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.10146575_10146601del | CA2573320387 | VHL | c.*79_*105del (n.*79_*105del) c.600-3212_600-3186del (n.600-3212_600-3186del) c.402_428del (p.Glu134_Val142del) c.341-3212_341-3186del (n.341-3212_341-3186del) n.538_564del c.*18-3212_*18-3186del (n.*18-3212_*18-3186del) | ClinVar |
| 3 | g.10146585_10146600del | CA645524948 | VHL | c.*89_*104del (n.*89_*104del) c.600-3202_600-3187del (n.600-3202_600-3187del) c.412_427del (p.Pro138ThrfsTer26) c.412_427del (p.Pro138ThrfsTer16) c.341-3202_341-3187del (n.341-3202_341-3187del) n.548_563del c.*18-3202_*18-3187del (n.*18-3202_*18-3187del) | COSMIC |
| 3 | g.10146585_10146598del | CA645524949 | VHL | c.*89_*102del (n.*89_*102del) c.600-3202_600-3189del (n.600-3202_600-3189del) c.412_425del (p.Pro138Ter) c.341-3202_341-3189del (n.341-3202_341-3189del) n.548_561del c.*18-3202_*18-3189del (n.*18-3202_*18-3189del) | COSMIC |
| 3 | g.10146589_10146596del | CA645524951 | VHL | c.*93_*100del (n.*93_*100del) c.600-3198_600-3191del (n.600-3198_600-3191del) c.416_423del (p.Ser139CysfsTer2) c.341-3198_341-3191del (n.341-3198_341-3191del) n.552_559del c.*18-3198_*18-3191del (n.*18-3198_*18-3191del) | COSMIC |
| 3 | g.10146589_10146613del | CA645524952 | VHL | c.*93_*117del (n.*93_*117del) c.600-3198_600-3174del (n.600-3198_600-3174del) c.416_440del (p.Ser139PhefsTer22) c.416_440del (p.Ser139PhefsTer12) c.341-3198_341-3174del (n.341-3198_341-3174del) n.552_576del c.*18-3198_*18-3174del (n.*18-3198_*18-3174del) | COSMIC |
| 3 | g.10146591_10146598del | CA645524958 | VHL | c.*95_*102del (n.*95_*102del) c.600-3196_600-3189del (n.600-3196_600-3189del) c.418_425del (p.Leu140Ter) c.341-3196_341-3189del (n.341-3196_341-3189del) n.554_561del c.*18-3196_*18-3189del (n.*18-3196_*18-3189del) | COSMIC |
| 3 | g.10146591_10146600delinsCTCAATGTTG | CA1345058714 | VHL | c.*95_*104delinsCTCAATGTTG (n.*95_*104delinsCTCAATGTTG) c.600-3196_600-3187delinsCTCAATGTTG (n.600-3196_600-3187delinsCTCAATGTTG) c.418_427delinsCTCAATGTTG (p.Leu140=) c.341-3196_341-3187delinsCTCAATGTTG (n.341-3196_341-3187delinsCTCAATGTTG) n.554_563delinsCTCAATGTTG c.*18-3196_*18-3187delinsCTCAATGTTG (n.*18-3196_*18-3187delinsCTCAATGTTG) | |
| 3 | g.10146592_10146600delinsACAATTATTTGTGCCATCTCTCAA | CA913190158 | VHL | c.*96_*104delinsACAATTATTTGTGCCATCTCTCAA (n.*96_*104delinsACAATTATTTGTGCCATCTCTCAA) c.600-3195_600-3187delinsACAATTATTTGTGCCATCTCTCAA (n.600-3195_600-3187delinsACAATTATTTGTGCCATCTCTCAA) c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn) c.341-3195_341-3187delinsACAATTATTTGTGCCATCTCTCAA (n.341-3195_341-3187delinsACAATTATTTGTGCCATCTCTCAA) n.555_563delinsACAATTATTTGTGCCATCTCTCAA c.*18-3195_*18-3187delinsACAATTATTTGTGCCATCTCTCAA (n.*18-3195_*18-3187delinsACAATTATTTGTGCCATCTCTCAA) | ClinVar dbSNP |
| 3 | g.10146594A= | CA1345058730 | VHL | c.*98A= (n.*98A=) c.600-3193A= (n.600-3193A=) c.421A= (p.Asn141=) c.341-3193A= (n.341-3193A=) n.557A= c.*18-3193A= (n.*18-3193A=) | |
| 3 | g.10146594A>C | CA351754131 | VHL | c.*98A>C (n.*98A>C) c.600-3193A>C (n.600-3193A>C) c.421A>C (p.Asn141His) c.341-3193A>C (n.341-3193A>C) n.557A>C c.*18-3193A>C (n.*18-3193A>C) | ClinVar dbSNP |
