{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2695224914", "communityStandardTitle": [ "NM_001042492.3(NF1):c.3643_3645del (p.Met1215del)" ], "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "", "end": 31233150, "referenceAllele": "ATG", "start": 31233147 } ], "hgvs": [ "NC_000017.11:g.31233148_31233150del", "CM000679.2:g.31233148_31233150del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "", "end": 29560168, "referenceAllele": "ATG", "start": 29560165 } ], "hgvs": [ "NC_000017.10:g.29560166_29560168del", "CM000679.1:g.29560166_29560168del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "", "end": 26584294, "referenceAllele": "ATG", "start": 26584291 } ], "hgvs": [ "NC_000017.9:g.26584292_26584294del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "", "end": 143174, "referenceAllele": "ATG", "start": 143171 } ], "hgvs": [ "NG_009018.1:g.143172_143174del", "LRG_214:g.143172_143174del" ], "referenceSequence": "http://reg.genome.network/refseq/RS001383" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 4073, "referenceAllele": "ATG", "start": 4070 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000696138.1:c.3688_3690del" ], "proteinEffect": { "hgvs": "ENSP00000512431.1:p.Met1230del", "hgvsWellDefined": "ENSP00000512431.1:p.Met1230del" }, "referenceSequence": "http://reg.genome.network/refseq/RS907613" }, { "coordinates": [ { "allele": "", "end": 990, "referenceAllele": "ATG", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000696139.1:c.988_990del" ], "proteinEffect": { "hgvs": "ENSP00000512432.1:p.Met330del", "hgvsWellDefined": "ENSP00000512432.1:p.Met330del" }, "referenceSequence": "http://reg.genome.network/refseq/RS907614" }, { "coordinates": [ { "allele": "", "end": 4008, "referenceAllele": "ATG", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000691014.1:c.3673_3675del" ], "proteinEffect": { "hgvs": "ENSP00000510595.1:p.Met1225del", "hgvsWellDefined": "ENSP00000510595.1:p.Met1225del" }, "referenceSequence": "http://reg.genome.network/refseq/RS832991" }, { "coordinates": [ { "allele": "", "end": 371, "referenceAllele": "ATG", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000693210.1:n.369_371del" ], "referenceSequence": "http://reg.genome.network/refseq/RS834119" }, { "coordinates": [ { "allele": "", "end": 3978, "referenceAllele": "ATG", "start": 3975 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000358273.9:c.3643_3645del" ], "proteinEffect": { "hgvs": "ENSP00000351015.4:p.Met1215del", "hgvsWellDefined": "ENSP00000351015.4:p.Met1215del" }, "referenceSequence": "http://reg.genome.network/refseq/RS749046", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358273.9:c.3643_3645del" }, "RefSeq": { "hgvs": "NM_001042492.3:c.3643_3645del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351015.4:p.Met1215del" }, "RefSeq": { "hgvs": "NP_001035957.1:p.Met1215del" } } } }, { "coordinates": [ { "allele": "", "end": 4028, "referenceAllele": "ATG", "start": 4025 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000356175.7:c.3643_3645del" ], "proteinEffect": { "hgvs": "ENSP00000348498.3:p.Met1215del", "hgvsWellDefined": "ENSP00000348498.3:p.Met1215del" }, "referenceSequence": "http://reg.genome.network/refseq/RS263674" }, { "coordinates": [ { "allele": "", "end": 4028, "referenceAllele": "ATG", "start": 4025 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000358273.8:c.3643_3645del" ], "proteinEffect": { "hgvs": "ENSP00000351015.4:p.Met1215del", "hgvsWellDefined": "ENSP00000351015.4:p.Met1215del" }, "referenceSequence": "http://reg.genome.network/refseq/RS264392" }, { "coordinates": [ { "allele": "", "end": 2643, "referenceAllele": "ATG", "start": 2640 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000456735.6:c.2641_2643del" ], "proteinEffect": { "hgvs": "ENSP00000389907.2:p.Met881del", "hgvsWellDefined": "ENSP00000389907.2:p.Met881del" }, "referenceSequence": "http://reg.genome.network/refseq/RS303624" }, { "coordinates": [ { "allele": "", "end": 