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.54285920_54285926delinsCCAGAGA | CA1458536950 | PDGFRA | c.2519_2525delinsCCAGAGA (p.Ala840=) c.1799_1805delinsCCAGAGA (p.Ala600=) c.2594_2600delinsCCAGAGA (p.Ala865=) c.2558_2564delinsCCAGAGA (p.Ala853=) | |
| 4 | g.54285923_54285928del | CA16602702 | PDGFRA | c.2522_2527del (p.Arg841_Asp842del) c.1802_1807del (p.Arg601_Asp602del) c.2597_2602del (p.Arg866_Asp867del) c.2561_2566del (p.Arg854_Asp855del) | ClinVar dbSNP COSMIC |
| 4 | g.54285923_54285928delinsACC | CA891841821 | PDGFRA | c.2522_2527delinsACC (p.Arg841_Ile843delinsAsnLeu) c.1802_1807delinsACC (p.Arg601_Ile603delinsAsnLeu) c.2597_2602delinsACC (p.Arg866_Ile868delinsAsnLeu) c.2561_2566delinsACC (p.Arg854_Ile856delinsAsnLeu) | |
| 4 | g.54285924_54285932del | CA645526427 | PDGFRA | c.2523_2531del (p.Asp842_Met844del) c.1803_1811del (p.Asp602_Met604del) c.2598_2606del (p.Asp867_Met869del) c.2562_2570del (p.Asp855_Met857del) | dbSNP COSMIC |
| 4 | g.54285924_54285933delinsAGACATCATG | CA1458536968 | PDGFRA | c.2523_2532delinsAGACATCATG (p.Arg841=) c.1803_1812delinsAGACATCATG (p.Arg601=) c.2598_2607delinsAGACATCATG (p.Arg866=) c.2562_2571delinsAGACATCATG (p.Arg854=) | |
| 4 | g.54285924_54285936delinsAGACATCATGCAT | CA1458536972 | PDGFRA | c.2523_2535delinsAGACATCATGCAT (p.Arg841=) c.1803_1815delinsAGACATCATGCAT (p.Arg601=) c.2598_2610delinsAGACATCATGCAT (p.Arg866=) c.2562_2574delinsAGACATCATGCAT (p.Arg854=) | |
| 4 | g.54285924_54285937delinsAGACATCATGCATG | CA1458536967 | PDGFRA | c.2523_2536delinsAGACATCATGCATG (p.Arg841=) c.1803_1816delinsAGACATCATGCATG (p.Arg601=) c.2598_2611delinsAGACATCATGCATG (p.Arg866=) c.2562_2575delinsAGACATCATGCATG (p.Arg854=) | |
| 4 | g.54285925_54285926delinsAT | CA16602522 | PDGFRA | c.2524_2525delinsAT (p.Asp842Ile) c.1804_1805delinsAT (p.Asp602Ile) c.2599_2600delinsAT (p.Asp867Ile) c.2563_2564delinsAT (p.Asp855Ile) | ClinVar dbSNP COSMIC |
| 4 | g.54285925_54285926delinsGA | CA1458536999 | PDGFRA | c.2524_2525delinsGA (p.Asp842=) c.1804_1805delinsGA (p.Asp602=) c.2599_2600delinsGA (p.Asp867=) c.2563_2564delinsGA (p.Asp855=) | |
| 4 | g.54285925_54285926delinsTT | CA645526432 | PDGFRA | c.2524_2525delinsTT (p.Asp842Phe) c.1804_1805delinsTT (p.Asp602Phe) c.2599_2600delinsTT (p.Asp867Phe) c.2563_2564delinsTT (p.Asp855Phe) | dbSNP COSMIC |
| 4 | g.54285925_54285927del | CA645526428 | PDGFRA | c.2524_2526del (p.Asp842del) c.1804_1806del (p.Asp602del) c.2599_2601del (p.Asp867del) c.2563_2565del (p.Asp855del) | dbSNP COSMIC |
| 4 | g.54285925_54285927delinsTAT | CA645526429 | PDGFRA | c.2524_2526delinsTAT (p.Asp842Tyr) c.1804_1806delinsTAT (p.Asp602Tyr) c.2599_2601delinsTAT (p.Asp867Tyr) c.2563_2565delinsTAT (p.Asp855Tyr) | dbSNP COSMIC |
