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.46312576_46312587del | CA2670518673 | GABRA2 | c.385_396del (p.His129_Lys132del) c.*116_*127del (n.*116_*127del) c.133_144del (p.His45_Lys48del) c.220_231del (p.His74_Lys77del) | gnomAD v4 |
| 4 | g.46312578_46312587del | CA1061893820 | GABRA2 | c.385_394del (p.His129LysfsTer4) c.*116_*125del (n.*116_*125del) c.133_142del (p.His45LysfsTer4) c.220_229del (p.His74LysfsTer4) | gnomAD v3 gnomAD v4 |
| 4 | g.46312579_46312587del | CA2670518674 | GABRA2 | c.385_393del (p.His129_Gly131del) c.*116_*124del (n.*116_*124del) c.133_141del (p.His45_Gly47del) c.220_228del (p.His74_Gly76del) | gnomAD v4 |
| 4 | g.46312580_46312587del | CA2670518675 | GABRA2 | c.385_392del (p.His129GlufsTer7) c.385_392del (p.His129GlufsTer?) c.*116_*123del (n.*116_*123del) c.133_140del (p.His45GlufsTer7) c.220_227del (p.His74GlufsTer7) | gnomAD v4 |
| 4 | g.46312583_46312587del | CA1061893831 | GABRA2 | c.385_389del (p.His129TrpfsTer8) c.385_389del (p.His129TrpfsTer?) c.*116_*120del (n.*116_*120del) c.133_137del (p.His45TrpfsTer8) c.220_224del (p.His74TrpfsTer8) | gnomAD v3 gnomAD v4 |
| 4 | g.46312586_46312587del | CA2670518676 | GABRA2 | c.387_388del (p.His129GlnfsTer9) c.387_388del (p.His129GlnfsTer?) c.*118_*119del (n.*118_*119del) c.135_136del (p.His45GlnfsTer9) c.222_223del (p.His74GlnfsTer9) | gnomAD v4 |
| 4 | g.46312586T>A | CA356799968 | GABRA2 | c.386A>T (p.His129Leu) c.*117A>T (n.*117A>T) c.134A>T (p.His45Leu) c.221A>T (p.His74Leu) | |
| 4 | g.46312586T>C | CA356799966 | GABRA2 | c.386A>G (p.His129Arg) c.*117A>G (n.*117A>G) c.134A>G (p.His45Arg) c.221A>G (p.His74Arg) | |
| 4 | g.46312586T>G | CA356799967 | GABRA2 | c.386A>C (p.His129Pro) c.*117A>C (n.*117A>C) c.134A>C (p.His45Pro) c.221A>C (p.His74Pro) | gnomAD v4 |
| 4 | g.46312587G>A | CA97086374 | GABRA2 | c.385C>T (p.His129Tyr) c.*116C>T (n.*116C>T) c.133C>T (p.His45Tyr) c.220C>T (p.His74Tyr) | dbSNP gnomAD v4 |
| 4 | g.46312587G>C | CA356799969 | GABRA2 | c.385C>G (p.His129Asp) c.*116C>G (n.*116C>G) c.133C>G (p.His45Asp) c.220C>G (p.His74Asp) | |
| 4 | g.46312587G= | CA1454779737 | GABRA2 | c.385C= (p.His129=) c.*116C= (n.*116C=) c.133C= (p.His45=) c.220C= (p.His74=) | |
| 4 | g.46312587G>T | CA356799970 | GABRA2 | c.385C>A (p.His129Asn) c.*116C>A (n.*116C>A) c.133C>A (p.His45Asn) c.220C>A (p.His74Asn) | gnomAD v4 |
| 4 | g.46312588A>C | CA356799971 | GABRA2 | c.384T>G (p.Phe128Leu) c.*115T>G (n.*115T>G) c.132T>G (p.Phe44Leu) c.219T>G (p.Phe73Leu) | gnomAD v4 |
| 4 | g.46312588A>G | CA439237362 | GABRA2 | c.384T>C (p.Phe128=) c.*115T>C (n.*115T>C) c.132T>C (p.Phe44=) c.219T>C (p.Phe73=) | gnomAD v4 |
