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 |
|---|---|---|---|---|---|
| 1 | g.244863508_244864169del | CA2580063520 | HNRNPU | c.143_634+170del n.328_819+170del n.374_922+113del c.143_691+113del n.367_858+170del n.327_818+170del | ClinVar |
| 1 | g.244863789_244863797dup | CA1486784 | HNRNPU | c.196_204dup c.518_526dup (p.Gln175_Gln176insProGlnGln) n.703_711dup c.302_310dup (p.Gln103_Gln104insProGlnGln) n.749_757dup c.218_226dup (p.Gln75_Gln76insProGlnGln) n.742_750dup n.702_710dup | dbSNP ExAC gnomAD v2 |
| 1 | g.244863790_244863798dup | CA733938411 | HNRNPU | c.188_196dup c.510_518dup (p.Pro173_Gln174insGlnGlnPro) n.695_703dup c.294_302dup (p.Pro101_Gln102insGlnGlnPro) n.741_749dup c.210_218dup (p.Pro73_Gln74insGlnGlnPro) n.734_742dup n.694_702dup | dbSNP gnomAD v4 |
| 1 | g.244863795_244863798delinsTTGC | CA1231007446 | HNRNPU | c.188_191delinsGCAA c.510_513delinsGCAA (p.Gln170=) n.695_698delinsGCAA c.294_297delinsGCAA (p.Gln98=) n.741_744delinsGCAA c.210_213delinsGCAA (p.Gln70=) n.734_737delinsGCAA n.694_697delinsGCAA | |
| 1 | g.244863795_244863825delinsTTGCTGCTGCGTCGCCGGCGGTTGAGGCTGC | CA1231007447 | HNRNPU | c.161_191delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA c.483_513delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA (p.Gln161=) n.668_698delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA c.267_297delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA (p.Gln89=) n.714_744delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA c.183_213delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA (p.Gln61=) n.707_737delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA n.667_697delinsGCAGCCTCAACCGCCGGCGACGCAGCAGCAA | |
| 1 | g.244863802_244863804dup | CA733938432 | HNRNPU | c.188_190dup c.510_512dup (p.Gln171_Gln172insGln) n.695_697dup c.294_296dup (p.Gln99_Gln100insGln) n.741_743dup c.210_212dup (p.Gln71_Gln72insGln) n.734_736dup n.694_696dup | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244863802_244863804del | CA733938430 | HNRNPU | c.188_190del c.510_512del (p.Gln171del) n.695_697del c.294_296del (p.Gln99del) n.741_743del c.210_212del (p.Gln71del) n.734_736del n.694_696del | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.244863800_244863829del | CA1231007448 | HNRNPU | c.161_190del c.483_512del (p.Gln162_Gln171del) n.668_697del c.267_296del (p.Gln90_Gln99del) n.714_743del c.183_212del (p.Gln62_Gln71del) n.707_736del n.667_696del | dbSNP |
| 1 | g.244863797G>A | CA16609280 | HNRNPU | c.189C>T c.511C>T (p.Gln171Ter) n.696C>T c.295C>T (p.Gln99Ter) n.742C>T c.211C>T (p.Gln71Ter) n.735C>T n.695C>T | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.244863797G>C | CA345496770 | HNRNPU | c.189C>G c.511C>G (p.Gln171Glu) n.696C>G c.295C>G (p.Gln99Glu) n.742C>G c.211C>G (p.Gln71Glu) n.735C>G n.695C>G | dbSNP gnomAD v4 |
| 1 | g.244863797G= | CA1231007449 | HNRNPU | c.189C= c.511C= (p.Gln171=) n.696C= c.295C= (p.Gln99=) n.742C= c.211C= (p.Gln71=) n.735C= n.695C= | |
| 1 | g.244863797G>T | CA345496772 | HNRNPU | c.189C>A c.511C>A (p.Gln171Lys) n.696C>A c.295C>A (p.Gln99Lys) n.742C>A c.211C>A (p.Gln71Lys) n.735C>A n.695C>A | COSMIC COSMIC |
