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 |
|---|---|---|---|---|---|
| X | g.32491320_32491327delinsGGGGTGGT | CA2422829110 | DMD | n.2779_2786delinsACCACCCC c.2572_2579delinsACCACCCC (p.Thr858=) c.2560_2567delinsACCACCCC (p.Thr854=) c.94-126128_94-126121delinsACCACCCC (n.94-126128_94-126121delinsACCACCCC) c.94-126617_94-126610delinsACCACCCC (n.94-126617_94-126610delinsACCACCCC) n.336-274264_336-274257delinsACCACCCC c.2548_2555delinsACCACCCC (p.Thr850=) c.2203_2210delinsACCACCCC (p.Thr735=) c.2443_2450delinsACCACCCC (p.Thr815=) | |
| X | g.32491325_32491331del | CA915950907 | DMD | n.2779_2785del c.2572_2578del (p.Thr858HisfsTer11) c.2560_2566del (p.Thr854HisfsTer11) c.94-126128_94-126122del (n.94-126128_94-126122del) c.94-126617_94-126611del (n.94-126617_94-126611del) n.336-274264_336-274258del c.2548_2554del (p.Thr850HisfsTer11) c.2203_2209del (p.Thr735HisfsTer11) c.2443_2449del (p.Thr815HisfsTer11) | ClinVar dbSNP |
| X | g.32491327_32491334del | CA2695232031 | DMD | n.2775_2782del c.2568_2575del (p.Gln856HisfsTer9) c.2556_2563del (p.Gln852HisfsTer9) c.94-126132_94-126125del (n.94-126132_94-126125del) c.94-126621_94-126614del (n.94-126621_94-126614del) n.336-274268_336-274261del c.2544_2551del (p.Gln848HisfsTer9) c.2199_2206del (p.Gln733HisfsTer9) c.2439_2446del (p.Gln813HisfsTer9) | |
| X | g.32491327T>A | CA10379493 | DMD | n.2779A>T c.2572A>T (p.Thr858Ser) c.2560A>T (p.Thr854Ser) c.94-126128A>T (n.94-126128A>T) c.94-126617A>T (n.94-126617A>T) n.336-274264A>T c.2548A>T (p.Thr850Ser) c.2203A>T (p.Thr735Ser) c.2443A>T (p.Thr815Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32491327T>C | CA412671993 | DMD | n.2779A>G c.2572A>G (p.Thr858Ala) c.2560A>G (p.Thr854Ala) c.94-126128A>G (n.94-126128A>G) c.94-126617A>G (n.94-126617A>G) n.336-274264A>G c.2548A>G (p.Thr850Ala) c.2203A>G (p.Thr735Ala) c.2443A>G (p.Thr815Ala) | |
| X | g.32491327T>G | CA412671995 | DMD | n.2779A>C c.2572A>C (p.Thr858Pro) c.2560A>C (p.Thr854Pro) c.94-126128A>C (n.94-126128A>C) c.94-126617A>C (n.94-126617A>C) n.336-274264A>C c.2548A>C (p.Thr850Pro) c.2203A>C (p.Thr735Pro) c.2443A>C (p.Thr815Pro) | |
| X | g.32491327T= | CA2422829115 | DMD | n.2779A= c.2572A= (p.Thr858=) c.2560A= (p.Thr854=) c.94-126128A= (n.94-126128A=) c.94-126617A= (n.94-126617A=) n.336-274264A= c.2548A= (p.Thr850=) c.2203A= (p.Thr735=) c.2443A= (p.Thr815=) | |
| X | g.32491328G>A | CA515719993 | DMD | n.2778C>T c.2571C>T (p.Pro857=) c.2559C>T (p.Pro853=) c.94-126129C>T (n.94-126129C>T) c.94-126618C>T (n.94-126618C>T) n.336-274265C>T c.2547C>T (p.Pro849=) c.2202C>T (p.Pro734=) c.2442C>T (p.Pro814=) | ClinVar dbSNP |