| 4 | g.46312588A>T | CA356799972 | GABRA2 | c.384T>A (p.Phe128Leu) c.*115T>A (n.*115T>A) c.132T>A (p.Phe44Leu) c.219T>A (p.Phe73Leu) | |
| 4 | g.46312593_46312594insAAAAAAAAAA | CA1061893836 | GABRA2 | c.384_385insTTTTTTTTTT (p.His129PhefsTer13) c.384_385insTTTTTTTTTT (p.His129PhefsTer?) c.*115_*116insTTTTTTTTTT (n.*115_*116insTTTTTTTTTT) c.132_133insTTTTTTTTTT (p.His45PhefsTer13) c.219_220insTTTTTTTTTT (p.His74PhefsTer13) | gnomAD v3 gnomAD v4 |
| 4 | g.46312593dup | CA551265652 | GABRA2 | c.384dup (p.His129SerfsTer10) c.384dup (p.His129SerfsTer?) c.*115dup (n.*115dup) c.132dup (p.His45SerfsTer10) c.219dup (p.His74SerfsTer10) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.46312593del | CA2670518677 | GABRA2 | c.384del (p.His129ThrfsTer7) c.*115del (n.*115del) c.132del (p.His45ThrfsTer7) c.219del (p.His74ThrfsTer7) | gnomAD v4 |
| 4 | g.46312589A>C | CA356799975 | GABRA2 | c.383T>G (p.Phe128Cys) c.*114T>G (n.*114T>G) c.131T>G (p.Phe44Cys) c.218T>G (p.Phe73Cys) | gnomAD v4 |
| 4 | g.46312589A>G | CA356799974 | GABRA2 | c.383T>C (p.Phe128Ser) c.*114T>C (n.*114T>C) c.131T>C (p.Phe44Ser) c.218T>C (p.Phe73Ser) | |
| 4 | g.46312589A>T | CA356799973 | GABRA2 | c.383T>A (p.Phe128Tyr) c.*114T>A (n.*114T>A) c.131T>A (p.Phe44Tyr) c.218T>A (p.Phe73Tyr) | |
| 4 | g.46312590A>C | CA356799976 | GABRA2 | c.382T>G (p.Phe128Val) c.*113T>G (n.*113T>G) c.130T>G (p.Phe44Val) c.217T>G (p.Phe73Val) | gnomAD v4 |
| 4 | g.46312590A>G | CA356799978 | GABRA2 | c.382T>C (p.Phe128Leu) c.*113T>C (n.*113T>C) c.130T>C (p.Phe44Leu) c.217T>C (p.Phe73Leu) | |
| 4 | g.46312590A>T | CA356799977 | GABRA2 | c.382T>A (p.Phe128Ile) c.*113T>A (n.*113T>A) c.130T>A (p.Phe44Ile) c.217T>A (p.Phe73Ile) | gnomAD v4 |
| 4 | g.46312591A>C | CA356799979 | GABRA2 | c.381T>G (p.Phe127Leu) c.*112T>G (n.*112T>G) c.129T>G (p.Phe43Leu) c.216T>G (p.Phe72Leu) | |
| 4 | g.46312591A>G | CA439237363 | GABRA2 | c.381T>C (p.Phe127=) c.*112T>C (n.*112T>C) c.129T>C (p.Phe43=) c.216T>C (p.Phe72=) | |
| 4 | g.46312591A>T | CA356799980 | GABRA2 | c.381T>A (p.Phe127Leu) c.*112T>A (n.*112T>A) c.129T>A (p.Phe43Leu) c.216T>A (p.Phe72Leu) | |
| 4 | g.46312592A>C | CA356799981 | GABRA2 | c.380T>G (p.Phe127Cys) c.*111T>G (n.*111T>G) c.128T>G (p.Phe43Cys) c.215T>G (p.Phe72Cys) | |
| 4 | g.46312592A>G | CA356799982 | GABRA2 | c.380T>C (p.Phe127Ser) c.*111T>C (n.*111T>C) c.128T>C (p.Phe43Ser) c.215T>C (p.Phe72Ser) | |
| 4 | g.46312592A>T | CA356799983 | GABRA2 | c.380T>A (p.Phe127Tyr) c.*111T>A (n.*111T>A) c.128T>A (p.Phe43Tyr) c.215T>A (p.Phe72Tyr) | |