| 3 | g.10146594A>G | CA351754132 | VHL | c.*98A>G (n.*98A>G) c.600-3193A>G (n.600-3193A>G) c.421A>G (p.Asn141Asp) c.341-3193A>G (n.341-3193A>G) n.557A>G c.*18-3193A>G (n.*18-3193A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10146594A>T | CA351754135 | VHL | c.*98A>T (n.*98A>T) c.600-3193A>T (n.600-3193A>T) c.421A>T (p.Asn141Tyr) c.341-3193A>T (n.341-3193A>T) n.557A>T c.*18-3193A>T (n.*18-3193A>T) | dbSNP |
| 3 | g.10146594_10146595del | CA645524960 | VHL | c.*98_*99del (n.*98_*99del) c.600-3193_600-3192del (n.600-3193_600-3192del) c.421_422del (p.Asn141CysfsTer2) c.341-3193_341-3192del (n.341-3193_341-3192del) n.557_558del c.*18-3193_*18-3192del (n.*18-3193_*18-3192del) | COSMIC |
| 3 | g.10146595dup | CA16611276 | VHL | c.*99dup (n.*99dup) c.600-3192dup (n.600-3192dup) c.422dup (p.Asn141LysfsTer3) c.341-3192dup (n.341-3192dup) n.558dup c.*18-3192dup (n.*18-3192dup) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.10146595del | CA432421876 | VHL | c.*99del (n.*99del) c.600-3192del (n.600-3192del) c.422del (p.Asn141MetfsTer28) c.422del (p.Asn141MetfsTer18) c.341-3192del (n.341-3192del) n.558del c.*18-3192del (n.*18-3192del) | COSMIC COSMIC |
| 3 | g.10146595_10146601del | CA645524961 | VHL | c.*99_*105del (n.*99_*105del) c.600-3192_600-3186del (n.600-3192_600-3186del) c.422_428del (p.Asn141ThrfsTer26) c.422_428del (p.Asn141ThrfsTer16) c.341-3192_341-3186del (n.341-3192_341-3186del) n.558_564del c.*18-3192_*18-3186del (n.*18-3192_*18-3186del) | COSMIC COSMIC |
| 3 | g.10146594_10146595insC | CA432421877 | VHL | c.*98_*99insC (n.*98_*99insC) c.600-3193_600-3192insC (n.600-3193_600-3192insC) c.421_422insC (p.Asn141ThrfsTer3) c.341-3193_341-3192insC (n.341-3193_341-3192insC) n.557_558insC c.*18-3193_*18-3192insC (n.*18-3193_*18-3192insC) | |
| 3 | g.10146594_10146595insT | CA645524963 | VHL | c.*98_*99insT (n.*98_*99insT) c.600-3193_600-3192insT (n.600-3193_600-3192insT) c.421_422insT (p.Asn141IlefsTer3) c.341-3193_341-3192insT (n.341-3193_341-3192insT) n.557_558insT c.*18-3193_*18-3192insT (n.*18-3193_*18-3192insT) | COSMIC |
| 3 | g.10146595A= | CA1345058736 | VHL | c.*99A= (n.*99A=) c.600-3192A= (n.600-3192A=) c.422A= (p.Asn141=) c.341-3192A= (n.341-3192A=) n.558A= c.*18-3192A= (n.*18-3192A=) | |
| 3 | g.10146595A>C | CA351754139 | VHL | c.*99A>C (n.*99A>C) c.600-3192A>C (n.600-3192A>C) c.422A>C (p.Asn141Thr) c.341-3192A>C (n.341-3192A>C) n.558A>C c.*18-3192A>C (n.*18-3192A>C) | |
| 3 | g.10146595A>G | CA16617790 | VHL | c.*99A>G (n.*99A>G) c.600-3192A>G (n.600-3192A>G) c.422A>G (p.Asn141Ser) c.341-3192A>G (n.341-3192A>G) n.558A>G c.*18-3192A>G (n.*18-3192A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.10146595A>T | CA351754141 | VHL | c.*99A>T (n.*99A>T) c.600-3192A>T (n.600-3192A>T) c.422A>T (p.Asn141Ile) c.341-3192A>T (n.341-3192A>T) n.558A>T c.*18-3192A>T (n.*18-3192A>T) | dbSNP |
| 3 | g.10146595_10146596del | CA645524962 | VHL | c.*99_*100del (n.*99_*100del) c.600-3192_600-3191del (n.600-3192_600-3191del) c.422_423del (p.Asn141SerfsTer2) c.341-3192_341-3191del (n.341-3192_341-3191del) n.558_559del c.*18-3192_*18-3191del (n.*18-3192_*18-3191del) | COSMIC |