| 4 | g.54285925_54285933del | CA16602704 | PDGFRA | c.2524_2532del (p.Asp842_Met844del) c.1804_1812del (p.Asp602_Met604del) c.2599_2607del (p.Asp867_Met869del) c.2563_2571del (p.Asp855_Met857del) | ClinVar dbSNP COSMIC |
| 4 | g.54285925_54285934delinsT | CA645526430 | PDGFRA | c.2524_2533delinsT (p.Asp842_His845delinsTyr) c.1804_1813delinsT (p.Asp602_His605delinsTyr) c.2599_2608delinsT (p.Asp867_His870delinsTyr) c.2563_2572delinsT (p.Asp855_His858delinsTyr) | dbSNP COSMIC |
| 4 | g.54285925_54285935delinsGACATCATGCA | CA1458537006 | PDGFRA | c.2524_2534delinsGACATCATGCA (p.Asp842=) c.1804_1814delinsGACATCATGCA (p.Asp602=) c.2599_2609delinsGACATCATGCA (p.Asp867=) c.2563_2573delinsGACATCATGCA (p.Asp855=) | |
| 4 | g.54285925_54285937delinsA | CA96866763 | PDGFRA | c.2524_2536delinsA (p.Asp842_Asp846delinsAsn) c.1804_1816delinsA (p.Asp602_Asp606delinsAsn) c.2599_2611delinsA (p.Asp867_Asp871delinsAsn) c.2563_2575delinsA (p.Asp855_Asp859delinsAsn) | dbSNP COSMIC |
| 4 | g.54285925_54285938delinsAG | CA645526431 | PDGFRA | c.2524_2537delinsAG (p.Asp842_Asp846delinsSer) c.1804_1817delinsAG (p.Asp602_Asp606delinsSer) c.2599_2612delinsAG (p.Asp867_Asp871delinsSer) c.2563_2576delinsAG (p.Asp855_Asp859delinsSer) | dbSNP COSMIC |
| 4 | g.54285927_54285938del | CA123197 | PDGFRA | c.2526_2537del (p.Ile843_Asp846del) c.1806_1817del (p.Ile603_Asp606del) c.2601_2612del (p.Ile868_Asp871del) c.2565_2576del (p.Ile856_Asp859del) | ClinVar dbSNP COSMIC COSMIC |
| 4 | g.54285925_54285939delinsGACATCATGCATGAT | CA1458536994 | PDGFRA | c.2524_2538delinsGACATCATGCATGAT (p.Asp842=) c.1804_1818delinsGACATCATGCATGAT (p.Asp602=) c.2599_2613delinsGACATCATGCATGAT (p.Asp867=) c.2563_2577delinsGACATCATGCATGAT (p.Asp855=) | |
| 4 | g.54285926A= | CA1458537013 | PDGFRA | c.2525A= (p.Asp842=) c.1805A= (p.Asp602=) c.2600A= (p.Asp867=) c.2564A= (p.Asp855=) | |
| 4 | g.54285926A>C | CA356895030 | PDGFRA | c.2525A>C (p.Asp842Ala) c.1805A>C (p.Asp602Ala) c.2600A>C (p.Asp867Ala) c.2564A>C (p.Asp855Ala) | dbSNP |
| 4 | g.54285926A>G | CA356895031 | PDGFRA | c.2525A>G (p.Asp842Gly) c.1805A>G (p.Asp602Gly) c.2600A>G (p.Asp867Gly) c.2564A>G (p.Asp855Gly) | dbSNP |
| 4 | g.54285926A>T | CA123194 | PDGFRA | c.2525A>T (p.Asp842Val) c.1805A>T (p.Asp602Val) c.2600A>T (p.Asp867Val) c.2564A>T (p.Asp855Val) | ClinVar dbSNP COSMIC |
| 4 | g.54285926_54285928del | CA645526433 | PDGFRA | c.2525_2527del (p.Asp842_Ile843delinsVal) c.1805_1807del (p.Asp602_Ile603delinsVal) c.2600_2602del (p.Asp867_Ile868delinsVal) c.2564_2566del (p.Asp855_Ile856delinsVal) | dbSNP COSMIC |
