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 |
|---|---|---|---|---|---|
| 7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
| 7 | g.150948478_150948483del | CA2685600492 | KCNH2 | n.3492_3497del c.2659_2664del (p.Arg887_Lys888del) c.1639_1644del (p.Arg547_Lys548del) c.2359_2364del (p.Arg787_Lys788del) c.2509_2514del (p.Arg837_Lys838del) c.2482_2487del (p.Arg828_Lys829del) | gnomAD v4 |
| 7 | g.150948476_150948485delinsCGCTTGCGTT | CA1752431380 | KCNH2 | n.3484_3493delinsAACGCAAGCG c.2651_2660delinsAACGCAAGCG (p.Gln884=) c.1631_1640delinsAACGCAAGCG (p.Gln544=) c.2351_2360delinsAACGCAAGCG (p.Gln784=) c.2501_2510delinsAACGCAAGCG (p.Gln834=) c.2474_2483delinsAACGCAAGCG (p.Gln825=) | |
| 7 | g.150948479_150948487del | CA033618 | KCNH2 | n.3484_3492del c.2651_2659del (p.Gln884_Lys886del) c.1631_1639del (p.Gln544_Lys546del) c.2351_2359del (p.Gln784_Lys786del) c.2501_2509del (p.Gln834_Lys836del) c.2474_2482del (p.Gln825_Lys827del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150948477_150948489del | CA2695208816 | KCNH2 | n.3480_3492del c.2647_2659del (p.Arg883AlafsTer?) c.1627_1639del (p.Arg543AlafsTer?) c.2347_2359del (p.Arg783AlafsTer?) c.2497_2509del (p.Arg833AlafsTer?) c.2470_2482del (p.Arg824AlafsTer?) | |
| 7 | g.150948478_150948483delinsCTTGCG | CA1752431389 | KCNH2 | n.3486_3491delinsCGCAAG c.2653_2658delinsCGCAAG (p.Arg885=) c.1633_1638delinsCGCAAG (p.Arg545=) c.2353_2358delinsCGCAAG (p.Arg785=) c.2503_2508delinsCGCAAG (p.Arg835=) c.2476_2481delinsCGCAAG (p.Arg826=) | |
| 7 | g.150948480_150948485dup | CA2685600497 | KCNH2 | n.3485_3490dup c.2652_2657dup (p.Lys886_Arg887insArgLys) c.1632_1637dup (p.Lys546_Arg547insArgLys) c.2352_2357dup (p.Lys786_Arg787insArgLys) c.2502_2507dup (p.Lys836_Arg837insArgLys) c.2475_2480dup (p.Lys827_Arg828insArgLys) | gnomAD v4 |
| 7 | g.150948483_150948487del | CA1139660338 | KCNH2 | n.3486_3490del c.2653_2657del (p.Arg885AlafsTer?) c.1633_1637del (p.Arg545AlafsTer?) c.2353_2357del (p.Arg785AlafsTer?) c.2503_2507del (p.Arg835AlafsTer?) c.2476_2480del (p.Arg826AlafsTer?) | ClinVar dbSNP |
| 7 | g.150948479_150948491delinsTTGCGTTGCCGAC | CA1752431396 | KCNH2 | n.3478_3490delinsGTCGGCAACGCAA c.2645_2657delinsGTCGGCAACGCAA (p.Ser882=) c.1625_1637delinsGTCGGCAACGCAA (p.Ser542=) c.2345_2357delinsGTCGGCAACGCAA (p.Ser782=) c.2495_2507delinsGTCGGCAACGCAA (p.Ser832=) c.2468_2480delinsGTCGGCAACGCAA (p.Ser823=) | |
| 7 | g.150948482_150948493del | CA1752431399 | KCNH2 | n.3478_3489del c.2645_2656del (p.Ser882_Arg885del) c.1625_1636del (p.Ser542_Arg545del) c.2345_2356del (p.Ser782_Arg785del) c.2495_2506del (p.Ser832_Arg835del) c.2468_2479del (p.Ser823_Arg826del) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948481_150948483del | CA2778425473 | KCNH2 | n.3486_3488del c.2653_2655del (p.Arg885del) c.1633_1635del (p.Arg545del) c.2353_2355del (p.Arg785del) c.2503_2505del (p.Arg835del) c.2476_2478del (p.Arg826del) | |
