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.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.169541021_169541129delinsGGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTTTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGAGGTCTGGAGAAAT | CA1206140034 | F5 | c.3961_4069delinsATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCC (p.Ile1321=) c.3976_4084delinsATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCC (p.Ile1326=) c.3550_3658delinsATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAAACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCC (p.Ile1184=) | |
| 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.169541036_169541142del | CA2649034377 | F5 | c.3948_4054del (p.Gly1317ArgfsTer?) c.3963_4069del (p.Gly1322ArgfsTer?) c.3537_3643del (p.Gly1180ArgfsTer?) | gnomAD v4 |
| 1 | g.169541055_169541163delinsTTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGAGGTCTGGAGAAATGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTC | CA1206140055 | F5 | c.3927_4035delinsGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAA (p.Gln1309=) c.3942_4050delinsGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAA (p.Gln1314=) c.3516_3624delinsGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAA (p.Gln1172=) | |
| 1 | g.169541055_169541298delinsTTGACTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGAGGTCTGGAGAAATGGGCATCTGACCGAGGGCTGGGGAAAGGTTTGTCTGACTGAGTTCTGGAGAGAGAGTCATATGGCTGAGTTCTGGAGAGAGGTTTGTCTGGCTGAAGTCTAGAGAAAGGGTTGTATGGCTGAGGTCTGGAGAAAGGGGCATCTGACCGAGGGCTGGAGAAAGGTTTGTC | CA1206140054 | F5 | c.3792_4035delinsGACAAACCTTTCTCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGCCATATGACTCTCTCTCCAGAACTCAGTCAGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAA (p.Gln1264=) c.3807_4050delinsGACAAACCTTTCTCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGCCATATGACTCTCTCTCCAGAACTCAGTCAGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAA (p.Gln1269=) c.3381_3624delinsGACAAACCTTTCTCCAGCCCTCGGTCAGATGCCCCTTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGCCATATGACTCTCTCTCCAGAACTCAGTCAGACAAACCTTTCCCCAGCCCTCGGTCAGATGCCCATTTCTCCAGACCTCAGCCATACAACCCTTTCTCTAGACTTCAGCCAGACAAACCTCTCTCCAGAACTCAGTCAA (p.Gln1127=) | |
| 1 | g.169541076_169541183del | CA1008977807 | F5 | c.3927_4034del (p.Thr1310_Gln1345del) c.3942_4049del (p.Thr1315_Gln1350del) c.3516_3623del (p.Thr1173_Gln1208del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541090_169541332del | CA1008977809 | F5 | c.3792_4034del (p.Thr1265_Gln1345del) c.3807_4049del (p.Thr1270_Gln1350del) c.3381_3623del (p.Thr1128_Gln1208del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541129_169541263del | CA1008977818 | F5 | c.3897_4031del (p.His1300_Ser1344del) c.3912_4046del (p.His1305_Ser1349del) c.3486_3620del (p.His1163_Ser1207del) | gnomAD v3 gnomAD v4 |
| 1 | g.169541116A= | CA1206140083 | F5 | c.3974T= (p.Leu1325=) c.3989T= (p.Leu1330=) c.3563T= (p.Leu1188=) | |
| 1 | g.169541116A>C | CA343146247 | F5 | c.3974T>G (p.Leu1325Arg) c.3989T>G (p.Leu1330Arg) c.3563T>G (p.Leu1188Arg) | |
| 1 | g.169541116A>G | CA32440113 | F5 | c.3974T>C (p.Leu1325Pro) c.3989T>C (p.Leu1330Pro) c.3563T>C (p.Leu1188Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.169541116A>T | CA343146250 | F5 | c.3974T>A (p.Leu1325His) c.3989T>A (p.Leu1330His) c.3563T>A (p.Leu1188His) | |
| 1 | g.169541117G>A | CA1233781 | F5 | c.3973C>T (p.Leu1325Phe) c.3988C>T (p.Leu1330Phe) c.3562C>T (p.Leu1188Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.169541117G>C | CA343146255 | F5 | c.3973C>G (p.Leu1325Val) c.3988C>G (p.Leu1330Val) c.3562C>G (p.Leu1188Val) | |
| 1 | g.169541117G= | CA1206140084 | F5 | c.3973C= (p.Leu1325=) c.3988C= (p.Leu1330=) c.3562C= (p.Leu1188=) | |
| 1 | g.169541117G>T | CA343146257 | F5 | c.3973C>A (p.Leu1325Ile) c.3988C>A (p.Leu1330Ile) c.3562C>A (p.Leu1188Ile) | |
| 1 | g.169541118G>A | CA421930337 | F5 | c.3972C>T (p.Asp1324=) c.3987C>T (p.Asp1329=) c.3561C>T (p.Asp1187=) | dbSNP |
