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.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.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.10149817_10149828delinsTTGTCCGGAGCC | CA1345062315 | VHL | c.*171_*182delinsTTGTCCGGAGCC (n.*171_*182delinsTTGTCCGGAGCC) c.630_641delinsTTGTCCGGAGCC (n.630_641delinsTTGTCCGGAGCC) c.605_616delinsTTGTCCGGAGCC (p.Val202=) c.494_505delinsTTGTCCGGAGCC (p.Val165=) c.371_382delinsTTGTCCGGAGCC (p.Val124=) n.630_641delinsTTGTCCGGAGCC c.*48_*59delinsTTGTCCGGAGCC (n.*48_*59delinsTTGTCCGGAGCC) | |
| 3 | g.10149819_10149829del | CA357119 | VHL | c.*173_*183del (n.*173_*183del) c.632_642del (n.632_642del) c.607_617del (p.Val203SerfsTer4) c.496_506del (p.Val166SerfsTer4) c.373_383del (p.Val125SerfsTer4) n.632_642del c.*50_*60del (n.*50_*60del) | ClinVar dbSNP |
| 3 | g.10149827_10149842del | CA2499216391 | VHL | c.*181_*196del (n.*181_*196del) c.640_655del (n.640_655del) c.615_630del (p.Ser205ArgfsTer29) c.504_519del (p.Ser168ArgfsTer29) c.381_396del (p.Ser127ArgfsTer29) n.640_655del c.*58_*73del (n.*58_*73del) | ClinVar dbSNP |
| 3 | g.10149830_10149839del | CA645525074 | VHL | c.*184_*193del (n.*184_*193del) c.643_652del (n.643_652del) c.618_627del (p.Val207ArgfsTer29) c.507_516del (p.Val170ArgfsTer29) c.384_393del (p.Val129ArgfsTer29) n.643_652del c.*61_*70del (n.*61_*70del) | COSMIC COSMIC |
| 3 | g.10149826_10149832del | CA645525075 | VHL | c.*180_*186del (n.*180_*186del) c.639_645del (n.639_645del) c.614_620del (p.Ser205ThrfsTer?) c.503_509del (p.Ser168ThrfsTer?) c.380_386del (p.Ser127ThrfsTer?) n.639_645del c.*57_*63del (n.*57_*63del) | COSMIC |
| 3 | g.10149826_10149836del | CA2573131812 | VHL | c.*180_*190del (n.*180_*190del) c.639_649del (n.639_649del) c.614_624del (p.Ser205ThrfsTer2) c.503_513del (p.Ser168ThrfsTer2) c.380_390del (p.Ser127ThrfsTer2) n.639_649del c.*57_*67del (n.*57_*67del) | |
| 3 | g.10149828dup | CA1139655762 | VHL | c.*182dup (n.*182dup) c.641dup (n.641dup) c.616dup (p.Leu206ProfsTer5) c.505dup (p.Leu169ProfsTer5) c.382dup (p.Leu128ProfsTer5) n.641dup c.*59dup (n.*59dup) | ClinVar dbSNP |
| 3 | g.10149828del | CA432423309 | VHL | c.*182del (n.*182del) c.641del (n.641del) c.616del (p.Leu206Ter) c.505del (p.Leu169Ter) c.382del (p.Leu128Ter) n.641del c.*59del (n.*59del) | COSMIC |
| 3 | g.10149828_10149833del | CA645525078 | VHL | c.*182_*187del (n.*182_*187del) c.641_646del (n.641_646del) c.616_621del (p.Leu206_Val207del) c.505_510del (p.Leu169_Val170del) c.382_387del (p.Leu128_Val129del) n.641_646del c.*59_*64del (n.*59_*64del) | COSMIC |
