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 |
|---|---|---|---|---|---|
| 4 | g.70642591G>A | CA2952083 | ENAM | c.1165G>A (p.Gly389Ser) n.99+4748G>A c.511G>A (p.Gly171Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.70642591G>C | CA357139853 | ENAM | c.1165G>C (p.Gly389Arg) n.99+4748G>C c.511G>C (p.Gly171Arg) | |
| 4 | g.70642591G= | CA1466851243 | ENAM | c.1165G= (p.Gly389=) n.99+4748G= c.511G= (p.Gly171=) | |
| 4 | g.70642591G>T | CA357139849 | ENAM | c.1165G>T (p.Gly389Cys) n.99+4748G>T c.511G>T (p.Gly171Cys) | |
| 4 | g.70642592G>A | CA357139859 | ENAM | c.1166G>A (p.Gly389Asp) n.99+4749G>A c.512G>A (p.Gly171Asp) | gnomAD v4 |
| 4 | g.70642592G>C | CA357139857 | ENAM | c.1166G>C (p.Gly389Ala) n.99+4749G>C c.512G>C (p.Gly171Ala) | |
| 4 | g.70642592G>T | CA357139861 | ENAM | c.1166G>T (p.Gly389Val) n.99+4749G>T c.512G>T (p.Gly171Val) | |
| 4 | g.70642593C>A | CA439943110 | ENAM | c.1167C>A (p.Gly389=) n.99+4750C>A c.513C>A (p.Gly171=) | |
| 4 | g.70642593C= | CA1466851253 | ENAM | c.1167C= (p.Gly389=) n.99+4750C= c.513C= (p.Gly171=) | |
| 4 | g.70642593C>G | CA439943108 | ENAM | c.1167C>G (p.Gly389=) n.99+4750C>G c.513C>G (p.Gly171=) | |
| 4 | g.70642593C>T | CA2952084 | ENAM | c.1167C>T (p.Gly389=) n.99+4750C>T c.513C>T (p.Gly171=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.70642594A>C | CA357139866 | ENAM | c.1168A>C (p.Asn390His) n.99+4751A>C c.514A>C (p.Asn172His) | |
| 4 | g.70642594A>G | CA357139868 | ENAM | c.1168A>G (p.Asn390Asp) n.99+4751A>G c.514A>G (p.Asn172Asp) | |
| 4 | g.70642594A>T | CA357139870 | ENAM | c.1168A>T (p.Asn390Tyr) n.99+4751A>T c.514A>T (p.Asn172Tyr) | |
| 4 | g.70642595A>C | CA357139872 | ENAM | c.1169A>C (p.Asn390Thr) n.99+4752A>C c.515A>C (p.Asn172Thr) | |
| 4 | g.70642595A>G | CA357139874 | ENAM | c.1169A>G (p.Asn390Ser) n.99+4752A>G c.515A>G (p.Asn172Ser) | |
| 4 | g.70642595A>T | CA357139876 | ENAM | c.1169A>T (p.Asn390Ile) n.99+4752A>T c.515A>T (p.Asn172Ile) | |
| 4 | g.70642596T>A | CA357139877 | ENAM | c.1170T>A (p.Asn390Lys) n.99+4753T>A c.516T>A (p.Asn172Lys) | |
| 4 | g.70642596T>C | CA439943115 | ENAM | c.1170T>C (p.Asn390=) n.99+4753T>C c.516T>C (p.Asn172=) | |
| 4 | g.70642596T>G | CA357139879 | ENAM | c.1170T>G (p.Asn390Lys) n.99+4753T>G c.516T>G (p.Asn172Lys) | gnomAD v4 |
| 4 | g.70642597T>A | CA99035518 | ENAM | c.1171T>A (p.Tyr391Asn) n.99+4754T>A c.517T>A (p.Tyr173Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.70642597T>C | CA357139881 | ENAM | c.1171T>C (p.Tyr391His) n.99+4754T>C c.517T>C (p.Tyr173His) | |
| 4 | g.70642597T>G | CA357139882 | ENAM | c.1171T>G (p.Tyr391Asp) n.99+4754T>G c.517T>G (p.Tyr173Asp) | |
| 4 | g.70642597T= | CA1466851262 | ENAM | c.1171T= (p.Tyr391=) n.99+4754T= c.517T= (p.Tyr173=) | |
| 4 | g.70642598A>C | CA357139889 | ENAM | c.1172A>C (p.Tyr391Ser) n.99+4755A>C c.518A>C (p.Tyr173Ser) | |
