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.133775425G>A | CA546420547 | TF | c.1688-8G>A (n.1688-8G>A) c.419-8G>A n.2674G>A c.1556-8G>A (n.1556-8G>A) c.1307-8G>A (n.1307-8G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.133775425G= | CA1403130714 | TF | c.1688-8G= (n.1688-8G=) c.419-8G= n.2674G= c.1556-8G= (n.1556-8G=) c.1307-8G= (n.1307-8G=) | |
| 3 | g.133775427C>T | CA2697556850 | TF | c.1688-6C>T (n.1688-6C>T) c.419-6C>T n.2676C>T c.1556-6C>T (n.1556-6C>T) c.1307-6C>T (n.1307-6C>T) | ClinVar |
| 3 | g.133775428C>A | CA2667772095 | TF | c.1688-5C>A (n.1688-5C>A) c.419-5C>A n.2677C>A c.1556-5C>A (n.1556-5C>A) c.1307-5C>A (n.1307-5C>A) | gnomAD v4 |
| 3 | g.133775429C>A | CA2625398 | TF | c.1688-4C>A (n.1688-4C>A) c.419-4C>A n.2678C>A c.1556-4C>A (n.1556-4C>A) c.1307-4C>A (n.1307-4C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775429C= | CA1403130717 | TF | c.1688-4C= (n.1688-4C=) c.419-4C= n.2678C= c.1556-4C= (n.1556-4C=) c.1307-4C= (n.1307-4C=) | |
| 3 | g.133775429C>G | CA546420548 | TF | c.1688-4C>G (n.1688-4C>G) c.419-4C>G n.2678C>G c.1556-4C>G (n.1556-4C>G) c.1307-4C>G (n.1307-4C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.133775431A= | CA1403130720 | TF | c.1688-2A= (n.1688-2A=) c.419-2A= n.2680A= c.1556-2A= (n.1556-2A=) c.1307-2A= (n.1307-2A=) | |
| 3 | g.133775431A>C | CA354610037 | TF | c.1688-2A>C (n.1688-2A>C) c.419-2A>C n.2680A>C c.1556-2A>C (n.1556-2A>C) c.1307-2A>C (n.1307-2A>C) | |
| 3 | g.133775431A>G | CA2625399 | TF | c.1688-2A>G (n.1688-2A>G) c.419-2A>G n.2680A>G c.1556-2A>G (n.1556-2A>G) c.1307-2A>G (n.1307-2A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.133775431A>T | CA354610035 | TF | c.1688-2A>T (n.1688-2A>T) c.419-2A>T n.2680A>T c.1556-2A>T (n.1556-2A>T) c.1307-2A>T (n.1307-2A>T) | |
| 3 | g.133775432G>A | CA354610040 | TF | c.1688-1G>A (n.1688-1G>A) c.419-1G>A n.2681G>A c.1556-1G>A (n.1556-1G>A) c.1307-1G>A (n.1307-1G>A) | gnomAD v4 |
| 3 | g.133775432G>C | CA354610041 | TF | c.1688-1G>C (n.1688-1G>C) c.419-1G>C n.2681G>C c.1556-1G>C (n.1556-1G>C) c.1307-1G>C (n.1307-1G>C) | |
| 3 | g.133775432G>T | CA354610043 | TF | c.1688-1G>T (n.1688-1G>T) c.419-1G>T n.2681G>T c.1556-1G>T (n.1556-1G>T) c.1307-1G>T (n.1307-1G>T) | |
| 3 | g.133775433G>A | CA83692721 | TF | c.1688G>A (p.Gly563Glu) c.419G>A n.2682G>A c.1556G>A (p.Gly519Glu) c.1307G>A (p.Gly436Glu) | dbSNP COSMIC |
| 3 | g.133775433G>C | CA354610046 | TF | c.1688G>C (p.Gly563Ala) c.419G>C n.2682G>C c.1556G>C (p.Gly519Ala) c.1307G>C (p.Gly436Ala) | |
| 3 | g.133775433G= | CA1403130724 | TF | c.1688G= (p.Gly563=) c.419G= n.2682G= c.1556G= (p.Gly519=) c.1307G= (p.Gly436=) | |
| 3 | g.133775433G>T | CA354610047 | TF | c.1688G>T (p.Gly563Val) c.419G>T n.2682G>T c.1556G>T (p.Gly519Val) c.1307G>T (p.Gly436Val) | |
| 3 | g.133775434A>C | CA435815795 | TF | c.1689A>C (p.Gly563=) c.420A>C n.2683A>C c.1557A>C (p.Gly519=) c.1308A>C (p.Gly436=) | |
| 3 | g.133775434A>G | CA435815796 | TF | c.1689A>G (p.Gly563=) c.420A>G n.2683A>G c.1557A>G (p.Gly519=) c.1308A>G (p.Gly436=) | |
| 3 | g.133775434A>T | CA435815797 | TF | c.1689A>T (p.Gly563=) c.420A>T n.2683A>T c.1557A>T (p.Gly519=) c.1308A>T (p.Gly436=) | |
| 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 |