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 |
|---|---|---|---|---|---|
| 16 | g.30737172_30737181del | CA2632760217 | SRCAP | c.7132_7141del (p.Thr2378AlafsTer?) c.1412_1421del c.6601_6610del (p.Thr2201AlafsTer?) c.6355_6364del (p.Thr2119AlafsTer?) | gnomAD v4 |
| 16 | g.30737170G>A | CA395632188 | SRCAP | c.7130G>A (p.Gly2377Asp) c.1410G>A c.6599G>A (p.Gly2200Asp) c.6353G>A (p.Gly2118Asp) | |
| 16 | g.30737170G>C | CA395632186 | SRCAP | c.7130G>C (p.Gly2377Ala) c.1410G>C c.6599G>C (p.Gly2200Ala) c.6353G>C (p.Gly2118Ala) | |
| 16 | g.30737170G= | CA2216733034 | SRCAP | c.7130G= (p.Gly2377=) c.1410G= c.6599G= (p.Gly2200=) c.6353G= (p.Gly2118=) | |
| 16 | g.30737170G>T | CA395632187 | SRCAP | c.7130G>T (p.Gly2377Val) c.1410G>T c.6599G>T (p.Gly2200Val) c.6353G>T (p.Gly2118Val) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30737171C>A | CA494910395 | SRCAP | c.7131C>A (p.Gly2377=) c.1411C>A c.6600C>A (p.Gly2200=) c.6354C>A (p.Gly2118=) | |
| 16 | g.30737171C= | CA2216733036 | SRCAP | c.7131C= (p.Gly2377=) c.1411C= c.6600C= (p.Gly2200=) c.6354C= (p.Gly2118=) | |
| 16 | g.30737171C>G | CA494910396 | SRCAP | c.7131C>G (p.Gly2377=) c.1411C>G c.6600C>G (p.Gly2200=) c.6354C>G (p.Gly2118=) | |
| 16 | g.30737171C>T | CA8012422 | SRCAP | c.7131C>T (p.Gly2377=) c.1411C>T c.6600C>T (p.Gly2200=) c.6354C>T (p.Gly2118=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30737172A= | CA2216733040 | SRCAP | c.7132A= (p.Thr2378=) c.1412A= c.6601A= (p.Thr2201=) c.6355A= (p.Thr2119=) | |
| 16 | g.30737172A>C | CA395632189 | SRCAP | c.7132A>C (p.Thr2378Pro) c.1412A>C c.6601A>C (p.Thr2201Pro) c.6355A>C (p.Thr2119Pro) | |
| 16 | g.30737172A>G | CA395632190 | SRCAP | c.7132A>G (p.Thr2378Ala) c.1412A>G c.6601A>G (p.Thr2201Ala) c.6355A>G (p.Thr2119Ala) | |
| 16 | g.30737172A>T | CA395632191 | SRCAP | c.7132A>T (p.Thr2378Ser) c.1412A>T c.6601A>T (p.Thr2201Ser) c.6355A>T (p.Thr2119Ser) | |
| 16 | g.30737172_30737181delinsACCCACCGGC | CA2216733041 | SRCAP | c.7132_7141delinsACCCACCGGC (p.Thr2378=) c.1412_1421delinsACCCACCGGC c.6601_6610delinsACCCACCGGC (p.Thr2201=) c.6355_6364delinsACCCACCGGC (p.Thr2119=) | |
| 16 | g.30737172_30737173insGCG | CA8012423 | SRCAP | c.7132_7133insGCG (p.Thr2378delinsSerAla) c.1412_1413insGCG c.6601_6602insGCG (p.Thr2201delinsSerAla) c.6355_6356insGCG (p.Thr2119delinsSerAla) | dbSNP ExAC |
| 16 | g.30737173C>A | CA395632192 | SRCAP | c.7133C>A (p.Thr2378Asn) c.1413C>A c.6602C>A (p.Thr2201Asn) c.6356C>A (p.Thr2119Asn) | |