| 7 | g.150948482_150948485delinsAAGAG | CA916084343 | KCNH2 | n.3484_3487delinsCTCTT c.2651_2654delinsCTCTT (p.Gln884ProfsTer?) c.1631_1634delinsCTCTT (p.Gln544ProfsTer?) c.2351_2354delinsCTCTT (p.Gln784ProfsTer?) c.2501_2504delinsCTCTT (p.Gln834ProfsTer?) c.2474_2477delinsCTCTT (p.Gln825ProfsTer?) | |
| 7 | g.150948484_150948489dup | CA2685600500 | KCNH2 | n.3482_3487dup c.2649_2654dup (p.Arg885_Lys886insGlnArg) c.1629_1634dup (p.Arg545_Lys546insGlnArg) c.2349_2354dup (p.Arg785_Lys786insGlnArg) c.2499_2504dup (p.Arg835_Lys836insGlnArg) c.2472_2477dup (p.Arg826_Lys827insGlnArg) | gnomAD v4 |
| 7 | g.150948483G>A | CA007076 | KCNH2 | n.3486C>T c.2653C>T (p.Arg885Cys) c.1633C>T (p.Arg545Cys) c.2353C>T (p.Arg785Cys) c.2503C>T (p.Arg835Cys) c.2476C>T (p.Arg826Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948483G>C | CA369853728 | KCNH2 | n.3486C>G c.2653C>G (p.Arg885Gly) c.1633C>G (p.Arg545Gly) c.2353C>G (p.Arg785Gly) c.2503C>G (p.Arg835Gly) c.2476C>G (p.Arg826Gly) | |
| 7 | g.150948483G= | CA1752431413 | KCNH2 | n.3486C= c.2653C= (p.Arg885=) c.1633C= (p.Arg545=) c.2353C= (p.Arg785=) c.2503C= (p.Arg835=) c.2476C= (p.Arg826=) | |
| 7 | g.150948483G>T | CA033654 | KCNH2 | n.3486C>A c.2653C>A (p.Arg885Ser) c.1633C>A (p.Arg545Ser) c.2353C>A (p.Arg785Ser) c.2503C>A (p.Arg835Ser) c.2476C>A (p.Arg826Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948484T>A | CA369853730 | KCNH2 | n.3485A>T c.2652A>T (p.Gln884His) c.1632A>T (p.Gln544His) c.2352A>T (p.Gln784His) c.2502A>T (p.Gln834His) c.2475A>T (p.Gln825His) | |
| 7 | g.150948484T>C | CA458644991 | KCNH2 | n.3485A>G c.2652A>G (p.Gln884=) c.1632A>G (p.Gln544=) c.2352A>G (p.Gln784=) c.2502A>G (p.Gln834=) c.2475A>G (p.Gln825=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150948484T>G | CA369853731 | KCNH2 | n.3485A>C c.2652A>C (p.Gln884His) c.1632A>C (p.Gln544His) c.2352A>C (p.Gln784His) c.2502A>C (p.Gln834His) c.2475A>C (p.Gln825His) | |
| 7 | g.150948484T= | CA1752431414 | KCNH2 | n.3485A= c.2652A= (p.Gln884=) c.1632A= (p.Gln544=) c.2352A= (p.Gln784=) c.2502A= (p.Gln834=) c.2475A= (p.Gln825=) | |
| 7 | g.150948484_150948485del | CA2778425489 | KCNH2 | n.3484_3485del c.2651_2652del (p.Gln884ProfsTer?) c.1631_1632del (p.Gln544ProfsTer?) c.2351_2352del (p.Gln784ProfsTer?) c.2501_2502del (p.Gln834ProfsTer?) c.2474_2475del (p.Gln825ProfsTer?) | |
| 7 | g.150948484_150948488dup | CA2697557667 | KCNH2 | n.3481_3485dup c.2648_2652dup (p.Arg885GlyfsTer?) c.1628_1632dup (p.Arg545GlyfsTer?) c.2348_2352dup (p.Arg785GlyfsTer?) c.2498_2502dup (p.Arg835GlyfsTer?) c.2471_2475dup (p.Arg826GlyfsTer?) | ClinVar |
