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 |
|---|---|---|---|---|---|
| 11 | g.20628020_20636733del | CA2580082890 | SLC6A5 | c.1436_1737+314del c.*733_*1034+314del c.734_1035+314del c.560_861+314del c.395_696+314del | ClinVar |
| 11 | g.20628059A= | CA1956619765 | SLC6A5 | c.1475A= (p.Asn492=) c.*772A= (n.*772A=) c.773A= (p.Asn258=) c.599A= (p.Asn200=) c.434A= (p.Asn145=) | |
| 11 | g.20628059A>C | CA379917328 | SLC6A5 | c.1475A>C (p.Asn492Thr) c.*772A>C (n.*772A>C) c.773A>C (p.Asn258Thr) c.599A>C (p.Asn200Thr) c.434A>C (p.Asn145Thr) | |
| 11 | g.20628059A>G | CA379917329 | SLC6A5 | c.1475A>G (p.Asn492Ser) c.*772A>G (n.*772A>G) c.773A>G (p.Asn258Ser) c.599A>G (p.Asn200Ser) c.434A>G (p.Asn145Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.20628059A>T | CA379917330 | SLC6A5 | c.1475A>T (p.Asn492Ile) c.*772A>T (n.*772A>T) c.773A>T (p.Asn258Ile) c.599A>T (p.Asn200Ile) c.434A>T (p.Asn145Ile) | |
| 11 | g.20628060C>A | CA379917331 | SLC6A5 | c.1476C>A (p.Asn492Lys) c.*773C>A (n.*773C>A) c.774C>A (p.Asn258Lys) c.600C>A (p.Asn200Lys) c.435C>A (p.Asn145Lys) | |
| 11 | g.20628060C= | CA1956619766 | SLC6A5 | c.1476C= (p.Asn492=) c.*773C= (n.*773C=) c.774C= (p.Asn258=) c.600C= (p.Asn200=) c.435C= (p.Asn145=) | |
| 11 | g.20628060C>G | CA379917332 | SLC6A5 | c.1476C>G (p.Asn492Lys) c.*773C>G (n.*773C>G) c.774C>G (p.Asn258Lys) c.600C>G (p.Asn200Lys) c.435C>G (p.Asn145Lys) | |
| 11 | g.20628060C>T | CA473404266 | SLC6A5 | c.1476C>T (p.Asn492=) c.*773C>T (n.*773C>T) c.774C>T (p.Asn258=) c.600C>T (p.Asn200=) c.435C>T (p.Asn145=) | dbSNP |
| 11 | g.20628061A= | CA1956619767 | SLC6A5 | c.1477A= (p.Lys493=) c.*774A= (n.*774A=) c.775A= (p.Lys259=) c.601A= (p.Lys201=) c.436A= (p.Lys146=) | |
| 11 | g.20628061A>C | CA379917334 | SLC6A5 | c.1477A>C (p.Lys493Gln) c.*774A>C (n.*774A>C) c.775A>C (p.Lys259Gln) c.601A>C (p.Lys201Gln) c.436A>C (p.Lys146Gln) | |
| 11 | g.20628061A>G | CA5921458 | SLC6A5 | c.1477A>G (p.Lys493Glu) c.*774A>G (n.*774A>G) c.775A>G (p.Lys259Glu) c.601A>G (p.Lys201Glu) c.436A>G (p.Lys146Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.20628061A>T | CA379917333 | SLC6A5 | c.1477A>T (p.Lys493Ter) c.*774A>T (n.*774A>T) c.775A>T (p.Lys259Ter) c.601A>T (p.Lys201Ter) c.436A>T (p.Lys146Ter) | |
| 11 | g.20628062A>C | CA379917335 | SLC6A5 | c.1478A>C (p.Lys493Thr) c.*775A>C (n.*775A>C) c.776A>C (p.Lys259Thr) c.602A>C (p.Lys201Thr) c.437A>C (p.Lys146Thr) | |
| 11 | g.20628062A>G | CA379917336 | SLC6A5 | c.1478A>G (p.Lys493Arg) c.*775A>G (n.*775A>G) c.776A>G (p.Lys259Arg) c.602A>G (p.Lys201Arg) c.437A>G (p.Lys146Arg) | |
| 11 | g.20628062A>T | CA379917337 | SLC6A5 | c.1478A>T (p.Lys493Ile) c.*775A>T (n.*775A>T) c.776A>T (p.Lys259Ile) c.602A>T (p.Lys201Ile) c.437A>T (p.Lys146Ile) | gnomAD v4 |
