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 |
|---|---|---|---|---|---|
| 19 | g.13298779_13298788del | CA2695228297 | CACNA1A | c.2850_2859del (p.Ala951SerfsTer?) c.2856_2865del (p.Ala953SerfsTer?) c.2853_2862del (p.Ala952SerfsTer?) c.2862_2871del (p.Ala955SerfsTer?) c.2712_2721del (p.Ala905SerfsTer?) c.3048_3057del (p.Ala1017SerfsTer?) | |
| 19 | g.13298778_13298811del | CA2739291192 | CACNA1A | c.2822_2855del (p.Glu941AlafsTer?) c.2828_2861del (p.Glu943AlafsTer?) c.2825_2858del (p.Glu942AlafsTer?) c.2834_2867del (p.Glu945AlafsTer?) c.2684_2717del (p.Glu895AlafsTer?) c.3020_3053del (p.Glu1007AlafsTer?) | |
| 19 | g.13298779_13298789delinsCCGCGCCCGTG | CA2323826040 | CACNA1A | c.2844_2854delinsCACGGGCGCGG (p.Arg948=) c.2850_2860delinsCACGGGCGCGG (p.Arg950=) c.2847_2857delinsCACGGGCGCGG (p.Arg949=) c.2856_2866delinsCACGGGCGCGG (p.Arg952=) c.2706_2716delinsCACGGGCGCGG (p.Arg902=) c.3042_3052delinsCACGGGCGCGG (p.Arg1014=) | |
| 19 | g.13298784_13298793del | CA16620790 | CACNA1A | c.2844_2853del (p.Ala951SerfsTer?) c.2850_2859del (p.Ala953SerfsTer?) c.2847_2856del (p.Ala952SerfsTer?) c.2856_2865del (p.Ala955SerfsTer?) c.2706_2715del (p.Ala905SerfsTer?) c.3042_3051del (p.Ala1017SerfsTer?) | ClinVar dbSNP |
| 19 | g.13298782C>A | CA404342591 | CACNA1A | c.2851G>T (p.Ala951Ser) c.2857G>T (p.Ala953Ser) c.2854G>T (p.Ala952Ser) c.2863G>T (p.Ala955Ser) c.2713G>T (p.Ala905Ser) c.3049G>T (p.Ala1017Ser) | gnomAD v4 |
| 19 | g.13298782C>G | CA404342592 | CACNA1A | c.2851G>C (p.Ala951Pro) c.2857G>C (p.Ala953Pro) c.2854G>C (p.Ala952Pro) c.2863G>C (p.Ala955Pro) c.2713G>C (p.Ala905Pro) c.3049G>C (p.Ala1017Pro) | |
| 19 | g.13298782C>T | CA404342593 | CACNA1A | c.2851G>A (p.Ala951Thr) c.2857G>A (p.Ala953Thr) c.2854G>A (p.Ala952Thr) c.2863G>A (p.Ala955Thr) c.2713G>A (p.Ala905Thr) c.3049G>A (p.Ala1017Thr) | ClinVar gnomAD v4 |
| 19 | g.13298782_13298788delinsCGCCCGT | CA2323826049 | CACNA1A | c.2845_2851delinsACGGGCG (p.Thr949=) c.2851_2857delinsACGGGCG (p.Thr951=) c.2848_2854delinsACGGGCG (p.Thr950=) c.2857_2863delinsACGGGCG (p.Thr953=) c.2707_2713delinsACGGGCG (p.Thr903=) c.3043_3049delinsACGGGCG (p.Thr1015=) | |
| 19 | g.13298783G>A | CA505784860 | CACNA1A | c.2850C>T (p.Gly950=) c.2856C>T (p.Gly952=) c.2853C>T (p.Gly951=) c.2862C>T (p.Gly954=) c.2712C>T (p.Gly904=) c.3048C>T (p.Gly1016=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13298783G>C | CA505784861 | CACNA1A | c.2850C>G (p.Gly950=) c.2856C>G (p.Gly952=) c.2853C>G (p.Gly951=) c.2862C>G (p.Gly954=) c.2712C>G (p.Gly904=) c.3048C>G (p.Gly1016=) | gnomAD v4 |
| 19 | g.13298783G>T | CA505784862 | CACNA1A | c.2850C>A (p.Gly950=) c.2856C>A (p.Gly952=) c.2853C>A (p.Gly951=) c.2862C>A (p.Gly954=) c.2712C>A (p.Gly904=) c.3048C>A (p.Gly1016=) | gnomAD v4 |