| 1 | g.244863798C>A | CA345496777 | HNRNPU | c.188G>T c.510G>T (p.Gln170His) n.695G>T c.294G>T (p.Gln98His) n.741G>T c.210G>T (p.Gln70His) n.734G>T n.694G>T | |
| 1 | g.244863798C= | CA1231007450 | HNRNPU | c.188G= c.510G= (p.Gln170=) n.695G= c.294G= (p.Gln98=) n.741G= c.210G= (p.Gln70=) n.734G= n.694G= | |
| 1 | g.244863798C>G | CA345496775 | HNRNPU | c.188G>C c.510G>C (p.Gln170His) n.695G>C c.294G>C (p.Gln98His) n.741G>C c.210G>C (p.Gln70His) n.734G>C n.694G>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244863798C>T | CA424402643 | HNRNPU | c.188G>A c.510G>A (p.Gln170=) n.695G>A c.294G>A (p.Gln98=) n.741G>A c.210G>A (p.Gln70=) n.734G>A n.694G>A | |
| 1 | g.244863799T>A | CA345496778 | HNRNPU | c.187A>T c.509A>T (p.Gln170Leu) n.694A>T c.293A>T (p.Gln98Leu) n.740A>T c.209A>T (p.Gln70Leu) n.733A>T n.693A>T | |
| 1 | g.244863799T>C | CA345496780 | HNRNPU | c.187A>G c.509A>G (p.Gln170Arg) n.694A>G c.293A>G (p.Gln98Arg) n.740A>G c.209A>G (p.Gln70Arg) n.733A>G n.693A>G | |
| 1 | g.244863799T>G | CA345496782 | HNRNPU | c.187A>C c.509A>C (p.Gln170Pro) n.694A>C c.293A>C (p.Gln98Pro) n.740A>C c.209A>C (p.Gln70Pro) n.733A>C n.693A>C | |
| 1 | g.244863800G>A | CA345496784 | HNRNPU | c.186C>T c.508C>T (p.Gln170Ter) n.693C>T c.292C>T (p.Gln98Ter) n.739C>T c.208C>T (p.Gln70Ter) n.732C>T n.692C>T | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.244863800G>C | CA345496786 | HNRNPU | c.186C>G c.508C>G (p.Gln170Glu) n.693C>G c.292C>G (p.Gln98Glu) n.739C>G c.208C>G (p.Gln70Glu) n.732C>G n.692C>G | |
| 1 | g.244863800G>T | CA345496787 | HNRNPU | c.186C>A c.508C>A (p.Gln170Lys) n.693C>A c.292C>A (p.Gln98Lys) n.739C>A c.208C>A (p.Gln70Lys) n.732C>A n.692C>A | |
| 1 | g.244863801C>A | CA345496789 | HNRNPU | c.185G>T c.507G>T (p.Gln169His) n.692G>T c.291G>T (p.Gln97His) n.738G>T c.207G>T (p.Gln69His) n.731G>T n.691G>T | |
| 1 | g.244863801C= | CA1141688745 | HNRNPU | c.185G= c.507G= (p.Gln169=) n.692G= c.291G= (p.Gln97=) n.738G= c.207G= (p.Gln69=) n.731G= n.691G= | |
| 1 | g.244863801C>G | CA345496791 | HNRNPU | c.185G>C c.507G>C (p.Gln169His) n.692G>C c.291G>C (p.Gln97His) n.738G>C c.207G>C (p.Gln69His) n.731G>C n.691G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.244863801C>T | CA1486787 | HNRNPU | c.185G>A c.507G>A (p.Gln169=) n.692G>A c.291G>A (p.Gln97=) n.738G>A c.207G>A (p.Gln69=) n.731G>A n.691G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.244863802T>A | CA345496793 | HNRNPU | c.184A>T c.506A>T (p.Gln169Leu) n.691A>T c.290A>T (p.Gln97Leu) n.737A>T c.206A>T (p.Gln69Leu) n.730A>T n.690A>T | ClinVar gnomAD v4 |
| 1 | g.244863802T>C | CA345496794 | HNRNPU | c.184A>G c.506A>G (p.Gln169Arg) n.691A>G c.290A>G (p.Gln97Arg) n.737A>G c.206A>G (p.Gln69Arg) n.730A>G n.690A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.244863802T>G | CA345496796 | HNRNPU | c.184A>C c.506A>C (p.Gln169Pro) n.691A>C c.290A>C (p.Gln97Pro) n.737A>C c.206A>C (p.Gln69Pro) n.730A>C n.690A>C | dbSNP |
| 1 | g.244863802T= | CA1231007451 | HNRNPU | c.184A= c.506A= (p.Gln169=) n.691A= c.290A= (p.Gln97=) n.737A= c.206A= (p.Gln69=) n.730A= n.690A= | |
| 1 | g.244863803G>A | CA345496799 | HNRNPU | c.183C>T c.505C>T (p.Gln169Ter) n.690C>T c.289C>T (p.Gln97Ter) n.736C>T c.205C>T (p.Gln69Ter) n.729C>T n.689C>T | |
