WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10141635_10149787del | CA2581463472 | VHL | c.-213_464del c.-213_341del c.-213_*18del | |
| 3 | g.10141849_10149966del | CA2581463473 | VHL | c.2_*320del c.2_*1del c.2_*197del | |
| 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.10143181_10152298del | CA2499216371 | VHL | c.340+994_*2333del c.*17+160_*2529del | 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.10145585_10153156del | CA2499216380 | VHL | c.341-929_*3191del c.*17+2564_*3387del c.340+3398_*3191del | 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.10147075_10150956del | CA2499216384 | VHL | c.*140+439_*1310del c.600-2712_1769del c.463+439_*991del c.341-2712_*991del c.*18-2712_*1187del | ClinVar |
| 3 | g.10147644_10152768del | CA2499216385 | VHL | c.463+1008_*2803del c.*18-2143_*2999del c.341-2143_*2803del | ClinVar |
| 3 | g.10148440_10158273del | CA2499216386 | ClinVar | ||
| 3 | g.10148566_10158401del | CA2499216387 | ClinVar | ||
| 3 | g.10148561_10152736del | CA2499216388 | VHL | c.464-143_*2771del c.464-1226_*2771del c.*18-1226_*2967del c.341-1226_*2771del | ClinVar |
| 3 | g.10148615_10158450del | CA2499216389 | ClinVar | ||
| 3 | g.10149784_10149788del | CA645525020 | VHL | c.*141-3_*142del c.600-3_601del c.575-3_576del c.464-3_465del c.341-3_342del n.600-3_601del c.*18-3_*19del | COSMIC |
| 3 | g.10149785_10149788del | CA645525024 | VHL | c.*141-2_*142del c.600-2_601del c.575-2_576del c.464-2_465del c.341-2_342del n.600-2_601del c.*18-2_*19del | COSMIC |
| 3 | g.10149785_10149792del | CA645525026 | VHL | c.*141-2_*146del c.600-2_605del c.575-2_580del c.464-2_469del c.341-2_346del n.600-2_605del c.*18-2_*23del | COSMIC |
| 3 | g.10149786_10149792del | CA645525023 | VHL | c.*141-1_*146del c.600-1_605del c.575-1_580del c.464-1_469del c.341-1_346del n.600-1_605del c.*18-1_*23del | COSMIC |
| 3 | g.10149787_10149801del | CA645525022 | VHL | c.*141_*155del c.600_614del c.575_589del c.464_478del c.341_355del n.600_614del c.*18_*32del | COSMIC |
| 3 | g.10149787_10149803del | CA2580068476 | VHL | c.*141_*157del c.600_616del c.575_591del c.464_480del c.341_357del n.600_616del c.*18_*34del | ClinVar |
| 3 | g.10149786_10149794del | CA645525027 | VHL | c.*141-1_*148del c.600-1_607del c.575-1_582del c.464-1_471del c.341-1_348del n.600-1_607del c.*18-1_*25del | COSMIC |
| 3 | g.10149787_10149797del | CA645525029 | VHL | c.*141_*151del c.600_610del c.575_585del c.464_474del c.341_351del n.600_610del c.*18_*28del | COSMIC |
| 3 | g.10149787del | CA432423035 | VHL | c.*141del (n.*141del) c.600del (n.600del) c.575del (p.Val192GlyfsTer4) c.464del (p.Val155GlyfsTer4) c.341del (p.Val114GlyfsTer4) n.600del c.*18del (n.*18del) | COSMIC |
