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.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.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) | |
| X | g.32491348T>A | CA412672090 | DMD | n.2758A>T c.2551A>T (p.Asn851Tyr) c.2539A>T (p.Asn847Tyr) c.94-126149A>T (n.94-126149A>T) c.94-126638A>T (n.94-126638A>T) n.336-274285A>T c.2527A>T (p.Asn843Tyr) c.2182A>T (p.Asn728Tyr) c.2422A>T (p.Asn808Tyr) | |
| X | g.32491348T>C | CA412672092 | DMD | n.2758A>G c.2551A>G (p.Asn851Asp) c.2539A>G (p.Asn847Asp) c.94-126149A>G (n.94-126149A>G) c.94-126638A>G (n.94-126638A>G) n.336-274285A>G c.2527A>G (p.Asn843Asp) c.2182A>G (p.Asn728Asp) c.2422A>G (p.Asn808Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.32491348T>G | CA10379496 | DMD | n.2758A>C c.2551A>C (p.Asn851His) c.2539A>C (p.Asn847His) c.94-126149A>C (n.94-126149A>C) c.94-126638A>C (n.94-126638A>C) n.336-274285A>C c.2527A>C (p.Asn843His) c.2182A>C (p.Asn728His) c.2422A>C (p.Asn808His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32491348T= | CA2422829124 | DMD | n.2758A= c.2551A= (p.Asn851=) c.2539A= (p.Asn847=) c.94-126149A= (n.94-126149A=) c.94-126638A= (n.94-126638A=) n.336-274285A= c.2527A= (p.Asn843=) c.2182A= (p.Asn728=) c.2422A= (p.Asn808=) | |
| X | g.32491349T>A | CA412672095 | DMD | n.2757A>T c.2550A>T (p.Glu850Asp) c.2538A>T (p.Glu846Asp) c.94-126150A>T (n.94-126150A>T) c.94-126639A>T (n.94-126639A>T) n.336-274286A>T c.2526A>T (p.Glu842Asp) c.2181A>T (p.Glu727Asp) c.2421A>T (p.Glu807Asp) | |
| X | g.32491349T>C | CA515720002 | DMD | n.2757A>G c.2550A>G (p.Glu850=) c.2538A>G (p.Glu846=) c.94-126150A>G (n.94-126150A>G) c.94-126639A>G (n.94-126639A>G) n.336-274286A>G c.2526A>G (p.Glu842=) c.2181A>G (p.Glu727=) c.2421A>G (p.Glu807=) | |
| X | g.32491349T>G | CA412672097 | DMD | n.2757A>C c.2550A>C (p.Glu850Asp) c.2538A>C (p.Glu846Asp) c.94-126150A>C (n.94-126150A>C) c.94-126639A>C (n.94-126639A>C) n.336-274286A>C c.2526A>C (p.Glu842Asp) c.2181A>C (p.Glu727Asp) c.2421A>C (p.Glu807Asp) | |
| X | g.32491350T>A | CA412672099 | DMD | n.2756A>T c.2549A>T (p.Glu850Val) c.2537A>T (p.Glu846Val) c.94-126151A>T (n.94-126151A>T) c.94-126640A>T (n.94-126640A>T) n.336-274287A>T c.2525A>T (p.Glu842Val) c.2180A>T (p.Glu727Val) c.2420A>T (p.Glu807Val) | |
| X | g.32491350T>C | CA412672101 | DMD | n.2756A>G c.2549A>G (p.Glu850Gly) c.2537A>G (p.Glu846Gly) c.94-126151A>G (n.94-126151A>G) c.94-126640A>G (n.94-126640A>G) n.336-274287A>G c.2525A>G (p.Glu842Gly) c.2180A>G (p.Glu727Gly) c.2420A>G (p.Glu807Gly) | dbSNP |
| X | g.32491350T>G | CA412672103 | DMD | n.2756A>C c.2549A>C (p.Glu850Ala) c.2537A>C (p.Glu846Ala) c.94-126151A>C (n.94-126151A>C) c.94-126640A>C (n.94-126640A>C) n.336-274287A>C c.2525A>C (p.Glu842Ala) c.2180A>C (p.Glu727Ala) c.2420A>C (p.Glu807Ala) | |
| X | g.32491350T= | CA2422829125 | DMD | n.2756A= c.2549A= (p.Glu850=) c.2537A= (p.Glu846=) c.94-126151A= (n.94-126151A=) c.94-126640A= (n.94-126640A=) n.336-274287A= c.2525A= (p.Glu842=) c.2180A= (p.Glu727=) c.2420A= (p.Glu807=) | |
| X | g.32491351C>A | CA412672105 | DMD | n.2755G>T c.2548G>T (p.Glu850Ter) c.2536G>T (p.Glu846Ter) c.94-126152G>T (n.94-126152G>T) c.94-126641G>T (n.94-126641G>T) n.336-274288G>T c.2524G>T (p.Glu842Ter) c.2179G>T (p.Glu727Ter) c.2419G>T (p.Glu807Ter) | |
| X | g.32491351C>G | CA412672106 | DMD | n.2755G>C c.2548G>C (p.Glu850Gln) c.2536G>C (p.Glu846Gln) c.94-126152G>C (n.94-126152G>C) c.94-126641G>C (n.94-126641G>C) n.336-274288G>C c.2524G>C (p.Glu842Gln) c.2179G>C (p.Glu727Gln) c.2419G>C (p.Glu807Gln) | |
| X | g.32491351C>T | CA412672108 | DMD | n.2755G>A c.2548G>A (p.Glu850Lys) c.2536G>A (p.Glu846Lys) c.94-126152G>A (n.94-126152G>A) c.94-126641G>A (n.94-126641G>A) n.336-274288G>A c.2524G>A (p.Glu842Lys) c.2179G>A (p.Glu727Lys) c.2419G>A (p.Glu807Lys) |