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.10146489_10146543dup | CA040509 | VHL | c.*18-25_*47dup c.600-3298_600-3244dup (n.600-3298_600-3244dup) c.341-25_370dup c.341-3298_341-3244dup (n.341-3298_341-3244dup) n.477-25_506dup c.*18-3298_*18-3244dup (n.*18-3298_*18-3244dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.10146515_10146542del | CA645524877 | VHL | c.*19_*46del c.600-3272_600-3245del (n.600-3272_600-3245del) c.342_369del c.341-3272_341-3245del (n.341-3272_341-3245del) n.478_505del c.*18-3272_*18-3245del (n.*18-3272_*18-3245del) | COSMIC |
| 3 | g.10146516_10146568dup | CA2497030272 | VHL | c.*20_*72dup (n.*20_*72dup) c.600-3271_600-3219dup (n.600-3271_600-3219dup) c.343_395dup (p.Gln132HisfsTer?) c.343_395dup (p.Gln132HisfsTer45) c.341-3271_341-3219dup (n.341-3271_341-3219dup) n.479_531dup c.*18-3271_*18-3219dup (n.*18-3271_*18-3219dup) | |
| 3 | g.10146522_10146540del | CA645524885 | VHL | c.*26_*44del (n.*26_*44del) c.600-3265_600-3247del (n.600-3265_600-3247del) c.349_367del (p.Trp117GlyfsTer?) c.341-3265_341-3247del (n.341-3265_341-3247del) n.485_503del c.*18-3265_*18-3247del (n.*18-3265_*18-3247del) | COSMIC |
| 3 | g.10146523_10146538del | CA645524886 | VHL | c.*27_*42del (n.*27_*42del) c.600-3264_600-3249del (n.600-3264_600-3249del) c.350_365del (p.Trp117Ter) c.341-3264_341-3249del (n.341-3264_341-3249del) n.486_501del c.*18-3264_*18-3249del (n.*18-3264_*18-3249del) | COSMIC |
| 3 | g.10146526_10146541delinsC | CA645524887 | VHL | c.*30_*45delinsC (n.*30_*45delinsC) c.600-3261_600-3246delinsC (n.600-3261_600-3246delinsC) c.353_368delinsC (p.Leu118_Gly123delinsPro) c.341-3261_341-3246delinsC (n.341-3261_341-3246delinsC) n.489_504delinsC c.*18-3261_*18-3246delinsC (n.*18-3261_*18-3246delinsC) | COSMIC |
| 3 | g.10146529_10146533del | CA645524890 | VHL | c.*33_*37del (n.*33_*37del) c.600-3258_600-3254del (n.600-3258_600-3254del) c.356_360del (p.Phe119Ter) c.341-3258_341-3254del (n.341-3258_341-3254del) n.492_496del c.*18-3258_*18-3254del (n.*18-3258_*18-3254del) | COSMIC |
| 3 | g.10146530_10146534del | CA645524893 | VHL | c.*34_*38del (n.*34_*38del) c.600-3257_600-3253del (n.600-3257_600-3253del) c.357_361del (p.Phe119LeufsTer11) c.341-3257_341-3253del (n.341-3257_341-3253del) n.493_497del c.*18-3257_*18-3253del (n.*18-3257_*18-3253del) | COSMIC |
| 3 | g.10146533_10146540del | CA645524891 | VHL | c.*37_*44del (n.*37_*44del) c.600-3254_600-3247del (n.600-3254_600-3247del) c.360_367del (p.Ala122ThrfsTer7) c.341-3254_341-3247del (n.341-3254_341-3247del) n.496_503del c.*18-3254_*18-3247del (n.*18-3254_*18-3247del) | COSMIC |
| 3 | g.10146532_10146547del | CA645524892 | VHL | c.*36_*51del (n.*36_*51del) c.600-3255_600-3240del (n.600-3255_600-3240del) c.359_374del (p.Arg120ThrfsTer?) c.341-3255_341-3240del (n.341-3255_341-3240del) n.495_510del c.*18-3255_*18-3240del (n.*18-3255_*18-3240del) | COSMIC |
