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 |
|---|---|---|---|---|---|
| 4 | g.1001690_1001707dup | CA2669479316 | IDUA | c.601_618dup (p.Ser206_Glu207insTyrTyrAspAlaCysSer) n.657_674dup c.460_477dup (p.Ser159_Glu160insTyrTyrAspAlaCysSer) c.561_578dup c.394_411dup (p.Ser137_Glu138insTyrTyrAspAlaCysSer) c.418_435dup (p.Ser145_Glu146insTyrTyrAspAlaCysSer) c.205_222dup (p.Ser74_Glu75insTyrTyrAspAlaCysSer) n.501_518dup n.689_706dup c.313_330dup (p.Ser110_Glu111insTyrTyrAspAlaCysSer) n.670_687dup c.-360_-343dup (n.-360_-343dup) | gnomAD v4 |
| 4 | g.1001697_1001720del | CA2669479337 | IDUA | c.608_631del (p.Asp203_Arg210del) n.664_687del c.467_490del (p.Asp156_Arg163del) c.401_424del (p.Asp134_Arg141del) c.425_448del (p.Asp142_Arg149del) c.212_235del (p.Asp71_Arg78del) n.508_531del n.696_719del c.320_343del (p.Asp107_Arg114del) n.677_700del c.-353_-330del (n.-353_-330del) | gnomAD v4 |
| 4 | g.1001707G>A | CA2802034 | IDUA | c.618G>A (p.Ser206=) n.674G>A c.477G>A (p.Ser159=) c.578G>A c.411G>A (p.Ser137=) c.435G>A (p.Ser145=) c.222G>A (p.Ser74=) n.518G>A n.706G>A c.330G>A (p.Ser110=) n.687G>A c.-343G>A (n.-343G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1001707G>C | CA438057210 | IDUA | c.618G>C (p.Ser206=) n.674G>C c.477G>C (p.Ser159=) c.578G>C c.411G>C (p.Ser137=) c.435G>C (p.Ser145=) c.222G>C (p.Ser74=) n.518G>C n.706G>C c.330G>C (p.Ser110=) n.687G>C c.-343G>C (n.-343G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1001707G= | CA1433067727 | IDUA | c.618G= (p.Ser206=) n.674G= c.477G= (p.Ser159=) c.578G= c.411G= (p.Ser137=) c.435G= (p.Ser145=) c.222G= (p.Ser74=) n.518G= n.706G= c.330G= (p.Ser110=) n.687G= c.-343G= (n.-343G=) | |
| 4 | g.1001707G>T | CA438057211 | IDUA | c.618G>T (p.Ser206=) n.674G>T c.477G>T (p.Ser159=) c.578G>T c.411G>T (p.Ser137=) c.435G>T (p.Ser145=) c.222G>T (p.Ser74=) n.518G>T n.706G>T c.330G>T (p.Ser110=) n.687G>T c.-343G>T (n.-343G>T) | ClinVar dbSNP gnomAD v4 |
| 4 | g.1001708G>A | CA355961937 | IDUA | c.619G>A (p.Glu207Lys) n.675G>A c.478G>A (p.Glu160Lys) c.579G>A c.412G>A (p.Glu138Lys) c.436G>A (p.Glu146Lys) c.223G>A (p.Glu75Lys) n.519G>A n.707G>A c.331G>A (p.Glu111Lys) n.688G>A c.-342G>A (n.-342G>A) | |
| 4 | g.1001708G>C | CA355961938 | IDUA | c.619G>C (p.Glu207Gln) n.675G>C c.478G>C (p.Glu160Gln) c.579G>C c.412G>C (p.Glu138Gln) c.436G>C (p.Glu146Gln) c.223G>C (p.Glu75Gln) n.519G>C n.707G>C c.331G>C (p.Glu111Gln) n.688G>C c.-342G>C (n.-342G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.1001708G= | CA1433067732 | IDUA | c.619G= (p.Glu207=) n.675G= c.478G= (p.Glu160=) c.579G= c.412G= (p.Glu138=) c.436G= (p.Glu146=) c.223G= (p.Glu75=) n.519G= n.707G= c.331G= (p.Glu111=) n.688G= c.-342G= (n.-342G=) | |
