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.32491351_32491352delinsCA | CA2422829126 | DMD | n.2754_2755delinsTG c.2547_2548delinsTG (p.Ala849=) c.2535_2536delinsTG (p.Ala845=) c.94-126153_94-126152delinsTG (n.94-126153_94-126152delinsTG) c.94-126642_94-126641delinsTG (n.94-126642_94-126641delinsTG) n.336-274289_336-274288delinsTG c.2523_2524delinsTG (p.Ala841=) c.2178_2179delinsTG (p.Ala726=) c.2418_2419delinsTG (p.Ala806=) | |
| X | g.32491352del | CA266947 | DMD | n.2754del c.2547del (p.Glu850LysfsTer4) c.2535del (p.Glu846LysfsTer4) c.94-126153del (n.94-126153del) c.94-126642del (n.94-126642del) n.336-274289del c.2523del (p.Glu842LysfsTer4) c.2178del (p.Glu727LysfsTer4) c.2418del (p.Glu807LysfsTer4) | ClinVar dbSNP |
| X | g.32491352A>C | CA515720003 | DMD | n.2754T>G c.2547T>G (p.Ala849=) c.2535T>G (p.Ala845=) c.94-126153T>G (n.94-126153T>G) c.94-126642T>G (n.94-126642T>G) n.336-274289T>G c.2523T>G (p.Ala841=) c.2178T>G (p.Ala726=) c.2418T>G (p.Ala806=) | |
| X | g.32491352A>G | CA515720004 | DMD | n.2754T>C c.2547T>C (p.Ala849=) c.2535T>C (p.Ala845=) c.94-126153T>C (n.94-126153T>C) c.94-126642T>C (n.94-126642T>C) n.336-274289T>C c.2523T>C (p.Ala841=) c.2178T>C (p.Ala726=) c.2418T>C (p.Ala806=) | |
| X | g.32491352A>T | CA515720005 | DMD | n.2754T>A c.2547T>A (p.Ala849=) c.2535T>A (p.Ala845=) c.94-126153T>A (n.94-126153T>A) c.94-126642T>A (n.94-126642T>A) n.336-274289T>A c.2523T>A (p.Ala841=) c.2178T>A (p.Ala726=) c.2418T>A (p.Ala806=) | |
| X | g.32491352_32491353delinsAG | CA2422829127 | DMD | n.2753_2754delinsCT c.2546_2547delinsCT (p.Ala849=) c.2534_2535delinsCT (p.Ala845=) c.94-126154_94-126153delinsCT (n.94-126154_94-126153delinsCT) c.94-126643_94-126642delinsCT (n.94-126643_94-126642delinsCT) n.336-274290_336-274289delinsCT c.2522_2523delinsCT (p.Ala841=) c.2177_2178delinsCT (p.Ala726=) c.2417_2418delinsCT (p.Ala806=) | |
| X | g.32491353del | CA916081261 | DMD | n.2753del c.2546del (p.Ala849ValfsTer5) c.2534del (p.Ala845ValfsTer5) c.94-126154del (n.94-126154del) c.94-126643del (n.94-126643del) n.336-274290del c.2522del (p.Ala841ValfsTer5) c.2177del (p.Ala726ValfsTer5) c.2417del (p.Ala806ValfsTer5) | ClinVar dbSNP |
| X | g.32491353G>A | CA412672111 | DMD | n.2753C>T c.2546C>T (p.Ala849Val) c.2534C>T (p.Ala845Val) c.94-126154C>T (n.94-126154C>T) c.94-126643C>T (n.94-126643C>T) n.336-274290C>T c.2522C>T (p.Ala841Val) c.2177C>T (p.Ala726Val) c.2417C>T (p.Ala806Val) | |
| X | g.32491353G>C | CA412672112 | DMD | n.2753C>G c.2546C>G (p.Ala849Gly) c.2534C>G (p.Ala845Gly) c.94-126154C>G (n.94-126154C>G) c.94-126643C>G (n.94-126643C>G) n.336-274290C>G c.2522C>G (p.Ala841Gly) c.2177C>G (p.Ala726Gly) c.2417C>G (p.Ala806Gly) | COSMIC COSMIC COSMIC |
