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_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.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.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 |
| 3 | g.10149792_10149800del | CA645525038 | VHL | c.*146_*154del (n.*146_*154del) c.605_613del (n.605_613del) c.580_588del (p.Thr194_Lys196del) c.469_477del (p.Thr157_Lys159del) c.346_354del (p.Thr116_Lys118del) n.605_613del c.*23_*31del (n.*23_*31del) | COSMIC |
| 3 | g.10149792_10149800delinsT | CA645525040 | VHL | c.*146_*154delinsT (n.*146_*154delinsT) c.605_613delinsT (n.605_613delinsT) c.580_588delinsT (p.Thr194Ter) c.469_477delinsT (p.Thr157Ter) c.346_354delinsT (p.Thr116Ter) n.605_613delinsT c.*23_*31delinsT (n.*23_*31delinsT) | COSMIC |
| 3 | g.10149793_10149800del | CA645525039 | VHL | c.*147_*154del (n.*147_*154del) c.606_613del (n.606_613del) c.581_588del (p.Thr194ArgfsTer14) c.470_477del (p.Thr157ArgfsTer14) c.347_354del (p.Thr116ArgfsTer14) n.606_613del c.*24_*31del (n.*24_*31del) | COSMIC |
| 3 | g.10149793_10149799delinsT | CA645525041 | VHL | c.*147_*153delinsT (n.*147_*153delinsT) c.606_612delinsT (n.606_612delinsT) c.581_587delinsT (p.Thr194_Lys196delinsIle) c.470_476delinsT (p.Thr157_Lys159delinsIle) c.347_353delinsT (p.Thr116_Lys118delinsIle) n.606_612delinsT c.*24_*30delinsT (n.*24_*30delinsT) | COSMIC |
| 3 | g.10149796_10149821dup | CA645525044 | VHL | c.*150_*175dup (n.*150_*175dup) c.609_634dup (n.609_634dup) c.584_609dup (p.Arg204Ter) c.473_498dup (p.Arg167Ter) c.350_375dup (p.Arg126Ter) n.609_634dup c.*27_*52dup (n.*27_*52dup) | COSMIC |
| 3 | g.10149795_10149800del | CA645525045 | VHL | c.*149_*154del (n.*149_*154del) c.608_613del (n.608_613del) c.583_588del (p.Leu195_Lys196del) c.472_477del (p.Leu158_Lys159del) c.349_354del (p.Leu117_Lys118del) n.608_613del c.*26_*31del (n.*26_*31del) | COSMIC |
| 3 | g.10149795_10149813del | CA645525046 | VHL | c.*149_*167del (n.*149_*167del) c.608_626del (n.608_626del) c.583_601del (p.Leu195ArgfsTer6) c.472_490del (p.Leu158ArgfsTer6) c.349_367del (p.Leu117ArgfsTer6) n.608_626del c.*26_*44del (n.*26_*44del) | COSMIC |
| 3 | g.10149796_10149799delinsTGAA | CA1345062171 | VHL | c.*150_*153delinsTGAA (n.*150_*153delinsTGAA) c.609_612delinsTGAA (n.609_612delinsTGAA) c.584_587delinsTGAA (p.Leu195=) c.473_476delinsTGAA (p.Leu158=) c.350_353delinsTGAA (p.Leu117=) n.609_612delinsTGAA c.*27_*30delinsTGAA (n.*27_*30delinsTGAA) | |
| 3 | g.10149797_10149799delinsC | CA658683298 | VHL | c.*151_*153delinsC (n.*151_*153delinsC) c.610_612delinsC (n.610_612delinsC) c.585_587delinsC (p.Lys196ArgfsTer14) c.474_476delinsC (p.Lys159ArgfsTer14) c.351_353delinsC (p.Lys118ArgfsTer14) n.610_612delinsC c.*28_*30delinsC (n.*28_*30delinsC) | ClinVar dbSNP |