| 4 | g.1001708G>T | CA355961939 | IDUA | c.619G>T (p.Glu207Ter) n.675G>T c.478G>T (p.Glu160Ter) c.579G>T c.412G>T (p.Glu138Ter) c.436G>T (p.Glu146Ter) c.223G>T (p.Glu75Ter) n.519G>T n.707G>T c.331G>T (p.Glu111Ter) n.688G>T c.-342G>T (n.-342G>T) | gnomAD v4 |
| 4 | g.1001709A>C | CA355961940 | IDUA | c.620A>C (p.Glu207Ala) n.676A>C c.479A>C (p.Glu160Ala) c.580A>C c.413A>C (p.Glu138Ala) c.437A>C (p.Glu146Ala) c.224A>C (p.Glu75Ala) n.520A>C n.708A>C c.332A>C (p.Glu111Ala) n.689A>C c.-341A>C (n.-341A>C) | |
| 4 | g.1001709A>G | CA355961941 | IDUA | c.620A>G (p.Glu207Gly) n.676A>G c.479A>G (p.Glu160Gly) c.580A>G c.413A>G (p.Glu138Gly) c.437A>G (p.Glu146Gly) c.224A>G (p.Glu75Gly) n.520A>G n.708A>G c.332A>G (p.Glu111Gly) n.689A>G c.-341A>G (n.-341A>G) | gnomAD v4 COSMIC COSMIC |
| 4 | g.1001709A>T | CA355961942 | IDUA | c.620A>T (p.Glu207Val) n.676A>T c.479A>T (p.Glu160Val) c.580A>T c.413A>T (p.Glu138Val) c.437A>T (p.Glu146Val) c.224A>T (p.Glu75Val) n.520A>T n.708A>T c.332A>T (p.Glu111Val) n.689A>T c.-341A>T (n.-341A>T) | |
| 4 | g.1001710G>A | CA2802035 | IDUA | c.621G>A (p.Glu207=) n.677G>A c.480G>A (p.Glu160=) c.581G>A c.414G>A (p.Glu138=) c.438G>A (p.Glu146=) c.225G>A (p.Glu75=) n.521G>A n.709G>A c.333G>A (p.Glu111=) n.690G>A c.-340G>A (n.-340G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1001710G>C | CA355961943 | IDUA | c.621G>C (p.Glu207Asp) n.677G>C c.480G>C (p.Glu160Asp) c.581G>C c.414G>C (p.Glu138Asp) c.438G>C (p.Glu146Asp) c.225G>C (p.Glu75Asp) n.521G>C n.709G>C c.333G>C (p.Glu111Asp) n.690G>C c.-340G>C (n.-340G>C) | |
| 4 | g.1001710G= | CA1433067736 | IDUA | c.621G= (p.Glu207=) n.677G= c.480G= (p.Glu160=) c.581G= c.414G= (p.Glu138=) c.438G= (p.Glu146=) c.225G= (p.Glu75=) n.521G= n.709G= c.333G= (p.Glu111=) n.690G= c.-340G= (n.-340G=) | |
| 4 | g.1001710G>T | CA355961944 | IDUA | c.621G>T (p.Glu207Asp) n.677G>T c.480G>T (p.Glu160Asp) c.581G>T c.414G>T (p.Glu138Asp) c.438G>T (p.Glu146Asp) c.225G>T (p.Glu75Asp) n.521G>T n.709G>T c.333G>T (p.Glu111Asp) n.690G>T c.-340G>T (n.-340G>T) | ClinVar gnomAD v4 |
| 4 | g.1001711_1001718dup | CA2669479391 | IDUA | c.622_629dup (p.Ala211ValfsTer26) n.678_685dup c.481_488dup (p.Ala164ValfsTer26) c.415_422dup (p.Ala142ValfsTer26) c.439_446dup (p.Ala150ValfsTer26) c.226_233dup (p.Ala79ValfsTer26) n.522_529dup n.710_717dup c.334_341dup (p.Ala115ValfsTer26) n.691_698dup c.-339_-332dup (n.-339_-332dup) | gnomAD v4 |
