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.148994580_148994604delinsGTGGGTGGTTGGGTGGTTAGATGGT | CA1590297718 | SH3TC2 | c.*10107_*10131delinsACCATCTAACCACCCAACCACCCAC (n.*10107_*10131delinsACCATCTAACCACCCAACCACCCAC) c.*12+9122_*12+9146delinsACCATCTAACCACCCAACCACCCAC (n.*12+9122_*12+9146delinsACCATCTAACCACCCAACCACCCAC) n.231+12277_231+12301delinsACCATCTAACCACCCAACCACCCAC | |
| 5 | g.148994590_148994597dup | CA563537136 | SH3TC2 | c.*10123_*10130dup (n.*10123_*10130dup) c.*12+9138_*12+9145dup (n.*12+9138_*12+9145dup) n.231+12293_231+12300dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148994584_148994607del | CA805483634 | SH3TC2 | c.*10107_*10130del (n.*10107_*10130del) c.*12+9122_*12+9145del (n.*12+9122_*12+9145del) n.231+12277_231+12300del | dbSNP |
| 5 | g.148994583_148994597delinsGGTGGTTGGGTGGTT | CA1590297719 | SH3TC2 | c.*10114_*10128delinsAACCACCCAACCACC (n.*10114_*10128delinsAACCACCCAACCACC) c.*12+9129_*12+9143delinsAACCACCCAACCACC (n.*12+9129_*12+9143delinsAACCACCCAACCACC) n.231+12284_231+12298delinsAACCACCCAACCACC | |
| 5 | g.148994584G>A | CA1590297721 | SH3TC2 | c.*10127C>T (n.*10127C>T) c.*12+9142C>T (n.*12+9142C>T) n.231+12297C>T | dbSNP |
| 5 | g.148994584G= | CA1590297720 | SH3TC2 | c.*10127C= (n.*10127C=) c.*12+9142C= (n.*12+9142C=) n.231+12297C= | |
| 5 | g.148994584_148994597del | CA1082791692 | SH3TC2 | c.*10114_*10127del (n.*10114_*10127del) c.*12+9129_*12+9142del (n.*12+9129_*12+9142del) n.231+12284_231+12297del | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148994585T>C | CA805483637 | SH3TC2 | c.*10126A>G (n.*10126A>G) c.*12+9141A>G (n.*12+9141A>G) n.231+12296A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148994585T= | CA1590297722 | SH3TC2 | c.*10126A= (n.*10126A=) c.*12+9141A= (n.*12+9141A=) n.231+12296A= | |
| 5 | g.148994587G>A | CA1590297723 | SH3TC2 | c.*10124C>T (n.*10124C>T) c.*12+9139C>T (n.*12+9139C>T) n.231+12294C>T | dbSNP |
| 5 | g.148994587G= | CA1590297724 | SH3TC2 | c.*10124C= (n.*10124C=) c.*12+9139C= (n.*12+9139C=) n.231+12294C= | |
| 5 | g.148994587_148994588insAAGCGTTACACA | CA1590297725 | SH3TC2 | c.*10123_*10124insTGTGTAACGCTT (n.*10123_*10124insTGTGTAACGCTT) c.*12+9138_*12+9139insTGTGTAACGCTT (n.*12+9138_*12+9139insTGTGTAACGCTT) n.231+12293_231+12294insTGTGTAACGCTT | dbSNP |
| 5 | g.148994591G>A | CA1590297727 | SH3TC2 | c.*10120C>T (n.*10120C>T) c.*12+9135C>T (n.*12+9135C>T) n.231+12290C>T | dbSNP |
| 5 | g.148994591G= | CA1590297726 | SH3TC2 | c.*10120C= (n.*10120C=) c.*12+9135C= (n.*12+9135C=) n.231+12290C= | |
| 5 | g.148994591G>T | CA10620652 | SH3TC2 | c.*10120C>A (n.*10120C>A) c.*12+9135C>A (n.*12+9135C>A) n.231+12290C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148994592G= | CA1590297730 | SH3TC2 | c.*10119C= (n.*10119C=) c.*12+9134C= (n.*12+9134C=) n.231+12289C= | |
| 5 | g.148994592G>T | CA1590297731 | SH3TC2 | c.*10119C>A (n.*10119C>A) c.*12+9134C>A (n.*12+9134C>A) n.231+12289C>A | dbSNP |
| 5 | g.148994597_148994598insGTGTGGTT | CA1590297728 | SH3TC2 | c.*10119_*10120insACAACCAC (n.*10119_*10120insACAACCAC) c.*12+9134_*12+9135insACAACCAC (n.*12+9134_*12+9135insACAACCAC) n.231+12289_231+12290insACAACCAC | dbSNP |
