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 |
|---|---|---|---|---|---|
| 13 | g.47949485_47949491delinsTGTAACC | CA2089790522 | SUCLA2 | c.733_739delinsGGTTACA c.1046_1052delinsGGTTACA (p.Arg349=) c.1283_1289delinsGGTTACA (p.Arg428=) c.1220_1226delinsGGTTACA (p.Arg407=) c.*1013_*1019delinsGGTTACA (n.*1013_*1019delinsGGTTACA) n.528_534delinsGGTTACA c.71_77delinsGGTTACA (p.Arg24=) c.983_989delinsGGTTACA (p.Arg328=) c.818_824delinsGGTTACA (p.Arg273=) | |
| 13 | g.47949489_47949494del | CA6977820 | SUCLA2 | c.733_738del c.1046_1051del (p.Arg349_Leu350del) c.1283_1288del (p.Arg428_Leu429del) c.1220_1225del (p.Arg407_Leu408del) c.*1013_*1018del (n.*1013_*1018del) n.528_533del c.71_76del (p.Arg24_Leu25del) c.983_988del (p.Arg328_Leu329del) c.818_823del (p.Arg273_Leu274del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.47949490_47949491dup | CA609854402 | SUCLA2 | c.733_734dup c.1046_1047dup (p.Leu350GlyfsTer13) c.1283_1284dup (p.Leu429GlyfsTer13) c.1220_1221dup (p.Leu408GlyfsTer13) c.*1013_*1014dup (n.*1013_*1014dup) n.528_529dup c.71_72dup (p.Leu25GlyfsTer13) c.983_984dup (p.Leu329GlyfsTer13) c.818_819dup (p.Leu274GlyfsTer13) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.47949491C>A | CA313032 | SUCLA2 | c.733G>T c.1046G>T (p.Arg349Leu) c.1283G>T (p.Arg428Leu) c.1220G>T (p.Arg407Leu) c.*1013G>T (n.*1013G>T) n.528G>T c.71G>T (p.Arg24Leu) c.983G>T (p.Arg328Leu) c.818G>T (p.Arg273Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.47949491C= | CA2089790526 | SUCLA2 | c.733G= c.1046G= (p.Arg349=) c.1283G= (p.Arg428=) c.1220G= (p.Arg407=) c.*1013G= (n.*1013G=) n.528G= c.71G= (p.Arg24=) c.983G= (p.Arg328=) c.818G= (p.Arg273=) | |
| 13 | g.47949491C>G | CA388249611 | SUCLA2 | c.733G>C c.1046G>C (p.Arg349Pro) c.1283G>C (p.Arg428Pro) c.1220G>C (p.Arg407Pro) c.*1013G>C (n.*1013G>C) n.528G>C c.71G>C (p.Arg24Pro) c.983G>C (p.Arg328Pro) c.818G>C (p.Arg273Pro) | |
| 13 | g.47949491C>T | CA388249610 | SUCLA2 | c.733G>A c.1046G>A (p.Arg349Gln) c.1283G>A (p.Arg428Gln) c.1220G>A (p.Arg407Gln) c.*1013G>A (n.*1013G>A) n.528G>A c.71G>A (p.Arg24Gln) c.983G>A (p.Arg328Gln) c.818G>A (p.Arg273Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.47949492G>A | CA388249612 | SUCLA2 | c.732C>T c.1045C>T (p.Arg349Trp) c.1282C>T (p.Arg428Trp) c.1219C>T (p.Arg407Trp) c.*1012C>T (n.*1012C>T) n.527C>T c.70C>T (p.Arg24Trp) c.982C>T (p.Arg328Trp) c.817C>T (p.Arg273Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.47949492G>C | CA388249613 | SUCLA2 | c.732C>G c.1045C>G (p.Arg349Gly) c.1282C>G (p.Arg428Gly) c.1219C>G (p.Arg407Gly) c.*1012C>G (n.*1012C>G) n.527C>G c.70C>G (p.Arg24Gly) c.982C>G (p.Arg328Gly) c.817C>G (p.Arg273Gly) | |