| X | g.32491353G>T | CA412672114 | DMD | n.2753C>A c.2546C>A (p.Ala849Asp) c.2534C>A (p.Ala845Asp) c.94-126154C>A (n.94-126154C>A) c.94-126643C>A (n.94-126643C>A) n.336-274290C>A c.2522C>A (p.Ala841Asp) c.2177C>A (p.Ala726Asp) c.2417C>A (p.Ala806Asp) | COSMIC COSMIC COSMIC |
| X | g.32491354C>A | CA412672116 | DMD | n.2752G>T c.2545G>T (p.Ala849Ser) c.2533G>T (p.Ala845Ser) c.94-126155G>T (n.94-126155G>T) c.94-126644G>T (n.94-126644G>T) n.336-274291G>T c.2521G>T (p.Ala841Ser) c.2176G>T (p.Ala726Ser) c.2416G>T (p.Ala806Ser) | |
| X | g.32491354C>G | CA412672118 | DMD | n.2752G>C c.2545G>C (p.Ala849Pro) c.2533G>C (p.Ala845Pro) c.94-126155G>C (n.94-126155G>C) c.94-126644G>C (n.94-126644G>C) n.336-274291G>C c.2521G>C (p.Ala841Pro) c.2176G>C (p.Ala726Pro) c.2416G>C (p.Ala806Pro) | |
| X | g.32491354C>T | CA412672121 | DMD | n.2752G>A c.2545G>A (p.Ala849Thr) c.2533G>A (p.Ala845Thr) c.94-126155G>A (n.94-126155G>A) c.94-126644G>A (n.94-126644G>A) n.336-274291G>A c.2521G>A (p.Ala841Thr) c.2176G>A (p.Ala726Thr) c.2416G>A (p.Ala806Thr) | COSMIC COSMIC COSMIC |
| X | g.32491355A= | CA2422829128 | DMD | n.2751T= c.2544T= (p.Thr848=) c.2532T= (p.Thr844=) c.94-126156T= (n.94-126156T=) c.94-126645T= (n.94-126645T=) n.336-274292T= c.2520T= (p.Thr840=) c.2175T= (p.Thr725=) c.2415T= (p.Thr805=) | |
| X | g.32491355A>C | CA515720007 | DMD | n.2751T>G c.2544T>G (p.Thr848=) c.2532T>G (p.Thr844=) c.94-126156T>G (n.94-126156T>G) c.94-126645T>G (n.94-126645T>G) n.336-274292T>G c.2520T>G (p.Thr840=) c.2175T>G (p.Thr725=) c.2415T>G (p.Thr805=) | |
| X | g.32491355A>G | CA515720008 | DMD | n.2751T>C c.2544T>C (p.Thr848=) c.2532T>C (p.Thr844=) c.94-126156T>C (n.94-126156T>C) c.94-126645T>C (n.94-126645T>C) n.336-274292T>C c.2520T>C (p.Thr840=) c.2175T>C (p.Thr725=) c.2415T>C (p.Thr805=) | dbSNP gnomAD v4 |
| X | g.32491355A>T | CA515720006 | DMD | n.2751T>A c.2544T>A (p.Thr848=) c.2532T>A (p.Thr844=) c.94-126156T>A (n.94-126156T>A) c.94-126645T>A (n.94-126645T>A) n.336-274292T>A c.2520T>A (p.Thr840=) c.2175T>A (p.Thr725=) c.2415T>A (p.Thr805=) | |
| X | g.32491358_32491360del | CA2580616944 | DMD | n.2749_2751del c.2542_2544del (p.Thr848del) c.2530_2532del (p.Thr844del) c.94-126158_94-126156del (n.94-126158_94-126156del) c.94-126647_94-126645del (n.94-126647_94-126645del) n.336-274294_336-274292del c.2518_2520del (p.Thr840del) c.2173_2175del (p.Thr725del) c.2413_2415del (p.Thr805del) | ClinVar |
| X | g.32491356G>A | CA412672124 | DMD | n.2750C>T c.2543C>T (p.Thr848Ile) c.2531C>T (p.Thr844Ile) c.94-126157C>T (n.94-126157C>T) c.94-126646C>T (n.94-126646C>T) n.336-274293C>T c.2519C>T (p.Thr840Ile) c.2174C>T (p.Thr725Ile) c.2414C>T (p.Thr805Ile) | |
