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.150947163_150948277del | CA1139660328 | KCNH2 | n.3525+167_3986-109del c.2692+167_3153-109del c.1672+167_2133-109del c.2392+167_2853-109del c.2542+167_3003-109del c.2515+167_2976-109del | ClinVar |
| 7 | g.150947355_150947377del | CA2695208777 | KCNH2 | n.3936_3958del c.3103_3125del (p.Arg1035GlyfsTer?) c.2083_2105del (p.Arg695GlyfsTer?) c.2803_2825del (p.Arg935GlyfsTer?) c.2953_2975del (p.Arg985GlyfsTer?) c.2926_2948del (p.Arg976GlyfsTer?) | |
| 7 | g.150947357_150947402del | CA2695208778 | KCNH2 | n.3912_3957del c.3079_3124del (p.Leu1027TrpfsTer15) c.2059_2104del (p.Leu687TrpfsTer15) c.2779_2824del (p.Leu927TrpfsTer15) c.2929_2974del (p.Leu977TrpfsTer15) c.2902_2947del (p.Leu968TrpfsTer15) | |
| 7 | g.150947358_150947377delinsTGGA | CA2695208779 | KCNH2 | n.3936_3955delinsTCCA c.3103_3122delinsTCCA (p.Arg1035SerfsTer17) c.2083_2102delinsTCCA (p.Arg695SerfsTer17) c.2803_2822delinsTCCA (p.Arg935SerfsTer17) c.2953_2972delinsTCCA (p.Arg985SerfsTer17) c.2926_2945delinsTCCA (p.Arg976SerfsTer17) | |
| 7 | g.150947360_150947377delinsCCGCCGACCC | CA2580614279 | KCNH2 | n.3936_3953delinsGGGTCGGCGG c.3103_3120delinsGGGTCGGCGG (p.Arg1035GlyfsTer?) c.2083_2100delinsGGGTCGGCGG (p.Arg695GlyfsTer?) c.2803_2820delinsGGGTCGGCGG (p.Arg935GlyfsTer?) c.2953_2970delinsGGGTCGGCGG (p.Arg985GlyfsTer?) c.2926_2943delinsGGGTCGGCGG (p.Arg976GlyfsTer?) | ClinVar |
| 7 | g.150947367_150947381delinsACGTCGCCCCGGGGC | CA1752428508 | KCNH2 | n.3932_3946delinsGCCCCGGGGCGACGT c.3099_3113delinsGCCCCGGGGCGACGT (p.Arg1033=) c.2079_2093delinsGCCCCGGGGCGACGT (p.Arg693=) c.2799_2813delinsGCCCCGGGGCGACGT (p.Arg933=) c.2949_2963delinsGCCCCGGGGCGACGT (p.Arg983=) c.2922_2936delinsGCCCCGGGGCGACGT (p.Arg974=) | |
| 7 | g.150947369_150947388del | CA2695208780 | KCNH2 | n.3927_3946del c.3094_3113del (p.Arg1032GlyfsTer?) c.2074_2093del (p.Arg692GlyfsTer?) c.2794_2813del (p.Arg932GlyfsTer?) c.2944_2963del (p.Arg982GlyfsTer?) c.2917_2936del (p.Arg973GlyfsTer?) | |
| 7 | g.150947370_150947377dup | CA305338 | KCNH2 | n.3938_3945dup c.3105_3112dup (p.Val1038GlyfsTer22) c.2085_2092dup (p.Val698GlyfsTer22) c.2805_2812dup (p.Val938GlyfsTer22) c.2955_2962dup (p.Val988GlyfsTer22) c.2928_2935dup (p.Val979GlyfsTer22) | ClinVar dbSNP |
| 7 | g.150947370_150947383dup | CA2685601816 | KCNH2 | n.3932_3945dup c.3099_3112dup (p.Val1038GlyfsTer24) c.2079_2092dup (p.Val698GlyfsTer24) c.2799_2812dup (p.Val938GlyfsTer24) c.2949_2962dup (p.Val988GlyfsTer24) c.2922_2935dup (p.Val979GlyfsTer24) | gnomAD v4 |