| 4 | g.46312593A= | CA1454779738 | GABRA2 | c.379T= (p.Phe127=) c.*110T= (n.*110T=) c.127T= (p.Phe43=) c.214T= (p.Phe72=) | |
| 4 | g.46312593A>C | CA356799984 | GABRA2 | c.379T>G (p.Phe127Val) c.*110T>G (n.*110T>G) c.127T>G (p.Phe43Val) c.214T>G (p.Phe72Val) | |
| 4 | g.46312593A>G | CA356799985 | GABRA2 | c.379T>C (p.Phe127Leu) c.*110T>C (n.*110T>C) c.127T>C (p.Phe43Leu) c.214T>C (p.Phe72Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.46312593A>T | CA356799986 | GABRA2 | c.379T>A (p.Phe127Ile) c.*110T>A (n.*110T>A) c.127T>A (p.Phe43Ile) c.214T>A (p.Phe72Ile) | |
| 4 | g.46312594G>A | CA439237364 | GABRA2 | c.378C>T (p.Thr126=) c.*109C>T (n.*109C>T) c.126C>T (p.Thr42=) c.213C>T (p.Thr71=) | |
| 4 | g.46312594G>C | CA439237365 | GABRA2 | c.378C>G (p.Thr126=) c.*109C>G (n.*109C>G) c.126C>G (p.Thr42=) c.213C>G (p.Thr71=) | |
| 4 | g.46312594G>T | CA439237366 | GABRA2 | c.378C>A (p.Thr126=) c.*109C>A (n.*109C>A) c.126C>A (p.Thr42=) c.213C>A (p.Thr71=) | gnomAD v4 |
| 4 | g.46312595G>A | CA356799987 | GABRA2 | c.377C>T (p.Thr126Ile) c.*108C>T (n.*108C>T) c.125C>T (p.Thr42Ile) c.212C>T (p.Thr71Ile) | |
| 4 | g.46312595G>C | CA356799988 | GABRA2 | c.377C>G (p.Thr126Ser) c.*108C>G (n.*108C>G) c.125C>G (p.Thr42Ser) c.212C>G (p.Thr71Ser) | |
| 4 | g.46312595G>T | CA356799989 | GABRA2 | c.377C>A (p.Thr126Asn) c.*108C>A (n.*108C>A) c.125C>A (p.Thr42Asn) c.212C>A (p.Thr71Asn) | |
| 4 | g.46312596T>A | CA356799992 | GABRA2 | c.376A>T (p.Thr126Ser) c.*107A>T (n.*107A>T) c.124A>T (p.Thr42Ser) c.211A>T (p.Thr71Ser) | |
| 4 | g.46312596T>C | CA356799991 | GABRA2 | c.376A>G (p.Thr126Ala) c.*107A>G (n.*107A>G) c.124A>G (p.Thr42Ala) c.211A>G (p.Thr71Ala) | |
| 4 | g.46312596T>G | CA356799990 | GABRA2 | c.376A>C (p.Thr126Pro) c.*107A>C (n.*107A>C) c.124A>C (p.Thr42Pro) c.211A>C (p.Thr71Pro) | |
| 4 | g.46312597A>C | CA356799993 | GABRA2 | c.375T>G (p.Asp125Glu) c.*106T>G (n.*106T>G) c.123T>G (p.Asp41Glu) c.210T>G (p.Asp70Glu) | |
| 4 | g.46312597A>G | CA439237367 | GABRA2 | c.375T>C (p.Asp125=) c.*106T>C (n.*106T>C) c.123T>C (p.Asp41=) c.210T>C (p.Asp70=) | gnomAD v4 |
| 4 | g.46312597A>T | CA356799994 | GABRA2 | c.375T>A (p.Asp125Glu) c.*106T>A (n.*106T>A) c.123T>A (p.Asp41Glu) c.210T>A (p.Asp70Glu) | |
| 4 | g.46312598T>A | CA356799995 | GABRA2 | c.374A>T (p.Asp125Val) c.*105A>T (n.*105A>T) c.122A>T (p.Asp41Val) c.209A>T (p.Asp70Val) | |
| 4 | g.46312598T>C | CA356799996 | GABRA2 | c.374A>G (p.Asp125Gly) c.*105A>G (n.*105A>G) c.122A>G (p.Asp41Gly) c.209A>G (p.Asp70Gly) | |
| 4 | g.46312598T>G | CA356799997 | GABRA2 | c.374A>C (p.Asp125Ala) c.*105A>C (n.*105A>C) c.122A>C (p.Asp41Ala) c.209A>C (p.Asp70Ala) |