| 16 | g.30737173C= | CA2216733047 | SRCAP | c.7133C= (p.Thr2378=) c.1413C= c.6602C= (p.Thr2201=) c.6356C= (p.Thr2119=) | |
| 16 | g.30737173C>G | CA395632193 | SRCAP | c.7133C>G (p.Thr2378Ser) c.1413C>G c.6602C>G (p.Thr2201Ser) c.6356C>G (p.Thr2119Ser) | |
| 16 | g.30737173C>T | CA8012424 | SRCAP | c.7133C>T (p.Thr2378Ile) c.1413C>T c.6602C>T (p.Thr2201Ile) c.6356C>T (p.Thr2119Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.30737173_30737181del | CA622169776 | SRCAP | c.7133_7141del (p.Thr2378_Arg2381delinsSer) c.1413_1421del c.6602_6610del (p.Thr2201_Arg2204delinsSer) c.6356_6364del (p.Thr2119_Arg2122delinsSer) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30737174C>A | CA494910402 | SRCAP | c.7134C>A (p.Thr2378=) c.1414C>A c.6603C>A (p.Thr2201=) c.6357C>A (p.Thr2119=) | |
| 16 | g.30737174C= | CA2216733051 | SRCAP | c.7134C= (p.Thr2378=) c.1414C= c.6603C= (p.Thr2201=) c.6357C= (p.Thr2119=) | |
| 16 | g.30737174C>G | CA494910401 | SRCAP | c.7134C>G (p.Thr2378=) c.1414C>G c.6603C>G (p.Thr2201=) c.6357C>G (p.Thr2119=) | |
| 16 | g.30737174C>T | CA494910400 | SRCAP | c.7134C>T (p.Thr2378=) c.1414C>T c.6603C>T (p.Thr2201=) c.6357C>T (p.Thr2119=) | |
| 16 | g.30737175C>A | CA395632194 | SRCAP | c.7135C>A (p.His2379Asn) c.1415C>A c.6604C>A (p.His2202Asn) c.6358C>A (p.His2120Asn) | |
| 16 | g.30737175C= | CA2216733060 | SRCAP | c.7135C= (p.His2379=) c.1415C= c.6604C= (p.His2202=) c.6358C= (p.His2120=) | |
| 16 | g.30737175C>G | CA395632195 | SRCAP | c.7135C>G (p.His2379Asp) c.1415C>G c.6604C>G (p.His2202Asp) c.6358C>G (p.His2120Asp) | |
| 16 | g.30737175C>T | CA395632196 | SRCAP | c.7135C>T (p.His2379Tyr) c.1415C>T c.6604C>T (p.His2202Tyr) c.6358C>T (p.His2120Tyr) | dbSNP gnomAD v4 |
| 16 | g.30737175_30737176insGGGTGAATTGTGCATTTTTATTC | CA8012425 | SRCAP | c.7135_7136insGGGTGAATTGTGCATTTTTATTC (p.His2379ArgfsTer?) c.1415_1416insGGGTGAATTGTGCATTTTTATTC c.6604_6605insGGGTGAATTGTGCATTTTTATTC (p.His2202ArgfsTer?) c.6358_6359insGGGTGAATTGTGCATTTTTATTC (p.His2120ArgfsTer?) | dbSNP ExAC |
| 16 | g.30737176A>C | CA395632199 | SRCAP | c.7136A>C (p.His2379Pro) c.1416A>C c.6605A>C (p.His2202Pro) c.6359A>C (p.His2120Pro) | |
| 16 | g.30737176A>G | CA395632198 | SRCAP | c.7136A>G (p.His2379Arg) c.1416A>G c.6605A>G (p.His2202Arg) c.6359A>G (p.His2120Arg) | |
| 16 | g.30737176A>T | CA395632197 | SRCAP | c.7136A>T (p.His2379Leu) c.1416A>T c.6605A>T (p.His2202Leu) c.6359A>T (p.His2120Leu) | |
| 16 | g.30737177C>A | CA395632200 | SRCAP | c.7137C>A (p.His2379Gln) c.1417C>A c.6606C>A (p.His2202Gln) c.6360C>A (p.His2120Gln) | |
