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.46373299G>A | CA352470972 | CCR5,CCR5AS | c.397G>A (p.Ala133Thr) n.392-1882C>T | gnomAD v4 |
| 3 | g.46373299G>C | CA352470971 | CCR5,CCR5AS | c.397G>C (p.Ala133Pro) n.392-1882C>G | |
| 3 | g.46373299G>T | CA352470969 | CCR5,CCR5AS | c.397G>T (p.Ala133Ser) n.392-1882C>A | |
| 3 | g.46373300C>A | CA352470975 | CCR5,CCR5AS | c.398C>A (p.Ala133Asp) n.392-1883G>T | |
| 3 | g.46373300C>G | CA352470977 | CCR5,CCR5AS | c.398C>G (p.Ala133Gly) n.392-1883G>C | |
| 3 | g.46373300C>T | CA352470978 | CCR5,CCR5AS | c.398C>T (p.Ala133Val) n.392-1883G>A | COSMIC |
| 3 | g.46373300_46373302delinsCTG | CA1362082542 | CCR5,CCR5AS | c.398_400delinsCTG (p.Ala133=) n.392-1885_392-1883delinsCAG | |
| 3 | g.46373301T>A | CA433593315 | CCR5,CCR5AS | c.399T>A (p.Ala133=) n.392-1884A>T | |
| 3 | g.46373301T>C | CA433593316 | CCR5,CCR5AS | c.399T>C (p.Ala133=) n.392-1884A>G | |
| 3 | g.46373301T>G | CA433593317 | CCR5,CCR5AS | c.399T>G (p.Ala133=) n.392-1884A>C | |
| 3 | g.46373304_46373305del | CA543041134 | CCR5,CCR5AS | c.402_403del (p.Phe135CysfsTer?) n.392-1885_392-1884del | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46373302G>A | CA352470981 | CCR5,CCR5AS | c.400G>A (p.Val134Met) n.392-1885C>T | dbSNP |
| 3 | g.46373302G>C | CA352470982 | CCR5,CCR5AS | c.400G>C (p.Val134Leu) n.392-1885C>G | |
| 3 | g.46373302G= | CA1362082543 | CCR5,CCR5AS | c.400G= (p.Val134=) n.392-1885C= | |
| 3 | g.46373302G>T | CA352470984 | CCR5,CCR5AS | c.400G>T (p.Val134Leu) n.392-1885C>A | COSMIC |
| 3 | g.46373303T>A | CA352470987 | CCR5,CCR5AS | c.401T>A (p.Val134Glu) n.392-1886A>T | |
| 3 | g.46373303T>C | CA352470990 | CCR5,CCR5AS | c.401T>C (p.Val134Ala) n.392-1886A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46373303T>G | CA352470988 | CCR5,CCR5AS | c.401T>G (p.Val134Gly) n.392-1886A>C | |
| 3 | g.46373303T= | CA1362082544 | CCR5,CCR5AS | c.401T= (p.Val134=) n.392-1886A= | |
| 3 | g.46373304G>A | CA433593319 | CCR5,CCR5AS | c.402G>A (p.Val134=) n.392-1887C>T | |
| 3 | g.46373304G>C | CA433593320 | CCR5,CCR5AS | c.402G>C (p.Val134=) n.392-1887C>G | gnomAD v4 |
| 3 | g.46373304G>T | CA433593321 | CCR5,CCR5AS | c.402G>T (p.Val134=) n.392-1887C>A | |
| 3 | g.46373305_46373321del | CA2577573856 | CCR5,CCR5AS | c.403_419del (p.Phe135AspfsTer?) n.392-1903_392-1887del | |
| 3 | g.46373305T>A | CA352470992 | CCR5,CCR5AS | c.403T>A (p.Phe135Ile) n.392-1888A>T | |