| 3 | g.10149799_10149802del | CA645525049 | VHL | c.*153_*156del (n.*153_*156del) c.612_615del (n.612_615del) c.587_590del (p.Lys196SerfsTer10) c.476_479del (p.Lys159SerfsTer10) c.353_356del (p.Lys118SerfsTer10) n.612_615del c.*30_*33del (n.*30_*33del) | COSMIC |
| 3 | g.10149798_10149816del | CA2586965661 | VHL | c.*152_*170del (n.*152_*170del) c.611_629del (n.611_629del) c.586_604del (p.Lys196LeufsTer5) c.475_493del (p.Lys159LeufsTer5) c.352_370del (p.Lys118LeufsTer5) n.611_629del c.*29_*47del (n.*29_*47del) | |
| 3 | g.10149800dup | CA432423121 | VHL | c.*154dup (n.*154dup) c.613dup (n.613dup) c.588dup (p.Glu197ArgfsTer14) c.477dup (p.Glu160ArgfsTer14) c.354dup (p.Glu119ArgfsTer14) n.613dup c.*31dup (n.*31dup) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.10149800del | CA020404 | VHL | c.*154del (n.*154del) c.613del (n.613del) c.588del (p.Glu197SerfsTer10) c.477del (p.Glu160SerfsTer10) c.354del (p.Glu119SerfsTer10) n.613del c.*31del (n.*31del) | ClinVar dbSNP COSMIC |
| 3 | g.10149798_10149803delinsT | CA645525050 | VHL | c.*152_*157delinsT (n.*152_*157delinsT) c.611_616delinsT (n.611_616delinsT) c.586_591delinsT (p.Lys196SerfsTer13) c.475_480delinsT (p.Lys159SerfsTer13) c.352_357delinsT (p.Lys118SerfsTer13) n.611_616delinsT c.*29_*34delinsT (n.*29_*34delinsT) | COSMIC |
| 3 | g.10149799A>C | CA351756083 | VHL | c.*153A>C (n.*153A>C) c.612A>C (n.612A>C) c.587A>C (p.Lys196Thr) c.476A>C (p.Lys159Thr) c.353A>C (p.Lys118Thr) n.612A>C c.*30A>C (n.*30A>C) | |
| 3 | g.10149799A>G | CA351756086 | VHL | c.*153A>G (n.*153A>G) c.612A>G (n.612A>G) c.587A>G (p.Lys196Arg) c.476A>G (p.Lys159Arg) c.353A>G (p.Lys118Arg) n.612A>G c.*30A>G (n.*30A>G) | dbSNP |
| 3 | g.10149799A>T | CA351756087 | VHL | c.*153A>T (n.*153A>T) c.612A>T (n.612A>T) c.587A>T (p.Lys196Ile) c.476A>T (p.Lys159Ile) c.353A>T (p.Lys118Ile) n.612A>T c.*30A>T (n.*30A>T) | dbSNP |
| 3 | g.10149800_10149802del | CA645525051 | VHL | c.*154_*156del (n.*154_*156del) c.613_615del (n.613_615del) c.588_590del (p.Glu197del) c.477_479del (p.Glu160del) c.354_356del (p.Glu119del) n.613_615del c.*31_*33del (n.*31_*33del) | COSMIC |
| 3 | g.10149800A= | CA1345062201 | VHL | c.*154A= (n.*154A=) c.613A= (n.613A=) c.588A= (p.Lys196=) c.477A= (p.Lys159=) c.354A= (p.Lys118=) n.613A= c.*31A= (n.*31A=) | |
| 3 | g.10149800A>C | CA351756090 | VHL | c.*154A>C (n.*154A>C) c.613A>C (n.613A>C) c.588A>C (p.Lys196Asn) c.477A>C (p.Lys159Asn) c.354A>C (p.Lys118Asn) n.613A>C c.*31A>C (n.*31A>C) | |