| 3 | g.10149827_10149834del | CA645525077 | VHL | c.*181_*188del (n.*181_*188del) c.640_647del (n.640_647del) c.615_622del (p.Ser205ArgfsTer3) c.504_511del (p.Ser168ArgfsTer3) c.381_388del (p.Ser127ArgfsTer3) n.640_647del c.*58_*65del (n.*58_*65del) | COSMIC |
| 3 | g.10149828C>A | CA351756187 | VHL | c.*182C>A (n.*182C>A) c.641C>A (n.641C>A) c.616C>A (p.Leu206Ile) c.505C>A (p.Leu169Ile) c.382C>A (p.Leu128Ile) n.641C>A c.*59C>A (n.*59C>A) | dbSNP |
| 3 | g.10149828C= | CA1345062374 | VHL | c.*182C= (n.*182C=) c.641C= (n.641C=) c.616C= (p.Leu206=) c.505C= (p.Leu169=) c.382C= (p.Leu128=) n.641C= c.*59C= (n.*59C=) | |
| 3 | g.10149828C>G | CA351756188 | VHL | c.*182C>G (n.*182C>G) c.641C>G (n.641C>G) c.616C>G (p.Leu206Val) c.505C>G (p.Leu169Val) c.382C>G (p.Leu128Val) n.641C>G c.*59C>G (n.*59C>G) | ClinVar dbSNP |
| 3 | g.10149828C>T | CA432423313 | VHL | c.*182C>T (n.*182C>T) c.641C>T (n.641C>T) c.616C>T (p.Leu206=) c.505C>T (p.Leu169=) c.382C>T (p.Leu128=) n.641C>T c.*59C>T (n.*59C>T) | COSMIC |
| 3 | g.10149828_10149829delinsCT | CA1345062372 | VHL | c.*182_*183delinsCT (n.*182_*183delinsCT) c.641_642delinsCT (n.641_642delinsCT) c.616_617delinsCT (p.Leu206=) c.505_506delinsCT (p.Leu169=) c.382_383delinsCT (p.Leu128=) n.641_642delinsCT c.*59_*60delinsCT (n.*59_*60delinsCT) | |
| 3 | g.10149829_10149833del | CA645525079 | VHL | c.*183_*187del (n.*183_*187del) c.642_646del (n.642_646del) c.617_621del (p.Leu206GlnfsTer3) c.506_510del (p.Leu169GlnfsTer3) c.383_387del (p.Leu128GlnfsTer3) n.642_646del c.*60_*64del (n.*60_*64del) | COSMIC |
| 3 | g.10149829del | CA432423319 | VHL | c.*183del (n.*183del) c.642del (n.642del) c.617del (p.Leu206GlnfsTer?) c.506del (p.Leu169GlnfsTer?) c.383del (p.Leu128GlnfsTer?) n.642del c.*60del (n.*60del) | ClinVar dbSNP gnomAD v2 COSMIC |
| 3 | g.10149829T>A | CA351756189 | VHL | c.*183T>A (n.*183T>A) c.642T>A (n.642T>A) c.617T>A (p.Leu206Gln) c.506T>A (p.Leu169Gln) c.383T>A (p.Leu128Gln) n.642T>A c.*60T>A (n.*60T>A) | dbSNP |
| 3 | g.10149829T>C | CA351756191 | VHL | c.*183T>C (n.*183T>C) c.642T>C (n.642T>C) c.617T>C (p.Leu206Pro) c.506T>C (p.Leu169Pro) c.383T>C (p.Leu128Pro) n.642T>C c.*60T>C (n.*60T>C) | ClinVar dbSNP COSMIC |
| 3 | g.10149829T>G | CA351756190 | VHL | c.*183T>G (n.*183T>G) c.642T>G (n.642T>G) c.617T>G (p.Leu206Arg) c.506T>G (p.Leu169Arg) c.383T>G (p.Leu128Arg) n.642T>G c.*60T>G (n.*60T>G) | |
| 3 | g.10149829T= | CA1345062379 | VHL | c.*183T= (n.*183T=) c.642T= (n.642T=) c.617T= (p.Leu206=) c.506T= (p.Leu169=) c.383T= (p.Leu128=) n.642T= c.*60T= (n.*60T=) | |
| 3 | g.10149830del | CA432423324 | VHL | c.*184del (n.*184del) c.643del (n.643del) c.618del (p.Val207SerfsTer?) c.507del (p.Val170SerfsTer?) c.384del (p.Val129SerfsTer?) n.643del c.*61del (n.*61del) | COSMIC |