| 3 | g.10149787T>A | CA351756032 | VHL | c.*141T>A (n.*141T>A) c.600T>A (n.600T>A) c.575T>A (p.Val192Glu) c.464T>A (p.Val155Glu) c.341T>A (p.Val114Glu) n.600T>A c.*18T>A (n.*18T>A) | dbSNP |
| 3 | g.10149787T>C | CA351756034 | VHL | c.*141T>C (n.*141T>C) c.600T>C (n.600T>C) c.575T>C (p.Val192Ala) c.464T>C (p.Val155Ala) c.341T>C (p.Val114Ala) n.600T>C c.*18T>C (n.*18T>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149787T>G | CA16621938 | VHL | c.*141T>G (n.*141T>G) c.600T>G (n.600T>G) c.575T>G (p.Val192Gly) c.464T>G (p.Val155Gly) c.341T>G (p.Val114Gly) n.600T>G c.*18T>G (n.*18T>G) | ClinVar dbSNP |
| 3 | g.10149787_10149788delinsAC | CA645525030 | VHL | c.*141_*142delinsAC (n.*141_*142delinsAC) c.600_601delinsAC (n.600_601delinsAC) c.575_576delinsAC (p.Val192Asp) c.464_465delinsAC (p.Val155Asp) c.341_342delinsAC (p.Val114Asp) n.600_601delinsAC c.*18_*19delinsAC (n.*18_*19delinsAC) | COSMIC |
| 3 | g.10149787_10149788delinsGC | CA645525031 | VHL | c.*141_*142delinsGC (n.*141_*142delinsGC) c.600_601delinsGC (n.600_601delinsGC) c.575_576delinsGC (p.Val192Gly) c.464_465delinsGC (p.Val155Gly) c.341_342delinsGC (p.Val114Gly) n.600_601delinsGC c.*18_*19delinsGC (n.*18_*19delinsGC) | COSMIC |
| 3 | g.10149787_10149791del | CA2499306942 | VHL | c.*141_*145del (n.*141_*145del) c.600_604del (n.600_604del) c.575_579del (p.Val192AspfsTer17) c.464_468del (p.Val155AspfsTer17) c.341_345del (p.Val114AspfsTer17) n.600_604del c.*18_*22del (n.*18_*22del) | |
| 3 | g.10149787_10149965del | CA2580612129 | VHL | c.*141_*319del (n.*141_*319del) c.600_778del (n.600_778del) c.575_753del (p.Val192GlufsTer?) c.464_642del (p.Val155GlufsTer?) c.341_519del (p.Val114GlufsTer?) n.600_778del c.*18_*196del (n.*18_*196del) | |
| 3 | g.10149788G>A | CA432423036 | VHL | c.*142G>A (n.*142G>A) c.601G>A (n.601G>A) c.576G>A (p.Val192=) c.465G>A (p.Val155=) c.342G>A (p.Val114=) n.601G>A c.*19G>A (n.*19G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.10149788G>C | CA432423045 | VHL | c.*142G>C (n.*142G>C) c.601G>C (n.601G>C) c.576G>C (p.Val192=) c.465G>C (p.Val155=) c.342G>C (p.Val114=) n.601G>C c.*19G>C (n.*19G>C) | dbSNP |
| 3 | g.10149788G= | CA1345062130 | VHL | c.*142G= (n.*142G=) c.601G= (n.601G=) c.576G= (p.Val192=) c.465G= (p.Val155=) c.342G= (p.Val114=) n.601G= c.*19G= (n.*19G=) | |
| 3 | g.10149788G>T | CA432423038 | VHL | c.*142G>T (n.*142G>T) c.601G>T (n.601G>T) c.576G>T (p.Val192=) c.465G>T (p.Val155=) c.342G>T (p.Val114=) n.601G>T c.*19G>T (n.*19G>T) | ClinVar dbSNP |
| 3 | g.10149788_10149793del | CA16621939 | VHL | c.*142_*147del (n.*142_*147del) c.601_606del (n.601_606del) c.576_581del (p.Tyr193_Thr194del) c.465_470del (p.Tyr156_Thr157del) c.342_347del (p.Tyr115_Thr116del) n.601_606del c.*19_*24del (n.*19_*24del) | |