| X | g.32491356G>C | CA412672122 | DMD | n.2750C>G c.2543C>G (p.Thr848Ser) c.2531C>G (p.Thr844Ser) c.94-126157C>G (n.94-126157C>G) c.94-126646C>G (n.94-126646C>G) n.336-274293C>G c.2519C>G (p.Thr840Ser) c.2174C>G (p.Thr725Ser) c.2414C>G (p.Thr805Ser) | |
| X | g.32491356G>T | CA412672123 | DMD | n.2750C>A c.2543C>A (p.Thr848Asn) c.2531C>A (p.Thr844Asn) c.94-126157C>A (n.94-126157C>A) c.94-126646C>A (n.94-126646C>A) n.336-274293C>A c.2519C>A (p.Thr840Asn) c.2174C>A (p.Thr725Asn) c.2414C>A (p.Thr805Asn) | |
| X | g.32491357T>A | CA328019871 | DMD | n.2749A>T c.2542A>T (p.Thr848Ser) c.2530A>T (p.Thr844Ser) c.94-126158A>T (n.94-126158A>T) c.94-126647A>T (n.94-126647A>T) n.336-274294A>T c.2518A>T (p.Thr840Ser) c.2173A>T (p.Thr725Ser) c.2413A>T (p.Thr805Ser) | dbSNP |
| X | g.32491357T>C | CA412672126 | DMD | n.2749A>G c.2542A>G (p.Thr848Ala) c.2530A>G (p.Thr844Ala) c.94-126158A>G (n.94-126158A>G) c.94-126647A>G (n.94-126647A>G) n.336-274294A>G c.2518A>G (p.Thr840Ala) c.2173A>G (p.Thr725Ala) c.2413A>G (p.Thr805Ala) | |
| X | g.32491357T>G | CA412672128 | DMD | n.2749A>C c.2542A>C (p.Thr848Pro) c.2530A>C (p.Thr844Pro) c.94-126158A>C (n.94-126158A>C) c.94-126647A>C (n.94-126647A>C) n.336-274294A>C c.2518A>C (p.Thr840Pro) c.2173A>C (p.Thr725Pro) c.2413A>C (p.Thr805Pro) | gnomAD v4 |
| X | g.32491357T= | CA2422829129 | DMD | n.2749A= c.2542A= (p.Thr848=) c.2530A= (p.Thr844=) c.94-126158A= (n.94-126158A=) c.94-126647A= (n.94-126647A=) n.336-274294A= c.2518A= (p.Thr840=) c.2173A= (p.Thr725=) c.2413A= (p.Thr805=) | |
| X | g.32491358A>C | CA515720009 | DMD | n.2748T>G c.2541T>G (p.Thr847=) c.2529T>G (p.Thr843=) c.94-126159T>G (n.94-126159T>G) c.94-126648T>G (n.94-126648T>G) n.336-274295T>G c.2517T>G (p.Thr839=) c.2172T>G (p.Thr724=) c.2412T>G (p.Thr804=) | |
| X | g.32491358A>G | CA515720010 | DMD | n.2748T>C c.2541T>C (p.Thr847=) c.2529T>C (p.Thr843=) c.94-126159T>C (n.94-126159T>C) c.94-126648T>C (n.94-126648T>C) n.336-274295T>C c.2517T>C (p.Thr839=) c.2172T>C (p.Thr724=) c.2412T>C (p.Thr804=) | |
| X | g.32491358A>T | CA515720011 | DMD | n.2748T>A c.2541T>A (p.Thr847=) c.2529T>A (p.Thr843=) c.94-126159T>A (n.94-126159T>A) c.94-126648T>A (n.94-126648T>A) n.336-274295T>A c.2517T>A (p.Thr839=) c.2172T>A (p.Thr724=) c.2412T>A (p.Thr804=) | |
| X | g.32491359G>A | CA412672131 | DMD | n.2747C>T c.2540C>T (p.Thr847Ile) c.2528C>T (p.Thr843Ile) c.94-126160C>T (n.94-126160C>T) c.94-126649C>T (n.94-126649C>T) n.336-274296C>T c.2516C>T (p.Thr839Ile) c.2171C>T (p.Thr724Ile) c.2411C>T (p.Thr804Ile) | |