| 7 | g.150947370_150947383del | CA16618397 | KCNH2 | n.3932_3945del c.3099_3112del (p.Pro1034GlyfsTer?) c.2079_2092del (p.Pro694GlyfsTer?) c.2799_2812del (p.Pro934GlyfsTer?) c.2949_2962del (p.Pro984GlyfsTer?) c.2922_2935del (p.Pro975GlyfsTer?) | ClinVar dbSNP |
| 7 | g.150947370_150947386del | CA658761307 | KCNH2 | n.3929_3945del c.3096_3112del (p.Arg1033GlyfsTer?) c.2076_2092del (p.Arg693GlyfsTer?) c.2796_2812del (p.Arg933GlyfsTer?) c.2946_2962del (p.Arg983GlyfsTer?) c.2919_2935del (p.Arg974GlyfsTer?) | |
| 7 | g.150947368_150947403del | CA2685601817 | KCNH2 | n.3910_3945del c.3077_3112del (p.Pro1026_Val1038delinsLeu) c.2057_2092del (p.Pro686_Val698delinsLeu) c.2777_2812del (p.Pro926_Val938delinsLeu) c.2927_2962del (p.Pro976_Val988delinsLeu) c.2900_2935del (p.Pro967_Val979delinsLeu) | dbSNP gnomAD v4 |
| 7 | g.150947370_150947379del | CA2695208782 | KCNH2 | n.3935_3944del c.3102_3111del (p.Arg1035TrpfsTer19) c.2082_2091del (p.Arg695TrpfsTer19) c.2802_2811del (p.Arg935TrpfsTer19) c.2952_2961del (p.Arg985TrpfsTer19) c.2925_2934del (p.Arg976TrpfsTer19) | |
| 7 | g.150947370_150947381delinsTCGCCCCGGGGC | CA1752428556 | KCNH2 | n.3932_3943delinsGCCCCGGGGCGA c.3099_3110delinsGCCCCGGGGCGA (p.Arg1033=) c.2079_2090delinsGCCCCGGGGCGA (p.Arg693=) c.2799_2810delinsGCCCCGGGGCGA (p.Arg933=) c.2949_2960delinsGCCCCGGGGCGA (p.Arg983=) c.2922_2933delinsGCCCCGGGGCGA (p.Arg974=) | |
| 7 | g.150947373_150947377dup | CA2573141844 | KCNH2 | n.3938_3942dup c.3105_3109dup (p.Asp1037GlyfsTer22) c.2085_2089dup (p.Asp697GlyfsTer22) c.2805_2809dup (p.Asp937GlyfsTer22) c.2955_2959dup (p.Asp987GlyfsTer22) c.2928_2932dup (p.Asp978GlyfsTer22) | ClinVar dbSNP |
| 7 | g.150947375_150947385dup | CA16612298 | KCNH2 | n.3932_3942dup c.3099_3109dup (p.Asp1037GlyfsTer24) c.2079_2089dup (p.Asp697GlyfsTer24) c.2799_2809dup (p.Asp937GlyfsTer24) c.2949_2959dup (p.Asp987GlyfsTer24) c.2922_2932dup (p.Asp978GlyfsTer24) | ClinVar dbSNP |
| 7 | g.150947375_150947385del | CA007922 | KCNH2 | n.3932_3942del c.3099_3109del (p.Pro1034ArgfsTer?) c.2079_2089del (p.Pro694ArgfsTer?) c.2799_2809del (p.Pro934ArgfsTer?) c.2949_2959del (p.Pro984ArgfsTer?) c.2922_2932del (p.Pro975ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150947373_150947386del | CA2579062673 | KCNH2 | n.3929_3942del c.3096_3109del (p.Pro1034GlyfsTer?) c.2076_2089del (p.Pro694GlyfsTer?) c.2796_2809del (p.Pro934GlyfsTer?) c.2946_2959del (p.Pro984GlyfsTer?) c.2919_2932del (p.Pro975GlyfsTer?) | |
