{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA2695239792", "communityStandardTitle": [ "NM_000264.5(PTCH1):c.1350_1351delinsAA (p.Ala451Thr)" ], "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "TT", "end": 95477700, "referenceAllele": "CG", "start": 95477698 } ], "hgvs": [ "NC_000009.12:g.95477699_95477700delinsTT", "CM000671.2:g.95477699_95477700delinsTT" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "TT", "end": 98239982, "referenceAllele": "CG", "start": 98239980 } ], "hgvs": [ "NC_000009.11:g.98239981_98239982delinsTT", "CM000671.1:g.98239981_98239982delinsTT" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "TT", "end": 97279803, "referenceAllele": "CG", "start": 97279801 } ], "hgvs": [ "NC_000009.10:g.97279802_97279803delinsTT" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "AA", "end": 44267, "referenceAllele": "CG", "start": 44265 } ], "hgvs": [ "NG_007664.1:g.44266_44267delinsAA", "LRG_515:g.44266_44267delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS000667" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "AA", "end": 1653, "referenceAllele": "CG", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000711046.1:c.1152_1153delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000518556.1:p.Ala385Thr", "hgvsWellDefined": "ENSP00000518556.1:p.Ala385Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914577" }, { "coordinates": [ { "allele": "AA", "end": 1499, "referenceAllele": "CG", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.6:c.1347_1348delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000389744.2:p.Ala450Thr", "hgvsWellDefined": "ENSP00000389744.2:p.Ala450Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS824905", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1347_1348delinsAA" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1347_1348delinsAA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ala450Thr" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ala450Thr" } } } }, { "coordinates": [ { "allele": "AA", "end": 1042, "referenceAllele": "CG", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000690194.1:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000509379.1:p.Ala300Thr", "hgvsWellDefined": "ENSP00000509379.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS832578" }, { "coordinates": [ { "allele": "AA", "end": 1039, "referenceAllele": "CG", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000692981.1:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000510238.1:p.Ala300Thr", "hgvsWellDefined": "ENSP00000510238.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS834000" }, { "coordinates": [ { "allele": "AA", "end": 2256, "referenceAllele": "CG", "start": 2254 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.11:c.1350_1351delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ala451Thr", "hgvsWellDefined": "ENSP00000332353.6:p.Ala451Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS747203", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1350_1351delinsAA" }, "RefSeq": { "hgvs": "NM_000264.5:c.1350_1351delinsAA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ala451Thr" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ala451Thr" } } } }, { "coordinates": [ { "allele": "AA", "end": 1651, "referenceAllele": "CG", "start": 1649 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000331920.10:c.1350_1351delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000332353.6:p.Ala451Thr", "hgvsWellDefined": "ENSP00000332353.6:p.Ala451Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS259486" }, { "coordinates": [ { "allele": "AA", "end": 498, "endIntronDirection": "+", "endIntronOffset": 356, "referenceAllele": "CG", "start": 498, "startIntronDirection": "+", "startIntronOffset": 354 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375271.4:c.498+355_498+356delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000364420.4:n.498+355_498+356delinsAA" }, "referenceSequence": "http://reg.genome.network/refseq/RS270639" }, { "coordinates": [ { "allele": "AA", "end": 1493, "referenceAllele": "CG", "start": 1491 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375274.6:c.1347_1348delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000364423.2:p.Ala450Thr", "hgvsWellDefined": "ENSP00000364423.2:p.Ala450Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS270641" }, { "coordinates": [ { "allele": "AA", "end": 988, "referenceAllele": "CG", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000375290.6:c.987_988delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000364439.2:p.Ala330Thr", "hgvsWellDefined": "ENSP00000364439.2:p.Ala330Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS270645" }, { "coordinates": [ { "allele": "AA", "end": 1413, "referenceAllele": "CG", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000418258.5:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000396135.1:p.Ala300Thr", "hgvsWellDefined": "ENSP00000396135.