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.121190788_121190806del | CA2527994285 | TBCEL-TECTA,TECTA | c.6450_6468del (p.Lys2150AsnfsTer2) c.6435_6453del (p.Lys2145AsnfsTer2) c.3970_3988del n.2830_2848del c.6450_6468del (p.Lys2150=) c.7392_7410del (p.Lys2464AsnfsTer2) | |
| 11 | g.121190796C>A | CA383010948 | TBCEL-TECTA,TECTA | c.6458C>A (p.Thr2153Lys) c.6443C>A (p.Thr2148Lys) c.3978C>A n.2838C>A c.7400C>A (p.Thr2467Lys) | |
| 11 | g.121190796C= | CA2004740469 | TBCEL-TECTA,TECTA | c.6458C= (p.Thr2153=) c.6443C= (p.Thr2148=) c.3978C= n.2838C= c.7400C= (p.Thr2467=) | |
| 11 | g.121190796C>G | CA383010950 | TBCEL-TECTA,TECTA | c.6458C>G (p.Thr2153Arg) c.6443C>G (p.Thr2148Arg) c.3978C>G n.2838C>G c.7400C>G (p.Thr2467Arg) | |
| 11 | g.121190796C>T | CA6327994 | TBCEL-TECTA,TECTA | c.6458C>T (p.Thr2153Met) c.6443C>T (p.Thr2148Met) c.3978C>T n.2838C>T c.7400C>T (p.Thr2467Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121190797G>A | CA6327995 | TBCEL-TECTA,TECTA | c.6459G>A (p.Thr2153=) c.6444G>A (p.Thr2148=) c.3979G>A n.2839G>A c.7401G>A (p.Thr2467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121190797G>C | CA477210088 | TBCEL-TECTA,TECTA | c.6459G>C (p.Thr2153=) c.6444G>C (p.Thr2148=) c.3979G>C n.2839G>C c.7401G>C (p.Thr2467=) | |
| 11 | g.121190797G= | CA2004740473 | TBCEL-TECTA,TECTA | c.6459G= (p.Thr2153=) c.6444G= (p.Thr2148=) c.3979G= n.2839G= c.7401G= (p.Thr2467=) | |
| 11 | g.121190797G>T | CA477210089 | TBCEL-TECTA,TECTA | c.6459G>T (p.Thr2153=) c.6444G>T (p.Thr2148=) c.3979G>T n.2839G>T c.7401G>T (p.Thr2467=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121190798A>C | CA383010957 | TBCEL-TECTA,TECTA | c.6460A>C (p.Thr2154Pro) c.6445A>C (p.Thr2149Pro) c.3980A>C n.2840A>C c.7402A>C (p.Thr2468Pro) | |
| 11 | g.121190798A>G | CA383010959 | TBCEL-TECTA,TECTA | c.6460A>G (p.Thr2154Ala) c.6445A>G (p.Thr2149Ala) c.3980A>G n.2840A>G c.7402A>G (p.Thr2468Ala) | |
| 11 | g.121190798A>T | CA383010961 | TBCEL-TECTA,TECTA | c.6460A>T (p.Thr2154Ser) c.6445A>T (p.Thr2149Ser) c.3980A>T n.2840A>T c.7402A>T (p.Thr2468Ser) | |
| 11 | g.121190799C>A | CA383010964 | TBCEL-TECTA,TECTA | c.6461C>A (p.Thr2154Asn) c.6446C>A (p.Thr2149Asn) c.3981C>A n.2841C>A c.7403C>A (p.Thr2468Asn) | gnomAD v4 COSMIC |
| 11 | g.121190799C= | CA2004740478 | TBCEL-TECTA,TECTA | c.6461C= (p.Thr2154=) c.6446C= (p.Thr2149=) c.3981C= n.2841C= c.7403C= (p.Thr2468=) | |
| 11 | g.121190799C>G | CA383010967 | TBCEL-TECTA,TECTA | c.6461C>G (p.Thr2154Ser) c.6446C>G (p.Thr2149Ser) c.3981C>G n.2841C>G c.7403C>G (p.Thr2468Ser) | |
