "hgvsWellDefined": "NP_055981.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS697457", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311597.10:c.271_272del" }, "RefSeq": { "hgvs": "NM_015166.4:c.271_272del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000310375.6:p.Ile91ProfsTer?" }, "RefSeq": { "hgvs": "NP_055981.1:p.Ile91ProfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 619, "referenceAllele": "AT", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NM_139202.3:c.271_272del" ], "proteinEffect": { "hgvs": "NP_631941.1:p.Ile91ProfsTer?", "hgvsWellDefined": "NP_631941.1:p.[Ile91_Gln112delinsProLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArgGlnCysAspSerGlnLeuSerAsp;Leu114_Ala120delinsValCysPheHisValCysCys]" }, "referenceSequence": "http://reg.genome.network/refseq/RS699859" }, { "coordinates": [ { "allele": "", "end": 619, "referenceAllele": "AT", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NR_164811.1:n.618_619del" ], "referenceSequence": "http://reg.genome.network/refseq/RS705895" }, { "coordinates": [ { "allele": "", "end": 403, "referenceAllele": "AT", "start": 401 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NR_164812.1:n.402_403del" ], "referenceSequence": "http://reg.genome.network/refseq/RS705896" }, { "coordinates": [ { "allele": "", "end": 796, "referenceAllele": "AT", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN017082", "geneNCBI_id": 23209, "geneSymbol": "MLC1", "hgvs": [ "NR_164813.1:n.795_796del" ], "referenceSequence": "http://reg.genome.network/refseq/RS705897" } ], "type": "nucleotide" }