| 11 | g.20628063A>C | CA379917338 | SLC6A5 | c.1479A>C (p.Lys493Asn) c.*776A>C (n.*776A>C) c.777A>C (p.Lys259Asn) c.603A>C (p.Lys201Asn) c.438A>C (p.Lys146Asn) | |
| 11 | g.20628063A>G | CA473404268 | SLC6A5 | c.1479A>G (p.Lys493=) c.*776A>G (n.*776A>G) c.777A>G (p.Lys259=) c.603A>G (p.Lys201=) c.438A>G (p.Lys146=) | |
| 11 | g.20628063A>T | CA379917339 | SLC6A5 | c.1479A>T (p.Lys493Asn) c.*776A>T (n.*776A>T) c.777A>T (p.Lys259Asn) c.603A>T (p.Lys201Asn) c.438A>T (p.Lys146Asn) | |
| 11 | g.20628064T>A | CA379917340 | SLC6A5 | c.1480T>A (p.Phe494Ile) c.*777T>A (n.*777T>A) c.778T>A (p.Phe260Ile) c.604T>A (p.Phe202Ile) c.439T>A (p.Phe147Ile) | COSMIC |
| 11 | g.20628064T>C | CA379917341 | SLC6A5 | c.1480T>C (p.Phe494Leu) c.*777T>C (n.*777T>C) c.778T>C (p.Phe260Leu) c.604T>C (p.Phe202Leu) c.439T>C (p.Phe147Leu) | |
| 11 | g.20628064T>G | CA379917342 | SLC6A5 | c.1480T>G (p.Phe494Val) c.*777T>G (n.*777T>G) c.778T>G (p.Phe260Val) c.604T>G (p.Phe202Val) c.439T>G (p.Phe147Val) | |
| 11 | g.20628065T>A | CA379917343 | SLC6A5 | c.1481T>A (p.Phe494Tyr) c.*778T>A (n.*778T>A) c.779T>A (p.Phe260Tyr) c.605T>A (p.Phe202Tyr) c.440T>A (p.Phe147Tyr) | |
| 11 | g.20628065T>C | CA379917344 | SLC6A5 | c.1481T>C (p.Phe494Ser) c.*778T>C (n.*778T>C) c.779T>C (p.Phe260Ser) c.605T>C (p.Phe202Ser) c.440T>C (p.Phe147Ser) | |
| 11 | g.20628065T>G | CA379917345 | SLC6A5 | c.1481T>G (p.Phe494Cys) c.*778T>G (n.*778T>G) c.779T>G (p.Phe260Cys) c.605T>G (p.Phe202Cys) c.440T>G (p.Phe147Cys) | dbSNP |
| 11 | g.20628065T= | CA1956619768 | SLC6A5 | c.1481T= (p.Phe494=) c.*778T= (n.*778T=) c.779T= (p.Phe260=) c.605T= (p.Phe202=) c.440T= (p.Phe147=) | |
| 11 | g.20628066C>A | CA379917347 | SLC6A5 | c.1482C>A (p.Phe494Leu) c.*779C>A (n.*779C>A) c.780C>A (p.Phe260Leu) c.606C>A (p.Phe202Leu) c.441C>A (p.Phe147Leu) | |
| 11 | g.20628066C>G | CA379917346 | SLC6A5 | c.1482C>G (p.Phe494Leu) c.*779C>G (n.*779C>G) c.780C>G (p.Phe260Leu) c.606C>G (p.Phe202Leu) c.441C>G (p.Phe147Leu) | |
| 11 | g.20628066C>T | CA473404271 | SLC6A5 | c.1482C>T (p.Phe494=) c.*779C>T (n.*779C>T) c.780C>T (p.Phe260=) c.606C>T (p.Phe202=) c.441C>T (p.Phe147=) | |
| 11 | g.20628067C>A | CA379917348 | SLC6A5 | c.1483C>A (p.His495Asn) c.*780C>A (n.*780C>A) c.781C>A (p.His261Asn) c.607C>A (p.His203Asn) c.442C>A (p.His148Asn) | |
| 11 | g.20628067C>G | CA379917349 | SLC6A5 | c.1483C>G (p.His495Asp) c.*780C>G (n.*780C>G) c.781C>G (p.His261Asp) c.607C>G (p.His203Asp) c.442C>G (p.His148Asp) | |
| 11 | g.20628067C>T | CA379917350 | SLC6A5 | c.1483C>T (p.His495Tyr) c.*780C>T (n.*780C>T) c.781C>T (p.His261Tyr) c.607C>T (p.His203Tyr) c.442C>T (p.His148Tyr) | |
| 11 | g.20628068A= | CA1956619769 | SLC6A5 | c.1484A= (p.His495=) c.*781A= (n.*781A=) c.782A= (p.His261=) c.608A= (p.His203=) c.443A= (p.His148=) | |
| 11 | g.20628068A>C | CA379917351 | SLC6A5 | c.1484A>C (p.His495Pro) c.*781A>C (n.*781A>C) c.782A>C (p.His261Pro) c.608A>C (p.His203Pro) c.443A>C (p.His148Pro) | |
