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 |
|---|---|---|---|---|---|
| 3 | g.128481765_128481836del | CA2580068704 | GATA2 | c.1126_1143+54del c.1408_1425+54del c.109_126+54del c.1084_1101+54del n.243_260+54del | ClinVar |
| 3 | g.128481827_128481853dup | CA2667540511 | GATA2 | c.1109_1135dup (p.Lys378_Leu379insArgAsnAlaCysGlyLeuTyrTyrLys) c.1391_1417dup (p.Lys472_Leu473insArgAsnAlaCysGlyLeuTyrTyrLys) c.92_118dup (p.Lys39_Leu40insArgAsnAlaCysGlyLeuTyrTyrLys) c.1067_1093dup (p.Lys364_Leu365insArgAsnAlaCysGlyLeuTyrTyrLys) n.226_252dup | gnomAD v4 |
| 3 | g.128481829_128481836dup | CA1139771361 | GATA2 | c.1126_1133dup (p.Lys378AsnfsTer12) c.1408_1415dup (p.Lys472AsnfsTer12) c.109_116dup (p.Lys39AsnfsTer?) c.1084_1091dup (p.Lys364AsnfsTer12) n.243_250dup | ClinVar dbSNP |
| 3 | g.128481835_128481837del | CA2577890722 | GATA2 | c.1129_1131del (p.Tyr377del) c.1411_1413del (p.Tyr471del) c.112_114del (p.Tyr38del) c.1087_1089del (p.Tyr363del) n.246_248del | |
| 3 | g.128481832_128481846del | CA2499216429 | GATA2 | c.1117_1131del (p.Cys373_Tyr377del) c.1399_1413del (p.Cys467_Tyr471del) c.100_114del (p.Cys34_Tyr38del) c.1075_1089del (p.Cys359_Tyr363del) n.234_248del | ClinVar dbSNP |
| 3 | g.128481835T>A | CA354413482 | GATA2 | c.1127A>T (p.Tyr376Phe) c.1409A>T (p.Tyr470Phe) c.110A>T (p.Tyr37Phe) c.1085A>T (p.Tyr362Phe) n.244A>T | |
| 3 | g.128481835T>C | CA354413483 | GATA2 | c.1127A>G (p.Tyr376Cys) c.1409A>G (p.Tyr470Cys) c.110A>G (p.Tyr37Cys) c.1085A>G (p.Tyr362Cys) n.244A>G | |
| 3 | g.128481835T>G | CA354413484 | GATA2 | c.1127A>C (p.Tyr376Ser) c.1409A>C (p.Tyr470Ser) c.110A>C (p.Tyr37Ser) c.1085A>C (p.Tyr362Ser) n.244A>C | |
| 3 | g.128481836A= | CA1400715048 | GATA2 | c.1126T= (p.Tyr376=) c.1408T= (p.Tyr470=) c.109T= (p.Tyr37=) c.1084T= (p.Tyr362=) n.243T= | |
| 3 | g.128481836A>C | CA354413485 | GATA2 | c.1126T>G (p.Tyr376Asp) c.1408T>G (p.Tyr470Asp) c.109T>G (p.Tyr37Asp) c.1084T>G (p.Tyr362Asp) n.243T>G | |
| 3 | g.128481836A>G | CA354413486 | GATA2 | c.1126T>C (p.Tyr376His) c.1408T>C (p.Tyr470His) c.109T>C (p.Tyr37His) c.1084T>C (p.Tyr362His) n.243T>C | |
| 3 | g.128481836A>T | CA354413487 | GATA2 | c.1126T>A (p.Tyr376Asn) c.1408T>A (p.Tyr470Asn) c.109T>A (p.Tyr37Asn) c.1084T>A (p.Tyr362Asn) n.243T>A | |
| 3 | g.128481837G>A | CA435525524 | GATA2 | c.1125C>T (p.Leu375=) c.1407C>T (p.Leu469=) c.108C>T (p.Leu36=) c.1083C>T (p.Leu361=) n.242C>T | COSMIC |
| 3 | g.128481837G>C | CA435525525 | GATA2 | c.1125C>G (p.Leu375=) c.1407C>G (p.Leu469=) c.108C>G (p.Leu36=) c.1083C>G (p.Leu361=) n.242C>G | ClinVar |
| 3 | g.128481837G>T | CA435525526 | GATA2 | c.1125C>A (p.Leu375=) c.1407C>A (p.Leu469=) c.108C>A (p.Leu36=) c.1083C>A (p.Leu361=) n.242C>A | |
| 3 | g.128481837_128481840dup | CA279032 | GATA2 | c.1122_1125dup (p.Tyr376ProfsTer9) c.1404_1407dup (p.Tyr470ProfsTer9) c.105_108dup (p.Tyr37ProfsTer10) c.1080_1083dup (p.Tyr362ProfsTer9) n.239_242dup | ClinVar dbSNP |
