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.13298879_13298884dup | CA2323825826 | CACNA1A | c.2753_2758dup (p.Glu919_Ala920insGlyGlu) c.2759_2764dup (p.Glu921_Ala922insGlyGlu) c.2756_2761dup (p.Glu920_Ala921insGlyGlu) c.2765_2770dup (p.Glu923_Ala924insGlyGlu) c.2615_2620dup (p.Glu873_Ala874insGlyGlu) c.2951_2956dup (p.Glu985_Ala986insGlyGlu) | dbSNP |
| 19 | g.13298882del | CA2582833360 | CACNA1A | c.2753del (p.Gly918AlafsTer?) c.2759del (p.Gly920AlafsTer?) c.2756del (p.Gly919AlafsTer?) c.2765del (p.Gly922AlafsTer?) c.2615del (p.Gly872AlafsTer?) c.2951del (p.Gly984AlafsTer?) | gnomAD v4 |
| 19 | g.13298882C>A | CA404342787 | CACNA1A | c.2751G>T (p.Glu917Asp) c.2757G>T (p.Glu919Asp) c.2754G>T (p.Glu918Asp) c.2763G>T (p.Glu921Asp) c.2613G>T (p.Glu871Asp) c.2949G>T (p.Glu983Asp) | gnomAD v4 |
| 19 | g.13298882C= | CA2323825837 | CACNA1A | c.2751G= (p.Glu917=) c.2757G= (p.Glu919=) c.2754G= (p.Glu918=) c.2763G= (p.Glu921=) c.2613G= (p.Glu871=) c.2949G= (p.Glu983=) | |
| 19 | g.13298882C>G | CA152091 | CACNA1A | c.2751G>C (p.Glu917Asp) c.2757G>C (p.Glu919Asp) c.2754G>C (p.Glu918Asp) c.2763G>C (p.Glu921Asp) c.2613G>C (p.Glu871Asp) c.2949G>C (p.Glu983Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298882C>T | CA9240489 | CACNA1A | c.2751G>A (p.Glu917=) c.2757G>A (p.Glu919=) c.2754G>A (p.Glu918=) c.2763G>A (p.Glu921=) c.2613G>A (p.Glu871=) c.2949G>A (p.Glu983=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298883T>A | CA404342788 | CACNA1A | c.2750A>T (p.Glu917Val) c.2756A>T (p.Glu919Val) c.2753A>T (p.Glu918Val) c.2762A>T (p.Glu921Val) c.2612A>T (p.Glu871Val) c.2948A>T (p.Glu983Val) | gnomAD v4 |
| 19 | g.13298883T>C | CA404342789 | CACNA1A | c.2750A>G (p.Glu917Gly) c.2756A>G (p.Glu919Gly) c.2753A>G (p.Glu918Gly) c.2762A>G (p.Glu921Gly) c.2612A>G (p.Glu871Gly) c.2948A>G (p.Glu983Gly) | gnomAD v4 |
| 19 | g.13298883T>G | CA404342790 | CACNA1A | c.2750A>C (p.Glu917Ala) c.2756A>C (p.Glu919Ala) c.2753A>C (p.Glu918Ala) c.2762A>C (p.Glu921Ala) c.2612A>C (p.Glu871Ala) c.2948A>C (p.Glu983Ala) | |
| 19 | g.13298884C>A | CA404342791 | CACNA1A | c.2749G>T (p.Glu917Ter) c.2755G>T (p.Glu919Ter) c.2752G>T (p.Glu918Ter) c.2761G>T (p.Glu921Ter) c.2611G>T (p.Glu871Ter) c.2947G>T (p.Glu983Ter) | |
| 19 | g.13298884C= | CA2323825840 | CACNA1A | c.2749G= (p.Glu917=) c.2755G= (p.Glu919=) c.2752G= (p.Glu918=) c.2761G= (p.Glu921=) c.2611G= (p.Glu871=) c.2947G= (p.Glu983=) | |