| 11 | g.20628068A>G | CA5921459 | SLC6A5 | c.1484A>G (p.His495Arg) c.*781A>G (n.*781A>G) c.782A>G (p.His261Arg) c.608A>G (p.His203Arg) c.443A>G (p.His148Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.20628068A>T | CA379917352 | SLC6A5 | c.1484A>T (p.His495Leu) c.*781A>T (n.*781A>T) c.782A>T (p.His261Leu) c.608A>T (p.His203Leu) c.443A>T (p.His148Leu) | |
| 11 | g.20628073_20628075del | CA2580615646 | SLC6A5 | c.1489_1491del (p.Asn497del) c.*786_*788del (n.*786_*788del) c.787_789del (p.Asn263del) c.613_615del (p.Asn205del) c.448_450del (p.Asn150del) | ClinVar dbSNP gnomAD v4 |
| 11 | g.20628069C>A | CA379917353 | SLC6A5 | c.1485C>A (p.His495Gln) c.*782C>A (n.*782C>A) c.783C>A (p.His261Gln) c.609C>A (p.His203Gln) c.444C>A (p.His148Gln) | |
| 11 | g.20628069C>G | CA379917354 | SLC6A5 | c.1485C>G (p.His495Gln) c.*782C>G (n.*782C>G) c.783C>G (p.His261Gln) c.609C>G (p.His203Gln) c.444C>G (p.His148Gln) | |
| 11 | g.20628069C>T | CA473404273 | SLC6A5 | c.1485C>T (p.His495=) c.*782C>T (n.*782C>T) c.783C>T (p.His261=) c.609C>T (p.His203=) c.444C>T (p.His148=) | gnomAD v4 |
| 11 | g.20628070A>C | CA379917355 | SLC6A5 | c.1486A>C (p.Asn496His) c.*783A>C (n.*783A>C) c.784A>C (p.Asn262His) c.610A>C (p.Asn204His) c.445A>C (p.Asn149His) | |
| 11 | g.20628070A>G | CA379917356 | SLC6A5 | c.1486A>G (p.Asn496Asp) c.*783A>G (n.*783A>G) c.784A>G (p.Asn262Asp) c.610A>G (p.Asn204Asp) c.445A>G (p.Asn149Asp) | |
| 11 | g.20628070A>T | CA379917357 | SLC6A5 | c.1486A>T (p.Asn496Tyr) c.*783A>T (n.*783A>T) c.784A>T (p.Asn262Tyr) c.610A>T (p.Asn204Tyr) c.445A>T (p.Asn149Tyr) | |
| 11 | g.20628071A= | CA1956619770 | SLC6A5 | c.1487A= (p.Asn496=) c.*784A= (n.*784A=) c.785A= (p.Asn262=) c.611A= (p.Asn204=) c.446A= (p.Asn149=) | |
| 11 | g.20628071A>C | CA379917360 | SLC6A5 | c.1487A>C (p.Asn496Thr) c.*784A>C (n.*784A>C) c.785A>C (p.Asn262Thr) c.611A>C (p.Asn204Thr) c.446A>C (p.Asn149Thr) | |
| 11 | g.20628071A>G | CA379917359 | SLC6A5 | c.1487A>G (p.Asn496Ser) c.*784A>G (n.*784A>G) c.785A>G (p.Asn262Ser) c.611A>G (p.Asn204Ser) c.446A>G (p.Asn149Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.20628071A>T | CA379917358 | SLC6A5 | c.1487A>T (p.Asn496Ile) c.*784A>T (n.*784A>T) c.785A>T (p.Asn262Ile) c.611A>T (p.Asn204Ile) c.446A>T (p.Asn149Ile) | |
| 11 | g.20628072C>A | CA379917361 | SLC6A5 | c.1488C>A (p.Asn496Lys) c.*785C>A (n.*785C>A) c.786C>A (p.Asn262Lys) c.612C>A (p.Asn204Lys) c.447C>A (p.Asn149Lys) | |
| 11 | g.20628072C>G | CA379917362 | SLC6A5 | c.1488C>G (p.Asn496Lys) c.*785C>G (n.*785C>G) c.786C>G (p.Asn262Lys) c.612C>G (p.Asn204Lys) c.447C>G (p.Asn149Lys) | |
| 11 | g.20628072C>T | CA473404275 | SLC6A5 | c.1488C>T (p.Asn496=) c.*785C>T (n.*785C>T) c.786C>T (p.Asn262=) c.612C>T (p.Asn204=) c.447C>T (p.Asn149=) |