| 16 | g.30737177C= | CA2216733066 | SRCAP | c.7137C= (p.His2379=) c.1417C= c.6606C= (p.His2202=) c.6360C= (p.His2120=) | |
| 16 | g.30737177C>G | CA8012426 | SRCAP | c.7137C>G (p.His2379Gln) c.1417C>G c.6606C>G (p.His2202Gln) c.6360C>G (p.His2120Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30737177C>T | CA494910405 | SRCAP | c.7137C>T (p.His2379=) c.1417C>T c.6606C>T (p.His2202=) c.6360C>T (p.His2120=) | dbSNP gnomAD v4 |
| 16 | g.30737178C>A | CA494910406 | SRCAP | c.7138C>A (p.Arg2380=) c.1418C>A c.6607C>A (p.Arg2203=) c.6361C>A (p.Arg2121=) | dbSNP gnomAD v4 |
| 16 | g.30737178C= | CA2216733071 | SRCAP | c.7138C= (p.Arg2380=) c.1418C= c.6607C= (p.Arg2203=) c.6361C= (p.Arg2121=) | |
| 16 | g.30737178C>G | CA8012427 | SRCAP | c.7138C>G (p.Arg2380Gly) c.1418C>G c.6607C>G (p.Arg2203Gly) c.6361C>G (p.Arg2121Gly) | dbSNP ExAC gnomAD v4 |
| 16 | g.30737178C>T | CA395632201 | SRCAP | c.7138C>T (p.Arg2380Trp) c.1418C>T c.6607C>T (p.Arg2203Trp) c.6361C>T (p.Arg2121Trp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.30737179G>A | CA395632203 | SRCAP | c.7139G>A (p.Arg2380Gln) c.1419G>A c.6608G>A (p.Arg2203Gln) c.6362G>A (p.Arg2121Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30737179G>C | CA395632202 | SRCAP | c.7139G>C (p.Arg2380Pro) c.1419G>C c.6608G>C (p.Arg2203Pro) c.6362G>C (p.Arg2121Pro) | |
| 16 | g.30737179G= | CA2216733080 | SRCAP | c.7139G= (p.Arg2380=) c.1419G= c.6608G= (p.Arg2203=) c.6362G= (p.Arg2121=) | |
| 16 | g.30737179G>T | CA8012428 | SRCAP | c.7139G>T (p.Arg2380Leu) c.1419G>T c.6608G>T (p.Arg2203Leu) c.6362G>T (p.Arg2121Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30737179_30737180delinsTT | CA645587757 | SRCAP | c.7139_7140delinsTT (p.Arg2380Leu) c.1419_1420delinsTT c.6608_6609delinsTT (p.Arg2203Leu) c.6362_6363delinsTT (p.Arg2121Leu) | COSMIC |
| 16 | g.30737180G>A | CA494910407 | SRCAP | c.7140G>A (p.Arg2380=) c.1420G>A c.6609G>A (p.Arg2203=) c.6363G>A (p.Arg2121=) | |
| 16 | g.30737180G>C | CA494910408 | SRCAP | c.7140G>C (p.Arg2380=) c.1420G>C c.6609G>C (p.Arg2203=) c.6363G>C (p.Arg2121=) | |
| 16 | g.30737180G>T | CA494910409 | SRCAP | c.7140G>T (p.Arg2380=) c.1420G>T c.6609G>T (p.Arg2203=) c.6363G>T (p.Arg2121=) | |
| 16 | g.30737181C>A | CA395632204 | SRCAP | c.7141C>A (p.Arg2381Ser) c.1421C>A c.6610C>A (p.Arg2204Ser) c.6364C>A (p.Arg2122Ser) | |
| 16 | g.30737181C= | CA2216733087 | SRCAP | c.7141C= (p.Arg2381=) c.1421C= c.6610C= (p.Arg2204=) c.6364C= (p.Arg2122=) |