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 |
|---|---|---|---|---|---|
| 5 | g.80873117_80873118delinsTA | CA2573139916 | MSH3 | c.3132_3133delinsTA (p.Ala1045Thr) c.2964_2965delinsTA (p.Ala989Thr) c.540_541delinsTA c.2937_2938delinsTA (p.Ala980Thr) c.*456_*457delinsTA (n.*456_*457delinsTA) | ClinVar dbSNP |
| 5 | g.80873118G>A | CA3328468 | MSH3 | c.3133G>A (p.Ala1045Thr) c.2965G>A (p.Ala989Thr) c.541G>A c.2938G>A (p.Ala980Thr) c.*457G>A (n.*457G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.80873118G>C | CA360346786 | MSH3 | c.3133G>C (p.Ala1045Pro) c.2965G>C (p.Ala989Pro) c.541G>C c.2938G>C (p.Ala980Pro) c.*457G>C (n.*457G>C) | |
| 5 | g.80873118G= | CA1558564174 | MSH3 | c.3133G= (p.Ala1045=) c.2965G= (p.Ala989=) c.541G= c.2938G= (p.Ala980=) c.*457G= (n.*457G=) | |
| 5 | g.80873118G>T | CA360346787 | MSH3 | c.3133G>T (p.Ala1045Ser) c.2965G>T (p.Ala989Ser) c.541G>T c.2938G>T (p.Ala980Ser) c.*457G>T (n.*457G>T) | ClinVar gnomAD v4 |
| 5 | g.80873118_80873122delinsACA | CA2695198693 | MSH3 | c.3133_3137delinsACA (p.Ala1045ThrfsTer6) c.2965_2969delinsACA (p.Ala989ThrfsTer6) c.541_545delinsACA c.2938_2942delinsACA (p.Ala980ThrfsTer6) c.*457_*461delinsACA (n.*457_*461delinsACA) | ClinVar |
| 5 | g.80873119C>A | CA360346788 | MSH3 | c.3134C>A (p.Ala1045Glu) c.2966C>A (p.Ala989Glu) c.542C>A c.2939C>A (p.Ala980Glu) c.*458C>A (n.*458C>A) | |
| 5 | g.80873119C>G | CA360346789 | MSH3 | c.3134C>G (p.Ala1045Gly) c.2966C>G (p.Ala989Gly) c.542C>G c.2939C>G (p.Ala980Gly) c.*458C>G (n.*458C>G) | |
| 5 | g.80873119C>T | CA360346790 | MSH3 | c.3134C>T (p.Ala1045Val) c.2966C>T (p.Ala989Val) c.542C>T c.2939C>T (p.Ala980Val) c.*458C>T (n.*458C>T) | gnomAD v4 |
| 5 | g.80873120A>C | CA445225418 | MSH3 | c.3135A>C (p.Ala1045=) c.2967A>C (p.Ala989=) c.543A>C c.2940A>C (p.Ala980=) c.*459A>C (n.*459A>C) | ClinVar gnomAD v4 |
| 5 | g.80873120A>G | CA445225419 | MSH3 | c.3135A>G (p.Ala1045=) c.2967A>G (p.Ala989=) c.543A>G c.2940A>G (p.Ala980=) c.*459A>G (n.*459A>G) | ClinVar dbSNP |
| 5 | g.80873120A>T | CA445225417 | MSH3 | c.3135A>T (p.Ala1045=) c.2967A>T (p.Ala989=) c.543A>T c.2940A>T (p.Ala980=) c.*459A>T (n.*459A>T) | |
| 5 | g.80873121G>A | CA3328469 | MSH3 | c.3136G>A (p.Ala1046Thr) c.2968G>A (p.Ala990Thr) c.544G>A c.2941G>A (p.Ala981Thr) c.*460G>A (n.*460G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.80873121G>C | CA360346791 | MSH3 | c.3136G>C (p.Ala1046Pro) c.2968G>C (p.Ala990Pro) c.544G>C c.2941G>C (p.Ala981Pro) c.*460G>C (n.*460G>C) | |
| 5 | g.80873121G= | CA1558564192 | MSH3 | c.3136G= (p.Ala1046=) c.2968G= (p.Ala990=) c.544G= c.2941G= (p.Ala981=) c.*460G= (n.*460G=) | |
| 5 | g.80873121G>T | CA360346792 | MSH3 | c.3136G>T (p.Ala1046Ser) c.2968G>T (p.Ala990Ser) c.544G>T c.2941G>T (p.Ala981Ser) c.*460G>T (n.*460G>T) | |