| 19 | g.13298884C>G | CA404342792 | CACNA1A | c.2749G>C (p.Glu917Gln) c.2755G>C (p.Glu919Gln) c.2752G>C (p.Glu918Gln) c.2761G>C (p.Glu921Gln) c.2611G>C (p.Glu871Gln) c.2947G>C (p.Glu983Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298884C>T | CA305506396 | CACNA1A | c.2749G>A (p.Glu917Lys) c.2755G>A (p.Glu919Lys) c.2752G>A (p.Glu918Lys) c.2761G>A (p.Glu921Lys) c.2611G>A (p.Glu871Lys) c.2947G>A (p.Glu983Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298885C>A | CA404342793 | CACNA1A | c.2748G>T (p.Trp916Cys) c.2754G>T (p.Trp918Cys) c.2751G>T (p.Trp917Cys) c.2760G>T (p.Trp920Cys) c.2610G>T (p.Trp870Cys) c.2946G>T (p.Trp982Cys) | gnomAD v4 |
| 19 | g.13298885C= | CA2323825842 | CACNA1A | c.2748G= (p.Trp916=) c.2754G= (p.Trp918=) c.2751G= (p.Trp917=) c.2760G= (p.Trp920=) c.2610G= (p.Trp870=) c.2946G= (p.Trp982=) | |
| 19 | g.13298885C>G | CA404342794 | CACNA1A | c.2748G>C (p.Trp916Cys) c.2754G>C (p.Trp918Cys) c.2751G>C (p.Trp917Cys) c.2760G>C (p.Trp920Cys) c.2610G>C (p.Trp870Cys) c.2946G>C (p.Trp982Cys) | gnomAD v4 |
| 19 | g.13298885C>T | CA404342795 | CACNA1A | c.2748G>A (p.Trp916Ter) c.2754G>A (p.Trp918Ter) c.2751G>A (p.Trp917Ter) c.2760G>A (p.Trp920Ter) c.2610G>A (p.Trp870Ter) c.2946G>A (p.Trp982Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13298886C>A | CA404342796 | CACNA1A | c.2747G>T (p.Trp916Leu) c.2753G>T (p.Trp918Leu) c.2750G>T (p.Trp917Leu) c.2759G>T (p.Trp920Leu) c.2609G>T (p.Trp870Leu) c.2945G>T (p.Trp982Leu) | dbSNP gnomAD v2 |
| 19 | g.13298886C= | CA2323825844 | CACNA1A | c.2747G= (p.Trp916=) c.2753G= (p.Trp918=) c.2750G= (p.Trp917=) c.2759G= (p.Trp920=) c.2609G= (p.Trp870=) c.2945G= (p.Trp982=) | |
| 19 | g.13298886C>G | CA404342798 | CACNA1A | c.2747G>C (p.Trp916Ser) c.2753G>C (p.Trp918Ser) c.2750G>C (p.Trp917Ser) c.2759G>C (p.Trp920Ser) c.2609G>C (p.Trp870Ser) c.2945G>C (p.Trp982Ser) | |
| 19 | g.13298886C>T | CA404342797 | CACNA1A | c.2747G>A (p.Trp916Ter) c.2753G>A (p.Trp918Ter) c.2750G>A (p.Trp917Ter) c.2759G>A (p.Trp920Ter) c.2609G>A (p.Trp870Ter) c.2945G>A (p.Trp982Ter) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 19 | g.13298887A>C | CA404342799 | CACNA1A | c.2746T>G (p.Trp916Gly) c.2752T>G (p.Trp918Gly) c.2749T>G (p.Trp917Gly) c.2758T>G (p.Trp920Gly) c.2608T>G (p.Trp870Gly) c.2944T>G (p.Trp982Gly) | |
| 19 | g.13298887A>G | CA404342800 | CACNA1A | c.2746T>C (p.Trp916Arg) c.2752T>C (p.Trp918Arg) c.2749T>C (p.Trp917Arg) c.2758T>C (p.Trp920Arg) c.2608T>C (p.Trp870Arg) c.2944T>C (p.Trp982Arg) | gnomAD v4 |
| 19 | g.13298887A>T | CA404342801 | CACNA1A | c.2746T>A (p.Trp916Arg) c.2752T>A (p.Trp918Arg) c.2749T>A (p.Trp917Arg) c.2758T>A (p.Trp920Arg) c.2608T>A (p.Trp870Arg) c.2944T>A (p.Trp982Arg) | |
| 19 | g.13298888G>A | CA505785287 | CACNA1A | c.2745C>T (p.Phe915=) c.2751C>T (p.Phe917=) c.2748C>T (p.Phe916=) c.2757C>T (p.Phe919=) c.2607C>T (p.Phe869=) c.2943C>T (p.Phe981=) | |