| 3 | g.128481838del | CA2499216430 | GATA2 | c.1124del (p.Leu375ProfsTer12) c.1406del (p.Leu469ProfsTer12) c.107del (p.Leu36ProfsTer?) c.1082del (p.Leu361ProfsTer12) n.241del | ClinVar dbSNP |
| 3 | g.128481838A>C | CA354413488 | GATA2 | c.1124T>G (p.Leu375Arg) c.1406T>G (p.Leu469Arg) c.107T>G (p.Leu36Arg) c.1082T>G (p.Leu361Arg) n.241T>G | |
| 3 | g.128481838A>G | CA354413489 | GATA2 | c.1124T>C (p.Leu375Pro) c.1406T>C (p.Leu469Pro) c.107T>C (p.Leu36Pro) c.1082T>C (p.Leu361Pro) n.241T>C | |
| 3 | g.128481838A>T | CA354413490 | GATA2 | c.1124T>A (p.Leu375His) c.1406T>A (p.Leu469His) c.107T>A (p.Leu36His) c.1082T>A (p.Leu361His) n.241T>A | |
| 3 | g.128481839G>A | CA354413491 | GATA2 | c.1123C>T (p.Leu375Phe) c.1405C>T (p.Leu469Phe) c.106C>T (p.Leu36Phe) c.1081C>T (p.Leu361Phe) n.240C>T | ClinVar dbSNP |
| 3 | g.128481839G>C | CA354413492 | GATA2 | c.1123C>G (p.Leu375Val) c.1405C>G (p.Leu469Val) c.106C>G (p.Leu36Val) c.1081C>G (p.Leu361Val) n.240C>G | ClinVar dbSNP |
| 3 | g.128481839G>T | CA354413493 | GATA2 | c.1123C>A (p.Leu375Ile) c.1405C>A (p.Leu469Ile) c.106C>A (p.Leu36Ile) c.1081C>A (p.Leu361Ile) n.240C>A | COSMIC |
| 3 | g.128481840G>A | CA83376533 | GATA2 | c.1122C>T (p.Gly374=) c.1404C>T (p.Gly468=) c.105C>T (p.Gly35=) c.1080C>T (p.Gly360=) n.239C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481840G>C | CA435525529 | GATA2 | c.1122C>G (p.Gly374=) c.1404C>G (p.Gly468=) c.105C>G (p.Gly35=) c.1080C>G (p.Gly360=) n.239C>G | |
| 3 | g.128481840G= | CA1400715056 | GATA2 | c.1122C= (p.Gly374=) c.1404C= (p.Gly468=) c.105C= (p.Gly35=) c.1080C= (p.Gly360=) n.239C= | |
| 3 | g.128481840G>T | CA435525530 | GATA2 | c.1122C>A (p.Gly374=) c.1404C>A (p.Gly468=) c.105C>A (p.Gly35=) c.1080C>A (p.Gly360=) n.239C>A | |
| 3 | g.128481841C>A | CA354413494 | GATA2 | c.1121G>T (p.Gly374Val) c.1403G>T (p.Gly468Val) c.104G>T (p.Gly35Val) c.1079G>T (p.Gly360Val) n.238G>T | |
| 3 | g.128481841C= | CA1400715060 | GATA2 | c.1121G= (p.Gly374=) c.1403G= (p.Gly468=) c.104G= (p.Gly35=) c.1079G= (p.Gly360=) n.238G= | |
| 3 | g.128481841C>G | CA354413495 | GATA2 | c.1121G>C (p.Gly374Ala) c.1403G>C (p.Gly468Ala) c.104G>C (p.Gly35Ala) c.1079G>C (p.Gly360Ala) n.238G>C | |
| 3 | g.128481841C>T | CA354413496 | GATA2 | c.1121G>A (p.Gly374Asp) c.1403G>A (p.Gly468Asp) c.104G>A (p.Gly35Asp) c.1079G>A (p.Gly360Asp) n.238G>A | ClinVar dbSNP |
| 3 | g.128481842C>A | CA354413497 | GATA2 | c.1120G>T (p.Gly374Cys) c.1402G>T (p.Gly468Cys) c.103G>T (p.Gly35Cys) c.1078G>T (p.Gly360Cys) n.237G>T | |
| 3 | g.128481842C>G | CA354413498 | GATA2 | c.1120G>C (p.Gly374Arg) c.1402G>C (p.Gly468Arg) c.103G>C (p.Gly35Arg) c.1078G>C (p.Gly360Arg) n.237G>C | |
| 3 | g.128481842C>T | CA354413499 | GATA2 | c.1120G>A (p.Gly374Ser) c.1402G>A (p.Gly468Ser) c.103G>A (p.Gly35Ser) c.1078G>A (p.Gly360Ser) n.237G>A | |