| 4 | g.54285926_54285930delinsTCATG | CA658820703 | PDGFRA | c.2525_2529delinsTCATG (p.Asp842_Ile843delinsValMet) c.1805_1809delinsTCATG (p.Asp602_Ile603delinsValMet) c.2600_2604delinsTCATG (p.Asp867_Ile868delinsValMet) c.2564_2568delinsTCATG (p.Asp855_Ile856delinsValMet) | |
| 4 | g.54285926_54285935delinsT | CA96866769 | PDGFRA | c.2525_2534delinsT (p.Asp842_His845delinsVal) c.1805_1814delinsT (p.Asp602_His605delinsVal) c.2600_2609delinsT (p.Asp867_His870delinsVal) c.2564_2573delinsT (p.Asp855_His858delinsVal) | dbSNP COSMIC |
| 4 | g.54285926_54285939delinsGA | CA96866767 | PDGFRA | c.2525_2538delinsGA (p.Asp842_Asp846delinsGly) c.1805_1818delinsGA (p.Asp602_Asp606delinsGly) c.2600_2613delinsGA (p.Asp867_Asp871delinsGly) c.2564_2577delinsGA (p.Asp855_Asp859delinsGly) | dbSNP COSMIC |
| 4 | g.54285926_54285939delinsACATCATGCATGAT | CA1458537015 | PDGFRA | c.2525_2538delinsACATCATGCATGAT (p.Asp842=) c.1805_1818delinsACATCATGCATGAT (p.Asp602=) c.2600_2613delinsACATCATGCATGAT (p.Asp867=) c.2564_2577delinsACATCATGCATGAT (p.Asp855=) | |
| 4 | g.54285926_54285942delinsACATCATGCATGATTCG | CA1458537017 | PDGFRA | c.2525_2541delinsACATCATGCATGATTCG (p.Asp842=) c.1805_1821delinsACATCATGCATGATTCG (p.Asp602=) c.2600_2616delinsACATCATGCATGATTCG (p.Asp867=) c.2564_2580delinsACATCATGCATGATTCG (p.Asp855=) | |
| 4 | g.54285927C>A | CA356895032 | PDGFRA | c.2526C>A (p.Asp842Glu) c.1806C>A (p.Asp602Glu) c.2601C>A (p.Asp867Glu) c.2565C>A (p.Asp855Glu) | dbSNP |
| 4 | g.54285927C= | CA1458537023 | PDGFRA | c.2526C= (p.Asp842=) c.1806C= (p.Asp602=) c.2601C= (p.Asp867=) c.2565C= (p.Asp855=) | |
| 4 | g.54285927C>G | CA356895033 | PDGFRA | c.2526C>G (p.Asp842Glu) c.1806C>G (p.Asp602Glu) c.2601C>G (p.Asp867Glu) c.2565C>G (p.Asp855Glu) | dbSNP |
| 4 | g.54285927C>T | CA439287846 | PDGFRA | c.2526C>T (p.Asp842=) c.1806C>T (p.Asp602=) c.2601C>T (p.Asp867=) c.2565C>T (p.Asp855=) | dbSNP |
| 4 | g.54285930_54285932del | CA645526434 | PDGFRA | c.2529_2531del (p.Ile843del) c.1809_1811del (p.Ile603del) c.2604_2606del (p.Ile868del) c.2568_2570del (p.Ile856del) | dbSNP COSMIC |
| 4 | g.54285927_54285938delinsGACATCATGCAT | CA96866778 | PDGFRA | c.2526_2537delinsGACATCATGCAT (p.Asp842_Asp846delinsGluThrSerCysIle) c.1806_1817delinsGACATCATGCAT (p.Asp602_Asp606delinsGluThrSerCysIle) c.2601_2612delinsGACATCATGCAT (p.Asp867_Asp871delinsGluThrSerCysIle) c.2565_2576delinsGACATCATGCAT (p.Asp855_Asp859delinsGluThrSerCysIle) | |
| 4 | g.54285927_54285939delinsG | CA96866772 | PDGFRA | c.2526_2538delinsG (p.Asp842_Asp846delinsGlu) c.1806_1818delinsG (p.Asp602_Asp606delinsGlu) c.2601_2613delinsG (p.Asp867_Asp871delinsGlu) c.2565_2577delinsG (p.Asp855_Asp859delinsGlu) | dbSNP COSMIC |