| 5 | g.80873121_80873122del | CA2674445920 | MSH3 | c.3136_3137del (p.Ala1046ArgfsTer5) c.2968_2969del (p.Ala990ArgfsTer5) c.544_545del c.2941_2942del (p.Ala981ArgfsTer5) c.*460_*461del (n.*460_*461del) | gnomAD v4 |
| 5 | g.80873122C>A | CA360346793 | MSH3 | c.3137C>A (p.Ala1046Glu) c.2969C>A (p.Ala990Glu) c.545C>A c.2942C>A (p.Ala981Glu) c.*461C>A (n.*461C>A) | |
| 5 | g.80873122C= | CA1558564200 | MSH3 | c.3137C= (p.Ala1046=) c.2969C= (p.Ala990=) c.545C= c.2942C= (p.Ala981=) c.*461C= (n.*461C=) | |
| 5 | g.80873122C>G | CA360346794 | MSH3 | c.3137C>G (p.Ala1046Gly) c.2969C>G (p.Ala990Gly) c.545C>G c.2942C>G (p.Ala981Gly) c.*461C>G (n.*461C>G) | |
| 5 | g.80873122C>T | CA360346795 | MSH3 | c.3137C>T (p.Ala1046Val) c.2969C>T (p.Ala990Val) c.545C>T c.2942C>T (p.Ala981Val) c.*461C>T (n.*461C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.80873123A>C | CA445225423 | MSH3 | c.3138A>C (p.Ala1046=) c.2970A>C (p.Ala990=) c.546A>C c.2943A>C (p.Ala981=) c.*462A>C (n.*462A>C) | |
| 5 | g.80873123A>G | CA445225424 | MSH3 | c.3138A>G (p.Ala1046=) c.2970A>G (p.Ala990=) c.546A>G c.2943A>G (p.Ala981=) c.*462A>G (n.*462A>G) | ClinVar dbSNP |
| 5 | g.80873123A>T | CA445225425 | MSH3 | c.3138A>T (p.Ala1046=) c.2970A>T (p.Ala990=) c.546A>T c.2943A>T (p.Ala981=) c.*462A>T (n.*462A>T) | |
| 5 | g.80873124G>A | CA360346796 | MSH3 | c.3139G>A (p.Glu1047Lys) c.2971G>A (p.Glu991Lys) c.547G>A c.2944G>A (p.Glu982Lys) c.*463G>A (n.*463G>A) | dbSNP gnomAD v4 |
| 5 | g.80873124G>C | CA360346798 | MSH3 | c.3139G>C (p.Glu1047Gln) c.2971G>C (p.Glu991Gln) c.547G>C c.2944G>C (p.Glu982Gln) c.*463G>C (n.*463G>C) | |
| 5 | g.80873124G>T | CA360346797 | MSH3 | c.3139G>T (p.Glu1047Ter) c.2971G>T (p.Glu991Ter) c.547G>T c.2944G>T (p.Glu982Ter) c.*463G>T (n.*463G>T) | |
| 5 | g.80873125A>C | CA360346799 | MSH3 | c.3140A>C (p.Glu1047Ala) c.2972A>C (p.Glu991Ala) c.548A>C c.2945A>C (p.Glu982Ala) c.*464A>C (n.*464A>C) | |
| 5 | g.80873125A>G | CA360346800 | MSH3 | c.3140A>G (p.Glu1047Gly) c.2972A>G (p.Glu991Gly) c.548A>G c.2945A>G (p.Glu982Gly) c.*464A>G (n.*464A>G) | |
| 5 | g.80873125A>T | CA360346801 | MSH3 | c.3140A>T (p.Glu1047Val) c.2972A>T (p.Glu991Val) c.548A>T c.2945A>T (p.Glu982Val) c.*464A>T (n.*464A>T) | |
| 5 | g.80873126A= | CA1558564209 | MSH3 | c.3141A= (p.Glu1047=) c.2973A= (p.Glu991=) c.549A= c.2946A= (p.Glu982=) c.*465A= (n.*465A=) | |
| 5 | g.80873126A>C | CA360346802 | MSH3 | c.3141A>C (p.Glu1047Asp) c.2973A>C (p.Glu991Asp) c.549A>C c.2946A>C (p.Glu982Asp) c.*465A>C (n.*465A>C) | |
| 5 | g.80873126A>G | CA445225430 | MSH3 | c.3141A>G (p.Glu1047=) c.2973A>G (p.Glu991=) c.549A>G c.2946A>G (p.Glu982=) c.*465A>G (n.*465A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.80873126A>T | CA360346803 | MSH3 | c.3141A>T (p.Glu1047Asp) c.2973A>T (p.Glu991Asp) c.549A>T c.2946A>T (p.Glu982Asp) c.*465A>T (n.*465A>T) | |
