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.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_10146524del | CA645524876 | VHL | c.*19_*28del c.600-3272_600-3263del (n.600-3272_600-3263del) c.342_351del c.341-3272_341-3263del (n.341-3272_341-3263del) n.478_487del c.*18-3272_*18-3263del (n.*18-3272_*18-3263del) | COSMIC |
| 3 | g.10146513_10146530dup | CA645524875 | VHL | c.*18-1_*34dup c.600-3274_600-3257dup (n.600-3274_600-3257dup) c.341-1_357dup c.341-3274_341-3257dup (n.341-3274_341-3257dup) n.477-1_493dup c.*18-3274_*18-3257dup (n.*18-3274_*18-3257dup) | COSMIC |
| 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.10146514_10146525del | CA645524878 | VHL | c.*18_*29del (n.*18_*29del) c.600-3273_600-3262del (n.600-3273_600-3262del) c.341_352del (p.Gly114_Leu118delinsVal) c.341-3273_341-3262del (n.341-3273_341-3262del) n.477_488del c.*18-3273_*18-3262del (n.*18-3273_*18-3262del) | 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.10146523_10146529del | CA645524884 | VHL | c.*27_*33del (n.*27_*33del) c.600-3264_600-3258del (n.600-3264_600-3258del) c.350_356del (p.Trp117SerfsTer?) c.341-3264_341-3258del (n.341-3264_341-3258del) n.486_492del c.*18-3264_*18-3258del (n.*18-3264_*18-3258del) | COSMIC |
| 3 | g.10146522_10146523delinsTG | CA1345069737 | VHL | c.*26_*27delinsTG (n.*26_*27delinsTG) c.600-3265_600-3264delinsTG (n.600-3265_600-3264delinsTG) c.349_350delinsTG (p.Trp117=) c.341-3265_341-3264delinsTG (n.341-3265_341-3264delinsTG) n.485_486delinsTG c.*18-3265_*18-3264delinsTG (n.*18-3265_*18-3264delinsTG) | |
| 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.10146523G>A | CA351753668 | VHL | c.*27G>A (n.*27G>A) c.600-3264G>A (n.600-3264G>A) c.350G>A (p.Trp117Ter) c.341-3264G>A (n.341-3264G>A) n.486G>A c.*18-3264G>A (n.*18-3264G>A) | ClinVar dbSNP COSMIC |
| 3 | g.10146523G>C | CA351753671 | VHL | c.*27G>C (n.*27G>C) c.600-3264G>C (n.600-3264G>C) c.350G>C (p.Trp117Ser) c.341-3264G>C (n.341-3264G>C) n.486G>C c.*18-3264G>C (n.*18-3264G>C) | ClinVar dbSNP COSMIC |
| 3 | g.10146523G= | CA1345069739 | VHL | c.*27G= (n.*27G=) c.600-3264G= (n.600-3264G=) c.350G= (p.Trp117=) c.341-3264G= (n.341-3264G=) n.486G= c.*18-3264G= (n.*18-3264G=) | |
| 3 | g.10146523G>T | CA351753673 | VHL | c.*27G>T (n.*27G>T) c.600-3264G>T (n.600-3264G>T) c.350G>T (p.Trp117Leu) c.341-3264G>T (n.341-3264G>T) n.486G>T c.*18-3264G>T (n.*18-3264G>T) | dbSNP COSMIC |
| 3 | g.10146524dup | CA432421792 | VHL | c.*28dup (n.*28dup) c.600-3263dup (n.600-3263dup) c.351dup (p.Leu118AlafsTer14) c.341-3263dup (n.341-3263dup) n.487dup c.*18-3263dup (n.*18-3263dup) | COSMIC |
| 3 | g.10146524del | CA357005 | VHL | c.*28del (n.*28del) c.600-3263del (n.600-3263del) c.351del (p.Trp117CysfsTer?) c.341-3263del (n.341-3263del) n.487del c.*18-3263del (n.*18-3263del) | ClinVar dbSNP 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.10146524G>A | CA351753679 | VHL | c.*28G>A (n.*28G>A) c.600-3263G>A (n.600-3263G>A) c.351G>A (p.Trp117Ter) c.341-3263G>A (n.341-3263G>A) n.487G>A c.*18-3263G>A (n.*18-3263G>A) | ClinVar dbSNP gnomAD v2 COSMIC |
| 3 | g.10146524G>C | CA351753681 | VHL | c.*28G>C (n.*28G>C) c.600-3263G>C (n.600-3263G>C) c.351G>C (p.Trp117Cys) c.341-3263G>C (n.341-3263G>C) n.487G>C c.*18-3263G>C (n.*18-3263G>C) | COSMIC |
| 3 | g.10146524G= | CA1345069740 | VHL | c.*28G= (n.*28G=) c.600-3263G= (n.600-3263G=) c.351G= (p.Trp117=) c.341-3263G= (n.341-3263G=) n.487G= c.*18-3263G= (n.*18-3263G=) | |
| 3 | g.10146524G>T | CA020294 | VHL | c.*28G>T (n.*28G>T) c.600-3263G>T (n.600-3263G>T) c.351G>T (p.Trp117Cys) c.341-3263G>T (n.341-3263G>T) n.487G>T c.*18-3263G>T (n.*18-3263G>T) | ClinVar dbSNP COSMIC |
| 3 | g.10146525C>A | CA351753686 | VHL | c.*29C>A (n.*29C>A) c.600-3262C>A (n.600-3262C>A) c.352C>A (p.Leu118Ile) c.341-3262C>A (n.341-3262C>A) n.488C>A c.*18-3262C>A (n.*18-3262C>A) | dbSNP |
| 3 | g.10146525C= | CA1345069741 | VHL | c.*29C= (n.*29C=) c.600-3262C= (n.600-3262C=) c.352C= (p.Leu118=) c.341-3262C= (n.341-3262C=) n.488C= c.*18-3262C= (n.*18-3262C=) | |
| 3 | g.10146525C>G | CA351753689 | VHL | c.*29C>G (n.*29C>G) c.600-3262C>G (n.600-3262C>G) c.352C>G (p.Leu118Val) c.341-3262C>G (n.341-3262C>G) n.488C>G c.*18-3262C>G (n.*18-3262C>G) | dbSNP |