| 4 | g.1001711G>A | CA2802036 | IDUA | c.622G>A (p.Gly208Ser) n.678G>A c.481G>A (p.Gly161Ser) c.582G>A c.415G>A (p.Gly139Ser) c.439G>A (p.Gly147Ser) c.226G>A (p.Gly76Ser) n.522G>A n.710G>A c.334G>A (p.Gly112Ser) n.691G>A c.-339G>A (n.-339G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.1001711G>C | CA355961946 | IDUA | c.622G>C (p.Gly208Arg) n.678G>C c.481G>C (p.Gly161Arg) c.582G>C c.415G>C (p.Gly139Arg) c.439G>C (p.Gly147Arg) c.226G>C (p.Gly76Arg) n.522G>C n.710G>C c.334G>C (p.Gly112Arg) n.691G>C c.-339G>C (n.-339G>C) | |
| 4 | g.1001711G= | CA1433067739 | IDUA | c.622G= (p.Gly208=) n.678G= c.481G= (p.Gly161=) c.582G= c.415G= (p.Gly139=) c.439G= (p.Gly147=) c.226G= (p.Gly76=) n.522G= n.710G= c.334G= (p.Gly112=) n.691G= c.-339G= (n.-339G=) | |
| 4 | g.1001711G>T | CA355961945 | IDUA | c.622G>T (p.Gly208Cys) n.678G>T c.481G>T (p.Gly161Cys) c.582G>T c.415G>T (p.Gly139Cys) c.439G>T (p.Gly147Cys) c.226G>T (p.Gly76Cys) n.522G>T n.710G>T c.334G>T (p.Gly112Cys) n.691G>T c.-339G>T (n.-339G>T) | |
| 4 | g.1001712G>A | CA355961948 | IDUA | c.623G>A (p.Gly208Asp) n.679G>A c.482G>A (p.Gly161Asp) c.583G>A c.416G>A (p.Gly139Asp) c.440G>A (p.Gly147Asp) c.227G>A (p.Gly76Asp) n.523G>A n.711G>A c.335G>A (p.Gly112Asp) n.692G>A c.-338G>A (n.-338G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.1001712G>C | CA355961947 | IDUA | c.623G>C (p.Gly208Ala) n.679G>C c.482G>C (p.Gly161Ala) c.583G>C c.416G>C (p.Gly139Ala) c.440G>C (p.Gly147Ala) c.227G>C (p.Gly76Ala) n.523G>C n.711G>C c.335G>C (p.Gly112Ala) n.692G>C c.-338G>C (n.-338G>C) | ClinVar gnomAD v4 |
| 4 | g.1001712G= | CA1433067742 | IDUA | c.623G= (p.Gly208=) n.679G= c.482G= (p.Gly161=) c.583G= c.416G= (p.Gly139=) c.440G= (p.Gly147=) c.227G= (p.Gly76=) n.523G= n.711G= c.335G= (p.Gly112=) n.692G= c.-338G= (n.-338G=) | |
| 4 | g.1001712G>T | CA355961949 | IDUA | c.623G>T (p.Gly208Val) n.679G>T c.482G>T (p.Gly161Val) c.583G>T c.416G>T (p.Gly139Val) c.440G>T (p.Gly147Val) c.227G>T (p.Gly76Val) n.523G>T n.711G>T c.335G>T (p.Gly112Val) n.692G>T c.-338G>T (n.-338G>T) | gnomAD v4 |
| 4 | g.1001713T>A | CA438057217 | IDUA | c.624T>A (p.Gly208=) n.680T>A c.483T>A (p.Gly161=) c.584T>A c.417T>A (p.Gly139=) c.441T>A (p.Gly147=) c.228T>A (p.Gly76=) n.524T>A n.712T>A c.336T>A (p.Gly112=) n.693T>A c.-337T>A (n.-337T>A) | |
| 4 | g.1001713T>C | CA438057218 | IDUA | c.624T>C (p.Gly208=) n.680T>C c.483T>C (p.Gly161=) c.584T>C c.417T>C (p.Gly139=) c.441T>C (p.Gly147=) c.228T>C (p.Gly76=) n.524T>C n.712T>C c.336T>C (p.Gly112=) n.693T>C c.-337T>C (n.-337T>C) | |
| 4 | g.1001713T>G | CA438057220 | IDUA | c.624T>G (p.Gly208=) n.680T>G c.483T>G (p.Gly161=) c.584T>G c.417T>G (p.Gly139=) c.441T>G (p.Gly147=) c.228T>G (p.Gly76=) n.524T>G n.712T>G c.336T>G (p.Gly112=) n.693T>G c.-337T>G (n.-337T>G) | dbSNP gnomAD v4 |