| 5 | g.80873126_80873127delinsAC | CA1558564213 | MSH3 | c.3141_3142delinsAC (p.Glu1047=) c.2973_2974delinsAC (p.Glu991=) c.549_550delinsAC c.2946_2947delinsAC (p.Glu982=) c.*465_*466delinsAC (n.*465_*466delinsAC) | |
| 5 | g.80873127del | CA1558564217 | MSH3 | c.3142del (p.Gln1048LysfsTer12) c.2974del (p.Gln992LysfsTer12) c.550del c.2947del (p.Gln983LysfsTer12) c.*466del (n.*466del) | dbSNP |
| 5 | g.80873127C>A | CA360346804 | MSH3 | c.3142C>A (p.Gln1048Lys) c.2974C>A (p.Gln992Lys) c.550C>A c.2947C>A (p.Gln983Lys) c.*466C>A (n.*466C>A) | |
| 5 | g.80873127C>G | CA360346805 | MSH3 | c.3142C>G (p.Gln1048Glu) c.2974C>G (p.Gln992Glu) c.550C>G c.2947C>G (p.Gln983Glu) c.*466C>G (n.*466C>G) | |
| 5 | g.80873127C>T | CA360346806 | MSH3 | c.3142C>T (p.Gln1048Ter) c.2974C>T (p.Gln992Ter) c.550C>T c.2947C>T (p.Gln983Ter) c.*466C>T (n.*466C>T) | ClinVar dbSNP |
| 5 | g.80873128A>C | CA360346807 | MSH3 | c.3143A>C (p.Gln1048Pro) c.2975A>C (p.Gln992Pro) c.551A>C c.2948A>C (p.Gln983Pro) c.*467A>C (n.*467A>C) | |
| 5 | g.80873128A>G | CA360346808 | MSH3 | c.3143A>G (p.Gln1048Arg) c.2975A>G (p.Gln992Arg) c.551A>G c.2948A>G (p.Gln983Arg) c.*467A>G (n.*467A>G) | COSMIC COSMIC |
| 5 | g.80873128A>T | CA360346809 | MSH3 | c.3143A>T (p.Gln1048Leu) c.2975A>T (p.Gln992Leu) c.551A>T c.2948A>T (p.Gln983Leu) c.*467A>T (n.*467A>T) | |
| 5 | g.80873129A>C | CA360346811 | MSH3 | c.3144A>C (p.Gln1048His) c.2976A>C (p.Gln992His) c.552A>C c.2949A>C (p.Gln983His) c.*468A>C (n.*468A>C) | |
| 5 | g.80873129A>G | CA445225434 | MSH3 | c.3144A>G (p.Gln1048=) c.2976A>G (p.Gln992=) c.552A>G c.2949A>G (p.Gln983=) c.*468A>G (n.*468A>G) | gnomAD v4 |
| 5 | g.80873129A>T | CA360346810 | MSH3 | c.3144A>T (p.Gln1048His) c.2976A>T (p.Gln992His) c.552A>T c.2949A>T (p.Gln983His) c.*468A>T (n.*468A>T) | |
| 5 | g.80873130G>A | CA360346812 | MSH3 | c.3145G>A (p.Val1049Ile) c.2977G>A (p.Val993Ile) c.553G>A c.2950G>A (p.Val984Ile) c.*469G>A (n.*469G>A) | |
| 5 | g.80873130G>C | CA360346813 | MSH3 | c.3145G>C (p.Val1049Leu) c.2977G>C (p.Val993Leu) c.553G>C c.2950G>C (p.Val984Leu) c.*469G>C (n.*469G>C) | |
| 5 | g.80873130G>T | CA360346814 | MSH3 | c.3145G>T (p.Val1049Phe) c.2977G>T (p.Val993Phe) c.553G>T c.2950G>T (p.Val984Phe) c.*469G>T (n.*469G>T) | |
| 5 | g.80873131T>A | CA360346815 | MSH3 | c.3146T>A (p.Val1049Asp) c.2978T>A (p.Val993Asp) c.554T>A c.2951T>A (p.Val984Asp) c.*470T>A (n.*470T>A) | ClinVar |
| 5 | g.80873131T>C | CA360346816 | MSH3 | c.3146T>C (p.Val1049Ala) c.2978T>C (p.Val993Ala) c.554T>C c.2951T>C (p.Val984Ala) c.*470T>C (n.*470T>C) | ClinVar dbSNP |