| X | g.32491328G>C | CA515719994 | DMD | n.2778C>G c.2571C>G (p.Pro857=) c.2559C>G (p.Pro853=) c.94-126129C>G (n.94-126129C>G) c.94-126618C>G (n.94-126618C>G) n.336-274265C>G c.2547C>G (p.Pro849=) c.2202C>G (p.Pro734=) c.2442C>G (p.Pro814=) | |
| X | g.32491328G>T | CA515719995 | DMD | n.2778C>A c.2571C>A (p.Pro857=) c.2559C>A (p.Pro853=) c.94-126129C>A (n.94-126129C>A) c.94-126618C>A (n.94-126618C>A) n.336-274265C>A c.2547C>A (p.Pro849=) c.2202C>A (p.Pro734=) c.2442C>A (p.Pro814=) | |
| X | g.32491330del | CA2695232032 | DMD | n.2778del c.2571del (p.Thr858ProfsTer13) c.2559del (p.Thr854ProfsTer13) c.94-126129del (n.94-126129del) c.94-126618del (n.94-126618del) n.336-274265del c.2547del (p.Thr850ProfsTer13) c.2202del (p.Thr735ProfsTer13) c.2442del (p.Thr815ProfsTer13) | |
| X | g.32491329G>A | CA412671997 | DMD | n.2777C>T c.2570C>T (p.Pro857Leu) c.2558C>T (p.Pro853Leu) c.94-126130C>T (n.94-126130C>T) c.94-126619C>T (n.94-126619C>T) n.336-274266C>T c.2546C>T (p.Pro849Leu) c.2201C>T (p.Pro734Leu) c.2441C>T (p.Pro814Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.32491329G>C | CA412671999 | DMD | n.2777C>G c.2570C>G (p.Pro857Arg) c.2558C>G (p.Pro853Arg) c.94-126130C>G (n.94-126130C>G) c.94-126619C>G (n.94-126619C>G) n.336-274266C>G c.2546C>G (p.Pro849Arg) c.2201C>G (p.Pro734Arg) c.2441C>G (p.Pro814Arg) | COSMIC COSMIC COSMIC |
| X | g.32491329G= | CA2422829116 | DMD | n.2777C= c.2570C= (p.Pro857=) c.2558C= (p.Pro853=) c.94-126130C= (n.94-126130C=) c.94-126619C= (n.94-126619C=) n.336-274266C= c.2546C= (p.Pro849=) c.2201C= (p.Pro734=) c.2441C= (p.Pro814=) | |
| X | g.32491329G>T | CA412672001 | DMD | n.2777C>A c.2570C>A (p.Pro857His) c.2558C>A (p.Pro853His) c.94-126130C>A (n.94-126130C>A) c.94-126619C>A (n.94-126619C>A) n.336-274266C>A c.2546C>A (p.Pro849His) c.2201C>A (p.Pro734His) c.2441C>A (p.Pro814His) | |
| X | g.32491330G>A | CA10379494 | DMD | n.2776C>T c.2569C>T (p.Pro857Ser) c.2557C>T (p.Pro853Ser) c.94-126131C>T (n.94-126131C>T) c.94-126620C>T (n.94-126620C>T) n.336-274267C>T c.2545C>T (p.Pro849Ser) c.2200C>T (p.Pro734Ser) c.2440C>T (p.Pro814Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32491330G>C | CA412672004 | DMD | n.2776C>G c.2569C>G (p.Pro857Ala) c.2557C>G (p.Pro853Ala) c.94-126131C>G (n.94-126131C>G) c.94-126620C>G (n.94-126620C>G) n.336-274267C>G c.2545C>G (p.Pro849Ala) c.2200C>G (p.Pro734Ala) c.2440C>G (p.Pro814Ala) | |
| X | g.32491330G= | CA2422829117 | DMD | n.2776C= c.2569C= (p.Pro857=) c.2557C= (p.Pro853=) c.94-126131C= (n.94-126131C=) c.94-126620C= (n.94-126620C=) n.336-274267C= c.2545C= (p.Pro849=) c.2200C= (p.Pro734=) c.2440C= (p.Pro814=) | |
| X | g.32491330G>T | CA412672006 | DMD | n.2776C>A c.2569C>A (p.Pro857Thr) c.2557C>A (p.Pro853Thr) c.94-126131C>A (n.94-126131C>A) c.94-126620C>A (n.94-126620C>A) n.336-274267C>A c.2545C>A (p.Pro849Thr) c.2200C>A (p.Pro734Thr) c.2440C>A (p.Pro814Thr) | |