| 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.150947372_150947380delinsGCCCCGGGG | CA1752428579 | KCNH2 | n.3933_3941delinsCCCCGGGGC c.3100_3108delinsCCCCGGGGC (p.Pro1034=) c.2080_2088delinsCCCCGGGGC (p.Pro694=) c.2800_2808delinsCCCCGGGGC (p.Pro934=) c.2950_2958delinsCCCCGGGGC (p.Pro984=) c.2923_2931delinsCCCCGGGGC (p.Pro975=) | |
| 7 | g.150947375_150947382del | CA2499218782 | KCNH2 | n.3934_3941del c.3101_3108del (p.Pro1034ArgfsTer?) c.2081_2088del (p.Pro694ArgfsTer?) c.2801_2808del (p.Pro934ArgfsTer?) c.2951_2958del (p.Pro984ArgfsTer?) c.2924_2931del (p.Pro975ArgfsTer?) | ClinVar dbSNP |
| 7 | g.150947373_150947380delinsGCC | CA1139660330 | KCNH2 | n.3933_3940delinsGGC c.3100_3107delinsGGC (p.Pro1034GlyfsTer?) c.2080_2087delinsGGC (p.Pro694GlyfsTer?) c.2800_2807delinsGGC (p.Pro934GlyfsTer?) c.2950_2957delinsGGC (p.Pro984GlyfsTer?) c.2923_2930delinsGGC (p.Pro975GlyfsTer?) | ClinVar dbSNP |
| 7 | g.150947373_150947385dup | CA658797028 | KCNH2 | n.3928_3940dup c.3095_3107dup (p.Asp1037AlafsTer?) c.2075_2087dup (p.Asp697AlafsTer?) c.2795_2807dup (p.Asp937AlafsTer?) c.2945_2957dup (p.Asp987AlafsTer?) c.2918_2930dup (p.Asp978AlafsTer?) | ClinVar dbSNP |
| 7 | g.150947373_150947387delinsCCCCGGGGCCGCCGA | CA1752428603 | KCNH2 | n.3926_3940delinsTCGGCGGCCCCGGGG c.3093_3107delinsTCGGCGGCCCCGGGG (p.Gly1031=) c.2073_2087delinsTCGGCGGCCCCGGGG (p.Gly691=) c.2793_2807delinsTCGGCGGCCCCGGGG (p.Gly931=) c.2943_2957delinsTCGGCGGCCCCGGGG (p.Gly981=) c.2916_2930delinsTCGGCGGCCCCGGGG (p.Gly972=) | |
| 7 | g.150947376_150947382dup | CA658656011 | KCNH2 | n.3933_3939dup c.3100_3106dup (p.Gly1036AlafsTer?) c.2080_2086dup (p.Gly696AlafsTer?) c.2800_2806dup (p.Gly936AlafsTer?) c.2950_2956dup (p.Gly986AlafsTer?) c.2923_2929dup (p.Gly977AlafsTer?) | ClinVar dbSNP |
| 7 | g.150947376_150947385dup | CA2499218783 | KCNH2 | n.3930_3939dup c.3097_3106dup (p.Gly1036AlafsTer?) c.2077_2086dup (p.Gly696AlafsTer?) c.2797_2806dup (p.Gly936AlafsTer?) c.2947_2956dup (p.Gly986AlafsTer?) c.2920_2929dup (p.Gly977AlafsTer?) | ClinVar dbSNP |
| 7 | g.150947380_150947393del | CA658761310 | KCNH2 | n.3926_3939del c.3093_3106del (p.Pro1034GlyfsTer?) c.2073_2086del (p.Pro694GlyfsTer?) c.2793_2806del (p.Pro934GlyfsTer?) c.2943_2956del (p.Pro984GlyfsTer?) c.2916_2929del (p.Pro975GlyfsTer?) | ClinVar dbSNP |
| 7 | g.150947378_150947386dup | CA2685601852 | KCNH2 | n.3930_3938dup c.3097_3105dup (p.Arg1035_Gly1036insArgProArg) c.2077_2085dup (p.Arg695_Gly696insArgProArg) c.2797_2805dup (p.Arg935_Gly936insArgProArg) c.2947_2955dup (p.Arg985_Gly986insArgProArg) c.2920_2928dup (p.Arg976_Gly977insArgProArg) | gnomAD v4 |