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS285320" }, { "coordinates": [ { "allele": "AA", "end": 1257, "referenceAllele": "CG", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000421141.5:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000399981.1:p.Ala300Thr", "hgvsWellDefined": "ENSP00000399981.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS286658" }, { "coordinates": [ { "allele": "AA", "end": 1339, "referenceAllele": "CG", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000429896.6:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000414823.2:p.Ala300Thr", "hgvsWellDefined": "ENSP00000414823.2:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS290874" }, { "coordinates": [ { "allele": "AA", "end": 1739, "referenceAllele": "CG", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000430669.6:c.1152_1153delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000410287.2:p.Ala385Thr", "hgvsWellDefined": "ENSP00000410287.2:p.Ala385Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS291255" }, { "coordinates": [ { "allele": "AA", "end": 1647, "referenceAllele": "CG", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "ENST00000437951.5:c.1152_1153delinsAA" ], "proteinEffect": { "hgvs": "ENSP00000389744.1:p.Ala385Thr", "hgvsWellDefined": "ENSP00000389744.1:p.Ala385Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS294693" }, { "@id": "http://reg.genome.network/allele/PA645505877", "coordinates": [ { "allele": "AA", "end": 1539, "referenceAllele": "CG", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.3:c.1350_1351delinsAA", "LRG_515t1:c.1350_1351delinsAA" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ala451Thr", "hgvsWellDefined": "NP_000255.2:p.Ala451Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS006326" }, { "@id": "http://reg.genome.network/allele/PA2825486755", "coordinates": [ { "allele": "AA", "end": 1647, "referenceAllele": "CG", "start": 1645 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.1:c.1152_1153delinsAA", "LRG_515t2:c.1152_1153delinsAA" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ala385Thr", "hgvsWellDefined": "NP_001077071.1:p.Ala385Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010399" }, { "@id": "http://reg.genome.network/allele/PA2825493668", "coordinates": [ { "allele": "AA", "end": 1493, "referenceAllele": "CG", "start": 1491 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.1:c.1347_1348delinsAA" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ala450Thr", "hgvsWellDefined": "NP_001077072.1:p.Ala450Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010400" }, { "@id": "http://reg.genome.network/allele/PA2825500866", "coordinates": [ { "allele": "AA", "end": 1257, "referenceAllele": "CG", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.1:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ala300Thr", "hgvsWellDefined": "NP_001077073.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010401" }, { "@id": "http://reg.genome.network/allele/PA2825506408", "coordinates": [ { "allele": "AA", "end": 1240, "referenceAllele": "CG", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.1:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ala300Thr", "hgvsWellDefined": "NP_001077074.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010402" }, { "@id": "http://reg.genome.network/allele/PA2825509406", "coordinates": [ { "allele": "AA", "end": 1339, "referenceAllele": "CG", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.1:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ala300Thr", "hgvsWellDefined": "NP_001077075.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010403" }, { "@id": "http://reg.genome.network/allele/PA2825512271", "coordinates": [ { "allele": "AA", "end": 1413, "referenceAllele": "CG", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.1:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ala300Thr", "hgvsWellDefined": "NP_001077076.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS010404" }, { "coordinates": [ { "allele": "AA", "end": 1097, "referenceAllele": "CG", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_005252102.2:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "XP_005252159.1:p.Ala300Thr", "hgvsWellDefined": "XP_005252159.