| 3 | g.10149788_10149789insA | CA645525032 | VHL | c.*142_*143insA (n.*142_*143insA) c.601_602insA (n.601_602insA) c.576_577insA (p.Tyr193IlefsTer18) c.465_466insA (p.Tyr156IlefsTer18) c.342_343insA (p.Tyr115IlefsTer18) n.601_602insA c.*19_*20insA (n.*19_*20insA) | COSMIC |
| 3 | g.10149789T>A | CA351756038 | VHL | c.*143T>A (n.*143T>A) c.602T>A (n.602T>A) c.577T>A (p.Tyr193Asn) c.466T>A (p.Tyr156Asn) c.343T>A (p.Tyr115Asn) n.602T>A c.*20T>A (n.*20T>A) | dbSNP |
| 3 | g.10149789T>C | CA351756040 | VHL | c.*143T>C (n.*143T>C) c.602T>C (n.602T>C) c.577T>C (p.Tyr193His) c.466T>C (p.Tyr156His) c.343T>C (p.Tyr115His) n.602T>C c.*20T>C (n.*20T>C) | |
| 3 | g.10149789T>G | CA351756043 | VHL | c.*143T>G (n.*143T>G) c.602T>G (n.602T>G) c.577T>G (p.Tyr193Asp) c.466T>G (p.Tyr156Asp) c.343T>G (p.Tyr115Asp) n.602T>G c.*20T>G (n.*20T>G) | dbSNP COSMIC |
| 3 | g.10149791_10149792dup | CA645525034 | VHL | c.*145_*146dup (n.*145_*146dup) c.604_605dup (n.604_605dup) c.579_580dup (p.Thr194IlefsTer3) c.468_469dup (p.Thr157IlefsTer3) c.345_346dup (p.Thr116IlefsTer3) n.604_605dup c.*22_*23dup (n.*22_*23dup) | COSMIC |
| 3 | g.10149791_10149792del | CA645525033 | VHL | c.*145_*146del (n.*145_*146del) c.604_605del (n.604_605del) c.579_580del (p.Thr194SerfsTer16) c.468_469del (p.Thr157SerfsTer16) c.345_346del (p.Thr116SerfsTer16) n.604_605del c.*22_*23del (n.*22_*23del) | COSMIC COSMIC |
| 3 | g.10149790del | CA432423055 | VHL | c.*144del (n.*144del) c.603del (n.603del) c.578del (p.Tyr193LeufsTer3) c.467del (p.Tyr156LeufsTer3) c.344del (p.Tyr115LeufsTer3) n.603del c.*21del (n.*21del) | COSMIC |
| 3 | g.10149790A= | CA1345062134 | VHL | c.*144A= (n.*144A=) c.603A= (n.603A=) c.578A= (p.Tyr193=) c.467A= (p.Tyr156=) c.344A= (p.Tyr115=) n.603A= c.*21A= (n.*21A=) | |
| 3 | g.10149790A>C | CA351756049 | VHL | c.*144A>C (n.*144A>C) c.603A>C (n.603A>C) c.578A>C (p.Tyr193Ser) c.467A>C (p.Tyr156Ser) c.344A>C (p.Tyr115Ser) n.603A>C c.*21A>C (n.*21A>C) | |
| 3 | g.10149790A>G | CA020394 | VHL | c.*144A>G (n.*144A>G) c.603A>G (n.603A>G) c.578A>G (p.Tyr193Cys) c.467A>G (p.Tyr156Cys) c.344A>G (p.Tyr115Cys) n.603A>G c.*21A>G (n.*21A>G) | ClinVar dbSNP |
| 3 | g.10149790A>T | CA351756047 | VHL | c.*144A>T (n.*144A>T) c.603A>T (n.603A>T) c.578A>T (p.Tyr193Phe) c.467A>T (p.Tyr156Phe) c.344A>T (p.Tyr115Phe) n.603A>T c.*21A>T (n.*21A>T) | dbSNP |
| 3 | g.10149790dup | CA645525036 | VHL | c.*144dup (n.*144dup) c.603dup (n.603dup) c.578dup (p.Tyr193Ter) c.467dup (p.Tyr156Ter) c.344dup (p.Tyr115Ter) n.603dup c.*21dup (n.*21dup) | COSMIC |
| 3 | g.10149791_10149799del | CA645525035 | VHL | c.*145_*153del (n.*145_*153del) c.604_612del (n.604_612del) c.579_587del (p.Tyr193Ter) c.468_476del (p.Tyr156Ter) c.345_353del (p.Tyr115Ter) n.604_612del c.*22_*30del (n.*22_*30del) | COSMIC |