| 7 | g.150947375_150947388delinsGA | CA2580077706 | KCNH2 | n.3925_3938delinsTC c.3092_3105delinsTC (p.Gly1031_Arg1035delinsVal) c.2072_2085delinsTC (p.Gly691_Arg695delinsVal) c.2792_2805delinsTC (p.Gly931_Arg935delinsVal) c.2942_2955delinsTC (p.Gly981_Arg985delinsVal) c.2915_2928delinsTC (p.Gly972_Arg976delinsVal) | ClinVar |
| 7 | g.150947376_150947377delinsCG | CA1752428649 | KCNH2 | n.3936_3937delinsCG c.3103_3104delinsCG (p.Arg1035=) c.2083_2084delinsCG (p.Arg695=) c.2803_2804delinsCG (p.Arg935=) c.2953_2954delinsCG (p.Arg985=) c.2926_2927delinsCG (p.Arg976=) | |
| 7 | g.150947377G>A | CA007929 | KCNH2 | n.3936C>T c.3103C>T (p.Arg1035Trp) c.2083C>T (p.Arg695Trp) c.2803C>T (p.Arg935Trp) c.2953C>T (p.Arg985Trp) c.2926C>T (p.Arg976Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.150947377G>C | CA369852644 | KCNH2 | n.3936C>G c.3103C>G (p.Arg1035Gly) c.2083C>G (p.Arg695Gly) c.2803C>G (p.Arg935Gly) c.2953C>G (p.Arg985Gly) c.2926C>G (p.Arg976Gly) | gnomAD v4 |
| 7 | g.150947377G= | CA1752428660 | KCNH2 | n.3936C= c.3103C= (p.Arg1035=) c.2083C= (p.Arg695=) c.2803C= (p.Arg935=) c.2953C= (p.Arg985=) c.2926C= (p.Arg976=) | |
| 7 | g.150947377G>T | CA037022 | KCNH2 | n.3936C>A c.3103C>A (p.Arg1035=) c.2083C>A (p.Arg695=) c.2803C>A (p.Arg935=) c.2953C>A (p.Arg985=) c.2926C>A (p.Arg976=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150947380dup | CA916080374 | KCNH2 | n.3936dup c.3103dup (p.Arg1035ProfsTer?) c.2083dup (p.Arg695ProfsTer?) c.2803dup (p.Arg935ProfsTer?) c.2953dup (p.Arg985ProfsTer?) c.2926dup (p.Arg976ProfsTer?) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947379_150947380dup | CA2573332602 | KCNH2 | n.3935_3936dup c.3102_3103dup (p.Arg1035ProfsTer23) c.2082_2083dup (p.Arg695ProfsTer23) c.2802_2803dup (p.Arg935ProfsTer23) c.2952_2953dup (p.Arg985ProfsTer23) c.2925_2926dup (p.Arg976ProfsTer23) | |
| 7 | g.150947377_150947380dup | CA2580077707 | KCNH2 | n.3933_3936dup c.3100_3103dup (p.Arg1035ProfsTer?) c.2080_2083dup (p.Arg695ProfsTer?) c.2800_2803dup (p.Arg935ProfsTer?) c.2950_2953dup (p.Arg985ProfsTer?) c.2923_2926dup (p.Arg976ProfsTer?) | ClinVar |
| 7 | g.150947380del | CA007936 | KCNH2 | n.3936del c.3103del (p.Arg1035GlyfsTer22) c.2083del (p.Arg695GlyfsTer22) c.2803del (p.Arg935GlyfsTer22) c.2953del (p.Arg985GlyfsTer22) c.2926del (p.Arg976GlyfsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947379_150947380del | CA2695208785 | KCNH2 | n.3935_3936del c.3102_3103del (p.Arg1035GlyfsTer?) c.2082_2083del (p.Arg695GlyfsTer?) c.2802_2803del (p.Arg935GlyfsTer?) c.2952_2953del (p.Arg985GlyfsTer?) c.2925_2926del (p.Arg976GlyfsTer?) | |