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS059832" }, { "coordinates": [ { "allele": "AA", "end": 1547, "endIntronDirection": "+", "endIntronOffset": 356, "referenceAllele": "CG", "start": 1547, "startIntronDirection": "+", "startIntronOffset": 354 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518868.1:c.1347+355_1347+356delinsAA" ], "proteinEffect": { "hgvs": "XP_011517170.1:n.1347+355_1347+356delinsAA" }, "referenceSequence": "http://reg.genome.network/refseq/RS086042" }, { "coordinates": [ { "allele": "AA", "end": 1046, "referenceAllele": "CG", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518869.1:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "XP_011517171.1:p.Ala300Thr", "hgvsWellDefined": "XP_011517171.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS086043" }, { "coordinates": [ { "allele": "AA", "end": 1034, "referenceAllele": "CG", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518870.1:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "XP_011517172.1:p.Ala300Thr", "hgvsWellDefined": "XP_011517172.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS086044" }, { "coordinates": [ { "allele": "AA", "end": 1021, "referenceAllele": "CG", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518871.1:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "XP_011517173.1:p.Ala300Thr", "hgvsWellDefined": "XP_011517173.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS086045" }, { "coordinates": [ { "allele": "AA", "end": 1004, "referenceAllele": "CG", "start": 1002 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518872.1:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "XP_011517174.1:p.Ala300Thr", "hgvsWellDefined": "XP_011517174.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS086046" }, { "coordinates": [ { "allele": "AA", "end": 798, "referenceAllele": "CG", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518873.1:c.510_511delinsAA" ], "proteinEffect": { "hgvs": "XP_011517175.1:p.Ala171Thr", "hgvsWellDefined": "XP_011517175.1:p.Ala171Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS086047" }, { "coordinates": [ { "allele": "AA", "end": 1551, "referenceAllele": "CG", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "XM_011518874.1:c.1350_1351delinsAA" ], "proteinEffect": { "hgvs": "XP_011517176.1:p.Ala451Thr", "hgvsWellDefined": "XP_011517176.1:p.Ala451Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS086048" }, { "@id": "http://reg.genome.network/allele/PA645505877", "coordinates": [ { "allele": "AA", "end": 1539, "referenceAllele": "CG", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.4:c.1350_1351delinsAA" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ala451Thr", "hgvsWellDefined": "NP_000255.2:p.Ala451Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS510773" }, { "@id": "http://reg.genome.network/allele/PA2825486755", "coordinates": [ { "allele": "AA", "end": 1739, "referenceAllele": "CG", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.2:c.1152_1153delinsAA" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ala385Thr", "hgvsWellDefined": "NP_001077071.1:p.Ala385Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511271" }, { "@id": "http://reg.genome.network/allele/PA2825493668", "coordinates": [ { "allele": "AA", "end": 1493, "referenceAllele": "CG", "start": 1491 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.2:c.1347_1348delinsAA" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ala450Thr", "hgvsWellDefined": "NP_001077072.1:p.Ala450Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511272" }, { "@id": "http://reg.genome.network/allele/PA2825500866", "coordinates": [ { "allele": "AA", "end": 1257, "referenceAllele": "CG", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.2:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ala300Thr", "hgvsWellDefined": "NP_001077073.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511273" }, { "@id": "http://reg.genome.network/allele/PA2825506408", "coordinates": [ { "allele": "AA", "end": 1240, "referenceAllele": "CG", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.2:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ala300Thr", "hgvsWellDefined": "NP_001077074.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511274" }, { "@id": "http://reg.genome.network/allele/PA2825509406", "coordinates": [ { "allele": "AA", "end": 1339, "referenceAllele": "CG", "start": 1337 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.2:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ala300Thr", "hgvsWellDefined": "NP_001077075.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511275" }, { "@id": "http://reg.genome.network/allele/PA2825512271", "coordinates": [ { "allele": "AA", "end": 1413, "referenceAllele": "CG", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.2:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ala300Thr", "hgvsWellDefined": "NP_001077076.