| 7 | g.150948485T>A | CA369853733 | KCNH2 | n.3484A>T c.2651A>T (p.Gln884Leu) c.1631A>T (p.Gln544Leu) c.2351A>T (p.Gln784Leu) c.2501A>T (p.Gln834Leu) c.2474A>T (p.Gln825Leu) | |
| 7 | g.150948485T>C | CA369853736 | KCNH2 | n.3484A>G c.2651A>G (p.Gln884Arg) c.1631A>G (p.Gln544Arg) c.2351A>G (p.Gln784Arg) c.2501A>G (p.Gln834Arg) c.2474A>G (p.Gln825Arg) | ClinVar dbSNP |
| 7 | g.150948485T>G | CA369853735 | KCNH2 | n.3484A>C c.2651A>C (p.Gln884Pro) c.1631A>C (p.Gln544Pro) c.2351A>C (p.Gln784Pro) c.2501A>C (p.Gln834Pro) c.2474A>C (p.Gln825Pro) | |
| 7 | g.150948485T= | CA1752431415 | KCNH2 | n.3484A= c.2651A= (p.Gln884=) c.1631A= (p.Gln544=) c.2351A= (p.Gln784=) c.2501A= (p.Gln834=) c.2474A= (p.Gln825=) | |
| 7 | g.150948485_150948486insAAT | CA2778425491 | KCNH2 | n.3484_3485insTTA c.2651_2652insTTA (p.Gln884HisfsTer2) c.1631_1632insTTA (p.Gln544HisfsTer2) c.2351_2352insTTA (p.Gln784HisfsTer2) c.2501_2502insTTA (p.Gln834HisfsTer2) c.2474_2475insTTA (p.Gln825HisfsTer2) | |
| 7 | g.150948486G>A | CA369853738 | KCNH2 | n.3483C>T c.2650C>T (p.Gln884Ter) c.1630C>T (p.Gln544Ter) c.2350C>T (p.Gln784Ter) c.2500C>T (p.Gln834Ter) c.2473C>T (p.Gln825Ter) | gnomAD v4 |
| 7 | g.150948486G>C | CA369853741 | KCNH2 | n.3483C>G c.2650C>G (p.Gln884Glu) c.1630C>G (p.Gln544Glu) c.2350C>G (p.Gln784Glu) c.2500C>G (p.Gln834Glu) c.2473C>G (p.Gln825Glu) | |
| 7 | g.150948486G>T | CA369853740 | KCNH2 | n.3483C>A c.2650C>A (p.Gln884Lys) c.1630C>A (p.Gln544Lys) c.2350C>A (p.Gln784Lys) c.2500C>A (p.Gln834Lys) c.2473C>A (p.Gln825Lys) | |
| 7 | g.150948486_150948487insAT | CA2778425494 | KCNH2 | n.3482_3483insAT c.2649_2650insAT (p.Gln884IlefsTer?) c.1629_1630insAT (p.Gln544IlefsTer?) c.2349_2350insAT (p.Gln784IlefsTer?) c.2499_2500insAT (p.Gln834IlefsTer?) c.2472_2473insAT (p.Gln825IlefsTer?) | |
| 7 | g.150948487C>A | CA458644993 | KCNH2 | n.3482G>T c.2649G>T (p.Arg883=) c.1629G>T (p.Arg543=) c.2349G>T (p.Arg783=) c.2499G>T (p.Arg833=) c.2472G>T (p.Arg824=) | |
| 7 | g.150948487C= | CA1752431423 | KCNH2 | n.3482G= c.2649G= (p.Arg883=) c.1629G= (p.Arg543=) c.2349G= (p.Arg783=) c.2499G= (p.Arg833=) c.2472G= (p.Arg824=) | |
| 7 | g.150948487C>G | CA458644994 | KCNH2 | n.3482G>C c.2649G>C (p.Arg883=) c.1629G>C (p.Arg543=) c.2349G>C (p.Arg783=) c.2499G>C (p.Arg833=) c.2472G>C (p.Arg824=) | |
| 7 | g.150948487C>T | CA458644995 | KCNH2 | n.3482G>A c.2649G>A (p.Arg883=) c.1629G>A (p.Arg543=) c.2349G>A (p.Arg783=) c.2499G>A (p.Arg833=) c.2472G>A (p.Arg824=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150948487_150948490delinsCCGA | CA1752431424 | KCNH2 | n.3479_3482delinsTCGG c.2646_2649delinsTCGG (p.Ser882=) c.1626_1629delinsTCGG (p.Ser542=) c.2346_2349delinsTCGG (p.Ser782=) c.2496_2499delinsTCGG (p.Ser832=) c.2469_2472delinsTCGG (p.Ser823=) | |