| 13 | g.47949492G= | CA2089790527 | SUCLA2 | c.732C= c.1045C= (p.Arg349=) c.1282C= (p.Arg428=) c.1219C= (p.Arg407=) c.*1012C= (n.*1012C=) n.527C= c.70C= (p.Arg24=) c.982C= (p.Arg328=) c.817C= (p.Arg273=) | |
| 13 | g.47949492G>T | CA483708522 | SUCLA2 | c.732C>A c.1045C>A (p.Arg349=) c.1282C>A (p.Arg428=) c.1219C>A (p.Arg407=) c.*1012C>A (n.*1012C>A) n.527C>A c.70C>A (p.Arg24=) c.982C>A (p.Arg328=) c.817C>A (p.Arg273=) | |
| 13 | g.47949493T>A | CA483708524 | SUCLA2 | c.731A>T c.1044A>T (p.Val348=) c.1281A>T (p.Val427=) c.1218A>T (p.Val406=) c.*1011A>T (n.*1011A>T) n.526A>T c.69A>T (p.Val23=) c.981A>T (p.Val327=) c.816A>T (p.Val272=) | |
| 13 | g.47949493T>C | CA483708525 | SUCLA2 | c.731A>G c.1044A>G (p.Val348=) c.1281A>G (p.Val427=) c.1218A>G (p.Val406=) c.*1011A>G (n.*1011A>G) n.526A>G c.69A>G (p.Val23=) c.981A>G (p.Val327=) c.816A>G (p.Val272=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.47949493T>G | CA483708526 | SUCLA2 | c.731A>C c.1044A>C (p.Val348=) c.1281A>C (p.Val427=) c.1218A>C (p.Val406=) c.*1011A>C (n.*1011A>C) n.526A>C c.69A>C (p.Val23=) c.981A>C (p.Val327=) c.816A>C (p.Val272=) | |
| 13 | g.47949493T= | CA2089790529 | SUCLA2 | c.731A= c.1044A= (p.Val348=) c.1281A= (p.Val427=) c.1218A= (p.Val406=) c.*1011A= (n.*1011A=) n.526A= c.69A= (p.Val23=) c.981A= (p.Val327=) c.816A= (p.Val272=) | |
| 13 | g.47949493_47949496delinsTACC | CA2089790528 | SUCLA2 | c.728_731delinsGGTA c.1041_1044delinsGGTA (p.Val347=) c.1278_1281delinsGGTA (p.Val426=) c.1215_1218delinsGGTA (p.Val405=) c.*1008_*1011delinsGGTA (n.*1008_*1011delinsGGTA) n.523_526delinsGGTA c.66_69delinsGGTA (p.Val22=) c.978_981delinsGGTA (p.Val326=) c.813_816delinsGGTA (p.Val271=) | |
| 13 | g.47949494A>C | CA388249614 | SUCLA2 | c.730T>G c.1043T>G (p.Val348Gly) c.1280T>G (p.Val427Gly) c.1217T>G (p.Val406Gly) c.*1010T>G (n.*1010T>G) n.525T>G c.68T>G (p.Val23Gly) c.980T>G (p.Val327Gly) c.815T>G (p.Val272Gly) | |
| 13 | g.47949494A>G | CA388249615 | SUCLA2 | c.730T>C c.1043T>C (p.Val348Ala) c.1280T>C (p.Val427Ala) c.1217T>C (p.Val406Ala) c.*1010T>C (n.*1010T>C) n.525T>C c.68T>C (p.Val23Ala) c.980T>C (p.Val327Ala) c.815T>C (p.Val272Ala) | |