| 19 | g.13298888G>C | CA404342802 | CACNA1A | c.2745C>G (p.Phe915Leu) c.2751C>G (p.Phe917Leu) c.2748C>G (p.Phe916Leu) c.2757C>G (p.Phe919Leu) c.2607C>G (p.Phe869Leu) c.2943C>G (p.Phe981Leu) | |
| 19 | g.13298888G>T | CA404342803 | CACNA1A | c.2745C>A (p.Phe915Leu) c.2751C>A (p.Phe917Leu) c.2748C>A (p.Phe916Leu) c.2757C>A (p.Phe919Leu) c.2607C>A (p.Phe869Leu) c.2943C>A (p.Phe981Leu) | |
| 19 | g.13298889A>C | CA404342804 | CACNA1A | c.2744T>G (p.Phe915Cys) c.2750T>G (p.Phe917Cys) c.2747T>G (p.Phe916Cys) c.2756T>G (p.Phe919Cys) c.2606T>G (p.Phe869Cys) c.2942T>G (p.Phe981Cys) | |
| 19 | g.13298889A>G | CA404342805 | CACNA1A | c.2744T>C (p.Phe915Ser) c.2750T>C (p.Phe917Ser) c.2747T>C (p.Phe916Ser) c.2756T>C (p.Phe919Ser) c.2606T>C (p.Phe869Ser) c.2942T>C (p.Phe981Ser) | |
| 19 | g.13298889A>T | CA404342806 | CACNA1A | c.2744T>A (p.Phe915Tyr) c.2750T>A (p.Phe917Tyr) c.2747T>A (p.Phe916Tyr) c.2756T>A (p.Phe919Tyr) c.2606T>A (p.Phe869Tyr) c.2942T>A (p.Phe981Tyr) | |
| 19 | g.13298890A>C | CA404342807 | CACNA1A | c.2743T>G (p.Phe915Val) c.2749T>G (p.Phe917Val) c.2746T>G (p.Phe916Val) c.2755T>G (p.Phe919Val) c.2605T>G (p.Phe869Val) c.2941T>G (p.Phe981Val) | |
| 19 | g.13298890A>G | CA404342808 | CACNA1A | c.2743T>C (p.Phe915Leu) c.2749T>C (p.Phe917Leu) c.2746T>C (p.Phe916Leu) c.2755T>C (p.Phe919Leu) c.2605T>C (p.Phe869Leu) c.2941T>C (p.Phe981Leu) | |
| 19 | g.13298890A>T | CA404342809 | CACNA1A | c.2743T>A (p.Phe915Ile) c.2749T>A (p.Phe917Ile) c.2746T>A (p.Phe916Ile) c.2755T>A (p.Phe919Ile) c.2605T>A (p.Phe869Ile) c.2941T>A (p.Phe981Ile) | |
| 19 | g.13298891C>A | CA505785295 | CACNA1A | c.2742G>T (p.Gly914=) c.2748G>T (p.Gly916=) c.2745G>T (p.Gly915=) c.2754G>T (p.Gly918=) c.2604G>T (p.Gly868=) c.2940G>T (p.Gly980=) | gnomAD v4 |
| 19 | g.13298891C>G | CA505785296 | CACNA1A | c.2742G>C (p.Gly914=) c.2748G>C (p.Gly916=) c.2745G>C (p.Gly915=) c.2754G>C (p.Gly918=) c.2604G>C (p.Gly868=) c.2940G>C (p.Gly980=) | |
| 19 | g.13298891C>T | CA505785297 | CACNA1A | c.2742G>A (p.Gly914=) c.2748G>A (p.Gly916=) c.2745G>A (p.Gly915=) c.2754G>A (p.Gly918=) c.2604G>A (p.Gly868=) c.2940G>A (p.Gly980=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.13298892C>A | CA404342810 | CACNA1A | c.2741G>T (p.Gly914Val) c.2747G>T (p.Gly916Val) c.2744G>T (p.Gly915Val) c.2753G>T (p.Gly918Val) c.2603G>T (p.Gly868Val) c.2939G>T (p.Gly980Val) | |
| 19 | g.13298892C= | CA2323825845 | CACNA1A | c.2741G= (p.Gly914=) c.2747G= (p.Gly916=) c.2744G= (p.Gly915=) c.2753G= (p.Gly918=) c.2603G= (p.Gly868=) c.2939G= (p.Gly980=) | |