| 7 | g.150948488_150948498del | CA658761324 | KCNH2 | n.3472_3482del c.2639_2649del (p.Gly880AlafsTer?) c.1619_1629del (p.Gly540AlafsTer?) c.2339_2349del (p.Gly780AlafsTer?) c.2489_2499del (p.Gly830AlafsTer?) c.2462_2472del (p.Gly821AlafsTer?) | |
| 7 | g.150948488C>A | CA369853743 | KCNH2 | n.3481G>T c.2648G>T (p.Arg883Leu) c.1628G>T (p.Arg543Leu) c.2348G>T (p.Arg783Leu) c.2498G>T (p.Arg833Leu) c.2471G>T (p.Arg824Leu) | |
| 7 | g.150948488C= | CA1752431425 | KCNH2 | n.3481G= c.2648G= (p.Arg883=) c.1628G= (p.Arg543=) c.2348G= (p.Arg783=) c.2498G= (p.Arg833=) c.2471G= (p.Arg824=) | |
| 7 | g.150948488C>G | CA369853744 | KCNH2 | n.3481G>C c.2648G>C (p.Arg883Pro) c.1628G>C (p.Arg543Pro) c.2348G>C (p.Arg783Pro) c.2498G>C (p.Arg833Pro) c.2471G>C (p.Arg824Pro) | gnomAD v4 COSMIC COSMIC |
| 7 | g.150948488C>T | CA033600 | KCNH2 | n.3481G>A c.2648G>A (p.Arg883Gln) c.1628G>A (p.Arg543Gln) c.2348G>A (p.Arg783Gln) c.2498G>A (p.Arg833Gln) c.2471G>A (p.Arg824Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 7 | g.150948489_150948491del | CA1108705052 | KCNH2 | n.3479_3481del c.2646_2648del (p.Ser882del) c.1626_1628del (p.Ser542del) c.2346_2348del (p.Ser782del) c.2496_2498del (p.Ser832del) c.2469_2471del (p.Ser823del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150948489del | CA2580077780 | KCNH2 | n.3480del c.2647del (p.Arg883GlyfsTer?) c.1627del (p.Arg543GlyfsTer?) c.2347del (p.Arg783GlyfsTer?) c.2497del (p.Arg833GlyfsTer?) c.2470del (p.Arg824GlyfsTer?) | ClinVar |
| 7 | g.150948489G>A | CA033587 | KCNH2 | n.3480C>T c.2647C>T (p.Arg883Trp) c.1627C>T (p.Arg543Trp) c.2347C>T (p.Arg783Trp) c.2497C>T (p.Arg833Trp) c.2470C>T (p.Arg824Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948489G>C | CA033575 | KCNH2 | n.3480C>G c.2647C>G (p.Arg883Gly) c.1627C>G (p.Arg543Gly) c.2347C>G (p.Arg783Gly) c.2497C>G (p.Arg833Gly) c.2470C>G (p.Arg824Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948489G= | CA1752431430 | KCNH2 | n.3480C= c.2647C= (p.Arg883=) c.1627C= (p.Arg543=) c.2347C= (p.Arg783=) c.2497C= (p.Arg833=) c.2470C= (p.Arg824=) | |
| 7 | g.150948489G>T | CA458644998 | KCNH2 | n.3480C>A c.2647C>A (p.Arg883=) c.1627C>A (p.Arg543=) c.2347C>A (p.Arg783=) c.2497C>A (p.Arg833=) c.2470C>A (p.Arg824=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948489_150948490del | CA2685600508 | KCNH2 | n.3479_3480del c.2646_2647del (p.Ser882ArgfsTer?) c.1626_1627del (p.Ser542ArgfsTer?) c.2346_2347del (p.Ser782ArgfsTer?) c.2496_2497del (p.Ser832ArgfsTer?) c.2469_2470del (p.Ser823ArgfsTer?) | gnomAD v4 |
| 7 | g.150948489_150948490insGCGACC | CA2778425505 | KCNH2 | n.3479_3480insGGTCGC c.2646_2647insGGTCGC (p.Ser882_Arg883insGlyArg) c.1626_1627insGGTCGC (p.Ser542_Arg543insGlyArg) c.2346_2347insGGTCGC (p.Ser782_Arg783insGlyArg) c.2496_2497insGGTCGC (p.Ser832_Arg833insGlyArg) c.2469_2470insGGTCGC (p.Ser823_Arg824insGlyArg) |