| 19 | g.13298785_13298790del | CA632123093 | CACNA1A | c.2845_2850del (p.Thr949_Gly950del) c.2851_2856del (p.Thr951_Gly952del) c.2848_2853del (p.Thr950_Gly951del) c.2857_2862del (p.Thr953_Gly954del) c.2707_2712del (p.Thr903_Gly904del) c.3043_3048del (p.Thr1015_Gly1016del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298784C>A | CA404342595 | CACNA1A | c.2849G>T (p.Gly950Val) c.2855G>T (p.Gly952Val) c.2852G>T (p.Gly951Val) c.2861G>T (p.Gly954Val) c.2711G>T (p.Gly904Val) c.3047G>T (p.Gly1016Val) | gnomAD v4 |
| 19 | g.13298784C>G | CA404342596 | CACNA1A | c.2849G>C (p.Gly950Ala) c.2855G>C (p.Gly952Ala) c.2852G>C (p.Gly951Ala) c.2861G>C (p.Gly954Ala) c.2711G>C (p.Gly904Ala) c.3047G>C (p.Gly1016Ala) | |
| 19 | g.13298784C>T | CA404342594 | CACNA1A | c.2849G>A (p.Gly950Asp) c.2855G>A (p.Gly952Asp) c.2852G>A (p.Gly951Asp) c.2861G>A (p.Gly954Asp) c.2711G>A (p.Gly904Asp) c.3047G>A (p.Gly1016Asp) | gnomAD v4 |
| 19 | g.13298785C>A | CA404342597 | CACNA1A | c.2848G>T (p.Gly950Cys) c.2854G>T (p.Gly952Cys) c.2851G>T (p.Gly951Cys) c.2860G>T (p.Gly954Cys) c.2710G>T (p.Gly904Cys) c.3046G>T (p.Gly1016Cys) | |
| 19 | g.13298785C>G | CA404342598 | CACNA1A | c.2848G>C (p.Gly950Arg) c.2854G>C (p.Gly952Arg) c.2851G>C (p.Gly951Arg) c.2860G>C (p.Gly954Arg) c.2710G>C (p.Gly904Arg) c.3046G>C (p.Gly1016Arg) | |
| 19 | g.13298785C>T | CA404342599 | CACNA1A | c.2848G>A (p.Gly950Ser) c.2854G>A (p.Gly952Ser) c.2851G>A (p.Gly951Ser) c.2860G>A (p.Gly954Ser) c.2710G>A (p.Gly904Ser) c.3046G>A (p.Gly1016Ser) | |
| 19 | g.13298786C>A | CA505784865 | CACNA1A | c.2847G>T (p.Thr949=) c.2853G>T (p.Thr951=) c.2850G>T (p.Thr950=) c.2859G>T (p.Thr953=) c.2709G>T (p.Thr903=) c.3045G>T (p.Thr1015=) | gnomAD v4 |
| 19 | g.13298786C= | CA2323826052 | CACNA1A | c.2847G= (p.Thr949=) c.2853G= (p.Thr951=) c.2850G= (p.Thr950=) c.2859G= (p.Thr953=) c.2709G= (p.Thr903=) c.3045G= (p.Thr1015=) | |
| 19 | g.13298786C>G | CA505784866 | CACNA1A | c.2847G>C (p.Thr949=) c.2853G>C (p.Thr951=) c.2850G>C (p.Thr950=) c.2859G>C (p.Thr953=) c.2709G>C (p.Thr903=) c.3045G>C (p.Thr1015=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298786C>T | CA505784867 | CACNA1A | c.2847G>A (p.Thr949=) c.2853G>A (p.Thr951=) c.2850G>A (p.Thr950=) c.2859G>A (p.Thr953=) c.2709G>A (p.Thr903=) c.3045G>A (p.Thr1015=) | gnomAD v4 |
| 19 | g.13298787G>A | CA404342600 | CACNA1A | c.2846C>T (p.Thr949Met) c.2852C>T (p.Thr951Met) c.2849C>T (p.Thr950Met) c.2858C>T (p.Thr953Met) c.2708C>T (p.Thr903Met) c.3044C>T (p.Thr1015Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298787G>C | CA404342601 | CACNA1A | c.2846C>G (p.Thr949Arg) c.2852C>G (p.Thr951Arg) c.2849C>G (p.Thr950Arg) c.2858C>G (p.Thr953Arg) c.2708C>G (p.Thr903Arg) c.3044C>G (p.Thr1015Arg) | ClinVar gnomAD v4 |
