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.119811625_119811634delinsGTGCAGGGGC | CA1396725553 | NR1I2 | c.418_427delinsGTGCAGGGGC (p.Val140=) c.535_544delinsGTGCAGGGGC (p.Val179=) n.550_559delinsGTGCAGGGGC | |
| 3 | g.119811628_119811636del | CA2557852 | NR1I2 | c.421_429del (p.Gln141_Leu143del) c.538_546del (p.Gln180_Leu182del) n.553_561del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119811629A>C | CA354058199 | NR1I2 | c.422A>C (p.Gln141Pro) c.539A>C (p.Gln180Pro) n.554A>C | |
| 3 | g.119811629A>G | CA354058202 | NR1I2 | c.422A>G (p.Gln141Arg) c.539A>G (p.Gln180Arg) n.554A>G | |
| 3 | g.119811629A>T | CA354058204 | NR1I2 | c.422A>T (p.Gln141Leu) c.539A>T (p.Gln180Leu) n.554A>T | |
| 3 | g.119811630G>A | CA435220191 | NR1I2 | c.423G>A (p.Gln141=) c.540G>A (p.Gln180=) n.555G>A | |
| 3 | g.119811630G>C | CA354058208 | NR1I2 | c.423G>C (p.Gln141His) c.540G>C (p.Gln180His) n.555G>C | |
| 3 | g.119811630G>T | CA354058210 | NR1I2 | c.423G>T (p.Gln141His) c.540G>T (p.Gln180His) n.555G>T | |
| 3 | g.119811631G>A | CA354058211 | NR1I2 | c.424G>A (p.Gly142Arg) c.541G>A (p.Gly181Arg) n.556G>A | |
| 3 | g.119811631G>C | CA354058213 | NR1I2 | c.424G>C (p.Gly142Arg) c.541G>C (p.Gly181Arg) n.556G>C | |
| 3 | g.119811631G= | CA1396725556 | NR1I2 | c.424G= (p.Gly142=) c.541G= (p.Gly181=) n.556G= | |
| 3 | g.119811631G>T | CA2557855 | NR1I2 | c.424G>T (p.Gly142Trp) c.541G>T (p.Gly181Trp) n.556G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.119811632G>A | CA354058214 | NR1I2 | c.425G>A (p.Gly142Glu) c.542G>A (p.Gly181Glu) n.557G>A | gnomAD v4 |
| 3 | g.119811632G>C | CA354058215 | NR1I2 | c.425G>C (p.Gly142Ala) c.542G>C (p.Gly181Ala) n.557G>C | |
| 3 | g.119811632G>T | CA354058219 | NR1I2 | c.425G>T (p.Gly142Val) c.542G>T (p.Gly181Val) n.557G>T | |
| 3 | g.119811633G>A | CA2557856 | NR1I2 | c.426G>A (p.Gly142=) c.543G>A (p.Gly181=) n.558G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.119811633G>C | CA435220192 | NR1I2 | c.426G>C (p.Gly142=) c.543G>C (p.Gly181=) n.558G>C | |
| 3 | g.119811633G= | CA1396725557 | NR1I2 | c.426G= (p.Gly142=) c.543G= (p.Gly181=) n.558G= | |
| 3 | g.119811633G>T | CA435220193 | NR1I2 | c.426G>T (p.Gly142=) c.543G>T (p.Gly181=) n.558G>T | |
| 3 | g.119811634C>A | CA354058223 | NR1I2 | c.427C>A (p.Leu143Met) c.544C>A (p.Leu182Met) n.559C>A | |
| 3 | g.119811634C>G | CA354058225 | NR1I2 | c.427C>G (p.Leu143Val) c.544C>G (p.Leu182Val) n.559C>G | |
| 3 | g.119811634C>T | CA435220194 | NR1I2 | c.427C>T (p.Leu143=) c.544C>T (p.Leu182=) n.559C>T | |
| 3 | g.119811635T>A | CA354058227 | NR1I2 | c.428T>A (p.Leu143Gln) c.545T>A (p.Leu182Gln) n.560T>A | |
| 3 | g.119811635T>C | CA354058230 | NR1I2 | c.428T>C (p.Leu143Pro) c.545T>C (p.Leu182Pro) n.560T>C | |