| 3 | g.46373305T>C | CA352470995 | CCR5,CCR5AS | c.403T>C (p.Phe135Leu) n.392-1888A>G | dbSNP |
| 3 | g.46373305T>G | CA352470997 | CCR5,CCR5AS | c.403T>G (p.Phe135Val) n.392-1888A>C | |
| 3 | g.46373305T= | CA1362082545 | CCR5,CCR5AS | c.403T= (p.Phe135=) n.392-1888A= | |
| 3 | g.46373306T>A | CA352470999 | CCR5,CCR5AS | c.404T>A (p.Phe135Tyr) n.392-1889A>T | |
| 3 | g.46373306T>C | CA352471001 | CCR5,CCR5AS | c.404T>C (p.Phe135Ser) n.392-1889A>G | dbSNP |
| 3 | g.46373306T>G | CA352471003 | CCR5,CCR5AS | c.404T>G (p.Phe135Cys) n.392-1889A>C | |
| 3 | g.46373306T= | CA1362082546 | CCR5,CCR5AS | c.404T= (p.Phe135=) n.392-1889A= | |
| 3 | g.46373307T>A | CA352471005 | CCR5,CCR5AS | c.405T>A (p.Phe135Leu) n.392-1890A>T | dbSNP |
| 3 | g.46373307T>C | CA2354645 | CCR5,CCR5AS | c.405T>C (p.Phe135=) n.392-1890A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46373307T>G | CA352471009 | CCR5,CCR5AS | c.405T>G (p.Phe135Leu) n.392-1890A>C | |
| 3 | g.46373307T= | CA1362082547 | CCR5,CCR5AS | c.405T= (p.Phe135=) n.392-1890A= | |
| 3 | g.46373308G>A | CA352471011 | CCR5,CCR5AS | c.406G>A (p.Ala136Thr) n.392-1891C>T | gnomAD v4 |
| 3 | g.46373308G>C | CA352471013 | CCR5,CCR5AS | c.406G>C (p.Ala136Pro) n.392-1891C>G | dbSNP gnomAD v4 |
| 3 | g.46373308G= | CA1362082548 | CCR5,CCR5AS | c.406G= (p.Ala136=) n.392-1891C= | |
| 3 | g.46373308G>T | CA352471015 | CCR5,CCR5AS | c.406G>T (p.Ala136Ser) n.392-1891C>A | |
| 3 | g.46373309C>A | CA352471021 | CCR5,CCR5AS | c.407C>A (p.Ala136Asp) n.392-1892G>T | |
| 3 | g.46373309C= | CA1362082549 | CCR5,CCR5AS | c.407C= (p.Ala136=) n.392-1892G= | |
| 3 | g.46373309C>G | CA352471019 | CCR5,CCR5AS | c.407C>G (p.Ala136Gly) n.392-1892G>C | |
| 3 | g.46373309C>T | CA352471017 | CCR5,CCR5AS | c.407C>T (p.Ala136Val) n.392-1892G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.46373310T>A | CA433593325 | CCR5,CCR5AS | c.408T>A (p.Ala136=) n.392-1893A>T | |
| 3 | g.46373310T>C | CA433593329 | CCR5,CCR5AS | c.408T>C (p.Ala136=) n.392-1893A>G | |
| 3 | g.46373310T>G | CA433593327 | CCR5,CCR5AS | c.408T>G (p.Ala136=) n.392-1893A>C | |
| 3 | g.46373311T>A | CA352471024 | CCR5,CCR5AS | c.409T>A (p.Leu137Ile) n.392-1894A>T | |
| 3 | g.46373311T>C | CA433593331 | CCR5,CCR5AS | c.409T>C (p.Leu137=) n.392-1894A>G | |
| 3 | g.46373311T>G | CA352471022 | CCR5,CCR5AS | c.409T>G (p.Leu137Val) n.392-1894A>C | |
| 3 | g.46373312T>A | CA352471027 | CCR5,CCR5AS | c.410T>A (p.Leu137Ter) n.392-1895A>T |