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.30737172_30737181delinsACCCACCGGC | CA2216733041 | SRCAP | c.7132_7141delinsACCCACCGGC (p.Thr2378=) c.1412_1421delinsACCCACCGGC c.6601_6610delinsACCCACCGGC (p.Thr2201=) c.6355_6364delinsACCCACCGGC (p.Thr2119=) | |
| 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.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=) | |
| 16 | g.30737181C>G | CA395632205 | SRCAP | c.7141C>G (p.Arg2381Gly) c.1421C>G c.6610C>G (p.Arg2204Gly) c.6364C>G (p.Arg2122Gly) | |
| 16 | g.30737181C>T | CA395632206 | SRCAP | c.7141C>T (p.Arg2381Cys) c.1421C>T c.6610C>T (p.Arg2204Cys) c.6364C>T (p.Arg2122Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30737182G>A | CA8012429 | SRCAP | c.7142G>A (p.Arg2381His) c.1422G>A c.6611G>A (p.Arg2204His) c.6365G>A (p.Arg2122His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30737182G>C | CA395632207 | SRCAP | c.7142G>C (p.Arg2381Pro) c.1422G>C c.6611G>C (p.Arg2204Pro) c.6365G>C (p.Arg2122Pro) | |
| 16 | g.30737182G= | CA2216733093 | SRCAP | c.7142G= (p.Arg2381=) c.1422G= c.6611G= (p.Arg2204=) c.6365G= (p.Arg2122=) | |
| 16 | g.30737182G>T | CA395632208 | SRCAP | c.7142G>T (p.Arg2381Leu) c.1422G>T c.6611G>T (p.Arg2204Leu) c.6365G>T (p.Arg2122Leu) | dbSNP |
| 16 | g.30737183C>A | CA494910410 | SRCAP | c.7143C>A (p.Arg2381=) c.1423C>A c.6612C>A (p.Arg2204=) c.6366C>A (p.Arg2122=) | gnomAD v4 |
| 16 | g.30737183C= | CA2216733096 | SRCAP | c.7143C= (p.Arg2381=) c.1423C= c.6612C= (p.Arg2204=) c.6366C= (p.Arg2122=) | |
| 16 | g.30737183C>G | CA494910411 | SRCAP | c.7143C>G (p.Arg2381=) c.1423C>G c.6612C>G (p.Arg2204=) c.6366C>G (p.Arg2122=) | |
| 16 | g.30737183C>T | CA494910413 | SRCAP | c.7143C>T (p.Arg2381=) c.1423C>T c.6612C>T (p.Arg2204=) c.6366C>T (p.Arg2122=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30737184A= | CA2216733102 | SRCAP | c.7144A= (p.Ser2382=) c.1424A= c.6613A= (p.Ser2205=) c.6367A= (p.Ser2123=) | |
| 16 | g.30737184A>C | CA395632209 | SRCAP | c.7144A>C (p.Ser2382Arg) c.1424A>C c.6613A>C (p.Ser2205Arg) c.6367A>C (p.Ser2123Arg) | |
| 16 | g.30737184A>G | CA395632210 | SRCAP | c.7144A>G (p.Ser2382Gly) c.1424A>G c.6613A>G (p.Ser2205Gly) c.6367A>G (p.Ser2123Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30737184A>T | CA395632211 | SRCAP | c.7144A>T (p.Ser2382Cys) c.1424A>T c.6613A>T (p.Ser2205Cys) c.6367A>T (p.Ser2123Cys) | gnomAD v4 |
| 16 | g.30737185G>A | CA395632212 | SRCAP | c.7145G>A (p.Ser2382Asn) c.1425G>A c.6614G>A (p.Ser2205Asn) c.6368G>A (p.Ser2123Asn) | |
| 16 | g.30737185G>C | CA280523515 | SRCAP | c.7145G>C (p.Ser2382Thr) c.1425G>C c.6614G>C (p.Ser2205Thr) c.6368G>C (p.Ser2123Thr) | dbSNP gnomAD v4 |
| 16 | g.30737185G= | CA2216733116 | SRCAP | c.7145G= (p.Ser2382=) c.1425G= c.6614G= (p.Ser2205=) c.6368G= (p.Ser2123=) | |
| 16 | g.30737185G>T | CA395632213 | SRCAP | c.7145G>T (p.Ser2382Ile) c.1425G>T c.6614G>T (p.Ser2205Ile) c.6368G>T (p.Ser2123Ile) | |
| 16 | g.30737186T>A | CA395632214 | SRCAP | c.7146T>A (p.Ser2382Arg) c.1426T>A c.6615T>A (p.Ser2205Arg) c.6369T>A (p.Ser2123Arg) | |
| 16 | g.30737186T>C | CA494910416 | SRCAP | c.7146T>C (p.Ser2382=) c.1426T>C c.6615T>C (p.Ser2205=) c.6369T>C (p.Ser2123=) | |
| 16 | g.30737186T>G | CA395632215 | SRCAP | c.7146T>G (p.Ser2382Arg) c.1426T>G c.6615T>G (p.Ser2205Arg) c.6369T>G (p.Ser2123Arg) | |
| 16 | g.30737187A>C | CA395632216 | SRCAP | c.7147A>C (p.Lys2383Gln) c.1427A>C c.6616A>C (p.Lys2206Gln) c.6370A>C (p.Lys2124Gln) | gnomAD v4 |
| 16 | g.30737187A>G | CA395632217 | SRCAP | c.7147A>G (p.Lys2383Glu) c.1427A>G c.6616A>G (p.Lys2206Glu) c.6370A>G (p.Lys2124Glu) | |
| 16 | g.30737187A>T | CA395632218 | SRCAP | c.7147A>T (p.Lys2383Ter) c.1427A>T c.6616A>T (p.Lys2206Ter) c.6370A>T (p.Lys2124Ter) | |
| 16 | g.30737191dup | CA2732098738 | SRCAP | c.7151dup (p.Ala2385GlyfsTer5) c.1431dup c.6620dup (p.Ala2208GlyfsTer5) c.6374dup (p.Ala2126GlyfsTer5) | dbSNP |
| 16 | g.30737188A>C | CA395632219 | SRCAP | c.7148A>C (p.Lys2383Thr) c.1428A>C c.6617A>C (p.Lys2206Thr) c.6371A>C (p.Lys2124Thr) |