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.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.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) | |
| X | g.32491340C>A | CA412672052 | DMD | n.2766G>T c.2559G>T (p.Leu853Phe) c.2547G>T (p.Leu849Phe) c.94-126141G>T (n.94-126141G>T) c.94-126630G>T (n.94-126630G>T) n.336-274277G>T c.2535G>T (p.Leu845Phe) c.2190G>T (p.Leu730Phe) c.2430G>T (p.Leu810Phe) | |
| X | g.32491340C>G | CA412672054 | DMD | n.2766G>C c.2559G>C (p.Leu853Phe) c.2547G>C (p.Leu849Phe) c.94-126141G>C (n.94-126141G>C) c.94-126630G>C (n.94-126630G>C) n.336-274277G>C c.2535G>C (p.Leu845Phe) c.2190G>C (p.Leu730Phe) c.2430G>C (p.Leu810Phe) | |
| X | g.32491340C>T | CA515720000 | DMD | n.2766G>A c.2559G>A (p.Leu853=) c.2547G>A (p.Leu849=) c.94-126141G>A (n.94-126141G>A) c.94-126630G>A (n.94-126630G>A) n.336-274277G>A c.2535G>A (p.Leu845=) c.2190G>A (p.Leu730=) c.2430G>A (p.Leu810=) | COSMIC COSMIC COSMIC |
| X | g.32491341A>C | CA412672061 | DMD | n.2765T>G c.2558T>G (p.Leu853Trp) c.2546T>G (p.Leu849Trp) c.94-126142T>G (n.94-126142T>G) c.94-126631T>G (n.94-126631T>G) n.336-274278T>G c.2534T>G (p.Leu845Trp) c.2189T>G (p.Leu730Trp) c.2429T>G (p.Leu810Trp) | ClinVar dbSNP |
| X | g.32491341A>G | CA412672059 | DMD | n.2765T>C c.2558T>C (p.Leu853Ser) c.2546T>C (p.Leu849Ser) c.94-126142T>C (n.94-126142T>C) c.94-126631T>C (n.94-126631T>C) n.336-274278T>C c.2534T>C (p.Leu845Ser) c.2189T>C (p.Leu730Ser) c.2429T>C (p.Leu810Ser) | |
| X | g.32491341A>T | CA412672057 | DMD | n.2765T>A c.2558T>A (p.Leu853Ter) c.2546T>A (p.Leu849Ter) c.94-126142T>A (n.94-126142T>A) c.94-126631T>A (n.94-126631T>A) n.336-274278T>A c.2534T>A (p.Leu845Ter) c.2189T>A (p.Leu730Ter) c.2429T>A (p.Leu810Ter) | dbSNP |
| X | g.32491342A= | CA2422829120 | DMD | n.2764T= c.2557T= (p.Leu853=) c.2545T= (p.Leu849=) c.94-126143T= (n.94-126143T=) c.94-126632T= (n.94-126632T=) n.336-274279T= c.2533T= (p.Leu845=) c.2188T= (p.Leu730=) c.2428T= (p.Leu810=) | |
| X | g.32491342A>C | CA412672063 | DMD | n.2764T>G c.2557T>G (p.Leu853Val) c.2545T>G (p.Leu849Val) c.94-126143T>G (n.94-126143T>G) c.94-126632T>G (n.94-126632T>G) n.336-274279T>G c.2533T>G (p.Leu845Val) c.2188T>G (p.Leu730Val) c.2428T>G (p.Leu810Val) | |