| X | g.32491359G>C | CA412672133 | DMD | n.2747C>G c.2540C>G (p.Thr847Ser) c.2528C>G (p.Thr843Ser) c.94-126160C>G (n.94-126160C>G) c.94-126649C>G (n.94-126649C>G) n.336-274296C>G c.2516C>G (p.Thr839Ser) c.2171C>G (p.Thr724Ser) c.2411C>G (p.Thr804Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32491359G= | CA2422829130 | DMD | n.2747C= c.2540C= (p.Thr847=) c.2528C= (p.Thr843=) c.94-126160C= (n.94-126160C=) c.94-126649C= (n.94-126649C=) n.336-274296C= c.2516C= (p.Thr839=) c.2171C= (p.Thr724=) c.2411C= (p.Thr804=) | |
| X | g.32491359G>T | CA412672134 | DMD | n.2747C>A c.2540C>A (p.Thr847Asn) c.2528C>A (p.Thr843Asn) c.94-126160C>A (n.94-126160C>A) c.94-126649C>A (n.94-126649C>A) n.336-274296C>A c.2516C>A (p.Thr839Asn) c.2171C>A (p.Thr724Asn) c.2411C>A (p.Thr804Asn) | |
| X | g.32491360T>A | CA412672137 | DMD | n.2746A>T c.2539A>T (p.Thr847Ser) c.2527A>T (p.Thr843Ser) c.94-126161A>T (n.94-126161A>T) c.94-126650A>T (n.94-126650A>T) n.336-274297A>T c.2515A>T (p.Thr839Ser) c.2170A>T (p.Thr724Ser) c.2410A>T (p.Thr804Ser) | |
| X | g.32491360T>C | CA241939 | DMD | n.2746A>G c.2539A>G (p.Thr847Ala) c.2527A>G (p.Thr843Ala) c.94-126161A>G (n.94-126161A>G) c.94-126650A>G (n.94-126650A>G) n.336-274297A>G c.2515A>G (p.Thr839Ala) c.2170A>G (p.Thr724Ala) c.2410A>G (p.Thr804Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32491360T>G | CA412672139 | DMD | n.2746A>C c.2539A>C (p.Thr847Pro) c.2527A>C (p.Thr843Pro) c.94-126161A>C (n.94-126161A>C) c.94-126650A>C (n.94-126650A>C) n.336-274297A>C c.2515A>C (p.Thr839Pro) c.2170A>C (p.Thr724Pro) c.2410A>C (p.Thr804Pro) | |
| X | g.32491360T= | CA2422829131 | DMD | n.2746A= c.2539A= (p.Thr847=) c.2527A= (p.Thr843=) c.94-126161A= (n.94-126161A=) c.94-126650A= (n.94-126650A=) n.336-274297A= c.2515A= (p.Thr839=) c.2170A= (p.Thr724=) c.2410A= (p.Thr804=) | |
| X | g.32491361dup | CA2739273372 | DMD | n.2746dup c.2539dup (p.Thr847AsnfsTer4) c.2527dup (p.Thr843AsnfsTer4) c.94-126161dup (n.94-126161dup) c.94-126650dup (n.94-126650dup) n.336-274297dup c.2515dup (p.Thr839AsnfsTer4) c.2170dup (p.Thr724AsnfsTer4) c.2410dup (p.Thr804AsnfsTer4) | ClinVar |
| X | g.32491361T>A | CA515720012 | DMD | n.2745A>T c.2538A>T (p.Thr846=) c.2526A>T (p.Thr842=) c.94-126162A>T (n.94-126162A>T) c.94-126651A>T (n.94-126651A>T) n.336-274298A>T c.2514A>T (p.Thr838=) c.2169A>T (p.Thr723=) c.2409A>T (p.Thr803=) | |
| X | g.32491361T>C | CA515720013 | DMD | n.2745A>G c.2538A>G (p.Thr846=) c.2526A>G (p.Thr842=) c.94-126162A>G (n.94-126162A>G) c.94-126651A>G (n.94-126651A>G) n.336-274298A>G c.2514A>G (p.Thr838=) c.2169A>G (p.Thr723=) c.2409A>G (p.Thr803=) | |
| X | g.32491361T>G | CA515720014 | DMD | n.2745A>C c.2538A>C (p.Thr846=) c.2526A>C (p.Thr842=) c.94-126162A>C (n.94-126162A>C) c.94-126651A>C (n.94-126651A>C) n.336-274298A>C c.2514A>C (p.Thr838=) c.2169A>C (p.Thr723=) c.2409A>C (p.Thr803=) | |