121, "referenceAllele": "ATG", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000466819.5:c.119_121del" ], "referenceSequence": "http://reg.genome.network/refseq/RS310084" }, { "coordinates": [ { "allele": "", "end": 121, "referenceAllele": "ATG", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000479614.1:c.119_121del" ], "referenceSequence": "http://reg.genome.network/refseq/RS319948" }, { "coordinates": [ { "allele": "", "end": 2181, "referenceAllele": "ATG", "start": 2178 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000493220.5:n.2179_2181del" ], "referenceSequence": "http://reg.genome.network/refseq/RS330416" }, { "coordinates": [ { "allele": "", "end": 3420, "referenceAllele": "ATG", "start": 3417 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000495910.6:c.3418_3420del" ], "referenceSequence": "http://reg.genome.network/refseq/RS332511" }, { "coordinates": [ { "allele": "", "end": 3747, "referenceAllele": "ATG", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "ENST00000579081.5:c.3745_3747del" ], "proteinEffect": { "hgvs": "ENSP00000462408.1:p.Met1249del", "hgvsWellDefined": "ENSP00000462408.1:p.Met1249del" }, "referenceSequence": "http://reg.genome.network/refseq/RS385673" }, { "@id": "http://reg.genome.network/allele/PA2825127767", "coordinates": [ { "allele": "", "end": 4028, "referenceAllele": "ATG", "start": 4025 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_000267.3:c.3643_3645del", "LRG_214t1:c.3643_3645del" ], "proteinEffect": { "hgvs": "NP_000258.1:p.Met1215del", "hgvsWellDefined": "NP_000258.1:p.Met1215del" }, "referenceSequence": "http://reg.genome.network/refseq/RS006329" }, { "@id": "http://reg.genome.network/allele/PA645386286", "coordinates": [ { "allele": "", "end": 4028, "referenceAllele": "ATG", "start": 4025 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_001042492.2:c.3643_3645del", "LRG_214t2:c.3643_3645del" ], "proteinEffect": { "hgvs": "NP_001035957.1:p.Met1215del", "hgvsWellDefined": "NP_001035957.1:p.Met1215del" }, "referenceSequence": "http://reg.genome.network/refseq/RS009721" }, { "coordinates": [ { "allele": "", "end": 3978, "referenceAllele": "ATG", "start": 3975 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_005257983.1:c.3643_3645del" ], "proteinEffect": { "hgvs": "XP_005258040.1:p.Met1215del", "hgvsWellDefined": "XP_005258040.1:p.Met1215del" }, "referenceSequence": "http://reg.genome.network/refseq/RS061916" }, { "coordinates": [ { "allele": "", "end": 3978, "referenceAllele": "ATG", "start": 3975 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_005257984.1:c.3643_3645del" ], "proteinEffect": { "hgvs": "XP_005258041.1:p.Met1215del", "hgvsWellDefined": "XP_005258041.1:p.Met1215del" }, "referenceSequence": "http://reg.genome.network/refseq/RS061917" }, { "coordinates": [ { "allele": "", "end": 4008, "referenceAllele": "ATG", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721922.1:c.3673_3675del" ], "proteinEffect": { "hgvs": "XP_006721985.1:p.Met1225del", "hgvsWellDefined": "XP_006721985.1:p.Met1225del" }, "referenceSequence": "http://reg.genome.network/refseq/RS074318" }, { "coordinates": [ { "allele": "", "end": 4275, "referenceAllele": "ATG", "start": 4272 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721923.2:c.3634_3636del" ], "proteinEffect": { "hgvs": "XP_006721986.1:p.Met1212del", "hgvsWellDefined": "XP_006721986.1:p.Met1212del" }, "referenceSequence": "http://reg.genome.network/refseq/RS074319" }, { "coordinates": [ { "allele": "", "end": 4008, "referenceAllele": "ATG", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721924.1:c.3673_3675del" ], "proteinEffect": { "hgvs": "XP_006721987.1:p.Met1225del", "hgvsWellDefined": "XP_006721987.1:p.Met1225del" }, "referenceSequence": "http://reg.genome.network/refseq/RS074320" }, { "coordinates": [ { "allele": "", "end": 