| 5 | g.148994592_148994600delinsGTGGTTAGA | CA1590297732 | SH3TC2 | c.*10111_*10119delinsTCTAACCAC (n.*10111_*10119delinsTCTAACCAC) c.*12+9126_*12+9134delinsTCTAACCAC (n.*12+9126_*12+9134delinsTCTAACCAC) n.231+12281_231+12289delinsTCTAACCAC | |
| 5 | g.148994592_148994612delinsGTGGTTAGATGGTTGGTTGGT | CA1590297729 | SH3TC2 | c.*10099_*10119delinsACCAACCAACCATCTAACCAC (n.*10099_*10119delinsACCAACCAACCATCTAACCAC) c.*12+9114_*12+9134delinsACCAACCAACCATCTAACCAC (n.*12+9114_*12+9134delinsACCAACCAACCATCTAACCAC) n.231+12269_231+12289delinsACCAACCAACCATCTAACCAC | |
| 5 | g.148994593T>G | CA1590297734 | SH3TC2 | c.*10118A>C (n.*10118A>C) c.*12+9133A>C (n.*12+9133A>C) n.231+12288A>C | dbSNP |
| 5 | g.148994593T= | CA1590297733 | SH3TC2 | c.*10118A= (n.*10118A=) c.*12+9133A= (n.*12+9133A=) n.231+12288A= | |
| 5 | g.148994598_148994605del | CA1082791702 | SH3TC2 | c.*10111_*10118del (n.*10111_*10118del) c.*12+9126_*12+9133del (n.*12+9126_*12+9133del) n.231+12281_231+12288del | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148994598_148994617del | CA563537139 | SH3TC2 | c.*10099_*10118del (n.*10099_*10118del) c.*12+9114_*12+9133del (n.*12+9114_*12+9133del) n.231+12269_231+12288del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148994594G= | CA1590297735 | SH3TC2 | c.*10117C= (n.*10117C=) c.*12+9132C= (n.*12+9132C=) n.231+12287C= | |
| 5 | g.148994594G>T | CA1590297736 | SH3TC2 | c.*10117C>A (n.*10117C>A) c.*12+9132C>A (n.*12+9132C>A) n.231+12287C>A | dbSNP |
| 5 | g.148994596_148994600delinsTTAGA | CA1590297737 | SH3TC2 | c.*10111_*10115delinsTCTAA (n.*10111_*10115delinsTCTAA) c.*12+9126_*12+9130delinsTCTAA (n.*12+9126_*12+9130delinsTCTAA) n.231+12281_231+12285delinsTCTAA | |
| 5 | g.148994598_148994601del | CA10623242 | SH3TC2 | c.*10111_*10114del (n.*10111_*10114del) c.*12+9126_*12+9129del (n.*12+9126_*12+9129del) n.231+12281_231+12284del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148994598A= | CA1590297738 | SH3TC2 | c.*10113T= (n.*10113T=) c.*12+9128T= (n.*12+9128T=) n.231+12283T= | |
| 5 | g.148994598A>G | CA128989022 | SH3TC2 | c.*10113T>C (n.*10113T>C) c.*12+9128T>C (n.*12+9128T>C) n.231+12283T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148994598_148994606delinsAGATGGTTG | CA1590297739 | SH3TC2 | c.*10105_*10113delinsCAACCATCT (n.*10105_*10113delinsCAACCATCT) c.*12+9120_*12+9128delinsCAACCATCT (n.*12+9120_*12+9128delinsCAACCATCT) n.231+12275_231+12283delinsCAACCATCT | |
| 5 | g.148994598_148994608delinsAGATGGTTGGT | CA1590297740 | SH3TC2 | c.*10103_*10113delinsACCAACCATCT (n.*10103_*10113delinsACCAACCATCT) c.*12+9118_*12+9128delinsACCAACCATCT (n.*12+9118_*12+9128delinsACCAACCATCT) n.231+12273_231+12283delinsACCAACCATCT | |
| 5 | g.148994599G= | CA1590297742 | SH3TC2 | c.*10112C= (n.*10112C=) c.*12+9127C= (n.*12+9127C=) n.231+12282C= | |
| 5 | g.148994599G>T | CA1590297743 | SH3TC2 | c.*10112C>A (n.*10112C>A) c.*12+9127C>A (n.*12+9127C>A) n.231+12282C>A | dbSNP |