| 7 | g.150947377_150947382delinsGGGGCC | CA1752428662 | KCNH2 | n.3931_3936delinsGGCCCC c.3098_3103delinsGGCCCC (p.Arg1033=) c.2078_2083delinsGGCCCC (p.Arg693=) c.2798_2803delinsGGCCCC (p.Arg933=) c.2948_2953delinsGGCCCC (p.Arg983=) c.2921_2926delinsGGCCCC (p.Arg974=) | |
| 7 | g.150947377_150947390delinsGGGGCCGCCGACCC | CA1752428663 | KCNH2 | n.3923_3936delinsGGGTCGGCGGCCCC c.3090_3103delinsGGGTCGGCGGCCCC (p.Pro1030=) c.2070_2083delinsGGGTCGGCGGCCCC (p.Pro690=) c.2790_2803delinsGGGTCGGCGGCCCC (p.Pro930=) c.2940_2953delinsGGGTCGGCGGCCCC (p.Pro980=) c.2913_2926delinsGGGTCGGCGGCCCC (p.Pro971=) | |
| 7 | g.150947377_150947378insC | CA2695208786 | KCNH2 | n.3935_3936insG c.3102_3103insG (p.Arg1035AlafsTer?) c.2082_2083insG (p.Arg695AlafsTer?) c.2802_2803insG (p.Arg935AlafsTer?) c.2952_2953insG (p.Arg985AlafsTer?) c.2925_2926insG (p.Arg976AlafsTer?) | |
| 7 | g.150947378G>A | CA458644838 | KCNH2 | n.3935C>T c.3102C>T (p.Pro1034=) c.2082C>T (p.Pro694=) c.2802C>T (p.Pro934=) c.2952C>T (p.Pro984=) c.2925C>T (p.Pro975=) | gnomAD v4 |
| 7 | g.150947378G>C | CA458644839 | KCNH2 | n.3935C>G c.3102C>G (p.Pro1034=) c.2082C>G (p.Pro694=) c.2802C>G (p.Pro934=) c.2952C>G (p.Pro984=) c.2925C>G (p.Pro975=) | |
| 7 | g.150947378G>T | CA458644840 | KCNH2 | n.3935C>A c.3102C>A (p.Pro1034=) c.2082C>A (p.Pro694=) c.2802C>A (p.Pro934=) c.2952C>A (p.Pro984=) c.2925C>A (p.Pro975=) | gnomAD v4 |
| 7 | g.150947378_150947381dup | CA915945568 | KCNH2 | n.3932_3935dup c.3099_3102dup (p.Arg1035AlafsTer?) c.2079_2082dup (p.Arg695AlafsTer?) c.2799_2802dup (p.Arg935AlafsTer?) c.2949_2952dup (p.Arg985AlafsTer?) c.2922_2925dup (p.Arg976AlafsTer?) | ClinVar dbSNP |
| 7 | g.150947379_150947383del | CA579075356 | KCNH2 | n.3931_3935del c.3098_3102del (p.Arg1033ProfsTer?) c.2078_2082del (p.Arg693ProfsTer?) c.2798_2802del (p.Arg933ProfsTer?) c.2948_2952del (p.Arg983ProfsTer?) c.2921_2925del (p.Arg974ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947382_150947394del | CA658760375 | KCNH2 | n.3923_3935del c.3090_3102del (p.Arg1032AlafsTer21) c.2070_2082del (p.Arg692AlafsTer21) c.2790_2802del (p.Arg932AlafsTer21) c.2940_2952del (p.Arg982AlafsTer21) c.2913_2925del (p.Arg973AlafsTer21) | ClinVar dbSNP |
| 7 | g.150947379G>A | CA369852647 | KCNH2 | n.3934C>T c.3101C>T (p.Pro1034Leu) c.2081C>T (p.Pro694Leu) c.2801C>T (p.Pro934Leu) c.2951C>T (p.Pro984Leu) c.2924C>T (p.Pro975Leu) | gnomAD v4 |
| 7 | g.150947379G>C | CA369852649 | KCNH2 | n.3934C>G c.3101C>G (p.Pro1034Arg) c.2081C>G (p.Pro694Arg) c.2801C>G (p.Pro934Arg) c.2951C>G (p.Pro984Arg) c.2924C>G (p.Pro975Arg) | gnomAD v4 |