| X | g.32491331T>A | CA412672009 | DMD | n.2775A>T c.2568A>T (p.Gln856His) c.2556A>T (p.Gln852His) c.94-126132A>T (n.94-126132A>T) c.94-126621A>T (n.94-126621A>T) n.336-274268A>T c.2544A>T (p.Gln848His) c.2199A>T (p.Gln733His) c.2439A>T (p.Gln813His) | |
| X | g.32491331T>C | CA515719996 | DMD | n.2775A>G c.2568A>G (p.Gln856=) c.2556A>G (p.Gln852=) c.94-126132A>G (n.94-126132A>G) c.94-126621A>G (n.94-126621A>G) n.336-274268A>G c.2544A>G (p.Gln848=) c.2199A>G (p.Gln733=) c.2439A>G (p.Gln813=) | ClinVar dbSNP gnomAD v4 |
| X | g.32491331T>G | CA412672007 | DMD | n.2775A>C c.2568A>C (p.Gln856His) c.2556A>C (p.Gln852His) c.94-126132A>C (n.94-126132A>C) c.94-126621A>C (n.94-126621A>C) n.336-274268A>C c.2544A>C (p.Gln848His) c.2199A>C (p.Gln733His) c.2439A>C (p.Gln813His) | |
| X | g.32491332T>A | CA412672011 | DMD | n.2774A>T c.2567A>T (p.Gln856Leu) c.2555A>T (p.Gln852Leu) c.94-126133A>T (n.94-126133A>T) c.94-126622A>T (n.94-126622A>T) n.336-274269A>T c.2543A>T (p.Gln848Leu) c.2198A>T (p.Gln733Leu) c.2438A>T (p.Gln813Leu) | |
| X | g.32491332T>C | CA412672013 | DMD | n.2774A>G c.2567A>G (p.Gln856Arg) c.2555A>G (p.Gln852Arg) c.94-126133A>G (n.94-126133A>G) c.94-126622A>G (n.94-126622A>G) n.336-274269A>G c.2543A>G (p.Gln848Arg) c.2198A>G (p.Gln733Arg) c.2438A>G (p.Gln813Arg) | |
| X | g.32491332T>G | CA412672015 | DMD | n.2774A>C c.2567A>C (p.Gln856Pro) c.2555A>C (p.Gln852Pro) c.94-126133A>C (n.94-126133A>C) c.94-126622A>C (n.94-126622A>C) n.336-274269A>C c.2543A>C (p.Gln848Pro) c.2198A>C (p.Gln733Pro) c.2438A>C (p.Gln813Pro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.32491332T= | CA2422829118 | DMD | n.2774A= c.2567A= (p.Gln856=) c.2555A= (p.Gln852=) c.94-126133A= (n.94-126133A=) c.94-126622A= (n.94-126622A=) n.336-274269A= c.2543A= (p.Gln848=) c.2198A= (p.Gln733=) c.2438A= (p.Gln813=) | |
| X | g.32491333G>A | CA412672017 | DMD | n.2773C>T c.2566C>T (p.Gln856Ter) c.2554C>T (p.Gln852Ter) c.94-126134C>T (n.94-126134C>T) c.94-126623C>T (n.94-126623C>T) n.336-274270C>T c.2542C>T (p.Gln848Ter) c.2197C>T (p.Gln733Ter) c.2437C>T (p.Gln813Ter) | ClinVar |
| X | g.32491333G>C | CA412672018 | DMD | n.2773C>G c.2566C>G (p.Gln856Glu) c.2554C>G (p.Gln852Glu) c.94-126134C>G (n.94-126134C>G) c.94-126623C>G (n.94-126623C>G) n.336-274270C>G c.2542C>G (p.Gln848Glu) c.2197C>G (p.Gln733Glu) c.2437C>G (p.Gln813Glu) | |
| X | g.32491333G>T | CA412672020 | DMD | n.2773C>A c.2566C>A (p.Gln856Lys) c.2554C>A (p.Gln852Lys) c.94-126134C>A (n.94-126134C>A) c.94-126623C>A (n.94-126623C>A) n.336-274270C>A c.2542C>A (p.Gln848Lys) c.2197C>A (p.Gln733Lys) c.2437C>A (p.Gln813Lys) | |