| 3 | g.10149800A>G | CA432423129 | VHL | c.*154A>G (n.*154A>G) c.613A>G (n.613A>G) c.588A>G (p.Lys196=) c.477A>G (p.Lys159=) c.354A>G (p.Lys118=) n.613A>G c.*31A>G (n.*31A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149800A>T | CA351756088 | VHL | c.*154A>T (n.*154A>T) c.613A>T (n.613A>T) c.588A>T (p.Lys196Asn) c.477A>T (p.Lys159Asn) c.354A>T (p.Lys118Asn) n.613A>T c.*31A>T (n.*31A>T) | dbSNP COSMIC |
| 3 | g.10149800_10149801insCA | CA645525053 | VHL | c.*154_*155insCA (n.*154_*155insCA) c.613_614insCA (n.613_614insCA) c.588_589insCA (p.Glu197GlnfsTer11) c.477_478insCA (p.Glu160GlnfsTer11) c.354_355insCA (p.Glu119GlnfsTer11) n.613_614insCA c.*31_*32insCA (n.*31_*32insCA) | COSMIC |
| 3 | g.10149800_10149801insTCA | CA2740090900 | VHL | c.*154_*155insTCA (n.*154_*155insTCA) c.613_614insTCA (n.613_614insTCA) c.588_589insTCA (p.Lys196_Glu197insSer) c.477_478insTCA (p.Lys159_Glu160insSer) c.354_355insTCA (p.Lys118_Glu119insSer) n.613_614insTCA c.*31_*32insTCA (n.*31_*32insTCA) | ClinVar |
| 3 | g.10149802_10149803dup | CA645525052 | VHL | c.*156_*157dup (n.*156_*157dup) c.615_616dup (n.615_616dup) c.590_591dup (p.Arg198SerfsTer10) c.479_480dup (p.Arg161SerfsTer10) c.356_357dup (p.Arg120SerfsTer10) n.615_616dup c.*33_*34dup (n.*33_*34dup) | COSMIC |
| 3 | g.10149802_10149803del | CA16621940 | VHL | c.*156_*157del (n.*156_*157del) c.615_616del (n.615_616del) c.590_591del (p.Glu197AlafsTer13) c.479_480del (p.Glu160AlafsTer13) c.356_357del (p.Glu119AlafsTer13) n.615_616del c.*33_*34del (n.*33_*34del) | |
| 3 | g.10149801G>A | CA351756092 | VHL | c.*155G>A (n.*155G>A) c.614G>A (n.614G>A) c.589G>A (p.Glu197Lys) c.478G>A (p.Glu160Lys) c.355G>A (p.Glu119Lys) n.614G>A c.*32G>A (n.*32G>A) | ClinVar dbSNP COSMIC |
| 3 | g.10149801G>C | CA351756093 | VHL | c.*155G>C (n.*155G>C) c.614G>C (n.614G>C) c.589G>C (p.Glu197Gln) c.478G>C (p.Glu160Gln) c.355G>C (p.Glu119Gln) n.614G>C c.*32G>C (n.*32G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.10149801G= | CA1345062206 | VHL | c.*155G= (n.*155G=) c.614G= (n.614G=) c.589G= (p.Glu197=) c.478G= (p.Glu160=) c.355G= (p.Glu119=) n.614G= c.*32G= (n.*32G=) | |
| 3 | g.10149801G>T | CA351756095 | VHL | c.*155G>T (n.*155G>T) c.614G>T (n.614G>T) c.589G>T (p.Glu197Ter) c.478G>T (p.Glu160Ter) c.355G>T (p.Glu119Ter) n.614G>T c.*32G>T (n.*32G>T) | dbSNP COSMIC |
| 3 | g.10149801delinsTC | CA645525055 | VHL | c.*155delinsTC (n.*155delinsTC) c.614delinsTC (n.614delinsTC) c.589delinsTC (p.Glu197SerfsTer14) c.478delinsTC (p.Glu160SerfsTer14) c.355delinsTC (p.Glu119SerfsTer14) n.614delinsTC c.*32delinsTC (n.*32delinsTC) | COSMIC |