| 19 | g.13298787G= | CA2323826053 | CACNA1A | c.2846C= (p.Thr949=) c.2852C= (p.Thr951=) c.2849C= (p.Thr950=) c.2858C= (p.Thr953=) c.2708C= (p.Thr903=) c.3044C= (p.Thr1015=) | |
| 19 | g.13298787G>T | CA404342602 | CACNA1A | c.2846C>A (p.Thr949Lys) c.2852C>A (p.Thr951Lys) c.2849C>A (p.Thr950Lys) c.2858C>A (p.Thr953Lys) c.2708C>A (p.Thr903Lys) c.3044C>A (p.Thr1015Lys) | gnomAD v4 |
| 19 | g.13298788T>A | CA404342603 | CACNA1A | c.2845A>T (p.Thr949Ser) c.2851A>T (p.Thr951Ser) c.2848A>T (p.Thr950Ser) c.2857A>T (p.Thr953Ser) c.2707A>T (p.Thr903Ser) c.3043A>T (p.Thr1015Ser) | |
| 19 | g.13298788T>C | CA404342605 | CACNA1A | c.2845A>G (p.Thr949Ala) c.2851A>G (p.Thr951Ala) c.2848A>G (p.Thr950Ala) c.2857A>G (p.Thr953Ala) c.2707A>G (p.Thr903Ala) c.3043A>G (p.Thr1015Ala) | gnomAD v4 |
| 19 | g.13298788T>G | CA404342604 | CACNA1A | c.2845A>C (p.Thr949Pro) c.2851A>C (p.Thr951Pro) c.2848A>C (p.Thr950Pro) c.2857A>C (p.Thr953Pro) c.2707A>C (p.Thr903Pro) c.3043A>C (p.Thr1015Pro) | |
| 19 | g.13298789G>A | CA505784870 | CACNA1A | c.2844C>T (p.Arg948=) c.2850C>T (p.Arg950=) c.2847C>T (p.Arg949=) c.2856C>T (p.Arg952=) c.2706C>T (p.Arg902=) c.3042C>T (p.Arg1014=) | |
| 19 | g.13298789G>C | CA9240459 | CACNA1A | c.2844C>G (p.Arg948=) c.2850C>G (p.Arg950=) c.2847C>G (p.Arg949=) c.2856C>G (p.Arg952=) c.2706C>G (p.Arg902=) c.3042C>G (p.Arg1014=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13298789G= | CA2323826056 | CACNA1A | c.2844C= (p.Arg948=) c.2850C= (p.Arg950=) c.2847C= (p.Arg949=) c.2856C= (p.Arg952=) c.2706C= (p.Arg902=) c.3042C= (p.Arg1014=) | |
| 19 | g.13298789G>T | CA505784872 | CACNA1A | c.2844C>A (p.Arg948=) c.2850C>A (p.Arg950=) c.2847C>A (p.Arg949=) c.2856C>A (p.Arg952=) c.2706C>A (p.Arg902=) c.3042C>A (p.Arg1014=) | gnomAD v4 |
| 19 | g.13298789_13298796del | CA2580096609 | CACNA1A | c.2837_2844del (p.Ser946TyrfsTer?) c.2843_2850del (p.Ser948TyrfsTer?) c.2840_2847del (p.Ser947TyrfsTer?) c.2849_2856del (p.Ser950TyrfsTer?) c.2699_2706del (p.Ser900TyrfsTer?) c.3035_3042del (p.Ser1012TyrfsTer?) | ClinVar |
| 19 | g.13298790C>A | CA404342606 | CACNA1A | c.2843G>T (p.Arg948Leu) c.2849G>T (p.Arg950Leu) c.2846G>T (p.Arg949Leu) c.2855G>T (p.Arg952Leu) c.2705G>T (p.Arg902Leu) c.3041G>T (p.Arg1014Leu) | ClinVar gnomAD v4 |
| 19 | g.13298790C= | CA2323826058 | CACNA1A | c.2843G= (p.Arg948=) c.2849G= (p.Arg950=) c.2846G= (p.Arg949=) c.2855G= (p.Arg952=) c.2705G= (p.Arg902=) c.3041G= (p.Arg1014=) | |
| 19 | g.13298790C>G | CA404342607 | CACNA1A | c.2843G>C (p.Arg948Pro) c.2849G>C (p.Arg950Pro) c.2846G>C (p.Arg949Pro) c.2855G>C (p.Arg952Pro) c.2705G>C (p.Arg902Pro) c.3041G>C (p.Arg1014Pro) | |