| 4 | g.1001713_1001717dup | CA2579987794 | IDUA | c.624_628dup (p.Arg210LeufsTer26) n.680_684dup c.483_487dup (p.Arg163LeufsTer26) c.417_421dup (p.Arg141LeufsTer26) c.441_445dup (p.Arg149LeufsTer26) c.228_232dup (p.Arg78LeufsTer26) n.524_528dup n.712_716dup c.336_340dup (p.Arg114LeufsTer26) n.693_697dup c.-337_-333dup (n.-337_-333dup) | |
| 4 | g.1001714C>A | CA355961950 | IDUA | c.625C>A (p.Leu209Met) n.681C>A c.484C>A (p.Leu162Met) c.585C>A c.418C>A (p.Leu140Met) c.442C>A (p.Leu148Met) c.229C>A (p.Leu77Met) n.525C>A n.713C>A c.337C>A (p.Leu113Met) n.694C>A c.-336C>A (n.-336C>A) | |
| 4 | g.1001714C>G | CA355961951 | IDUA | c.625C>G (p.Leu209Val) n.681C>G c.484C>G (p.Leu162Val) c.585C>G c.418C>G (p.Leu140Val) c.442C>G (p.Leu148Val) c.229C>G (p.Leu77Val) n.525C>G n.713C>G c.337C>G (p.Leu113Val) n.694C>G c.-336C>G (n.-336C>G) | |
| 4 | g.1001714C>T | CA438057221 | IDUA | c.625C>T (p.Leu209=) n.681C>T c.484C>T (p.Leu162=) c.585C>T c.418C>T (p.Leu140=) c.442C>T (p.Leu148=) c.229C>T (p.Leu77=) n.525C>T n.713C>T c.337C>T (p.Leu113=) n.694C>T c.-336C>T (n.-336C>T) | ClinVar dbSNP |
| 4 | g.1001715T>A | CA355961952 | IDUA | c.626T>A (p.Leu209Gln) n.682T>A c.485T>A (p.Leu162Gln) c.586T>A c.419T>A (p.Leu140Gln) c.443T>A (p.Leu148Gln) c.230T>A (p.Leu77Gln) n.526T>A n.714T>A c.338T>A (p.Leu113Gln) n.695T>A c.-335T>A (n.-335T>A) | |
| 4 | g.1001715T>C | CA355961953 | IDUA | c.626T>C (p.Leu209Pro) n.682T>C c.485T>C (p.Leu162Pro) c.586T>C c.419T>C (p.Leu140Pro) c.443T>C (p.Leu148Pro) c.230T>C (p.Leu77Pro) n.526T>C n.714T>C c.338T>C (p.Leu113Pro) n.695T>C c.-335T>C (n.-335T>C) | gnomAD v4 |
| 4 | g.1001715T>G | CA355961954 | IDUA | c.626T>G (p.Leu209Arg) n.682T>G c.485T>G (p.Leu162Arg) c.586T>G c.419T>G (p.Leu140Arg) c.443T>G (p.Leu148Arg) c.230T>G (p.Leu77Arg) n.526T>G n.714T>G c.338T>G (p.Leu113Arg) n.695T>G c.-335T>G (n.-335T>G) | |
| 4 | g.1001716G>A | CA438057223 | IDUA | c.627G>A (p.Leu209=) n.683G>A c.486G>A (p.Leu162=) c.420G>A (p.Leu140=) c.444G>A (p.Leu148=) c.231G>A (p.Leu77=) n.527G>A n.715G>A c.339G>A (p.Leu113=) n.696G>A c.-334G>A (n.-334G>A) | ClinVar dbSNP gnomAD v4 |
| 4 | g.1001716G>C | CA438057224 | IDUA | c.627G>C (p.Leu209=) n.683G>C c.486G>C (p.Leu162=) c.420G>C (p.Leu140=) c.444G>C (p.Leu148=) c.231G>C (p.Leu77=) n.527G>C n.715G>C c.339G>C (p.Leu113=) n.696G>C c.-334G>C (n.-334G>C) | |
| 4 | g.1001716G= | CA1433067743 | IDUA | c.627G= (p.Leu209=) n.683G= c.486G= (p.Leu162=) c.420G= (p.Leu140=) c.444G= (p.Leu148=) c.231G= (p.Leu77=) n.527G= n.715G= c.339G= (p.Leu113=) n.696G= c.-334G= (n.-334G=) | |
| 4 | g.1001716G>T | CA438057226 | IDUA | c.627G>T (p.Leu209=) n.683G>T c.486G>T (p.Leu162=) c.420G>T (p.Leu140=) c.444G>T (p.Leu148=) c.231G>T (p.Leu77=) n.527G>T n.715G>T c.339G>T (p.Leu113=) n.696G>T c.-334G>T (n.-334G>T) | gnomAD v4 |