| X | g.32491334G>A | CA515719997 | DMD | n.2772C>T c.2565C>T (p.Ile855=) c.2553C>T (p.Ile851=) c.94-126135C>T (n.94-126135C>T) c.94-126624C>T (n.94-126624C>T) n.336-274271C>T c.2541C>T (p.Ile847=) c.2196C>T (p.Ile732=) c.2436C>T (p.Ile812=) | ClinVar dbSNP |
| X | g.32491334G>C | CA412672022 | DMD | n.2772C>G c.2565C>G (p.Ile855Met) c.2553C>G (p.Ile851Met) c.94-126135C>G (n.94-126135C>G) c.94-126624C>G (n.94-126624C>G) n.336-274271C>G c.2541C>G (p.Ile847Met) c.2196C>G (p.Ile732Met) c.2436C>G (p.Ile812Met) | |
| X | g.32491334G>T | CA515719998 | DMD | n.2772C>A c.2565C>A (p.Ile855=) c.2553C>A (p.Ile851=) c.94-126135C>A (n.94-126135C>A) c.94-126624C>A (n.94-126624C>A) n.336-274271C>A c.2541C>A (p.Ile847=) c.2196C>A (p.Ile732=) c.2436C>A (p.Ile812=) | ClinVar dbSNP |
| X | g.32491335A= | CA2422829119 | DMD | n.2771T= c.2564T= (p.Ile855=) c.2552T= (p.Ile851=) c.94-126136T= (n.94-126136T=) c.94-126625T= (n.94-126625T=) n.336-274272T= c.2540T= (p.Ile847=) c.2195T= (p.Ile732=) c.2435T= (p.Ile812=) | |
| X | g.32491335A>C | CA412672024 | DMD | n.2771T>G c.2564T>G (p.Ile855Ser) c.2552T>G (p.Ile851Ser) c.94-126136T>G (n.94-126136T>G) c.94-126625T>G (n.94-126625T>G) n.336-274272T>G c.2540T>G (p.Ile847Ser) c.2195T>G (p.Ile732Ser) c.2435T>G (p.Ile812Ser) | |
| X | g.32491335A>G | CA412672025 | DMD | n.2771T>C c.2564T>C (p.Ile855Thr) c.2552T>C (p.Ile851Thr) c.94-126136T>C (n.94-126136T>C) c.94-126625T>C (n.94-126625T>C) n.336-274272T>C c.2540T>C (p.Ile847Thr) c.2195T>C (p.Ile732Thr) c.2435T>C (p.Ile812Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.32491335A>T | CA412672027 | DMD | n.2771T>A c.2564T>A (p.Ile855Asn) c.2552T>A (p.Ile851Asn) c.94-126136T>A (n.94-126136T>A) c.94-126625T>A (n.94-126625T>A) n.336-274272T>A c.2540T>A (p.Ile847Asn) c.2195T>A (p.Ile732Asn) c.2435T>A (p.Ile812Asn) | |
| X | g.32491336T>A | CA412672029 | DMD | n.2770A>T c.2563A>T (p.Ile855Phe) c.2551A>T (p.Ile851Phe) c.94-126137A>T (n.94-126137A>T) c.94-126626A>T (n.94-126626A>T) n.336-274273A>T c.2539A>T (p.Ile847Phe) c.2194A>T (p.Ile732Phe) c.2434A>T (p.Ile812Phe) | |
| X | g.32491336T>C | CA412672031 | DMD | n.2770A>G c.2563A>G (p.Ile855Val) c.2551A>G (p.Ile851Val) c.94-126137A>G (n.94-126137A>G) c.94-126626A>G (n.94-126626A>G) n.336-274273A>G c.2539A>G (p.Ile847Val) c.2194A>G (p.Ile732Val) c.2434A>G (p.Ile812Val) | |
| X | g.32491336T>G | CA412672033 | DMD | n.2770A>C c.2563A>C (p.Ile855Leu) c.2551A>C (p.Ile851Leu) c.94-126137A>C (n.94-126137A>C) c.94-126626A>C (n.94-126626A>C) n.336-274273A>C c.2539A>C (p.Ile847Leu) c.2194A>C (p.Ile732Leu) c.2434A>C (p.Ile812Leu) | |
| X | g.32491339dup | CA2580100683 | DMD | n.2770dup c.2563dup (p.Ile855AsnfsTer13) c.2551dup (p.Ile851AsnfsTer13) c.94-126137dup (n.94-126137dup) c.94-126626dup (n.94-126626dup) n.336-274273dup c.2539dup (p.Ile847AsnfsTer13) c.2194dup (p.Ile732AsnfsTer13) c.2434dup (p.Ile812AsnfsTer13) | ClinVar |