| 3 | g.119811635T>G | CA354058232 | NR1I2 | c.428T>G (p.Leu143Arg) c.545T>G (p.Leu182Arg) n.560T>G | |
| 3 | g.119811636G>A | CA435220195 | NR1I2 | c.429G>A (p.Leu143=) c.546G>A (p.Leu182=) n.561G>A | |
| 3 | g.119811636G>C | CA435220196 | NR1I2 | c.429G>C (p.Leu143=) c.546G>C (p.Leu182=) n.561G>C | |
| 3 | g.119811636G>T | CA435220197 | NR1I2 | c.429G>T (p.Leu143=) c.546G>T (p.Leu182=) n.561G>T | |
| 3 | g.119811637A>C | CA354058234 | NR1I2 | c.430A>C (p.Thr144Pro) c.547A>C (p.Thr183Pro) n.562A>C | |
| 3 | g.119811637A>G | CA354058235 | NR1I2 | c.430A>G (p.Thr144Ala) c.547A>G (p.Thr183Ala) n.562A>G | |
| 3 | g.119811637A>T | CA354058236 | NR1I2 | c.430A>T (p.Thr144Ser) c.547A>T (p.Thr183Ser) n.562A>T | |
| 3 | g.119811638C>A | CA354058237 | NR1I2 | c.431C>A (p.Thr144Lys) c.548C>A (p.Thr183Lys) n.563C>A | |
| 3 | g.119811638C>G | CA354058238 | NR1I2 | c.431C>G (p.Thr144Arg) c.548C>G (p.Thr183Arg) n.563C>G | |
| 3 | g.119811638C>T | CA354058239 | NR1I2 | c.431C>T (p.Thr144Ile) c.548C>T (p.Thr183Ile) n.563C>T | |
| 3 | g.119811639A= | CA1396725558 | NR1I2 | c.432A= (p.Thr144=) c.549A= (p.Thr183=) n.564A= | |
| 3 | g.119811639A>C | CA435220198 | NR1I2 | c.432A>C (p.Thr144=) c.549A>C (p.Thr183=) n.564A>C | dbSNP |
| 3 | g.119811639A>G | CA435220199 | NR1I2 | c.432A>G (p.Thr144=) c.549A>G (p.Thr183=) n.564A>G | |
| 3 | g.119811639A>T | CA435220200 | NR1I2 | c.432A>T (p.Thr144=) c.549A>T (p.Thr183=) n.564A>T | |
| 3 | g.119811640G>A | CA354058240 | NR1I2 | c.433G>A (p.Glu145Lys) c.550G>A (p.Glu184Lys) n.565G>A | |
| 3 | g.119811640G>C | CA354058241 | NR1I2 | c.433G>C (p.Glu145Gln) c.550G>C (p.Glu184Gln) n.565G>C | COSMIC |
| 3 | g.119811640G>T | CA354058244 | NR1I2 | c.433G>T (p.Glu145Ter) c.550G>T (p.Glu184Ter) n.565G>T | |
| 3 | g.119811644_119811754del | CA2667142917 | NR1I2 | c.437_519+28del c.554_636+28del n.569_651+28del | gnomAD v4 |
| 3 | g.119811641A>C | CA354058250 | NR1I2 | c.434A>C (p.Glu145Ala) c.551A>C (p.Glu184Ala) n.566A>C | |
| 3 | g.119811641A>G | CA354058251 | NR1I2 | c.434A>G (p.Glu145Gly) c.551A>G (p.Glu184Gly) n.566A>G | |
| 3 | g.119811641A>T | CA354058247 | NR1I2 | c.434A>T (p.Glu145Val) c.551A>T (p.Glu184Val) n.566A>T | |
| 3 | g.119811642G>A | CA81752756 | NR1I2 | c.435G>A (p.Glu145=) c.552G>A (p.Glu184=) n.567G>A | dbSNP |
| 3 | g.119811642G>C | CA354058252 | NR1I2 | c.435G>C (p.Glu145Asp) c.552G>C (p.Glu184Asp) n.567G>C | |
| 3 | g.119811642G= | CA1396725559 | NR1I2 | c.435G= (p.Glu145=) c.552G= (p.Glu184=) n.567G= | |
| 3 | g.119811642G>T | CA354058253 | NR1I2 | c.435G>T (p.Glu145Asp) c.552G>T (p.Glu184Asp) n.567G>T | |
| 3 | g.119811643G>A | CA354058254 | NR1I2 | c.436G>A (p.Glu146Lys) c.553G>A (p.Glu185Lys) n.568G>A | dbSNP gnomAD v2 |