| 4 | g.1001717C>A | CA355961955 | IDUA | c.628C>A (p.Arg210Ser) n.684C>A c.487C>A (p.Arg163Ser) c.421C>A (p.Arg141Ser) c.445C>A (p.Arg149Ser) c.232C>A (p.Arg78Ser) n.528C>A n.716C>A c.340C>A (p.Arg114Ser) n.697C>A c.-333C>A (n.-333C>A) | gnomAD v4 |
| 4 | g.1001717C= | CA1433067747 | IDUA | c.628C= (p.Arg210=) n.684C= c.487C= (p.Arg163=) c.421C= (p.Arg141=) c.445C= (p.Arg149=) c.232C= (p.Arg78=) n.528C= n.716C= c.340C= (p.Arg114=) n.697C= c.-333C= (n.-333C=) | |
| 4 | g.1001717C>G | CA355961956 | IDUA | c.628C>G (p.Arg210Gly) n.684C>G c.487C>G (p.Arg163Gly) c.421C>G (p.Arg141Gly) c.445C>G (p.Arg149Gly) c.232C>G (p.Arg78Gly) n.528C>G n.716C>G c.340C>G (p.Arg114Gly) n.697C>G c.-333C>G (n.-333C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1001717C>T | CA91167728 | IDUA | c.628C>T (p.Arg210Cys) n.684C>T c.487C>T (p.Arg163Cys) c.421C>T (p.Arg141Cys) c.445C>T (p.Arg149Cys) c.232C>T (p.Arg78Cys) n.528C>T n.716C>T c.340C>T (p.Arg114Cys) n.697C>T c.-333C>T (n.-333C>T) | dbSNP gnomAD v4 COSMIC |
| 4 | g.1001717dup | CA1058437602 | IDUA | c.628dup (p.Arg210ProfsTer?) n.684dup c.487dup (p.Arg163ProfsTer?) c.421dup (p.Arg141ProfsTer?) c.445dup (p.Arg149ProfsTer?) c.232dup (p.Arg78ProfsTer?) n.528dup n.716dup c.340dup (p.Arg114ProfsTer?) n.697dup c.-333dup (n.-333dup) | dbSNP |
| 4 | g.1001718G>A | CA2802037 | IDUA | c.629G>A (p.Arg210His) n.685G>A c.488G>A (p.Arg163His) c.422G>A (p.Arg141His) c.446G>A (p.Arg149His) c.233G>A (p.Arg78His) n.529G>A n.717G>A c.341G>A (p.Arg114His) n.698G>A c.-332G>A (n.-332G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1001718G>C | CA355961957 | IDUA | c.629G>C (p.Arg210Pro) n.685G>C c.488G>C (p.Arg163Pro) c.422G>C (p.Arg141Pro) c.446G>C (p.Arg149Pro) c.233G>C (p.Arg78Pro) n.529G>C n.717G>C c.341G>C (p.Arg114Pro) n.698G>C c.-332G>C (n.-332G>C) | |
| 4 | g.1001718G= | CA1433067750 | IDUA | c.629G= (p.Arg210=) n.685G= c.488G= (p.Arg163=) c.422G= (p.Arg141=) c.446G= (p.Arg149=) c.233G= (p.Arg78=) n.529G= n.717G= c.341G= (p.Arg114=) n.698G= c.-332G= (n.-332G=) | |
| 4 | g.1001718G>T | CA355961958 | IDUA | c.629G>T (p.Arg210Leu) n.685G>T c.488G>T (p.Arg163Leu) c.422G>T (p.Arg141Leu) c.446G>T (p.Arg149Leu) c.233G>T (p.Arg78Leu) n.529G>T n.717G>T c.341G>T (p.Arg114Leu) n.698G>T c.-332G>T (n.-332G>T) | |
| 4 | g.1001718_1001719delinsAG | CA2697557037 | IDUA | c.629_630delinsAG (p.Arg210Gln) n.685_686delinsAG c.488_489delinsAG (p.Arg163Gln) c.422_423delinsAG (p.Arg141Gln) c.446_447delinsAG (p.Arg149Gln) c.233_234delinsAG (p.Arg78Gln) n.529_530delinsAG n.717_718delinsAG c.341_342delinsAG (p.Arg114Gln) n.698_699delinsAG c.-332_-331delinsAG (n.-332_-331delinsAG) | ClinVar |