| 5 | g.148994600_148994607del | CA1590297741 | SH3TC2 | c.*10105_*10112del (n.*10105_*10112del) c.*12+9120_*12+9127del (n.*12+9120_*12+9127del) n.231+12275_231+12282del | dbSNP |
| 5 | g.148994599_148994608del | CA1082791709 | SH3TC2 | c.*10103_*10112del (n.*10103_*10112del) c.*12+9118_*12+9127del (n.*12+9118_*12+9127del) n.231+12273_231+12282del | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148994599_148994600insTGGT | CA650763944 | SH3TC2 | c.*10111_*10112insACCA (n.*10111_*10112insACCA) c.*12+9126_*12+9127insACCA (n.*12+9126_*12+9127insACCA) n.231+12281_231+12282insACCA | COSMIC |
| 5 | g.148994600A= | CA1590297744 | SH3TC2 | c.*10111T= (n.*10111T=) c.*12+9126T= (n.*12+9126T=) n.231+12281T= | |
| 5 | g.148994600A>G | CA128989031 | SH3TC2 | c.*10111T>C (n.*10111T>C) c.*12+9126T>C (n.*12+9126T>C) n.231+12281T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148994600A>T | CA805483648 | SH3TC2 | c.*10111T>A (n.*10111T>A) c.*12+9126T>A (n.*12+9126T>A) n.231+12281T>A | dbSNP |
| 5 | g.148994600_148994604delinsATGGT | CA2497029646 | SH3TC2 | c.*10107_*10111delinsACCAT (n.*10107_*10111delinsACCAT) c.*12+9122_*12+9126delinsACCAT (n.*12+9122_*12+9126delinsACCAT) n.231+12277_231+12281delinsACCAT | |
| 5 | g.148994600_148994608delinsATGGTTGGT | CA2588340345 | SH3TC2 | c.*10103_*10111delinsACCAACCAT (n.*10103_*10111delinsACCAACCAT) c.*12+9118_*12+9126delinsACCAACCAT (n.*12+9118_*12+9126delinsACCAACCAT) n.231+12273_231+12281delinsACCAACCAT | |
| 5 | g.148994600_148994612delinsATGGTTGGTTGGT | CA2695196139 | SH3TC2 | c.*10099_*10111delinsACCAACCAACCAT (n.*10099_*10111delinsACCAACCAACCAT) c.*12+9114_*12+9126delinsACCAACCAACCAT (n.*12+9114_*12+9126delinsACCAACCAACCAT) n.231+12269_231+12281delinsACCAACCAACCAT | |
| 5 | g.148994600_148994632delinsATGGTTGGTTGGTTGGTTGGTTGGTTGGTTGGT | CA1590297745 | SH3TC2 | c.*10079_*10111delinsACCAACCAACCAACCAACCAACCAACCAACCAT (n.*10079_*10111delinsACCAACCAACCAACCAACCAACCAACCAACCAT) c.*12+9094_*12+9126delinsACCAACCAACCAACCAACCAACCAACCAACCAT (n.*12+9094_*12+9126delinsACCAACCAACCAACCAACCAACCAACCAACCAT) n.231+12249_231+12281delinsACCAACCAACCAACCAACCAACCAACCAACCAT | |
| 5 | g.148994601T>C | CA1590297746 | SH3TC2 | c.*10110A>G (n.*10110A>G) c.*12+9125A>G (n.*12+9125A>G) n.231+12280A>G | dbSNP |
| 5 | g.148994601T>G | CA563537148 | SH3TC2 | c.*10110A>C (n.*10110A>C) c.*12+9125A>C (n.*12+9125A>C) n.231+12280A>C | gnomAD v2 |
| 5 | g.148994601T= | CA1590297747 | SH3TC2 | c.*10110A= (n.*10110A=) c.*12+9125A= (n.*12+9125A=) n.231+12280A= | |
| 5 | g.148994658_148994661dup | CA10623363 | SH3TC2 | c.*10107_*10110dup (n.*10107_*10110dup) c.*12+9122_*12+9125dup (n.*12+9122_*12+9125dup) n.231+12277_231+12280dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148994654_148994661dup | CA128989037 | SH3TC2 | c.*10103_*10110dup (n.*10103_*10110dup) c.*12+9118_*12+9125dup (n.*12+9118_*12+9125dup) n.231+12273_231+12280dup | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.148994650_148994661dup | CA1082791766 | SH3TC2 | c.*10099_*10110dup (n.*10099_*10110dup) c.*12+9114_*12+9125dup (n.*12+9114_*12+9125dup) n.231+12269_231+12280dup | dbSNP gnomAD v3 gnomAD v4 |