| 3 | g.10146534_10146535del | CA645524894 | VHL | c.*38_*39del (n.*38_*39del) c.600-3253_600-3252del (n.600-3253_600-3252del) c.361_362del (p.Asp121CysfsTer10) c.341-3253_341-3252del (n.341-3253_341-3252del) n.497_498del c.*18-3253_*18-3252del (n.*18-3253_*18-3252del) | COSMIC |
| 3 | g.10146532_10146535del | CA645524895 | VHL | c.*36_*39del (n.*36_*39del) c.600-3255_600-3252del (n.600-3255_600-3252del) c.359_362del (p.Arg120MetfsTer?) c.341-3255_341-3252del (n.341-3255_341-3252del) n.495_498del c.*18-3255_*18-3252del (n.*18-3255_*18-3252del) | COSMIC |
| 3 | g.10146533_10146537del | CA645524898 | VHL | c.*37_*41del (n.*37_*41del) c.600-3254_600-3250del (n.600-3254_600-3250del) c.360_364del (p.Arg120SerfsTer10) c.341-3254_341-3250del (n.341-3254_341-3250del) n.496_500del c.*18-3254_*18-3250del (n.*18-3254_*18-3250del) | COSMIC |
| 3 | g.10146534_10146543del | CA645524896 | VHL | c.*38_*47del (n.*38_*47del) c.600-3253_600-3244del (n.600-3253_600-3244del) c.361_370del (p.Asp121HisfsTer?) c.341-3253_341-3244del (n.341-3253_341-3244del) n.497_506del c.*18-3253_*18-3244del (n.*18-3253_*18-3244del) | COSMIC |
| 3 | g.10146533del | CA432421802 | VHL | c.*37del (n.*37del) c.600-3254del (n.600-3254del) c.360del (p.Asp121MetfsTer?) c.341-3254del (n.341-3254del) n.496del c.*18-3254del (n.*18-3254del) | COSMIC |
| 3 | g.10146533A>C | CA351753743 | VHL | c.*37A>C (n.*37A>C) c.600-3254A>C (n.600-3254A>C) c.360A>C (p.Arg120Ser) c.341-3254A>C (n.341-3254A>C) n.496A>C c.*18-3254A>C (n.*18-3254A>C) | COSMIC |
| 3 | g.10146533A>G | CA432421800 | VHL | c.*37A>G (n.*37A>G) c.600-3254A>G (n.600-3254A>G) c.360A>G (p.Arg120=) c.341-3254A>G (n.341-3254A>G) n.496A>G c.*18-3254A>G (n.*18-3254A>G) | dbSNP |
| 3 | g.10146533A>T | CA351753745 | VHL | c.*37A>T (n.*37A>T) c.600-3254A>T (n.600-3254A>T) c.360A>T (p.Arg120Ser) c.341-3254A>T (n.341-3254A>T) n.496A>T c.*18-3254A>T (n.*18-3254A>T) | dbSNP |
| 3 | g.10146533dup | CA432421801 | VHL | c.*37dup (n.*37dup) c.600-3254dup (n.600-3254dup) c.360dup (p.Asp121ArgfsTer11) c.341-3254dup (n.341-3254dup) n.496dup c.*18-3254dup (n.*18-3254dup) | COSMIC |
| 3 | g.10146533_10146535del | CA2573131861 | VHL | c.*37_*39del (n.*37_*39del) c.600-3254_600-3252del (n.600-3254_600-3252del) c.360_362del (p.Arg120_Asp121delinsSer) c.341-3254_341-3252del (n.341-3254_341-3252del) n.496_498del c.*18-3254_*18-3252del (n.*18-3254_*18-3252del) | |
| 3 | g.10146535_10146540del | CA645524899 | VHL | c.*39_*44del (n.*39_*44del) c.600-3252_600-3247del (n.600-3252_600-3247del) c.362_367del (p.Asp121_Ala122del) c.341-3252_341-3247del (n.341-3252_341-3247del) n.498_503del c.*18-3252_*18-3247del (n.*18-3252_*18-3247del) | COSMIC |
| 3 | g.10146533_10146534insT | CA645524901 | VHL | c.*37_*38insT (n.*37_*38insT) c.600-3254_600-3253insT (n.600-3254_600-3253insT) c.360_361insT (p.Asp121Ter) c.341-3254_341-3253insT (n.341-3254_341-3253insT) n.496_497insT c.*18-3254_*18-3253insT (n.*18-3254_*18-3253insT) | COSMIC |
| 3 | g.10146534del | CA432421803 | VHL | c.*38del (n.*38del) c.600-3253del (n.600-3253del) c.361del (p.Asp121MetfsTer?) c.341-3253del (n.341-3253del) n.497del c.*18-3253del (n.*18-3253del) | COSMIC |