| 4 | g.54285927_54285939delinsCATCATGCATGAT | CA1458537024 | PDGFRA | c.2526_2538delinsCATCATGCATGAT (p.Asp842=) c.1806_1818delinsCATCATGCATGAT (p.Asp602=) c.2601_2613delinsCATCATGCATGAT (p.Asp867=) c.2565_2577delinsCATCATGCATGAT (p.Asp855=) | |
| 4 | g.54285927_54285942delinsGGCC | CA96866787 | PDGFRA | c.2526_2541delinsGGCC (p.Asp842_Ser847delinsGluAla) c.1806_1821delinsGGCC (p.Asp602_Ser607delinsGluAla) c.2601_2616delinsGGCC (p.Asp867_Ser872delinsGluAla) c.2565_2580delinsGGCC (p.Asp855_Ser860delinsGluAla) | dbSNP COSMIC |
| 4 | g.54285928A>C | CA356895036 | PDGFRA | c.2527A>C (p.Ile843Leu) c.1807A>C (p.Ile603Leu) c.2602A>C (p.Ile868Leu) c.2566A>C (p.Ile856Leu) | |
| 4 | g.54285928A>G | CA356895035 | PDGFRA | c.2527A>G (p.Ile843Val) c.1807A>G (p.Ile603Val) c.2602A>G (p.Ile868Val) c.2566A>G (p.Ile856Val) | |
| 4 | g.54285928A>T | CA356895034 | PDGFRA | c.2527A>T (p.Ile843Phe) c.1807A>T (p.Ile603Phe) c.2602A>T (p.Ile868Phe) c.2566A>T (p.Ile856Phe) | |
| 4 | g.54285928_54285939del | CA16602705 | PDGFRA | c.2527_2538del (p.Ile843_Asp846del) c.1807_1818del (p.Ile603_Asp606del) c.2602_2613del (p.Ile868_Asp871del) c.2566_2577del (p.Ile856_Asp859del) | ClinVar dbSNP COSMIC |
| 4 | g.54285928_54285940delinsATCATGCATGATT | CA1458537029 | PDGFRA | c.2527_2539delinsATCATGCATGATT (p.Ile843=) c.1807_1819delinsATCATGCATGATT (p.Ile603=) c.2602_2614delinsATCATGCATGATT (p.Ile868=) c.2566_2578delinsATCATGCATGATT (p.Ile856=) | |
| 4 | g.54285929T>A | CA356895037 | PDGFRA | c.2528T>A (p.Ile843Asn) c.1808T>A (p.Ile603Asn) c.2603T>A (p.Ile868Asn) c.2567T>A (p.Ile856Asn) | |
| 4 | g.54285929T>C | CA356895038 | PDGFRA | c.2528T>C (p.Ile843Thr) c.1808T>C (p.Ile603Thr) c.2603T>C (p.Ile868Thr) c.2567T>C (p.Ile856Thr) | gnomAD v4 |
| 4 | g.54285929T>G | CA356895039 | PDGFRA | c.2528T>G (p.Ile843Ser) c.1808T>G (p.Ile603Ser) c.2603T>G (p.Ile868Ser) c.2567T>G (p.Ile856Ser) | |
| 4 | g.54285929_54285940del | CA96866793 | PDGFRA | c.2528_2539del (p.Ile843_Ser847delinsThr) c.1808_1819del (p.Ile603_Ser607delinsThr) c.2603_2614del (p.Ile868_Ser872delinsThr) c.2567_2578del (p.Ile856_Ser860delinsThr) | dbSNP COSMIC |
| 4 | g.54285930C>A | CA439287850 | PDGFRA | c.2529C>A (p.Ile843=) c.1809C>A (p.Ile603=) c.2604C>A (p.Ile868=) c.2568C>A (p.Ile856=) | |
| 4 | g.54285930C= | CA1458537030 | PDGFRA | c.2529C= (p.Ile843=) c.1809C= (p.Ile603=) c.2604C= (p.Ile868=) c.2568C= (p.Ile856=) | |
| 4 | g.54285930C>G | CA356895040 | PDGFRA | c.2529C>G (p.Ile843Met) c.1809C>G (p.Ile603Met) c.2604C>G (p.Ile868Met) c.2568C>G (p.Ile856Met) | dbSNP |