| 19 | g.13298892C>G | CA9240490 | CACNA1A | c.2741G>C (p.Gly914Ala) c.2747G>C (p.Gly916Ala) c.2744G>C (p.Gly915Ala) c.2753G>C (p.Gly918Ala) c.2603G>C (p.Gly868Ala) c.2939G>C (p.Gly980Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13298892C>T | CA305506400 | CACNA1A | c.2741G>A (p.Gly914Glu) c.2747G>A (p.Gly916Glu) c.2744G>A (p.Gly915Glu) c.2753G>A (p.Gly918Glu) c.2603G>A (p.Gly868Glu) c.2939G>A (p.Gly980Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13298893C>A | CA404342811 | CACNA1A | c.2740G>T (p.Gly914Trp) c.2746G>T (p.Gly916Trp) c.2743G>T (p.Gly915Trp) c.2752G>T (p.Gly918Trp) c.2602G>T (p.Gly868Trp) c.2938G>T (p.Gly980Trp) | gnomAD v4 |
| 19 | g.13298893C>G | CA404342812 | CACNA1A | c.2740G>C (p.Gly914Arg) c.2746G>C (p.Gly916Arg) c.2743G>C (p.Gly915Arg) c.2752G>C (p.Gly918Arg) c.2602G>C (p.Gly868Arg) c.2938G>C (p.Gly980Arg) | |
| 19 | g.13298893C>T | CA404342813 | CACNA1A | c.2740G>A (p.Gly914Arg) c.2746G>A (p.Gly916Arg) c.2743G>A (p.Gly915Arg) c.2752G>A (p.Gly918Arg) c.2602G>A (p.Gly868Arg) c.2938G>A (p.Gly980Arg) | gnomAD v4 |
| 19 | g.13298894G>A | CA152088 | CACNA1A | c.2739C>T (p.Pro913=) c.2745C>T (p.Pro915=) c.2742C>T (p.Pro914=) c.2751C>T (p.Pro917=) c.2601C>T (p.Pro867=) c.2937C>T (p.Pro979=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298894G>C | CA9240491 | CACNA1A | c.2739C>G (p.Pro913=) c.2745C>G (p.Pro915=) c.2742C>G (p.Pro914=) c.2751C>G (p.Pro917=) c.2601C>G (p.Pro867=) c.2937C>G (p.Pro979=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13298894G= | CA2323825849 | CACNA1A | c.2739C= (p.Pro913=) c.2745C= (p.Pro915=) c.2742C= (p.Pro914=) c.2751C= (p.Pro917=) c.2601C= (p.Pro867=) c.2937C= (p.Pro979=) | |
| 19 | g.13298894G>T | CA505785309 | CACNA1A | c.2739C>A (p.Pro913=) c.2745C>A (p.Pro915=) c.2742C>A (p.Pro914=) c.2751C>A (p.Pro917=) c.2601C>A (p.Pro867=) c.2937C>A (p.Pro979=) | gnomAD v4 |
| 19 | g.13298894_13298896delinsAGA | CA10605911 | CACNA1A | c.2737_2739delinsTCT (p.Pro913Ser) c.2743_2745delinsTCT (p.Pro915Ser) c.2740_2742delinsTCT (p.Pro914Ser) c.2749_2751delinsTCT (p.Pro917Ser) c.2599_2601delinsTCT (p.Pro867Ser) c.2935_2937delinsTCT (p.Pro979Ser) | ClinVar dbSNP |
| 19 | g.13298894_13298896delinsGGG | CA2323825851 | CACNA1A | c.2737_2739delinsCCC (p.Pro913=) c.2743_2745delinsCCC (p.Pro915=) c.2740_2742delinsCCC (p.Pro914=) c.2749_2751delinsCCC (p.Pro917=) c.2599_2601delinsCCC (p.Pro867=) c.2935_2937delinsCCC (p.Pro979=) | |
| 19 | g.13298895G>A | CA404342814 | CACNA1A | c.2738C>T (p.Pro913Leu) c.2744C>T (p.Pro915Leu) c.2741C>T (p.Pro914Leu) c.2750C>T (p.Pro917Leu) c.2600C>T (p.Pro867Leu) c.2936C>T (p.Pro979Leu) | gnomAD v4 |