| 13 | g.47949494A>T | CA388249616 | SUCLA2 | c.730T>A c.1043T>A (p.Val348Glu) c.1280T>A (p.Val427Glu) c.1217T>A (p.Val406Glu) c.*1010T>A (n.*1010T>A) n.525T>A c.68T>A (p.Val23Glu) c.980T>A (p.Val327Glu) c.815T>A (p.Val272Glu) | |
| 13 | g.47949496_47949498del | CA6977821 | SUCLA2 | c.728_730del c.1041_1043del (p.Val348del) c.1278_1280del (p.Val427del) c.1215_1217del (p.Val406del) c.*1008_*1010del (n.*1008_*1010del) n.523_525del c.66_68del (p.Val23del) c.978_980del (p.Val327del) c.813_815del (p.Val272del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.47949495C>A | CA388249617 | SUCLA2 | c.729G>T c.1042G>T (p.Val348Leu) c.1279G>T (p.Val427Leu) c.1216G>T (p.Val406Leu) c.*1009G>T (n.*1009G>T) n.524G>T c.67G>T (p.Val23Leu) c.979G>T (p.Val327Leu) c.814G>T (p.Val272Leu) | |
| 13 | g.47949495C= | CA2089790530 | SUCLA2 | c.729G= c.1042G= (p.Val348=) c.1279G= (p.Val427=) c.1216G= (p.Val406=) c.*1009G= (n.*1009G=) n.524G= c.67G= (p.Val23=) c.979G= (p.Val327=) c.814G= (p.Val272=) | |
| 13 | g.47949495C>G | CA388249619 | SUCLA2 | c.729G>C c.1042G>C (p.Val348Leu) c.1279G>C (p.Val427Leu) c.1216G>C (p.Val406Leu) c.*1009G>C (n.*1009G>C) n.524G>C c.67G>C (p.Val23Leu) c.979G>C (p.Val327Leu) c.814G>C (p.Val272Leu) | |
| 13 | g.47949495C>T | CA388249618 | SUCLA2 | c.729G>A c.1042G>A (p.Val348Ile) c.1279G>A (p.Val427Ile) c.1216G>A (p.Val406Ile) c.*1009G>A (n.*1009G>A) n.524G>A c.67G>A (p.Val23Ile) c.979G>A (p.Val327Ile) c.814G>A (p.Val272Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.47949496C>A | CA483708536 | SUCLA2 | c.728G>T c.1041G>T (p.Val347=) c.1278G>T (p.Val426=) c.1215G>T (p.Val405=) c.*1008G>T (n.*1008G>T) n.523G>T c.66G>T (p.Val22=) c.978G>T (p.Val326=) c.813G>T (p.Val271=) | |
| 13 | g.47949496C>G | CA483708543 | SUCLA2 | c.728G>C c.1041G>C (p.Val347=) c.1278G>C (p.Val426=) c.1215G>C (p.Val405=) c.*1008G>C (n.*1008G>C) n.523G>C c.66G>C (p.Val22=) c.978G>C (p.Val326=) c.813G>C (p.Val271=) | |
| 13 | g.47949496C>T | CA483708546 | SUCLA2 | c.728G>A c.1041G>A (p.Val347=) c.1278G>A (p.Val426=) c.1215G>A (p.Val405=) c.*1008G>A (n.*1008G>A) n.523G>A c.66G>A (p.Val22=) c.978G>A (p.Val326=) c.813G>A (p.Val271=) | |
| 13 | g.47949497A>C | CA388249620 | SUCLA2 | c.727T>G c.1040T>G (p.Val347Gly) c.1277T>G (p.Val426Gly) c.1214T>G (p.Val405Gly) c.*1007T>G (n.*1007T>G) n.522T>G c.65T>G (p.Val22Gly) c.977T>G (p.Val326Gly) c.812T>G (p.Val271Gly) | gnomAD v4 |
| 13 | g.47949497A>G | CA388249621 | SUCLA2 | c.727T>C c.1040T>C (p.Val347Ala) c.1277T>C (p.Val426Ala) c.1214T>C (p.Val405Ala) c.*1007T>C (n.*1007T>C) n.522T>C c.65T>C (p.Val22Ala) c.977T>C (p.Val326Ala) c.812T>C (p.Val271Ala) | gnomAD v4 |