| X | g.32491342A>G | CA10379495 | DMD | n.2764T>C c.2557T>C (p.Leu853=) c.2545T>C (p.Leu849=) c.94-126143T>C (n.94-126143T>C) c.94-126632T>C (n.94-126632T>C) n.336-274279T>C c.2533T>C (p.Leu845=) c.2188T>C (p.Leu730=) c.2428T>C (p.Leu810=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32491342A>T | CA412672066 | DMD | n.2764T>A c.2557T>A (p.Leu853Met) c.2545T>A (p.Leu849Met) c.94-126143T>A (n.94-126143T>A) c.94-126632T>A (n.94-126632T>A) n.336-274279T>A c.2533T>A (p.Leu845Met) c.2188T>A (p.Leu730Met) c.2428T>A (p.Leu810Met) | |
| X | g.32491343C>A | CA412672068 | DMD | n.2763G>T c.2556G>T (p.Trp852Cys) c.2544G>T (p.Trp848Cys) c.94-126144G>T (n.94-126144G>T) c.94-126633G>T (n.94-126633G>T) n.336-274280G>T c.2532G>T (p.Trp844Cys) c.2187G>T (p.Trp729Cys) c.2427G>T (p.Trp809Cys) | ClinVar dbSNP |
| X | g.32491343C= | CA2422829121 | DMD | n.2763G= c.2556G= (p.Trp852=) c.2544G= (p.Trp848=) c.94-126144G= (n.94-126144G=) c.94-126633G= (n.94-126633G=) n.336-274280G= c.2532G= (p.Trp844=) c.2187G= (p.Trp729=) c.2427G= (p.Trp809=) | |
| X | g.32491343C>G | CA412672070 | DMD | n.2763G>C c.2556G>C (p.Trp852Cys) c.2544G>C (p.Trp848Cys) c.94-126144G>C (n.94-126144G>C) c.94-126633G>C (n.94-126633G>C) n.336-274280G>C c.2532G>C (p.Trp844Cys) c.2187G>C (p.Trp729Cys) c.2427G>C (p.Trp809Cys) | |
| X | g.32491343C>T | CA412672072 | DMD | n.2763G>A c.2556G>A (p.Trp852Ter) c.2544G>A (p.Trp848Ter) c.94-126144G>A (n.94-126144G>A) c.94-126633G>A (n.94-126633G>A) n.336-274280G>A c.2532G>A (p.Trp844Ter) c.2187G>A (p.Trp729Ter) c.2427G>A (p.Trp809Ter) | ClinVar dbSNP |
| X | g.32491344C>A | CA412672074 | DMD | n.2762G>T c.2555G>T (p.Trp852Leu) c.2543G>T (p.Trp848Leu) c.94-126145G>T (n.94-126145G>T) c.94-126634G>T (n.94-126634G>T) n.336-274281G>T c.2531G>T (p.Trp844Leu) c.2186G>T (p.Trp729Leu) c.2426G>T (p.Trp809Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.32491344C= | CA2422829122 | DMD | n.2762G= c.2555G= (p.Trp852=) c.2543G= (p.Trp848=) c.94-126145G= (n.94-126145G=) c.94-126634G= (n.94-126634G=) n.336-274281G= c.2531G= (p.Trp844=) c.2186G= (p.Trp729=) c.2426G= (p.Trp809=) | |
| X | g.32491344C>G | CA412672076 | DMD | n.2762G>C c.2555G>C (p.Trp852Ser) c.2543G>C (p.Trp848Ser) c.94-126145G>C (n.94-126145G>C) c.94-126634G>C (n.94-126634G>C) n.336-274281G>C c.2531G>C (p.Trp844Ser) c.2186G>C (p.Trp729Ser) c.2426G>C (p.Trp809Ser) | |
| X | g.32491344C>T | CA16621364 | DMD | n.2762G>A c.2555G>A (p.Trp852Ter) c.2543G>A (p.Trp848Ter) c.94-126145G>A (n.94-126145G>A) c.94-126634G>A (n.94-126634G>A) n.336-274281G>A c.2531G>A (p.Trp844Ter) c.2186G>A (p.Trp729Ter) c.2426G>A (p.Trp809Ter) | ClinVar dbSNP |