4008, "referenceAllele": "ATG", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721925.1:c.3673_3675del" ], "proteinEffect": { "hgvs": "XP_006721988.1:p.Met1225del", "hgvsWellDefined": "XP_006721988.1:p.Met1225del" }, "referenceSequence": "http://reg.genome.network/refseq/RS074321" }, { "coordinates": [ { "allele": "", "end": 4008, "referenceAllele": "ATG", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721926.2:c.3673_3675del" ], "proteinEffect": { "hgvs": "XP_006721989.1:p.Met1225del", "hgvsWellDefined": "XP_006721989.1:p.Met1225del" }, "referenceSequence": "http://reg.genome.network/refseq/RS074322" }, { "coordinates": [ { "allele": "", "end": 4008, "referenceAllele": "ATG", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721927.1:c.3673_3675del" ], "proteinEffect": { "hgvs": "XP_006721990.1:p.Met1225del", "hgvsWellDefined": "XP_006721990.1:p.Met1225del" }, "referenceSequence": "http://reg.genome.network/refseq/RS074323" }, { "coordinates": [ { "allele": "", "end": 4008, "referenceAllele": "ATG", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_006721928.2:c.3673_3675del" ], "proteinEffect": { "hgvs": "XP_006721991.1:p.Met1225del", "hgvsWellDefined": "XP_006721991.1:p.Met1225del" }, "referenceSequence": "http://reg.genome.network/refseq/RS074324" }, { "coordinates": [ { "allele": "", "end": 4005, "referenceAllele": "ATG", "start": 4002 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524852.1:c.3670_3672del" ], "proteinEffect": { "hgvs": "XP_011523154.1:p.Met1224del", "hgvsWellDefined": "XP_011523154.1:p.Met1224del" }, "referenceSequence": "http://reg.genome.network/refseq/RS091972" }, { "coordinates": [ { "allele": "", "end": 5466, "referenceAllele": "ATG", "start": 5463 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524853.1:c.3634_3636del" ], "proteinEffect": { "hgvs": "XP_011523155.1:p.Met1212del", "hgvsWellDefined": "XP_011523155.1:p.Met1212del" }, "referenceSequence": "http://reg.genome.network/refseq/RS091973" }, { "coordinates": [ { "allele": "", "end": 4501, "referenceAllele": "ATG", "start": 4498 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524854.1:c.3634_3636del" ], "proteinEffect": { "hgvs": "XP_011523156.1:p.Met1212del", "hgvsWellDefined": "XP_011523156.1:p.Met1212del" }, "referenceSequence": "http://reg.genome.network/refseq/RS091974" }, { "coordinates": [ { "allele": "", "end": 4533, "referenceAllele": "ATG", "start": 4530 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524855.1:c.3634_3636del" ], "proteinEffect": { "hgvs": "XP_011523157.1:p.Met1212del", "hgvsWellDefined": "XP_011523157.1:p.Met1212del" }, "referenceSequence": "http://reg.genome.network/refseq/RS091975" }, { "coordinates": [ { "allele": "", "end": 5211, "referenceAllele": "ATG", "start": 5208 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524856.1:c.3634_3636del" ], "proteinEffect": { "hgvs": "XP_011523158.1:p.Met1212del", "hgvsWellDefined": "XP_011523158.1:p.Met1212del" }, "referenceSequence": "http://reg.genome.network/refseq/RS091976" }, { "coordinates": [ { "allele": "", "end": 4008, "referenceAllele": "ATG", "start": 4005 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "XM_011524857.1:c.3673_3675del" ], "proteinEffect": { "hgvs": "XP_011523159.1:p.Met1225del", "hgvsWellDefined": "XP_011523159.1:p.Met1225del" }, "referenceSequence": "http://reg.genome.network/refseq/RS091977" }, { "@id": "http://reg.genome.network/allele/PA645386286", "coordinates": [ { "allele": "", "end": 3978, "referenceAllele": "ATG", "start": 3975 } ], "gene": "http://reg.genome.network/gene/GN007765", "geneNCBI_id": 4763, "geneSymbol": "NF1", "hgvs": [ "NM_001042492.3:c.3643_3645del" ], "proteinEffect": { "hgvs": "NP_001035957.1:p.Met1215del", "hgvsWellDefined": "NP_001035957.1:p.Met1215del" }, "referenceSequence": "http://reg.genome.network/refseq/RS676037", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358273.9:c.3643_3645del" }, "RefSeq": { "hgvs": "NM_001042492.3:c.3643_3645del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351015.4:p.Met1215del" }, "RefSeq": { "hgvs": "NP_001035957.1:p.Met1215del" } } } } ], "type": "nucleotide" }