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 |
|---|---|---|---|---|---|
| 1 | g.169540947_169541054del | CA2746577665 | F5 | c.4052_4159del (p.Ala1351_Pro1386del) c.4067_4174del (p.Ala1356_Pro1391del) c.3641_3748del (p.Ala1214_Pro1249del) | |
| 1 | g.169540947_169541055delinsCTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAGGTCTAGAGAAAGGGTTGTATGGCTGGGGTCTGGAGAAAGGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTT | CA1206140002 | F5 | c.4035_4143delinsAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCCCAGCCATACAACCCTTTCTCTAGACCTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAG (p.Gln1345=) c.4050_4158delinsAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCCCAGCCATACAACCCTTTCTCTAGACCTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAG (p.Gln1350=) c.3624_3732delinsAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCCCAGCCATACAACCCTTTCTCTAGACCTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAG (p.Gln1208=) | |
| 1 | g.169540982_169541089del | CA1233749 | F5 | c.4035_4142del (p.Thr1346_Gln1381del) c.4050_4157del (p.Thr1351_Gln1386del) c.3624_3731del (p.Thr1209_Gln1244del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169540982_169541090delinsGGTCTAGAGAAAGGGTTGTATGGCTGGGGTCTGGAGAAAGGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTTTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAA | CA1206140016 | F5 | c.4000_4108delinsTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCCCAGCCATACAACCCTTTCTCTAGACC (p.Phe1334=) c.4015_4123delinsTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCCCAGCCATACAACCCTTTCTCTAGACC (p.Phe1339=) c.3589_3697delinsTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCCCAGCCATACAACCCTTTCTCTAGACC (p.Phe1197=) | |
| 1 | g.169541008_169541115del | CA1233755 | F5 | c.4000_4107del (p.Phe1334_Asp1369del) c.4015_4122del (p.Phe1339_Asp1374del) c.3589_3696del (p.Phe1197_Asp1232del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541054_169541055insCTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAGGTCTAGAGAAAGAGTTGTATGGCTGGGGTCTGGAGAAAGGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGT | CA1008977749 | F5 | c.4094_4095insTCTTTCTCTAGACCTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCCCAGCCATACAAC (p.Thr1365_Leu1366insLeuSerLeuAspLeuSerGlnThrAsnLeuSerProGluLeuSerGlnThrAsnLeuSerProAlaLeuGlyGlnMetProLeuSerProAspProSerHisThrThr) c.4109_4110insTCTTTCTCTAGACCTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCCCAGCCATACAAC (p.Thr1370_Leu1371insLeuSerLeuAspLeuSerGlnThrAsnLeuSerProGluLeuSerGlnThrAsnLeuSerProAlaLeuGlyGlnMetProLeuSerProAspProSerHisThrThr) c.3683_3684insTCTTTCTCTAGACCTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCCCAGCCATACAAC (p.Thr1228_Leu1229insLeuSerLeuAspLeuSerGlnThrAsnLeuSerProGluLeuSerGlnThrAsnLeuSerProAlaLeuGlyGlnMetProLeuSerProAspProSerHisThrThr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541008_169541116delinsGGGTCTGGAGAAAGGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTTTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGA | CA1206140029 | F5 | c.3974_4082delinsTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCC (p.Leu1325=) c.3989_4097delinsTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCC (p.Leu1330=) c.3563_3671delinsTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCC (p.Leu1188=) | |