| X | g.32491362G>A | CA412672140 | DMD | n.2744C>T c.2537C>T (p.Thr846Ile) c.2525C>T (p.Thr842Ile) c.94-126163C>T (n.94-126163C>T) c.94-126652C>T (n.94-126652C>T) n.336-274299C>T c.2513C>T (p.Thr838Ile) c.2168C>T (p.Thr723Ile) c.2408C>T (p.Thr803Ile) | |
| X | g.32491362G>C | CA10379497 | DMD | n.2744C>G c.2537C>G (p.Thr846Arg) c.2525C>G (p.Thr842Arg) c.94-126163C>G (n.94-126163C>G) c.94-126652C>G (n.94-126652C>G) n.336-274299C>G c.2513C>G (p.Thr838Arg) c.2168C>G (p.Thr723Arg) c.2408C>G (p.Thr803Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32491362G= | CA2422829132 | DMD | n.2744C= c.2537C= (p.Thr846=) c.2525C= (p.Thr842=) c.94-126163C= (n.94-126163C=) c.94-126652C= (n.94-126652C=) n.336-274299C= c.2513C= (p.Thr838=) c.2168C= (p.Thr723=) c.2408C= (p.Thr803=) | |
| X | g.32491362G>T | CA412672142 | DMD | n.2744C>A c.2537C>A (p.Thr846Lys) c.2525C>A (p.Thr842Lys) c.94-126163C>A (n.94-126163C>A) c.94-126652C>A (n.94-126652C>A) n.336-274299C>A c.2513C>A (p.Thr838Lys) c.2168C>A (p.Thr723Lys) c.2408C>A (p.Thr803Lys) | |
| X | g.32491363T>A | CA412672144 | DMD | n.2743A>T c.2536A>T (p.Thr846Ser) c.2524A>T (p.Thr842Ser) c.94-126164A>T (n.94-126164A>T) c.94-126653A>T (n.94-126653A>T) n.336-274300A>T c.2512A>T (p.Thr838Ser) c.2167A>T (p.Thr723Ser) c.2407A>T (p.Thr803Ser) | |
| X | g.32491363T>C | CA412672147 | DMD | n.2743A>G c.2536A>G (p.Thr846Ala) c.2524A>G (p.Thr842Ala) c.94-126164A>G (n.94-126164A>G) c.94-126653A>G (n.94-126653A>G) n.336-274300A>G c.2512A>G (p.Thr838Ala) c.2167A>G (p.Thr723Ala) c.2407A>G (p.Thr803Ala) | |
| X | g.32491363T>G | CA412672145 | DMD | n.2743A>C c.2536A>C (p.Thr846Pro) c.2524A>C (p.Thr842Pro) c.94-126164A>C (n.94-126164A>C) c.94-126653A>C (n.94-126653A>C) n.336-274300A>C c.2512A>C (p.Thr838Pro) c.2167A>C (p.Thr723Pro) c.2407A>C (p.Thr803Pro) | |
| X | g.32491364C>A | CA412672149 | DMD | n.2742G>T c.2535G>T (p.Met845Ile) c.2523G>T (p.Met841Ile) c.94-126165G>T (n.94-126165G>T) c.94-126654G>T (n.94-126654G>T) n.336-274301G>T c.2511G>T (p.Met837Ile) c.2166G>T (p.Met722Ile) c.2406G>T (p.Met802Ile) | |
| X | g.32491364C>G | CA412672152 | DMD | n.2742G>C c.2535G>C (p.Met845Ile) c.2523G>C (p.Met841Ile) c.94-126165G>C (n.94-126165G>C) c.94-126654G>C (n.94-126654G>C) n.336-274301G>C c.2511G>C (p.Met837Ile) c.2166G>C (p.Met722Ile) c.2406G>C (p.Met802Ile) | |
| X | g.32491364C>T | CA412672150 | DMD | n.2742G>A c.2535G>A (p.Met845Ile) c.2523G>A (p.Met841Ile) c.94-126165G>A (n.94-126165G>A) c.94-126654G>A (n.94-126654G>A) n.336-274301G>A c.2511G>A (p.Met837Ile) c.2166G>A (p.Met722Ile) c.2406G>A (p.Met802Ile) |