UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10139220_10148953del | CA2499216342 | ClinVar | ||
| 3 | g.10140648_10148414del | CA2499216345 | ClinVar | ||
| 3 | g.10141635_10149787del | CA2581463472 | VHL | c.-213_464del c.-213_341del c.-213_*18del | |
| 3 | g.10141847_10149786del | CA1139532106 | VHL | c.-1_*141-1del c.-1_575-1del c.-1_464-1del c.-1_341-1del c.-1_*18-1del | |
| 3 | g.10141849_10149966del | CA2581463473 | VHL | c.2_*320del c.2_*1del c.2_*197del | |
| 3 | g.10141848_10146636del | CA2581463475 | VHL | c.1_*140del c.1_600-3151del c.1_463del c.1_341-3151del c.1_*18-3151del | |
| 3 | g.10142071_10149891del | CA1139532528 | VHL | c.224_*245del c.224_704del c.224_679del c.224_568del c.224_445del c.224_*122del | |
| 3 | g.10142408_10148376del | CA2499216353 | VHL | c.340+221_*141-1411del c.340+221_600-1411del c.340+221_464-328del c.340+221_464-1411del c.340+221_341-1411del (n.340+221_341-1411del) c.340+221_*18-1411del | ClinVar |
| 3 | g.10142470_10147135del | CA2499216354 | VHL | c.340+283_*140+499del c.340+283_600-2652del c.340+283_463+499del c.340+283_341-2652del (n.340+283_341-2652del) c.340+283_*18-2652del | ClinVar |
| 3 | g.10142494_10148596del | CA2499216355 | VHL | c.341-269_*141-1191del c.341-269_600-1191del c.340+307_464-108del c.340+307_464-1191del c.340+307_341-1191del (n.340+307_341-1191del) c.341-269_*18-1191del | ClinVar |
| 3 | g.10142552_10148878del | CA2499216356 | VHL | c.341-211_*141-909del c.341-211_600-909del c.340+365_574+64del c.340+365_464-909del c.340+365_341-909del (n.340+365_341-909del) c.341-211_*18-909del | ClinVar |
| 3 | g.10142615_10148584del | CA2499216357 | VHL | c.341-148_*141-1203del c.341-148_600-1203del c.340+428_464-120del c.340+428_464-1203del c.340+428_341-1203del (n.340+428_341-1203del) n.70_600-1203del c.341-148_*18-1203del | ClinVar |
| 3 | g.10142631_10148600del | CA2499216358 | VHL | c.341-132_*141-1187del c.341-132_600-1187del c.340+444_464-104del c.340+444_464-1187del c.340+444_341-1187del (n.340+444_341-1187del) n.86_600-1187del c.341-132_*18-1187del | ClinVar |
| 3 | g.10143181_10152298del | CA2499216371 | VHL | c.340+994_*2333del c.*17+160_*2529del | ClinVar |
| 3 | g.10143206_10147086del | CA2499216372 | VHL | c.*17+185_*140+450del c.599+185_600-2701del (n.599+185_600-2701del) c.340+1019_463+450del c.340+1019_341-2701del (n.340+1019_341-2701del) n.476+185_599+450del c.*17+185_*18-2701del (n.*17+185_*18-2701del) | ClinVar |
| 3 | g.10143730_10148596del | CA2499216373 | VHL | c.*17+709_*141-1191del c.599+709_600-1191del (n.599+709_600-1191del) c.340+1543_464-108del c.340+1543_464-1191del c.340+1543_341-1191del (n.340+1543_341-1191del) n.476+709_600-1191del c.*17+709_*18-1191del (n.*17+709_*18-1191del) | ClinVar |
| 3 | g.10143767_10148310del | CA2499216374 | VHL | c.*17+746_*141-1477del c.599+746_600-1477del (n.599+746_600-1477del) c.340+1580_464-394del c.340+1580_464-1477del c.340+1580_341-1477del (n.340+1580_341-1477del) n.476+746_600-1477del c.*17+746_*18-1477del (n.*17+746_*18-1477del) | ClinVar |