| X | g.32491337T>A | CA412672035 | DMD | n.2769A>T c.2562A>T (p.Lys854Asn) c.2550A>T (p.Lys850Asn) c.94-126138A>T (n.94-126138A>T) c.94-126627A>T (n.94-126627A>T) n.336-274274A>T c.2538A>T (p.Lys846Asn) c.2193A>T (p.Lys731Asn) c.2433A>T (p.Lys811Asn) | |
| X | g.32491337T>C | CA515719999 | DMD | n.2769A>G c.2562A>G (p.Lys854=) c.2550A>G (p.Lys850=) c.94-126138A>G (n.94-126138A>G) c.94-126627A>G (n.94-126627A>G) n.336-274274A>G c.2538A>G (p.Lys846=) c.2193A>G (p.Lys731=) c.2433A>G (p.Lys811=) | |
| X | g.32491337T>G | CA412672037 | DMD | n.2769A>C c.2562A>C (p.Lys854Asn) c.2550A>C (p.Lys850Asn) c.94-126138A>C (n.94-126138A>C) c.94-126627A>C (n.94-126627A>C) n.336-274274A>C c.2538A>C (p.Lys846Asn) c.2193A>C (p.Lys731Asn) c.2433A>C (p.Lys811Asn) | gnomAD v4 |
| X | g.32491338T>A | CA412672039 | DMD | n.2768A>T c.2561A>T (p.Lys854Ile) c.2549A>T (p.Lys850Ile) c.94-126139A>T (n.94-126139A>T) c.94-126628A>T (n.94-126628A>T) n.336-274275A>T c.2537A>T (p.Lys846Ile) c.2192A>T (p.Lys731Ile) c.2432A>T (p.Lys811Ile) | |
| X | g.32491338T>C | CA412672043 | DMD | n.2768A>G c.2561A>G (p.Lys854Arg) c.2549A>G (p.Lys850Arg) c.94-126139A>G (n.94-126139A>G) c.94-126628A>G (n.94-126628A>G) n.336-274275A>G c.2537A>G (p.Lys846Arg) c.2192A>G (p.Lys731Arg) c.2432A>G (p.Lys811Arg) | |
| X | g.32491338T>G | CA412672041 | DMD | n.2768A>C c.2561A>C (p.Lys854Thr) c.2549A>C (p.Lys850Thr) c.94-126139A>C (n.94-126139A>C) c.94-126628A>C (n.94-126628A>C) n.336-274275A>C c.2537A>C (p.Lys846Thr) c.2192A>C (p.Lys731Thr) c.2432A>C (p.Lys811Thr) | |
| X | g.32491339T>A | CA412672046 | DMD | n.2767A>T c.2560A>T (p.Lys854Ter) c.2548A>T (p.Lys850Ter) c.94-126140A>T (n.94-126140A>T) c.94-126629A>T (n.94-126629A>T) n.336-274276A>T c.2536A>T (p.Lys846Ter) c.2191A>T (p.Lys731Ter) c.2431A>T (p.Lys811Ter) | dbSNP |
| X | g.32491339T>C | CA412672047 | DMD | n.2767A>G c.2560A>G (p.Lys854Glu) c.2548A>G (p.Lys850Glu) c.94-126140A>G (n.94-126140A>G) c.94-126629A>G (n.94-126629A>G) n.336-274276A>G c.2536A>G (p.Lys846Glu) c.2191A>G (p.Lys731Glu) c.2431A>G (p.Lys811Glu) | |
| X | g.32491339T>G | CA412672049 | DMD | n.2767A>C c.2560A>C (p.Lys854Gln) c.2548A>C (p.Lys850Gln) c.94-126140A>C (n.94-126140A>C) c.94-126629A>C (n.94-126629A>C) n.336-274276A>C c.2536A>C (p.Lys846Gln) c.2191A>C (p.Lys731Gln) c.2431A>C (p.Lys811Gln) | |
| X | g.32491339_32491340del | CA2695232033 | DMD | n.2766_2767del c.2559_2560del (p.Lys854AsnfsTer13) c.2547_2548del (p.Lys850AsnfsTer13) c.94-126141_94-126140del (n.94-126141_94-126140del) c.94-126630_94-126629del (n.94-126630_94-126629del) n.336-274277_336-274276del c.2535_2536del (p.Lys846AsnfsTer13) c.2190_2191del (p.Lys731AsnfsTer13) c.2430_2431del (p.Lys811AsnfsTer13) |