| X | g.32491345A>C | CA412672077 | DMD | n.2761T>G c.2554T>G (p.Trp852Gly) c.2542T>G (p.Trp848Gly) c.94-126146T>G (n.94-126146T>G) c.94-126635T>G (n.94-126635T>G) n.336-274282T>G c.2530T>G (p.Trp844Gly) c.2185T>G (p.Trp729Gly) c.2425T>G (p.Trp809Gly) | |
| X | g.32491345A>G | CA412672078 | DMD | n.2761T>C c.2554T>C (p.Trp852Arg) c.2542T>C (p.Trp848Arg) c.94-126146T>C (n.94-126146T>C) c.94-126635T>C (n.94-126635T>C) n.336-274282T>C c.2530T>C (p.Trp844Arg) c.2185T>C (p.Trp729Arg) c.2425T>C (p.Trp809Arg) | |
| X | g.32491345A>T | CA412672080 | DMD | n.2761T>A c.2554T>A (p.Trp852Arg) c.2542T>A (p.Trp848Arg) c.94-126146T>A (n.94-126146T>A) c.94-126635T>A (n.94-126635T>A) n.336-274282T>A c.2530T>A (p.Trp844Arg) c.2185T>A (p.Trp729Arg) c.2425T>A (p.Trp809Arg) | |
| X | g.32491346G>A | CA515720001 | DMD | n.2760C>T c.2553C>T (p.Asn851=) c.2541C>T (p.Asn847=) c.94-126147C>T (n.94-126147C>T) c.94-126636C>T (n.94-126636C>T) n.336-274283C>T c.2529C>T (p.Asn843=) c.2184C>T (p.Asn728=) c.2424C>T (p.Asn808=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.32491346G>C | CA412672082 | DMD | n.2760C>G c.2553C>G (p.Asn851Lys) c.2541C>G (p.Asn847Lys) c.94-126147C>G (n.94-126147C>G) c.94-126636C>G (n.94-126636C>G) n.336-274283C>G c.2529C>G (p.Asn843Lys) c.2184C>G (p.Asn728Lys) c.2424C>G (p.Asn808Lys) | ClinVar gnomAD v4 |
| X | g.32491346G= | CA2422829123 | DMD | n.2760C= c.2553C= (p.Asn851=) c.2541C= (p.Asn847=) c.94-126147C= (n.94-126147C=) c.94-126636C= (n.94-126636C=) n.336-274283C= c.2529C= (p.Asn843=) c.2184C= (p.Asn728=) c.2424C= (p.Asn808=) | |
| X | g.32491346G>T | CA412672083 | DMD | n.2760C>A c.2553C>A (p.Asn851Lys) c.2541C>A (p.Asn847Lys) c.94-126147C>A (n.94-126147C>A) c.94-126636C>A (n.94-126636C>A) n.336-274283C>A c.2529C>A (p.Asn843Lys) c.2184C>A (p.Asn728Lys) c.2424C>A (p.Asn808Lys) | |
| X | g.32491347T>A | CA412672085 | DMD | n.2759A>T c.2552A>T (p.Asn851Ile) c.2540A>T (p.Asn847Ile) c.94-126148A>T (n.94-126148A>T) c.94-126637A>T (n.94-126637A>T) n.336-274284A>T c.2528A>T (p.Asn843Ile) c.2183A>T (p.Asn728Ile) c.2423A>T (p.Asn808Ile) | |
| X | g.32491347T>C | CA412672087 | DMD | n.2759A>G c.2552A>G (p.Asn851Ser) c.2540A>G (p.Asn847Ser) c.94-126148A>G (n.94-126148A>G) c.94-126637A>G (n.94-126637A>G) n.336-274284A>G c.2528A>G (p.Asn843Ser) c.2183A>G (p.Asn728Ser) c.2423A>G (p.Asn808Ser) | gnomAD v4 |
| X | g.32491347T>G | CA412672089 | DMD | n.2759A>C c.2552A>C (p.Asn851Thr) c.2540A>C (p.Asn847Thr) c.94-126148A>C (n.94-126148A>C) c.94-126637A>C (n.94-126637A>C) n.336-274284A>C c.2528A>C (p.Asn843Thr) c.2183A>C (p.Asn728Thr) c.2423A>C (p.Asn808Thr) |