| 3 | g.10144657_10148459del | CA2499216375 | VHL | c.*17+1636_*141-1328del c.599+1636_600-1328del (n.599+1636_600-1328del) c.341-1857_464-245del c.341-1857_464-1328del c.340+2470_341-1328del (n.340+2470_341-1328del) n.476+1636_600-1328del c.*17+1636_*18-1328del (n.*17+1636_*18-1328del) | ClinVar |
| 3 | g.10144931_10148310del | CA2499216376 | VHL | c.*18-1583_*141-1477del c.599+1910_600-1477del (n.599+1910_600-1477del) c.341-1583_464-394del c.341-1583_464-1477del c.340+2744_341-1477del (n.340+2744_341-1477del) n.477-1583_600-1477del c.*17+1910_*18-1477del (n.*17+1910_*18-1477del) | ClinVar |
| 3 | g.10145108_10153342del | CA2499216377 | VHL | c.341-1406_*3377del c.*17+2087_*3573del c.340+2921_*3377del | ClinVar |
| 3 | g.10145132_10153366del | CA2499216378 | VHL | c.341-1382_*3401del c.*17+2111_*3597del c.340+2945_*3401del | ClinVar |
| 3 | g.10145563_10148769del | CA2499216379 | VHL | c.*18-951_*141-1018del c.599+2542_600-1018del (n.599+2542_600-1018del) c.341-951_529del c.341-951_464-1018del c.340+3376_341-1018del (n.340+3376_341-1018del) n.477-951_600-1018del c.*17+2542_*18-1018del (n.*17+2542_*18-1018del) | ClinVar |
| 3 | g.10145585_10153156del | CA2499216380 | VHL | c.341-929_*3191del c.*17+2564_*3387del c.340+3398_*3191del | ClinVar |
| 3 | g.10146235_10149173del | CA2499216381 | VHL | c.*18-279_*141-614del c.599+3214_600-614del (n.599+3214_600-614del) c.341-279_574+359del c.341-279_464-614del c.341-3552_341-614del (n.341-3552_341-614del) n.477-279_600-614del c.*17+3214_*18-614del (n.*17+3214_*18-614del) | ClinVar |
| 3 | g.10146465_10152780del | CA2499216382 | VHL | c.341-49_*2815del c.*18-3322_*3011del c.341-3322_*2815del | ClinVar |
| 3 | g.10146480_10149909del | CA2581463488 | VHL | c.*18-34_*263del c.600-3307_722del c.341-34_697del c.341-34_586del c.341-3307_463del n.477-34_722del c.*18-3307_*140del | |
| 3 | g.10146514_10149967del | CA1139532108 | VHL | c.*18_*321del c.600-3273_780del c.341_*2del c.341-3273_*2del n.477_780del c.*18-3273_*198del | |
| 3 | g.10146631_10146632insTTGTTGACGGACAGCCTATTTTTGCCAATATCACACT | CA645524965 | VHL | c.*135_*136insTTGTTGACGGACAGCCTATTTTTGCCAATATCACACT (n.*135_*136insTTGTTGACGGACAGCCTATTTTTGCCAATATCACACT) c.600-3156_600-3155insTTGTTGACGGACAGCCTATTTTTGCCAATATCACACT (n.600-3156_600-3155insTTGTTGACGGACAGCCTATTTTTGCCAATATCACACT) c.458_459insTTGTTGACGGACAGCCTATTTTTGCCAATATCACACT (p.Pro154CysfsTer2) c.341-3156_341-3155insTTGTTGACGGACAGCCTATTTTTGCCAATATCACACT (n.341-3156_341-3155insTTGTTGACGGACAGCCTATTTTTGCCAATATCACACT) n.594_595insTTGTTGACGGACAGCCTATTTTTGCCAATATCACACT c.*18-3156_*18-3155insTTGTTGACGGACAGCCTATTTTTGCCAATATCACACT (n.*18-3156_*18-3155insTTGTTGACGGACAGCCTATTTTTGCCAATATCACACT) | COSMIC |
| 3 | g.10146603_10146634del | CA645524975 | VHL | c.*107_*138del (n.*107_*138del) c.600-3184_600-3153del (n.600-3184_600-3153del) c.430_461del (p.Gly144ArgfsTer?) c.430_461del (p.Gly144SerfsTer19) c.341-3184_341-3153del (n.341-3184_341-3153del) n.566_597del c.*18-3184_*18-3153del (n.*18-3184_*18-3153del) | COSMIC |