| 1 | g.169541118G>C | CA343146258 | F5 | c.3972C>G (p.Asp1324Glu) c.3987C>G (p.Asp1329Glu) c.3561C>G (p.Asp1187Glu) | |
| 1 | g.169541118G>T | CA343146259 | F5 | c.3972C>A (p.Asp1324Glu) c.3987C>A (p.Asp1329Glu) c.3561C>A (p.Asp1187Glu) | |
| 1 | g.169541119T>A | CA343146265 | F5 | c.3971A>T (p.Asp1324Val) c.3986A>T (p.Asp1329Val) c.3560A>T (p.Asp1187Val) | |
| 1 | g.169541119T>C | CA343146263 | F5 | c.3971A>G (p.Asp1324Gly) c.3986A>G (p.Asp1329Gly) c.3560A>G (p.Asp1187Gly) | |
| 1 | g.169541119T>G | CA343146261 | F5 | c.3971A>C (p.Asp1324Ala) c.3986A>C (p.Asp1329Ala) c.3560A>C (p.Asp1187Ala) | dbSNP |
| 1 | g.169541119T= | CA1206140085 | F5 | c.3971A= (p.Asp1324=) c.3986A= (p.Asp1329=) c.3560A= (p.Asp1187=) | |
| 1 | g.169541120C>A | CA343146268 | F5 | c.3970G>T (p.Asp1324Tyr) c.3985G>T (p.Asp1329Tyr) c.3559G>T (p.Asp1187Tyr) | ClinVar |
| 1 | g.169541120C>G | CA343146273 | F5 | c.3970G>C (p.Asp1324His) c.3985G>C (p.Asp1329His) c.3559G>C (p.Asp1187His) | |
| 1 | g.169541120C>T | CA343146270 | F5 | c.3970G>A (p.Asp1324Asn) c.3985G>A (p.Asp1329Asn) c.3559G>A (p.Asp1187Asn) | |
| 1 | g.169541121T>A | CA421930022 | F5 | c.3969A>T (p.Pro1323=) c.3984A>T (p.Pro1328=) c.3558A>T (p.Pro1186=) | dbSNP |
| 1 | g.169541121T>C | CA421930024 | F5 | c.3969A>G (p.Pro1323=) c.3984A>G (p.Pro1328=) c.3558A>G (p.Pro1186=) | |
| 1 | g.169541121T>G | CA421930025 | F5 | c.3969A>C (p.Pro1323=) c.3984A>C (p.Pro1328=) c.3558A>C (p.Pro1186=) | |
| 1 | g.169541122G>A | CA1233782 | F5 | c.3968C>T (p.Pro1323Leu) c.3983C>T (p.Pro1328Leu) c.3557C>T (p.Pro1186Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.169541122G>C | CA343146278 | F5 | c.3968C>G (p.Pro1323Arg) c.3983C>G (p.Pro1328Arg) c.3557C>G (p.Pro1186Arg) | |
| 1 | g.169541122G= | CA1143196952 | F5 | c.3968C= (p.Pro1323=) c.3983C= (p.Pro1328=) c.3557C= (p.Pro1186=) | |
| 1 | g.169541122G>T | CA343146280 | F5 | c.3968C>A (p.Pro1323Gln) c.3983C>A (p.Pro1328Gln) c.3557C>A (p.Pro1186Gln) | |
| 1 | g.169541123G>A | CA343146281 | F5 | c.3967C>T (p.Pro1323Ser) c.3982C>T (p.Pro1328Ser) c.3556C>T (p.Pro1186Ser) | |
| 1 | g.169541123G>C | CA343146282 | F5 | c.3967C>G (p.Pro1323Ala) c.3982C>G (p.Pro1328Ala) c.3556C>G (p.Pro1186Ala) | |
| 1 | g.169541123G>T | CA343146284 | F5 | c.3967C>A (p.Pro1323Thr) c.3982C>A (p.Pro1328Thr) c.3556C>A (p.Pro1186Thr) | |
| 1 | g.169541124A= | CA1206140086 | F5 | c.3966T= (p.Ser1322=) c.3981T= (p.Ser1327=) c.3555T= (p.Ser1185=) | |
| 1 | g.169541124A>C | CA421930026 | F5 | c.3966T>G (p.Ser1322=) c.3981T>G (p.Ser1327=) c.3555T>G (p.Ser1185=) | |
| 1 | g.169541124A>G | CA421930028 | F5 | c.3966T>C (p.Ser1322=) c.3981T>C (p.Ser1327=) c.3555T>C (p.Ser1185=) | dbSNP |
| 1 | g.169541124A>T | CA32440126 | F5 | c.3966T>A (p.Ser1322=) c.3981T>A (p.Ser1327=) c.3555T>A (p.Ser1185=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.169541125G>A | CA343146288 | F5 | c.3965C>T (p.Ser1322Phe) c.3980C>T (p.Ser1327Phe) c.3554C>T (p.Ser1185Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.169541125G>C | CA343146290 | F5 | c.3965C>G (p.Ser1322Cys) c.3980C>G (p.Ser1327Cys) c.3554C>G (p.Ser1185Cys) | |
| 1 | g.169541125G= | CA1206140087 | F5 | c.3965C= (p.Ser1322=) c.3980C= (p.Ser1327=) c.3554C= (p.Ser1185=) | |
| 1 | g.169541125G>T | CA1233783 | F5 | c.3965C>A (p.Ser1322Tyr) c.3980C>A (p.Ser1327Tyr) c.3554C>A (p.Ser1185Tyr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.169541126A>C | CA343146294 | F5 | c.3964T>G (p.Ser1322Ala) c.3979T>G (p.Ser1327Ala) c.3553T>G (p.Ser1185Ala) | |
| 1 | g.169541126A>G | CA343146295 | F5 | c.3964T>C (p.Ser1322Pro) c.3979T>C (p.Ser1327Pro) c.3553T>C (p.Ser1185Pro) | dbSNP |
| 1 | g.169541126A>T | CA343146298 | F5 | c.3964T>A (p.Ser1322Thr) c.3979T>A (p.Ser1327Thr) c.3553T>A (p.Ser1185Thr) | |
| 1 | g.169541127A= | CA1206140088 | F5 | c.3963T= (p.Ile1321=) c.3978T= (p.Ile1326=) c.3552T= (p.Ile1184=) |