| 19 | g.13298790C>T | CA404342608 | CACNA1A | c.2843G>A (p.Arg948His) c.2849G>A (p.Arg950His) c.2846G>A (p.Arg949His) c.2855G>A (p.Arg952His) c.2705G>A (p.Arg902His) c.3041G>A (p.Arg1014His) | dbSNP gnomAD v4 |
| 19 | g.13298791G>A | CA305506260 | CACNA1A | c.2842C>T (p.Arg948Cys) c.2848C>T (p.Arg950Cys) c.2845C>T (p.Arg949Cys) c.2854C>T (p.Arg952Cys) c.2704C>T (p.Arg902Cys) c.3040C>T (p.Arg1014Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298791G>C | CA404342609 | CACNA1A | c.2842C>G (p.Arg948Gly) c.2848C>G (p.Arg950Gly) c.2845C>G (p.Arg949Gly) c.2854C>G (p.Arg952Gly) c.2704C>G (p.Arg902Gly) c.3040C>G (p.Arg1014Gly) | gnomAD v4 |
| 19 | g.13298791G= | CA2323826060 | CACNA1A | c.2842C= (p.Arg948=) c.2848C= (p.Arg950=) c.2845C= (p.Arg949=) c.2854C= (p.Arg952=) c.2704C= (p.Arg902=) c.3040C= (p.Arg1014=) | |
| 19 | g.13298791G>T | CA305506265 | CACNA1A | c.2842C>A (p.Arg948Ser) c.2848C>A (p.Arg950Ser) c.2845C>A (p.Arg949Ser) c.2854C>A (p.Arg952Ser) c.2704C>A (p.Arg902Ser) c.3040C>A (p.Arg1014Ser) | dbSNP gnomAD v4 |
| 19 | g.13298792C>A | CA505784881 | CACNA1A | c.2841G>T (p.Pro947=) c.2847G>T (p.Pro949=) c.2844G>T (p.Pro948=) c.2853G>T (p.Pro951=) c.2703G>T (p.Pro901=) c.3039G>T (p.Pro1013=) | gnomAD v4 |
| 19 | g.13298792C= | CA2323826062 | CACNA1A | c.2841G= (p.Pro947=) c.2847G= (p.Pro949=) c.2844G= (p.Pro948=) c.2853G= (p.Pro951=) c.2703G= (p.Pro901=) c.3039G= (p.Pro1013=) | |
| 19 | g.13298792C>G | CA505784884 | CACNA1A | c.2841G>C (p.Pro947=) c.2847G>C (p.Pro949=) c.2844G>C (p.Pro948=) c.2853G>C (p.Pro951=) c.2703G>C (p.Pro901=) c.3039G>C (p.Pro1013=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298792C>T | CA9240460 | CACNA1A | c.2841G>A (p.Pro947=) c.2847G>A (p.Pro949=) c.2844G>A (p.Pro948=) c.2853G>A (p.Pro951=) c.2703G>A (p.Pro901=) c.3039G>A (p.Pro1013=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13298793G>A | CA9240461 | CACNA1A | c.2840C>T (p.Pro947Leu) c.2846C>T (p.Pro949Leu) c.2843C>T (p.Pro948Leu) c.2852C>T (p.Pro951Leu) c.2702C>T (p.Pro901Leu) c.3038C>T (p.Pro1013Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13298793G>C | CA404342610 | CACNA1A | c.2840C>G (p.Pro947Arg) c.2846C>G (p.Pro949Arg) c.2843C>G (p.Pro948Arg) c.2852C>G (p.Pro951Arg) c.2702C>G (p.Pro901Arg) c.3038C>G (p.Pro1013Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298793G= | CA2323826064 | CACNA1A | c.2840C= (p.Pro947=) c.2846C= (p.Pro949=) c.2843C= (p.Pro948=) c.2852C= (p.Pro951=) c.2702C= (p.Pro901=) c.3038C= (p.Pro1013=) | |
| 19 | g.13298793G>T | CA404342611 | CACNA1A | c.2840C>A (p.Pro947Gln) c.2846C>A (p.Pro949Gln) c.2843C>A (p.Pro948Gln) c.2852C>A (p.Pro951Gln) c.2702C>A (p.Pro901Gln) c.3038C>A (p.Pro1013Gln) | gnomAD v4 |