| 3 | g.10146608_10146622del | CA645524978 | VHL | c.*112_*126del (n.*112_*126del) c.600-3179_600-3165del (n.600-3179_600-3165del) c.435_449del (p.Gln145_Asn150delinsHis) c.341-3179_341-3165del (n.341-3179_341-3165del) n.571_585del c.*18-3179_*18-3165del (n.*18-3179_*18-3165del) | COSMIC |
| 3 | g.10146610_10146622del | CA645524980 | VHL | c.*114_*126del (n.*114_*126del) c.600-3177_600-3165del (n.600-3177_600-3165del) c.437_449del (p.Pro146LeufsTer19) c.437_449del (p.Pro146LeufsTer9) c.341-3177_341-3165del (n.341-3177_341-3165del) n.573_585del c.*18-3177_*18-3165del (n.*18-3177_*18-3165del) | COSMIC |
| 3 | g.10146610_10146623del | CA645524981 | VHL | c.*114_*127del (n.*114_*127del) c.600-3177_600-3164del (n.600-3177_600-3164del) c.437_450del (p.Pro146HisfsTer?) c.437_450del (p.Pro146HisfsTer23) c.341-3177_341-3164del (n.341-3177_341-3164del) n.573_586del c.*18-3177_*18-3164del (n.*18-3177_*18-3164del) | COSMIC |
| 3 | g.10146617_10146623del | CA645524997 | VHL | c.*121_*127del (n.*121_*127del) c.600-3170_600-3164del (n.600-3170_600-3164del) c.444_450del (p.Phe148LeufsTer19) c.444_450del (p.Phe148LeufsTer9) c.341-3170_341-3164del (n.341-3170_341-3164del) n.580_586del c.*18-3170_*18-3164del (n.*18-3170_*18-3164del) | COSMIC |
| 3 | g.10146616_10146628delinsA | CA2573050544 | VHL | c.*120_*132delinsA (n.*120_*132delinsA) c.600-3171_600-3159delinsA (n.600-3171_600-3159delinsA) c.443_455delinsA (p.Phe148Ter) c.341-3171_341-3159delinsA (n.341-3171_341-3159delinsA) n.579_591delinsA c.*18-3171_*18-3159delinsA (n.*18-3171_*18-3159delinsA) | |
| 3 | g.10146622_10146635del | CA658820719 | VHL | c.*126_*139del (n.*126_*139del) c.600-3165_600-3152del (n.600-3165_600-3152del) c.449_462del (p.Asn150ArgfsTer?) c.449_462del (p.Asn150SerfsTer19) c.341-3165_341-3152del (n.341-3165_341-3152del) n.585_598del c.*18-3165_*18-3152del (n.*18-3165_*18-3152del) | |
| 3 | g.10146620_10146626del | CA645525003 | VHL | c.*124_*130del (n.*124_*130del) c.600-3167_600-3161del (n.600-3167_600-3161del) c.447_453del (p.Asn150HisfsTer17) c.447_453del (p.Asn150HisfsTer7) c.341-3167_341-3161del (n.341-3167_341-3161del) n.583_589del c.*18-3167_*18-3161del (n.*18-3167_*18-3161del) | COSMIC |
| 3 | g.10146620_10146628del | CA2586965643 | VHL | c.*124_*132del (n.*124_*132del) c.600-3167_600-3159del (n.600-3167_600-3159del) c.447_455del (p.Asn150_Thr152del) c.341-3167_341-3159del (n.341-3167_341-3159del) n.583_591del c.*18-3167_*18-3159del (n.*18-3167_*18-3159del) | |
| 3 | g.10146619_10146745del | CA645525002 | VHL | c.*123_*140+109del c.600-3168_600-3042del (n.600-3168_600-3042del) c.446_463+109del c.341-3168_341-3042del (n.341-3168_341-3042del) n.582_599+109del c.*18-3168_*18-3042del (n.*18-3168_*18-3042del) | COSMIC |
| 3 | g.10146620_10146622delinsCAA | CA1345058857 | VHL | c.*124_*126delinsCAA (n.*124_*126delinsCAA) c.600-3167_600-3165delinsCAA (n.600-3167_600-3165delinsCAA) c.447_449delinsCAA (p.Ala149=) c.341-3167_341-3165delinsCAA (n.341-3167_341-3165delinsCAA) n.583_585delinsCAA c.*18-3167_*18-3165delinsCAA (n.*18-3167_*18-3165delinsCAA) | |