| 1 | g.169541021_169541128del | CA1008977761 | F5 | c.3974_4081del (p.Leu1325_Asp1360del) c.3989_4096del (p.Leu1330_Asp1365del) c.3563_3670del (p.Leu1188_Asp1223del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541016A>C | CA421930073 | F5 | c.4074T>G (p.Ser1358=) c.4089T>G (p.Ser1363=) c.3663T>G (p.Ser1221=) | |
| 1 | g.169541016A>G | CA421930077 | F5 | c.4074T>C (p.Ser1358=) c.4089T>C (p.Ser1363=) c.3663T>C (p.Ser1221=) | |
| 1 | g.169541016A>T | CA421930075 | F5 | c.4074T>A (p.Ser1358=) c.4089T>A (p.Ser1363=) c.3663T>A (p.Ser1221=) | |
| 1 | g.169541017G>A | CA343145758 | F5 | c.4073C>T (p.Ser1358Phe) c.4088C>T (p.Ser1363Phe) c.3662C>T (p.Ser1221Phe) | |
| 1 | g.169541017G>C | CA343145760 | F5 | c.4073C>G (p.Ser1358Cys) c.4088C>G (p.Ser1363Cys) c.3662C>G (p.Ser1221Cys) | |
| 1 | g.169541017G= | CA1206140033 | F5 | c.4073C= (p.Ser1358=) c.4088C= (p.Ser1363=) c.3662C= (p.Ser1221=) | |
| 1 | g.169541017G>T | CA343145769 | F5 | c.4073C>A (p.Ser1358Tyr) c.4088C>A (p.Ser1363Tyr) c.3662C>A (p.Ser1221Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541018A>C | CA343145770 | F5 | c.4072T>G (p.Ser1358Ala) c.4087T>G (p.Ser1363Ala) c.3661T>G (p.Ser1221Ala) | |
| 1 | g.169541018A>G | CA343145771 | F5 | c.4072T>C (p.Ser1358Pro) c.4087T>C (p.Ser1363Pro) c.3661T>C (p.Ser1221Pro) | ClinVar gnomAD v4 |
| 1 | g.169541018A>T | CA343145772 | F5 | c.4072T>A (p.Ser1358Thr) c.4087T>A (p.Ser1363Thr) c.3661T>A (p.Ser1221Thr) | |
| 1 | g.169541019A>C | CA421930088 | F5 | c.4071T>G (p.Leu1357=) c.4086T>G (p.Leu1362=) c.3660T>G (p.Leu1220=) | |
| 1 | g.169541019A>G | CA421930089 | F5 | c.4071T>C (p.Leu1357=) c.4086T>C (p.Leu1362=) c.3660T>C (p.Leu1220=) | gnomAD v3 gnomAD v4 |
| 1 | g.169541019A>T | CA421930090 | F5 | c.4071T>A (p.Leu1357=) c.4086T>A (p.Leu1362=) c.3660T>A (p.Leu1220=) | |
| 1 | g.169541020A>C | CA343145780 | F5 | c.4070T>G (p.Leu1357Arg) c.4085T>G (p.Leu1362Arg) c.3659T>G (p.Leu1220Arg) | |
| 1 | g.169541020A>G | CA343145776 | F5 | c.4070T>C (p.Leu1357Pro) c.4085T>C (p.Leu1362Pro) c.3659T>C (p.Leu1220Pro) | |
| 1 | g.169541020A>T | CA343145778 | F5 | c.4070T>A (p.Leu1357His) c.4085T>A (p.Leu1362His) c.3659T>A (p.Leu1220His) | |
| 1 | g.169541021G>A | CA343145781 | F5 | c.4069C>T (p.Leu1357Phe) c.4084C>T (p.Leu1362Phe) c.3658C>T (p.Leu1220Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541021G>C | CA343145782 | F5 | c.4069C>G (p.Leu1357Val) c.4084C>G (p.Leu1362Val) c.3658C>G (p.Leu1220Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541021G= | CA1206140035 | F5 | c.4069C= (p.Leu1357=) c.4084C= (p.Leu1362=) c.3658C= (p.Leu1220=) | |
