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.151828959_151828962delinsCCTT | CA1591567983 | GLRA1 | c.1018_1021delinsAAGG (p.Lys340=) c.*776_*779delinsAAGG (n.*776_*779delinsAAGG) c.769_772delinsAAGG (p.Lys257=) | |
| 5 | g.151828960C>A | CA361851386 | GLRA1 | c.1020G>T (p.Lys340Asn) c.*778G>T (n.*778G>T) c.771G>T (p.Lys257Asn) | |
| 5 | g.151828960C>G | CA361851388 | GLRA1 | c.1020G>C (p.Lys340Asn) c.*778G>C (n.*778G>C) c.771G>C (p.Lys257Asn) | |
| 5 | g.151828960C>T | CA447226742 | GLRA1 | c.1020G>A (p.Lys340=) c.*778G>A (n.*778G>A) c.771G>A (p.Lys257=) | |
| 5 | g.151828960_151828962del | CA3523556 | GLRA1 | c.1018_1020del (p.Lys340del) c.*776_*778del (n.*776_*778del) c.769_771del (p.Lys257del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151828961T>A | CA361851392 | GLRA1 | c.1019A>T (p.Lys340Met) c.*777A>T (n.*777A>T) c.770A>T (p.Lys257Met) | |
| 5 | g.151828961T>C | CA361851394 | GLRA1 | c.1019A>G (p.Lys340Arg) c.*777A>G (n.*777A>G) c.770A>G (p.Lys257Arg) | |
| 5 | g.151828961T>G | CA361851396 | GLRA1 | c.1019A>C (p.Lys340Thr) c.*777A>C (n.*777A>C) c.770A>C (p.Lys257Thr) | |
| 5 | g.151828962T>A | CA361851398 | GLRA1 | c.1018A>T (p.Lys340Ter) c.*776A>T (n.*776A>T) c.769A>T (p.Lys257Ter) | |
| 5 | g.151828962T>C | CA361851401 | GLRA1 | c.1018A>G (p.Lys340Glu) c.*776A>G (n.*776A>G) c.769A>G (p.Lys257Glu) | |
| 5 | g.151828962T>G | CA361851403 | GLRA1 | c.1018A>C (p.Lys340Gln) c.*776A>C (n.*776A>C) c.769A>C (p.Lys257Gln) | |
| 5 | g.151828963A= | CA1591567985 | GLRA1 | c.1017T= (p.His339=) c.*775T= (n.*775T=) c.768T= (p.His256=) | |
| 5 | g.151828963A>C | CA361851410 | GLRA1 | c.1017T>G (p.His339Gln) c.*775T>G (n.*775T>G) c.768T>G (p.His256Gln) | dbSNP |
| 5 | g.151828963A>G | CA447226743 | GLRA1 | c.1017T>C (p.His339=) c.*775T>C (n.*775T>C) c.768T>C (p.His256=) | |
| 5 | g.151828963A>T | CA130010074 | GLRA1 | c.1017T>A (p.His339Gln) c.*775T>A (n.*775T>A) c.768T>A (p.His256Gln) | dbSNP |
| 5 | g.151828964T>A | CA361851412 | GLRA1 | c.1016A>T (p.His339Leu) c.*774A>T (n.*774A>T) c.767A>T (p.His256Leu) | |
| 5 | g.151828964T>C | CA3523557 | GLRA1 | c.1016A>G (p.His339Arg) c.*774A>G (n.*774A>G) c.767A>G (p.His256Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151828964T>G | CA361851422 | GLRA1 | c.1016A>C (p.His339Pro) c.*774A>C (n.*774A>C) c.767A>C (p.His256Pro) | |
| 5 | g.151828964T= | CA1591567986 | GLRA1 | c.1016A= (p.His339=) c.*774A= (n.*774A=) c.767A= (p.His256=) | |
| 5 | g.151828965G>A | CA361851424 | GLRA1 | c.1015C>T (p.His339Tyr) c.*773C>T (n.*773C>T) c.766C>T (p.His256Tyr) | |
| 5 | g.151828965G>C | CA361851427 | GLRA1 | c.1015C>G (p.His339Asp) c.*773C>G (n.*773C>G) c.766C>G (p.His256Asp) | |
| 5 | g.151828965G>T | CA361851429 | GLRA1 | c.1015C>A (p.His339Asn) c.*773C>A (n.*773C>A) c.766C>A (p.His256Asn) | |
| 5 | g.151828965_151828966delinsGT | CA1591567987 | GLRA1 | c.1014_1015delinsAC (p.Gln338=) c.*772_*773delinsAC (n.*772_*773delinsAC) c.765_766delinsAC (p.Gln255=) | |
| 5 | g.151828966T>A | CA361851432 | GLRA1 | c.1014A>T (p.Gln338His) c.*772A>T (n.*772A>T) c.765A>T (p.Gln255His) | |