| 13 | g.47949497A>T | CA388249622 | SUCLA2 | c.727T>A c.1040T>A (p.Val347Glu) c.1277T>A (p.Val426Glu) c.1214T>A (p.Val405Glu) c.*1007T>A (n.*1007T>A) n.522T>A c.65T>A (p.Val22Glu) c.977T>A (p.Val326Glu) c.812T>A (p.Val271Glu) | |
| 13 | g.47949498C>A | CA388249623 | SUCLA2 | c.726G>T c.1039G>T (p.Val347Leu) c.1276G>T (p.Val426Leu) c.1213G>T (p.Val405Leu) c.*1006G>T (n.*1006G>T) n.521G>T c.64G>T (p.Val22Leu) c.976G>T (p.Val326Leu) c.811G>T (p.Val271Leu) | |
| 13 | g.47949498C>G | CA388249624 | SUCLA2 | c.726G>C c.1039G>C (p.Val347Leu) c.1276G>C (p.Val426Leu) c.1213G>C (p.Val405Leu) c.*1006G>C (n.*1006G>C) n.521G>C c.64G>C (p.Val22Leu) c.976G>C (p.Val326Leu) c.811G>C (p.Val271Leu) | |
| 13 | g.47949498C>T | CA388249625 | SUCLA2 | c.726G>A c.1039G>A (p.Val347Met) c.1276G>A (p.Val426Met) c.1213G>A (p.Val405Met) c.*1006G>A (n.*1006G>A) n.521G>A c.64G>A (p.Val22Met) c.976G>A (p.Val326Met) c.811G>A (p.Val271Met) | |
| 13 | g.47949499A>C | CA483708560 | SUCLA2 | c.725T>G c.1038T>G (p.Val346=) c.1275T>G (p.Val425=) c.1212T>G (p.Val404=) c.*1005T>G (n.*1005T>G) n.520T>G c.63T>G (p.Val21=) c.975T>G (p.Val325=) c.810T>G (p.Val270=) | |
| 13 | g.47949499A>G | CA483708563 | SUCLA2 | c.725T>C c.1038T>C (p.Val346=) c.1275T>C (p.Val425=) c.1212T>C (p.Val404=) c.*1005T>C (n.*1005T>C) n.520T>C c.63T>C (p.Val21=) c.975T>C (p.Val325=) c.810T>C (p.Val270=) | |
| 13 | g.47949499A>T | CA483708558 | SUCLA2 | c.725T>A c.1038T>A (p.Val346=) c.1275T>A (p.Val425=) c.1212T>A (p.Val404=) c.*1005T>A (n.*1005T>A) n.520T>A c.63T>A (p.Val21=) c.975T>A (p.Val325=) c.810T>A (p.Val270=) | |
| 13 | g.47949500A>C | CA388249626 | SUCLA2 | c.724T>G c.1037T>G (p.Val346Gly) c.1274T>G (p.Val425Gly) c.1211T>G (p.Val404Gly) c.*1004T>G (n.*1004T>G) n.519T>G c.62T>G (p.Val21Gly) c.974T>G (p.Val325Gly) c.809T>G (p.Val270Gly) | |
| 13 | g.47949500A>G | CA388249627 | SUCLA2 | c.724T>C c.1037T>C (p.Val346Ala) c.1274T>C (p.Val425Ala) c.1211T>C (p.Val404Ala) c.*1004T>C (n.*1004T>C) n.519T>C c.62T>C (p.Val21Ala) c.974T>C (p.Val325Ala) c.809T>C (p.Val270Ala) | |
| 13 | g.47949500A>T | CA388249628 | SUCLA2 | c.724T>A c.1037T>A (p.Val346Asp) c.1274T>A (p.Val425Asp) c.1211T>A (p.Val404Asp) c.*1004T>A (n.*1004T>A) n.519T>A c.62T>A (p.Val21Asp) c.974T>A (p.Val325Asp) c.809T>A (p.Val270Asp) | |