| 1 | g.169541021G>T | CA343145783 | F5 | c.4069C>A (p.Leu1357Ile) c.4084C>A (p.Leu1362Ile) c.3658C>A (p.Leu1220Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.169541021_169541129delinsGGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTTTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGAGGTCTGGAGAAAT | CA1206140034 | F5 | c.3961_4069delinsATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCC (p.Ile1321=) c.3976_4084delinsATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCC (p.Ile1326=) c.3550_3658delinsATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCC (p.Ile1184=) | |
| 1 | g.169541022G>A | CA1233765 | F5 | c.4068C>T (p.Pro1356=) c.4083C>T (p.Pro1361=) c.3657C>T (p.Pro1219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541022G>C | CA421930099 | F5 | c.4068C>G (p.Pro1356=) c.4083C>G (p.Pro1361=) c.3657C>G (p.Pro1219=) | |
| 1 | g.169541022G= | CA1206140036 | F5 | c.4068C= (p.Pro1356=) c.4083C= (p.Pro1361=) c.3657C= (p.Pro1219=) | |
| 1 | g.169541022G>T | CA421930103 | F5 | c.4068C>A (p.Pro1356=) c.4083C>A (p.Pro1361=) c.3657C>A (p.Pro1219=) | |
| 1 | g.169541055_169541162del | CA1233764 | F5 | c.3961_4068del (p.Ile1321_Pro1356del) c.3976_4083del (p.Ile1326_Pro1361del) c.3550_3657del (p.Ile1184_Pro1219del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.169541023G>A | CA343145790 | F5 | c.4067C>T (p.Pro1356Leu) c.4082C>T (p.Pro1361Leu) c.3656C>T (p.Pro1219Leu) | dbSNP |
| 1 | g.169541023G>C | CA343145792 | F5 | c.4067C>G (p.Pro1356Arg) c.4082C>G (p.Pro1361Arg) c.3656C>G (p.Pro1219Arg) | |
| 1 | g.169541023G= | CA1206140037 | F5 | c.4067C= (p.Pro1356=) c.4082C= (p.Pro1361=) c.3656C= (p.Pro1219=) | |
| 1 | g.169541023G>T | CA343145794 | F5 | c.4067C>A (p.Pro1356His) c.4082C>A (p.Pro1361His) c.3656C>A (p.Pro1219His) | |
| 1 | g.169541024G>A | CA343145798 | F5 | c.4066C>T (p.Pro1356Ser) c.4081C>T (p.Pro1361Ser) c.3655C>T (p.Pro1219Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541024G>C | CA343145800 | F5 | c.4066C>G (p.Pro1356Ala) c.4081C>G (p.Pro1361Ala) c.3655C>G (p.Pro1219Ala) | gnomAD v4 |
| 1 | g.169541024G= | CA1206140039 | F5 | c.4066C= (p.Pro1356=) c.4081C= (p.Pro1361=) c.3655C= (p.Pro1219=) | |
| 1 | g.169541024G>T | CA343145802 | F5 | c.4066C>A (p.Pro1356Thr) c.4081C>A (p.Pro1361Thr) c.3655C>A (p.Pro1219Thr) | |
| 1 | g.169541024_169541025delinsGC | CA1206140038 | F5 | c.4065_4066delinsGC (p.Met1355=) c.4080_4081delinsGC (p.Met1360=) c.3654_3655delinsGC (p.Met1218=) | |
| 1 | g.169541025del | CA1206140040 | F5 | c.4065del (p.Met1355IlefsTer14) c.4080del (p.Met1360IlefsTer14) c.3654del (p.Met1218IlefsTer14) | dbSNP |
| 1 | g.169541025C>A | CA343145808 | F5 | c.4065G>T (p.Met1355Ile) c.4080G>T (p.Met1360Ile) c.3654G>T (p.Met1218Ile) | |
| 1 | g.169541025C= | CA1206140041 | F5 | c.4065G= (p.Met1355=) c.4080G= (p.Met1360=) c.3654G= (p.Met1218=) | |
| 1 | g.169541025C>G | CA343145807 | F5 | c.4065G>C (p.Met1355Ile) c.4080G>C (p.Met1360Ile) c.3654G>C (p.Met1218Ile) | |
| 1 | g.169541025C>T | CA343145805 | F5 | c.4065G>A (p.Met1355Ile) c.4080G>A (p.Met1360Ile) c.3654G>A (p.Met1218Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.169541026A= | CA1143434145 | F5 | c.4064T= (p.Met1355=) c.4079T= (p.Met1360=) c.3653T= (p.Met1218=) | |
| 1 | g.169541026A>C | CA343145812 | F5 | c.4064T>G (p.Met1355Arg) c.4079T>G (p.Met1360Arg) c.3653T>G (p.Met1218Arg) |