| 1 | g.244863803G>C | CA345496801 | HNRNPU | c.183C>G c.505C>G (p.Gln169Glu) n.690C>G c.289C>G (p.Gln97Glu) n.736C>G c.205C>G (p.Gln69Glu) n.729C>G n.689C>G | |
| 1 | g.244863803G>T | CA345496802 | HNRNPU | c.183C>A c.505C>A (p.Gln169Lys) n.690C>A c.289C>A (p.Gln97Lys) n.736C>A c.205C>A (p.Gln69Lys) n.729C>A n.689C>A | gnomAD v4 |
| 1 | g.244863804C>A | CA424402647 | HNRNPU | c.182G>T c.504G>T (p.Thr168=) n.689G>T c.288G>T (p.Thr96=) n.735G>T c.204G>T (p.Thr68=) n.728G>T n.688G>T | |
| 1 | g.244863804C= | CA1231007452 | HNRNPU | c.182G= c.504G= (p.Thr168=) n.689G= c.288G= (p.Thr96=) n.735G= c.204G= (p.Thr68=) n.728G= n.688G= | |
| 1 | g.244863804C>G | CA424402648 | HNRNPU | c.182G>C c.504G>C (p.Thr168=) n.689G>C c.288G>C (p.Thr96=) n.735G>C c.204G>C (p.Thr68=) n.728G>C n.688G>C | |
| 1 | g.244863804C>T | CA424402649 | HNRNPU | c.182G>A c.504G>A (p.Thr168=) n.689G>A c.288G>A (p.Thr96=) n.735G>A c.204G>A (p.Thr68=) n.728G>A n.688G>A | dbSNP gnomAD v2 |
| 1 | g.244863805G>A | CA345496805 | HNRNPU | c.181C>T c.503C>T (p.Thr168Met) n.688C>T c.287C>T (p.Thr96Met) n.734C>T c.203C>T (p.Thr68Met) n.727C>T n.687C>T | ClinVar gnomAD v4 |
| 1 | g.244863805G>C | CA345496807 | HNRNPU | c.181C>G c.503C>G (p.Thr168Arg) n.688C>G c.287C>G (p.Thr96Arg) n.734C>G c.203C>G (p.Thr68Arg) n.727C>G n.687C>G | gnomAD v4 |
| 1 | g.244863805G>T | CA345496809 | HNRNPU | c.181C>A c.503C>A (p.Thr168Lys) n.688C>A c.287C>A (p.Thr96Lys) n.734C>A c.203C>A (p.Thr68Lys) n.727C>A n.687C>A | |
| 1 | g.244863806T>A | CA1486788 | HNRNPU | c.180A>T c.502A>T (p.Thr168Ser) n.687A>T c.286A>T (p.Thr96Ser) n.733A>T c.202A>T (p.Thr68Ser) n.726A>T n.686A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244863806T>C | CA345496813 | HNRNPU | c.180A>G c.502A>G (p.Thr168Ala) n.687A>G c.286A>G (p.Thr96Ala) n.733A>G c.202A>G (p.Thr68Ala) n.726A>G n.686A>G | dbSNP |
| 1 | g.244863806T>G | CA345496815 | HNRNPU | c.180A>C c.502A>C (p.Thr168Pro) n.687A>C c.286A>C (p.Thr96Pro) n.733A>C c.202A>C (p.Thr68Pro) n.726A>C n.686A>C | |
| 1 | g.244863806T= | CA1231007453 | HNRNPU | c.180A= c.502A= (p.Thr168=) n.687A= c.286A= (p.Thr96=) n.733A= c.202A= (p.Thr68=) n.726A= n.686A= | |
| 1 | g.244863807C>A | CA424402652 | HNRNPU | c.179G>T c.501G>T (p.Ala167=) n.686G>T c.285G>T (p.Ala95=) n.732G>T c.201G>T (p.Ala67=) n.725G>T n.685G>T | |
| 1 | g.244863807C>G | CA424402653 | HNRNPU | c.179G>C c.501G>C (p.Ala167=) n.686G>C c.285G>C (p.Ala95=) n.732G>C c.201G>C (p.Ala67=) n.725G>C n.685G>C | |
| 1 | g.244863807C>T | CA424402654 | HNRNPU | c.179G>A c.501G>A (p.Ala167=) n.686G>A c.285G>A (p.Ala95=) n.732G>A c.201G>A (p.Ala67=) n.725G>A n.685G>A | dbSNP |
| 1 | g.244863808G>A | CA1486789 | HNRNPU | c.178C>T c.500C>T (p.Ala167Val) n.685C>T c.284C>T (p.Ala95Val) n.731C>T c.200C>T (p.Ala67Val) n.724C>T n.684C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.244863808G>C | CA345496819 | HNRNPU | c.178C>G c.500C>G (p.Ala167Gly) n.685C>G c.284C>G (p.Ala95Gly) n.731C>G c.200C>G (p.Ala67Gly) n.724C>G n.684C>G | |
| 1 | g.244863808G= | CA1231007454 | HNRNPU | c.178C= c.500C= (p.Ala167=) n.685C= c.284C= (p.Ala95=) n.731C= c.200C= (p.Ala67=) n.724C= n.684C= |