| 11 | g.121190799C>T | CA6327996 | TBCEL-TECTA,TECTA | c.6461C>T (p.Thr2154Ile) c.6446C>T (p.Thr2149Ile) c.3981C>T n.2841C>T c.7403C>T (p.Thr2468Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121190800C>A | CA477210091 | TBCEL-TECTA,TECTA | c.6462C>A (p.Thr2154=) c.6447C>A (p.Thr2149=) c.3982C>A n.2842C>A c.7404C>A (p.Thr2468=) | gnomAD v4 COSMIC |
| 11 | g.121190800C>G | CA477210093 | TBCEL-TECTA,TECTA | c.6462C>G (p.Thr2154=) c.6447C>G (p.Thr2149=) c.3982C>G n.2842C>G c.7404C>G (p.Thr2468=) | |
| 11 | g.121190800C>T | CA477210094 | TBCEL-TECTA,TECTA | c.6462C>T (p.Thr2154=) c.6447C>T (p.Thr2149=) c.3982C>T n.2842C>T c.7404C>T (p.Thr2468=) | gnomAD v4 |
| 11 | g.121190801T>A | CA383010970 | TBCEL-TECTA,TECTA | c.6463T>A (p.Ser2155Thr) c.6448T>A (p.Ser2150Thr) c.3983T>A n.2843T>A c.7405T>A (p.Ser2469Thr) | |
| 11 | g.121190801T>C | CA383010974 | TBCEL-TECTA,TECTA | c.6463T>C (p.Ser2155Pro) c.6448T>C (p.Ser2150Pro) c.3983T>C n.2843T>C c.7405T>C (p.Ser2469Pro) | |
| 11 | g.121190801T>G | CA383010972 | TBCEL-TECTA,TECTA | c.6463T>G (p.Ser2155Ala) c.6448T>G (p.Ser2150Ala) c.3983T>G n.2843T>G c.7405T>G (p.Ser2469Ala) | |
| 11 | g.121190802C>A | CA383010977 | TBCEL-TECTA,TECTA | c.6464C>A (p.Ser2155Ter) c.6449C>A (p.Ser2150Ter) c.3984C>A n.2844C>A c.7406C>A (p.Ser2469Ter) | |
| 11 | g.121190802C= | CA2004740479 | TBCEL-TECTA,TECTA | c.6464C= (p.Ser2155=) c.6449C= (p.Ser2150=) c.3984C= n.2844C= c.7406C= (p.Ser2469=) | |
| 11 | g.121190802C>G | CA383010978 | TBCEL-TECTA,TECTA | c.6464C>G (p.Ser2155Ter) c.6449C>G (p.Ser2150Ter) c.3984C>G n.2844C>G c.7406C>G (p.Ser2469Ter) | |
| 11 | g.121190802C>T | CA383010981 | TBCEL-TECTA,TECTA | c.6464C>T (p.Ser2155Leu) c.6449C>T (p.Ser2150Leu) c.3984C>T n.2844C>T c.7406C>T (p.Ser2469Leu) | dbSNP COSMIC |
| 11 | g.121190803A>C | CA477210101 | TBCEL-TECTA,TECTA | c.6465A>C (p.Ser2155=) c.6450A>C (p.Ser2150=) c.3985A>C n.2845A>C c.7407A>C (p.Ser2469=) | |
| 11 | g.121190803A>G | CA477210102 | TBCEL-TECTA,TECTA | c.6465A>G (p.Ser2155=) c.6450A>G (p.Ser2150=) c.3985A>G n.2845A>G c.7407A>G (p.Ser2469=) | |
| 11 | g.121190803A>T | CA477210103 | TBCEL-TECTA,TECTA | c.6465A>T (p.Ser2155=) c.6450A>T (p.Ser2150=) c.3985A>T n.2845A>T c.7407A>T (p.Ser2469=) | |
| 11 | g.121190804T>A | CA383010985 | TBCEL-TECTA,TECTA | c.6466T>A (p.Ter2156Lys) c.6451T>A (p.Ter2151Lys) c.3986T>A n.2846T>A c.7408T>A (p.Ter2470Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121190804T>C | CA383010987 | TBCEL-TECTA,TECTA | c.6466T>C (p.Ter2156Gln) c.6451T>C (p.Ter2151Gln) c.3986T>C n.2846T>C c.7408T>C (p.Ter2470Gln) | |
| 11 | g.121190804T>G | CA383010990 | TBCEL-TECTA,TECTA | c.6466T>G (p.Ter2156Glu) c.6451T>G (p.Ter2151Glu) c.3986T>G n.2846T>G c.7408T>G (p.Ter2470Glu) | |
| 11 | g.121190804T= | CA2004740482 | TBCEL-TECTA,TECTA | c.6466T= (p.Ter2156=) c.6451T= (p.Ter2151=) c.3986T= n.2846T= c.7408T= (p.Ter2470=) | |
| 11 | g.121190805A>C | CA383010993 | TBCEL-TECTA,TECTA | c.6467A>C (p.Ter2156Ser) c.6452A>C (p.Ter2151Ser) c.3987A>C n.2847A>C c.7409A>C (p.Ter2470Ser) | |
| 11 | g.121190805A>G | CA477210108 | TBCEL-TECTA,TECTA | c.6467A>G (p.Ter2156=) c.6452A>G (p.Ter2151=) c.3987A>G n.2847A>G c.7409A>G (p.Ter2470=) | |
| 11 | g.121190805A>T | CA383010994 | TBCEL-TECTA,TECTA | c.6467A>T (p.Ter2156Leu) c.6452A>T (p.Ter2151Leu) c.3987A>T n.2847A>T c.7409A>T (p.Ter2470Leu) | |
| 11 | g.121190806A= | CA2004740484 | TBCEL-TECTA,TECTA | c.6468A= (p.Ter2156=) c.6453A= (p.Ter2151=) c.3988A= n.2848A= c.7410A= (p.Ter2470=) | |
| 11 | g.121190806A>C | CA383010997 | TBCEL-TECTA,TECTA | c.6468A>C (p.Ter2156Tyr) c.6453A>C (p.Ter2151Tyr) c.3988A>C n.2848A>C c.7410A>C (p.Ter2470Tyr) | |
| 11 | g.121190806A>G | CA6327997 | TBCEL-TECTA,TECTA | c.6468A>G (p.Ter2156=) c.6453A>G (p.Ter2151=) c.3988A>G n.2848A>G c.7410A>G (p.Ter2470=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121190806A>T | CA383011001 | TBCEL-TECTA,TECTA | c.6468A>T (p.Ter2156Tyr) c.6453A>T (p.Ter2151Tyr) c.3988A>T n.2848A>T c.7410A>T (p.Ter2470Tyr) | |
| 11 | g.121190808T>G | CA2616490560 | TBCEL-TECTA,TECTA | c.*2T>G (n.*2T>G) c.3990T>G n.2850T>G | gnomAD v4 |
| 11 | g.121190811_121190815del | CA2575008751 | TBCEL-TECTA,TECTA | c.*5_*9del (n.*5_*9del) c.3993_3997del n.2853_2857del | |
| 11 | g.121190813C>A | CA2616490562 | TBCEL-TECTA,TECTA | c.*7C>A (n.*7C>A) c.3995C>A n.2855C>A | gnomAD v4 |
| 11 | g.121190813C>T | CA2616490561 | TBCEL-TECTA,TECTA | c.*7C>T (n.*7C>T) c.3995C>T n.2855C>T | gnomAD v4 |
| 11 | g.121190814A>C | CA2534348334 | TBCEL-TECTA,TECTA | c.*8A>C (n.*8A>C) c.3996A>C n.2856A>C | gnomAD v4 |
| 11 | g.121190816G>T | CA2616490563 | TBCEL-TECTA,TECTA | c.*10G>T (n.*10G>T) c.3998G>T n.2858G>T | gnomAD v4 |
| 11 | g.121190817G>A | CA6327998 | TBCEL-TECTA,TECTA | c.*11G>A (n.*11G>A) c.3999G>A n.2859G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121190817G= | CA2004740490 | TBCEL-TECTA,TECTA | c.*11G= (n.*11G=) c.3999G= n.2859G= | |
| 11 | g.121190817G>T | CA602222274 | TBCEL-TECTA,TECTA | c.*11G>T (n.*11G>T) c.3999G>T n.2859G>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121190819T>A | CA2004740501 | TBCEL-TECTA,TECTA | c.*13T>A (n.*13T>A) c.4001T>A n.2861T>A | dbSNP gnomAD v4 |