| 5 | g.151828966T>C | CA447226744 | GLRA1 | c.1014A>G (p.Gln338=) c.*772A>G (n.*772A>G) c.765A>G (p.Gln255=) | |
| 5 | g.151828966T>G | CA361851434 | GLRA1 | c.1014A>C (p.Gln338His) c.*772A>C (n.*772A>C) c.765A>C (p.Gln255His) | |
| 5 | g.151828967del | CA1082972490 | GLRA1 | c.1014del (p.Gln338HisfsTer?) c.1014del (p.Gln338HisfsTer20) c.*772del (n.*772del) c.765del (p.Gln255HisfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.151828967T>A | CA361851436 | GLRA1 | c.1013A>T (p.Gln338Leu) c.*771A>T (n.*771A>T) c.764A>T (p.Gln255Leu) | |
| 5 | g.151828967T>C | CA361851437 | GLRA1 | c.1013A>G (p.Gln338Arg) c.*771A>G (n.*771A>G) c.764A>G (p.Gln255Arg) | |
| 5 | g.151828967T>G | CA361851439 | GLRA1 | c.1013A>C (p.Gln338Pro) c.*771A>C (n.*771A>C) c.764A>C (p.Gln255Pro) | |
| 5 | g.151828968G>A | CA361851443 | GLRA1 | c.1012C>T (p.Gln338Ter) c.*770C>T (n.*770C>T) c.763C>T (p.Gln255Ter) | |
| 5 | g.151828968G>C | CA361851444 | GLRA1 | c.1012C>G (p.Gln338Glu) c.*770C>G (n.*770C>G) c.763C>G (p.Gln255Glu) | |
| 5 | g.151828968G>T | CA361851441 | GLRA1 | c.1012C>A (p.Gln338Lys) c.*770C>A (n.*770C>A) c.763C>A (p.Gln255Lys) | |
| 5 | g.151828969C>A | CA447226747 | GLRA1 | c.1011G>T (p.Arg337=) c.*769G>T (n.*769G>T) c.762G>T (p.Arg254=) | |
| 5 | g.151828969C>G | CA447226746 | GLRA1 | c.1011G>C (p.Arg337=) c.*769G>C (n.*769G>C) c.762G>C (p.Arg254=) | |
| 5 | g.151828969C>T | CA447226745 | GLRA1 | c.1011G>A (p.Arg337=) c.*769G>A (n.*769G>A) c.762G>A (p.Arg254=) | gnomAD v4 |
| 5 | g.151828970C>A | CA361851447 | GLRA1 | c.1010G>T (p.Arg337Leu) c.*768G>T (n.*768G>T) c.761G>T (p.Arg254Leu) | |
| 5 | g.151828970C= | CA1591567988 | GLRA1 | c.1010G= (p.Arg337=) c.*768G= (n.*768G=) c.761G= (p.Arg254=) | |
| 5 | g.151828970C>G | CA361851449 | GLRA1 | c.1010G>C (p.Arg337Pro) c.*768G>C (n.*768G>C) c.761G>C (p.Arg254Pro) | |
| 5 | g.151828970C>T | CA361851451 | GLRA1 | c.1010G>A (p.Arg337Gln) c.*768G>A (n.*768G>A) c.761G>A (p.Arg254Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.151828971G>A | CA3523558 | GLRA1 | c.1009C>T (p.Arg337Trp) c.*767C>T (n.*767C>T) c.760C>T (p.Arg254Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.151828971G>C | CA361851455 | GLRA1 | c.1009C>G (p.Arg337Gly) c.*767C>G (n.*767C>G) c.760C>G (p.Arg254Gly) | |
| 5 | g.151828971G= | CA1591567989 | GLRA1 | c.1009C= (p.Arg337=) c.*767C= (n.*767C=) c.760C= (p.Arg254=) | |
| 5 | g.151828971G>T | CA447226748 | GLRA1 | c.1009C>A (p.Arg337=) c.*767C>A (n.*767C>A) c.760C>A (p.Arg254=) | |
| 5 | g.151828972A>C | CA447226749 | GLRA1 | c.1008T>G (p.Ser336=) c.*766T>G (n.*766T>G) c.759T>G (p.Ser253=) | |
| 5 | g.151828972A>G | CA447226750 | GLRA1 | c.1008T>C (p.Ser336=) c.*766T>C (n.*766T>C) c.759T>C (p.Ser253=) | |
| 5 | g.151828972A>T | CA447226751 | GLRA1 | c.1008T>A (p.Ser336=) c.*766T>A (n.*766T>A) c.759T>A (p.Ser253=) | |
| 5 | g.151828973G>A | CA361851459 | GLRA1 | c.1007C>T (p.Ser336Phe) c.*765C>T (n.*765C>T) c.758C>T (p.Ser253Phe) | |
| 5 | g.151828973G>C | CA361851458 | GLRA1 | c.1007C>G (p.Ser336Cys) c.*765C>G (n.*765C>G) c.758C>G (p.Ser253Cys) | |
| 5 | g.151828973G>T | CA361851457 | GLRA1 | c.1007C>A (p.Ser336Tyr) c.*765C>A (n.*765C>A) c.758C>A (p.Ser253Tyr) |