| 3 | g.128481843A= | CA1400715062 | GATA2 | c.1119T= (p.Cys373=) c.1401T= (p.Cys467=) c.102T= (p.Cys34=) c.1077T= (p.Cys359=) n.236T= | |
| 3 | g.128481843A>C | CA354413500 | GATA2 | c.1119T>G (p.Cys373Trp) c.1401T>G (p.Cys467Trp) c.102T>G (p.Cys34Trp) c.1077T>G (p.Cys359Trp) n.236T>G | |
| 3 | g.128481843A>G | CA435525531 | GATA2 | c.1119T>C (p.Cys373=) c.1401T>C (p.Cys467=) c.102T>C (p.Cys34=) c.1077T>C (p.Cys359=) n.236T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481843A>T | CA354413501 | GATA2 | c.1119T>A (p.Cys373Ter) c.1401T>A (p.Cys467Ter) c.102T>A (p.Cys34Ter) c.1077T>A (p.Cys359Ter) n.236T>A | |
| 3 | g.128481843dup | CA2759522112 | GATA2 | c.1119dup (p.Gly374TrpfsTer10) c.1401dup (p.Gly468TrpfsTer10) c.102dup (p.Gly35TrpfsTer11) c.1077dup (p.Gly360TrpfsTer10) n.236dup | |
| 3 | g.128481843_128481845delinsCCC | CA2586965857 | GATA2 | c.1117_1119delinsGGG (p.Cys373Gly) c.1399_1401delinsGGG (p.Cys467Gly) c.100_102delinsGGG (p.Cys34Gly) c.1075_1077delinsGGG (p.Cys359Gly) n.234_236delinsGGG | |
| 3 | g.128481844C>A | CA354413503 | GATA2 | c.1118G>T (p.Cys373Phe) c.1400G>T (p.Cys467Phe) c.101G>T (p.Cys34Phe) c.1076G>T (p.Cys359Phe) n.235G>T | |
| 3 | g.128481844C>G | CA354413504 | GATA2 | c.1118G>C (p.Cys373Ser) c.1400G>C (p.Cys467Ser) c.101G>C (p.Cys34Ser) c.1076G>C (p.Cys359Ser) n.235G>C | |
| 3 | g.128481844C>T | CA354413502 | GATA2 | c.1118G>A (p.Cys373Tyr) c.1400G>A (p.Cys467Tyr) c.101G>A (p.Cys34Tyr) c.1076G>A (p.Cys359Tyr) n.235G>A | ClinVar dbSNP |
| 3 | g.128481844dup | CA2759522111 | GATA2 | c.1118dup (p.Cys373TrpfsTer11) c.1400dup (p.Cys467TrpfsTer11) c.101dup (p.Cys34TrpfsTer12) c.1076dup (p.Cys359TrpfsTer11) n.235dup | |
| 3 | g.128481845A= | CA1400715068 | GATA2 | c.1117T= (p.Cys373=) c.1399T= (p.Cys467=) c.100T= (p.Cys34=) c.1075T= (p.Cys359=) n.234T= | |
| 3 | g.128481845A>C | CA354413505 | GATA2 | c.1117T>G (p.Cys373Gly) c.1399T>G (p.Cys467Gly) c.100T>G (p.Cys34Gly) c.1075T>G (p.Cys359Gly) n.234T>G | |
| 3 | g.128481845A>G | CA128589 | GATA2 | c.1117T>C (p.Cys373Arg) c.1399T>C (p.Cys467Arg) c.100T>C (p.Cys34Arg) c.1075T>C (p.Cys359Arg) n.234T>C | ClinVar dbSNP |
| 3 | g.128481845A>T | CA354413506 | GATA2 | c.1117T>A (p.Cys373Ser) c.1399T>A (p.Cys467Ser) c.100T>A (p.Cys34Ser) c.1075T>A (p.Cys359Ser) n.234T>A | |
| 3 | g.128481845dup | CA2759522110 | GATA2 | c.1117dup (p.Cys373LeufsTer11) c.1399dup (p.Cys467LeufsTer11) c.100dup (p.Cys34LeufsTer12) c.1075dup (p.Cys359LeufsTer11) n.234dup | |
| 3 | g.128481845_128482000delinsGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT | CA2695239087 | GATA2 | c.1018-56_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC c.1300-56_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC c.1018-98_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC n.79_234delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC |