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.133775439dup | CA2667772096 | TF | c.1694dup (p.Asn565LysfsTer3) c.425dup n.2688dup c.1562dup (p.Asn521LysfsTer3) c.1313dup (p.Asn438LysfsTer3) | gnomAD v4 |
| 3 | g.133775438_133775439dup | CA2758476178 | TF | c.1693_1694dup (p.Asn565LysfsTer10) c.424_425dup n.2687_2688dup c.1561_1562dup (p.Asn521LysfsTer10) c.1312_1313dup (p.Asn438LysfsTer10) | |
| 3 | g.133775439del | CA2667772097 | TF | c.1694del (p.Asn565ThrfsTer9) c.425del n.2688del c.1562del (p.Asn521ThrfsTer9) c.1313del (p.Asn438ThrfsTer9) | gnomAD v4 |
| 3 | g.133775435A= | CA1403130728 | TF | c.1690A= (p.Lys564=) c.421A= n.2684A= c.1558A= (p.Lys520=) c.1309A= (p.Lys437=) | |
| 3 | g.133775435A>C | CA354610050 | TF | c.1690A>C (p.Lys564Gln) c.421A>C n.2684A>C c.1558A>C (p.Lys520Gln) c.1309A>C (p.Lys437Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775435A>G | CA354610051 | TF | c.1690A>G (p.Lys564Glu) c.421A>G n.2684A>G c.1558A>G (p.Lys520Glu) c.1309A>G (p.Lys437Glu) | |
| 3 | g.133775435A>T | CA354610053 | TF | c.1690A>T (p.Lys564Ter) c.421A>T n.2684A>T c.1558A>T (p.Lys520Ter) c.1309A>T (p.Lys437Ter) | |
| 3 | g.133775436A>C | CA354610055 | TF | c.1691A>C (p.Lys564Thr) c.422A>C n.2685A>C c.1559A>C (p.Lys520Thr) c.1310A>C (p.Lys437Thr) | |
| 3 | g.133775436A>G | CA354610057 | TF | c.1691A>G (p.Lys564Arg) c.422A>G n.2685A>G c.1559A>G (p.Lys520Arg) c.1310A>G (p.Lys437Arg) | |
| 3 | g.133775436A>T | CA354610059 | TF | c.1691A>T (p.Lys564Ile) c.422A>T n.2685A>T c.1559A>T (p.Lys520Ile) c.1310A>T (p.Lys437Ile) | |
| 3 | g.133775437A>C | CA354610061 | TF | c.1692A>C (p.Lys564Asn) c.423A>C n.2686A>C c.1560A>C (p.Lys520Asn) c.1311A>C (p.Lys437Asn) | |
| 3 | g.133775437A>G | CA435815798 | TF | c.1692A>G (p.Lys564=) c.423A>G n.2686A>G c.1560A>G (p.Lys520=) c.1311A>G (p.Lys437=) | |
| 3 | g.133775437A>T | CA354610062 | TF | c.1692A>T (p.Lys564Asn) c.423A>T n.2686A>T c.1560A>T (p.Lys520Asn) c.1311A>T (p.Lys437Asn) | |
| 3 | g.133775438A>C | CA354610068 | TF | c.1693A>C (p.Asn565His) c.424A>C n.2687A>C c.1561A>C (p.Asn521His) c.1312A>C (p.Asn438His) | |
| 3 | g.133775438A>G | CA354610066 | TF | c.1693A>G (p.Asn565Asp) c.424A>G n.2687A>G c.1561A>G (p.Asn521Asp) c.1312A>G (p.Asn438Asp) | |
| 3 | g.133775438A>T | CA354610065 | TF | c.1693A>T (p.Asn565Tyr) c.424A>T n.2687A>T c.1561A>T (p.Asn521Tyr) c.1312A>T (p.Asn438Tyr) | |
| 3 | g.133775439A= | CA1403130730 | TF | c.1694A= (p.Asn565=) c.425A= n.2688A= c.1562A= (p.Asn521=) c.1313A= (p.Asn438=) | |
| 3 | g.133775439A>C | CA354610070 | TF | c.1694A>C (p.Asn565Thr) c.425A>C n.2688A>C c.1562A>C (p.Asn521Thr) c.1313A>C (p.Asn438Thr) | |
| 3 | g.133775439A>G | CA354610072 | TF | c.1694A>G (p.Asn565Ser) c.425A>G n.2688A>G c.1562A>G (p.Asn521Ser) c.1313A>G (p.Asn438Ser) | |
| 3 | g.133775439A>T | CA354610074 | TF | c.1694A>T (p.Asn565Ile) c.425A>T n.2688A>T c.1562A>T (p.Asn521Ile) c.1313A>T (p.Asn438Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775440C>A | CA354610076 | TF | c.1695C>A (p.Asn565Lys) c.426C>A n.2689C>A c.1563C>A (p.Asn521Lys) c.1314C>A (p.Asn438Lys) | dbSNP gnomAD v4 |
| 3 | g.133775440C= | CA1403130732 | TF | c.1695C= (p.Asn565=) c.426C= n.2689C= c.1563C= (p.Asn521=) c.1314C= (p.Asn438=) | |
| 3 | g.133775440C>G | CA354610081 | TF | c.1695C>G (p.Asn565Lys) c.426C>G n.2689C>G c.1563C>G (p.Asn521Lys) c.1314C>G (p.Asn438Lys) | |
| 3 | g.133775440C>T | CA435815799 | TF | c.1695C>T (p.Asn565=) c.426C>T n.2689C>T c.1563C>T (p.Asn521=) c.1314C>T (p.Asn438=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775441C>A | CA354610088 | TF | c.1696C>A (p.Pro566Thr) c.427C>A n.2690C>A c.1564C>A (p.Pro522Thr) c.1315C>A (p.Pro439Thr) | |
| 3 | g.133775441C= | CA1403130734 | TF | c.1696C= (p.Pro566=) c.427C= n.2690C= c.1564C= (p.Pro522=) c.1315C= (p.Pro439=) | |
| 3 | g.133775441C>G | CA354610086 | TF | c.1696C>G (p.Pro566Ala) c.427C>G n.2690C>G c.1564C>G (p.Pro522Ala) c.1315C>G (p.Pro439Ala) | |
| 3 | g.133775441C>T | CA354610085 | TF | c.1696C>T (p.Pro566Ser) c.427C>T n.2690C>T c.1564C>T (p.Pro522Ser) c.1315C>T (p.Pro439Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775442C>A | CA354610090 | TF | c.1697C>A (p.Pro566His) c.428C>A n.2691C>A c.1565C>A (p.Pro522His) c.1316C>A (p.Pro439His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775442C= | CA1403130737 | TF | c.1697C= (p.Pro566=) c.428C= n.2691C= c.1565C= (p.Pro522=) c.1316C= (p.Pro439=) | |
| 3 | g.133775442C>G | CA354610092 | TF | c.1697C>G (p.Pro566Arg) c.428C>G n.2691C>G c.1565C>G (p.Pro522Arg) c.1316C>G (p.Pro439Arg) | dbSNP |
| 3 | g.133775442C>T | CA354610094 | TF | c.1697C>T (p.Pro566Leu) c.428C>T n.2691C>T c.1565C>T (p.Pro522Leu) c.1316C>T (p.Pro439Leu) | |
| 3 | g.133775443T>A | CA435815800 | TF | c.1698T>A (p.Pro566=) c.429T>A n.2692T>A c.1566T>A (p.Pro522=) c.1317T>A (p.Pro439=) | |
| 3 | g.133775443T>C | CA435815801 | TF | c.1698T>C (p.Pro566=) c.429T>C n.2692T>C c.1566T>C (p.Pro522=) c.1317T>C (p.Pro439=) | gnomAD v4 |
| 3 | g.133775443T>G | CA435815802 | TF | c.1698T>G (p.Pro566=) c.429T>G n.2692T>G c.1566T>G (p.Pro522=) c.1317T>G (p.Pro439=) | ClinVar |
| 3 | g.133775444G>A | CA83692722 | TF | c.1699G>A (p.Asp567Asn) c.430G>A n.2693G>A c.1567G>A (p.Asp523Asn) c.1318G>A (p.Asp440Asn) | dbSNP |
| 3 | g.133775444G>C | CA354610097 | TF | c.1699G>C (p.Asp567His) c.430G>C n.2693G>C c.1567G>C (p.Asp523His) c.1318G>C (p.Asp440His) | |
| 3 | g.133775444G= | CA1403130741 | TF | c.1699G= (p.Asp567=) c.430G= n.2693G= c.1567G= (p.Asp523=) c.1318G= (p.Asp440=) | |
| 3 | g.133775444G>T | CA354610099 | TF | c.1699G>T (p.Asp567Tyr) c.430G>T n.2693G>T c.1567G>T (p.Asp523Tyr) c.1318G>T (p.Asp440Tyr) | |
| 3 | g.133775445A>C | CA354610105 | TF | c.1700A>C (p.Asp567Ala) c.431A>C n.2694A>C c.1568A>C (p.Asp523Ala) c.1319A>C (p.Asp440Ala) | |
| 3 | g.133775445A>G | CA354610102 | TF | c.1700A>G (p.Asp567Gly) c.431A>G n.2694A>G c.1568A>G (p.Asp523Gly) c.1319A>G (p.Asp440Gly) | COSMIC |
| 3 | g.133775445A>T | CA354610103 | TF | c.1700A>T (p.Asp567Val) c.431A>T n.2694A>T c.1568A>T (p.Asp523Val) c.1319A>T (p.Asp440Val) | |
| 3 | g.133775446T>A | CA354610107 | TF | c.1701T>A (p.Asp567Glu) c.432T>A n.2695T>A c.1569T>A (p.Asp523Glu) c.1320T>A (p.Asp440Glu) | |
| 3 | g.133775446T>C | CA435815803 | TF | c.1701T>C (p.Asp567=) c.432T>C n.2695T>C c.1569T>C (p.Asp523=) c.1320T>C (p.Asp440=) | dbSNP |
| 3 | g.133775446T>G | CA354610109 | TF | c.1701T>G (p.Asp567Glu) c.432T>G n.2695T>G c.1569T>G (p.Asp523Glu) c.1320T>G (p.Asp440Glu) | |
| 3 | g.133775446T= | CA1403130745 | TF | c.1701T= (p.Asp567=) c.432T= n.2695T= c.1569T= (p.Asp523=) c.1320T= (p.Asp440=) | |
| 3 | g.133775447C>A | CA354610111 | TF | c.1702C>A (p.Pro568Thr) c.433C>A n.2696C>A c.1570C>A (p.Pro524Thr) c.1321C>A (p.Pro441Thr) | dbSNP gnomAD v4 |
| 3 | g.133775447C= | CA1403130750 | TF | c.1702C= (p.Pro568=) c.433C= n.2696C= c.1570C= (p.Pro524=) c.1321C= (p.Pro441=) | |
| 3 | g.133775447C>G | CA354610113 | TF | c.1702C>G (p.Pro568Ala) c.433C>G n.2696C>G c.1570C>G (p.Pro524Ala) c.1321C>G (p.Pro441Ala) | gnomAD v4 |
| 3 | g.133775447C>T | CA354610114 | TF | c.1702C>T (p.Pro568Ser) c.433C>T n.2696C>T c.1570C>T (p.Pro524Ser) c.1321C>T (p.Pro441Ser) |