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS511276" }, { "coordinates": [ { "allele": "AA", "end": 1535, "endIntronDirection": "+", "endIntronOffset": 356, "referenceAllele": "CG", "start": 1535, "startIntronDirection": "+", "startIntronOffset": 354 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.1:c.1347+355_1347+356delinsAA" ], "proteinEffect": { "hgvs": "NP_001341847.1:n.1347+355_1347+356delinsAA" }, "referenceSequence": "http://reg.genome.network/refseq/RS522747" }, { "coordinates": [ { "allele": "AA", "end": 1539, "referenceAllele": "CG", "start": 1537 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.1:n.1538_1539delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS531506" }, { "@id": "http://reg.genome.network/allele/PA645505877", "coordinates": [ { "allele": "AA", "end": 2256, "referenceAllele": "CG", "start": 2254 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_000264.5:c.1350_1351delinsAA" ], "proteinEffect": { "hgvs": "NP_000255.2:p.Ala451Thr", "hgvsWellDefined": "NP_000255.2:p.Ala451Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS674767", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000331920.11:c.1350_1351delinsAA" }, "RefSeq": { "hgvs": "NM_000264.5:c.1350_1351delinsAA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000332353.6:p.Ala451Thr" }, "RefSeq": { "hgvs": "NP_000255.2:p.Ala451Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2825509406", "coordinates": [ { "allele": "AA", "end": 1349, "referenceAllele": "CG", "start": 1347 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083606.3:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "NP_001077075.1:p.Ala300Thr", "hgvsWellDefined": "NP_001077075.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676359" }, { "coordinates": [ { "allele": "AA", "end": 2252, "endIntronDirection": "+", "endIntronOffset": 356, "referenceAllele": "CG", "start": 2252, "startIntronDirection": "+", "startIntronOffset": 354 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001354918.2:c.1347+355_1347+356delinsAA" ], "proteinEffect": { "hgvs": "NP_001341847.1:n.1347+355_1347+356delinsAA" }, "referenceSequence": "http://reg.genome.network/refseq/RS690361" }, { "coordinates": [ { "allele": "AA", "end": 2256, "referenceAllele": "CG", "start": 2254 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NR_149061.2:n.2255_2256delinsAA" ], "referenceSequence": "http://reg.genome.network/refseq/RS704914" }, { "@id": "http://reg.genome.network/allele/PA2825486755", "coordinates": [ { "allele": "AA", "end": 1653, "referenceAllele": "CG", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083602.3:c.1152_1153delinsAA" ], "proteinEffect": { "hgvs": "NP_001077071.1:p.Ala385Thr", "hgvsWellDefined": "NP_001077071.1:p.Ala385Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711862" }, { "@id": "http://reg.genome.network/allele/PA2825493668", "coordinates": [ { "allele": "AA", "end": 1499, "referenceAllele": "CG", "start": 1497 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083603.3:c.1347_1348delinsAA" ], "proteinEffect": { "hgvs": "NP_001077072.1:p.Ala450Thr", "hgvsWellDefined": "NP_001077072.1:p.Ala450Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711863", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000437951.6:c.1347_1348delinsAA" }, "RefSeq": { "hgvs": "NM_001083603.3:c.1347_1348delinsAA" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000389744.2:p.Ala450Thr" }, "RefSeq": { "hgvs": "NP_001077072.1:p.Ala450Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2825500866", "coordinates": [ { "allele": "AA", "end": 1257, "referenceAllele": "CG", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083604.3:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "NP_001077073.1:p.Ala300Thr", "hgvsWellDefined": "NP_001077073.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711864" }, { "@id": "http://reg.genome.network/allele/PA2825506408", "coordinates": [ { "allele": "AA", "end": 1240, "referenceAllele": "CG", "start": 1238 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083605.3:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "NP_001077074.1:p.Ala300Thr", "hgvsWellDefined": "NP_001077074.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711865" }, { "@id": "http://reg.genome.network/allele/PA2825512271", "coordinates": [ { "allele": "AA", "end": 1413, "referenceAllele": "CG", "start": 1411 } ], "gene": "http://reg.genome.network/gene/GN009585", "geneNCBI_id": 5727, "geneSymbol": "PTCH1", "hgvs": [ "NM_001083607.3:c.897_898delinsAA" ], "proteinEffect": { "hgvs": "NP_001077076.1:p.Ala300Thr", "hgvsWellDefined": "NP_001077076.1:p.Ala300Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711866" } ], "type": "nucleotide" }