| 4 | g.70642598A>G | CA357139887 | ENAM | c.1172A>G (p.Tyr391Cys) n.99+4755A>G c.518A>G (p.Tyr173Cys) | |
| 4 | g.70642598A>T | CA357139885 | ENAM | c.1172A>T (p.Tyr391Phe) n.99+4755A>T c.518A>T (p.Tyr173Phe) | |
| 4 | g.70642599T>A | CA357139892 | ENAM | c.1173T>A (p.Tyr391Ter) n.99+4756T>A c.519T>A (p.Tyr173Ter) | |
| 4 | g.70642599T>C | CA439943117 | ENAM | c.1173T>C (p.Tyr391=) n.99+4756T>C c.519T>C (p.Tyr173=) | dbSNP |
| 4 | g.70642599T>G | CA357139894 | ENAM | c.1173T>G (p.Tyr391Ter) n.99+4756T>G c.519T>G (p.Tyr173Ter) | |
| 4 | g.70642599T= | CA1466851266 | ENAM | c.1173T= (p.Tyr391=) n.99+4756T= c.519T= (p.Tyr173=) | |
| 4 | g.70642599dup | CA2578106207 | ENAM | c.1173dup (p.Pro392SerfsTer19) n.99+4756dup c.519dup (p.Pro174SerfsTer19) | |
| 4 | g.70642600C>A | CA357139896 | ENAM | c.1174C>A (p.Pro392Thr) n.99+4757C>A c.520C>A (p.Pro174Thr) | |
| 4 | g.70642600C= | CA1466851267 | ENAM | c.1174C= (p.Pro392=) n.99+4757C= c.520C= (p.Pro174=) | |
| 4 | g.70642600C>G | CA357139898 | ENAM | c.1174C>G (p.Pro392Ala) n.99+4757C>G c.520C>G (p.Pro174Ala) | dbSNP |
| 4 | g.70642600C>T | CA357139900 | ENAM | c.1174C>T (p.Pro392Ser) n.99+4757C>T c.520C>T (p.Pro174Ser) | COSMIC |
| 4 | g.70642601C>A | CA357139902 | ENAM | c.1175C>A (p.Pro392His) n.99+4758C>A c.521C>A (p.Pro174His) | |
| 4 | g.70642601C>G | CA357139904 | ENAM | c.1175C>G (p.Pro392Arg) n.99+4758C>G c.521C>G (p.Pro174Arg) | |
| 4 | g.70642601C>T | CA357139906 | ENAM | c.1175C>T (p.Pro392Leu) n.99+4758C>T c.521C>T (p.Pro174Leu) | gnomAD v4 |
| 4 | g.70642602C>A | CA439943123 | ENAM | c.1176C>A (p.Pro392=) n.99+4759C>A c.522C>A (p.Pro174=) | |
| 4 | g.70642602C= | CA1466851271 | ENAM | c.1176C= (p.Pro392=) n.99+4759C= c.522C= (p.Pro174=) | |
| 4 | g.70642602C>G | CA439943124 | ENAM | c.1176C>G (p.Pro392=) n.99+4759C>G c.522C>G (p.Pro174=) | |
| 4 | g.70642602C>T | CA2952085 | ENAM | c.1176C>T (p.Pro392=) n.99+4759C>T c.522C>T (p.Pro174=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.70642603A>C | CA357139910 | ENAM | c.1177A>C (p.Asn393His) n.99+4760A>C c.523A>C (p.Asn175His) | |
| 4 | g.70642603A>G | CA357139912 | ENAM | c.1177A>G (p.Asn393Asp) n.99+4760A>G c.523A>G (p.Asn175Asp) | |
| 4 | g.70642603A>T | CA357139914 | ENAM | c.1177A>T (p.Asn393Tyr) n.99+4760A>T c.523A>T (p.Asn175Tyr) | |
| 4 | g.70642604A= | CA1466851274 | ENAM | c.1178A= (p.Asn393=) n.99+4761A= c.524A= (p.Asn175=) | |
| 4 | g.70642604A>C | CA357139920 | ENAM | c.1178A>C (p.Asn393Thr) n.99+4761A>C c.524A>C (p.Asn175Thr) | gnomAD v4 |
| 4 | g.70642604A>G | CA357139918 | ENAM | c.1178A>G (p.Asn393Ser) n.99+4761A>G c.524A>G (p.Asn175Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.70642604A>T | CA357139916 | ENAM | c.1178A>T (p.Asn393Ile) n.99+4761A>T c.524A>T (p.Asn175Ile) |