| 13 | g.47949501C>A | CA388249629 | SUCLA2 | c.723G>T c.1036G>T (p.Val346Phe) c.1273G>T (p.Val425Phe) c.1210G>T (p.Val404Phe) c.*1003G>T (n.*1003G>T) n.518G>T c.61G>T (p.Val21Phe) c.973G>T (p.Val325Phe) c.808G>T (p.Val270Phe) | |
| 13 | g.47949501C= | CA2089790531 | SUCLA2 | c.723G= c.1036G= (p.Val346=) c.1273G= (p.Val425=) c.1210G= (p.Val404=) c.*1003G= (n.*1003G=) n.518G= c.61G= (p.Val21=) c.973G= (p.Val325=) c.808G= (p.Val270=) | |
| 13 | g.47949501C>G | CA388249630 | SUCLA2 | c.723G>C c.1036G>C (p.Val346Leu) c.1273G>C (p.Val425Leu) c.1210G>C (p.Val404Leu) c.*1003G>C (n.*1003G>C) n.518G>C c.61G>C (p.Val21Leu) c.973G>C (p.Val325Leu) c.808G>C (p.Val270Leu) | |
| 13 | g.47949501C>T | CA6977822 | SUCLA2 | c.723G>A c.1036G>A (p.Val346Ile) c.1273G>A (p.Val425Ile) c.1210G>A (p.Val404Ile) c.*1003G>A (n.*1003G>A) n.518G>A c.61G>A (p.Val21Ile) c.973G>A (p.Val325Ile) c.808G>A (p.Val270Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.47949502A>C | CA483708577 | SUCLA2 | c.722T>G c.1035T>G (p.Pro345=) c.1272T>G (p.Pro424=) c.1209T>G (p.Pro403=) c.*1002T>G (n.*1002T>G) n.517T>G c.60T>G (p.Pro20=) c.972T>G (p.Pro324=) c.807T>G (p.Pro269=) | |
| 13 | g.47949502A>G | CA483708575 | SUCLA2 | c.722T>C c.1035T>C (p.Pro345=) c.1272T>C (p.Pro424=) c.1209T>C (p.Pro403=) c.*1002T>C (n.*1002T>C) n.517T>C c.60T>C (p.Pro20=) c.972T>C (p.Pro324=) c.807T>C (p.Pro269=) | |
| 13 | g.47949502A>T | CA483708576 | SUCLA2 | c.722T>A c.1035T>A (p.Pro345=) c.1272T>A (p.Pro424=) c.1209T>A (p.Pro403=) c.*1002T>A (n.*1002T>A) n.517T>A c.60T>A (p.Pro20=) c.972T>A (p.Pro324=) c.807T>A (p.Pro269=) | ClinVar |
| 13 | g.47949503G>A | CA388249632 | SUCLA2 | c.721C>T c.1034C>T (p.Pro345Leu) c.1271C>T (p.Pro424Leu) c.1208C>T (p.Pro403Leu) c.*1001C>T (n.*1001C>T) n.516C>T c.59C>T (p.Pro20Leu) c.971C>T (p.Pro324Leu) c.806C>T (p.Pro269Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.47949503G>C | CA388249633 | SUCLA2 | c.721C>G c.1034C>G (p.Pro345Arg) c.1271C>G (p.Pro424Arg) c.1208C>G (p.Pro403Arg) c.*1001C>G (n.*1001C>G) n.516C>G c.59C>G (p.Pro20Arg) c.971C>G (p.Pro324Arg) c.806C>G (p.Pro269Arg) | |
| 13 | g.47949503G= | CA2089790532 | SUCLA2 | c.721C= c.1034C= (p.Pro345=) c.1271C= (p.Pro424=) c.1208C= (p.Pro403=) c.*1001C= (n.*1001C=) n.516C= c.59C= (p.Pro20=) c.971C= (p.Pro324=) c.806C= (p.Pro269=) | |
| 13 | g.47949503G>T | CA388249631 | SUCLA2 | c.721C>A c.1034C>A (p.Pro345His) c.1271C>A (p.Pro424His) c.1208C>A (p.Pro403His) c.*1001C>A (n.*1001C>A) n.516C>A c.59C>A (p.Pro20His) c.971C>A (p.Pro324His) c.806C>A (p.Pro269His) |