| 3 | g.10146621_10146622del | CA916081421 | VHL | c.*125_*126del (n.*125_*126del) c.600-3166_600-3165del (n.600-3166_600-3165del) c.448_449del (p.Asn150TyrfsTer?) c.448_449del (p.Asn150TyrfsTer23) c.341-3166_341-3165del (n.341-3166_341-3165del) n.584_585del c.*18-3166_*18-3165del (n.*18-3166_*18-3165del) | ClinVar dbSNP |
| 3 | g.10146622del | CA020360 | VHL | c.*126del (n.*126del) c.600-3165del (n.600-3165del) c.449del (p.Asn150IlefsTer19) c.449del (p.Asn150IlefsTer9) c.341-3165del (n.341-3165del) n.585del c.*18-3165del (n.*18-3165del) | ClinVar dbSNP COSMIC |
| 3 | g.10146622A= | CA1345058861 | VHL | c.*126A= (n.*126A=) c.600-3165A= (n.600-3165A=) c.449A= (p.Asn150=) c.341-3165A= (n.341-3165A=) n.585A= c.*18-3165A= (n.*18-3165A=) | |
| 3 | g.10146622A>C | CA351754334 | VHL | c.*126A>C (n.*126A>C) c.600-3165A>C (n.600-3165A>C) c.449A>C (p.Asn150Thr) c.341-3165A>C (n.341-3165A>C) n.585A>C c.*18-3165A>C (n.*18-3165A>C) | |
| 3 | g.10146622A>G | CA041030 | VHL | c.*126A>G (n.*126A>G) c.600-3165A>G (n.600-3165A>G) c.449A>G (p.Asn150Ser) c.341-3165A>G (n.341-3165A>G) n.585A>G c.*18-3165A>G (n.*18-3165A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.10146622A>T | CA351754338 | VHL | c.*126A>T (n.*126A>T) c.600-3165A>T (n.600-3165A>T) c.449A>T (p.Asn150Ile) c.341-3165A>T (n.341-3165A>T) n.585A>T c.*18-3165A>T (n.*18-3165A>T) | dbSNP |
| 3 | g.10146623_10146624insTAT | CA645525005 | VHL | c.*127_*128insTAT (n.*127_*128insTAT) c.600-3164_600-3163insTAT (n.600-3164_600-3163insTAT) c.450_451insTAT (p.Asn150_Ile151insTyr) c.341-3164_341-3163insTAT (n.341-3164_341-3163insTAT) n.586_587insTAT c.*18-3164_*18-3163insTAT (n.*18-3164_*18-3163insTAT) | COSMIC |
| 3 | g.10146622_10146625dup | CA645525004 | VHL | c.*126_*129dup (n.*126_*129dup) c.600-3165_600-3162dup (n.600-3165_600-3162dup) c.449_452dup (p.Thr152TyrfsTer?) c.449_452dup (p.Thr152TyrfsTer23) c.341-3165_341-3162dup (n.341-3165_341-3162dup) n.585_588dup c.*18-3165_*18-3162dup (n.*18-3165_*18-3162dup) | COSMIC |
| 3 | g.10146622_10146637delinsATATCACACTGCCAGG | CA1345058863 | VHL | c.*126_*140+1delinsATATCACACTGCCAGG c.600-3165_600-3150delinsATATCACACTGCCAGG (n.600-3165_600-3150delinsATATCACACTGCCAGG) c.449_463+1delinsATATCACACTGCCAGG c.341-3165_341-3150delinsATATCACACTGCCAGG (n.341-3165_341-3150delinsATATCACACTGCCAGG) n.585_599+1delinsATATCACACTGCCAGG c.*18-3165_*18-3150delinsATATCACACTGCCAGG (n.*18-3165_*18-3150delinsATATCACACTGCCAGG) | |
| 3 | g.10146623del | CA432421908 | VHL | c.*127del (n.*127del) c.600-3164del (n.600-3164del) c.450del (p.Asn150LysfsTer19) c.450del (p.Asn150LysfsTer9) c.341-3164del (n.341-3164del) n.586del c.*18-3164del (n.*18-3164del) | COSMIC |
| 3 | g.10146623T>A | CA351754341 | VHL | c.*127T>A (n.*127T>A) c.600-3164T>A (n.600-3164T>A) c.450T>A (p.Asn150Lys) c.341-3164T>A (n.341-3164T>A) n.586T>A c.*18-3164T>A (n.*18-3164T>A) | dbSNP COSMIC |