| 3 | g.10149830A= | CA1345062385 | VHL | c.*184A= (n.*184A=) c.643A= (n.643A=) c.618A= (p.Leu206=) c.507A= (p.Leu169=) c.384A= (p.Leu128=) n.643A= c.*61A= (n.*61A=) | |
| 3 | g.10149830A>C | CA10582116 | VHL | c.*184A>C (n.*184A>C) c.643A>C (n.643A>C) c.618A>C (p.Leu206=) c.507A>C (p.Leu169=) c.384A>C (p.Leu128=) n.643A>C c.*61A>C (n.*61A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.10149830A>G | CA432423322 | VHL | c.*184A>G (n.*184A>G) c.643A>G (n.643A>G) c.618A>G (p.Leu206=) c.507A>G (p.Leu169=) c.384A>G (p.Leu128=) n.643A>G c.*61A>G (n.*61A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149830A>T | CA432423326 | VHL | c.*184A>T (n.*184A>T) c.643A>T (n.643A>T) c.618A>T (p.Leu206=) c.507A>T (p.Leu169=) c.384A>T (p.Leu128=) n.643A>T c.*61A>T (n.*61A>T) | dbSNP |
| 3 | g.10149831G>A | CA351756194 | VHL | c.*185G>A (n.*185G>A) c.644G>A (n.644G>A) c.619G>A (p.Val207Ile) c.508G>A (p.Val170Ile) c.385G>A (p.Val129Ile) n.644G>A c.*62G>A (n.*62G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149831G>C | CA351756192 | VHL | c.*185G>C (n.*185G>C) c.644G>C (n.644G>C) c.619G>C (p.Val207Leu) c.508G>C (p.Val170Leu) c.385G>C (p.Val129Leu) n.644G>C c.*62G>C (n.*62G>C) | ClinVar dbSNP |
| 3 | g.10149831G= | CA1345062390 | VHL | c.*185G= (n.*185G=) c.644G= (n.644G=) c.619G= (p.Val207=) c.508G= (p.Val170=) c.385G= (p.Val129=) n.644G= c.*62G= (n.*62G=) | |
| 3 | g.10149831G>T | CA351756193 | VHL | c.*185G>T (n.*185G>T) c.644G>T (n.644G>T) c.619G>T (p.Val207Phe) c.508G>T (p.Val170Phe) c.385G>T (p.Val129Phe) n.644G>T c.*62G>T (n.*62G>T) | dbSNP |
| 3 | g.10149831_10149832delinsGT | CA1345062389 | VHL | c.*185_*186delinsGT (n.*185_*186delinsGT) c.644_645delinsGT (n.644_645delinsGT) c.619_620delinsGT (p.Val207=) c.508_509delinsGT (p.Val170=) c.385_386delinsGT (p.Val129=) n.644_645delinsGT c.*62_*63delinsGT (n.*62_*63delinsGT) | |
| 3 | g.10149832del | CA432423338 | VHL | c.*186del (n.*186del) c.645del (n.645del) c.620del (p.Val207AlafsTer?) c.509del (p.Val170AlafsTer?) c.386del (p.Val129AlafsTer?) n.645del c.*63del (n.*63del) | dbSNP gnomAD v2 COSMIC |
| 3 | g.10149832T>A | CA351756195 | VHL | c.*186T>A (n.*186T>A) c.645T>A (n.645T>A) c.620T>A (p.Val207Asp) c.509T>A (p.Val170Asp) c.386T>A (p.Val129Asp) n.645T>A c.*63T>A (n.*63T>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149832T>C | CA279950 | VHL | c.*186T>C (n.*186T>C) c.645T>C (n.645T>C) c.620T>C (p.Val207Ala) c.509T>C (p.Val170Ala) c.386T>C (p.Val129Ala) n.645T>C c.*63T>C (n.*63T>C) | ClinVar dbSNP COSMIC |