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 |
|---|---|---|---|---|---|
| 8 | g.43182166_43182181del | CA2573143139 | HGSNAT | c.1034_1049del (p.Ile345SerfsTer5) n.520_535del c.185_200del (p.Ile62SerfsTer5) c.275_290del (p.Ile92SerfsTer5) c.138_153del c.842_857del (p.Ile281SerfsTer5) c.170_185del (p.Ile57SerfsTer5) | ClinVar dbSNP |
| 8 | g.43182174G>A | CA371118355 | HGSNAT | c.1042G>A (p.Val348Met) n.528G>A c.193G>A (p.Val65Met) c.283G>A (p.Val95Met) c.146G>A c.850G>A (p.Val284Met) c.178G>A (p.Val60Met) | ClinVar dbSNP |
| 8 | g.43182174G>C | CA371118356 | HGSNAT | c.1042G>C (p.Val348Leu) n.528G>C c.193G>C (p.Val65Leu) c.283G>C (p.Val95Leu) c.146G>C c.850G>C (p.Val284Leu) c.178G>C (p.Val60Leu) | |
| 8 | g.43182174G= | CA1779774365 | HGSNAT | c.1042G= (p.Val348=) n.528G= c.193G= (p.Val65=) c.283G= (p.Val95=) c.146G= c.850G= (p.Val284=) c.178G= (p.Val60=) | |
| 8 | g.43182174G>T | CA371118357 | HGSNAT | c.1042G>T (p.Val348Leu) n.528G>T c.193G>T (p.Val65Leu) c.283G>T (p.Val95Leu) c.146G>T c.850G>T (p.Val284Leu) c.178G>T (p.Val60Leu) | gnomAD v4 |
| 8 | g.43182174_43182177delinsGTGC | CA1779774366 | HGSNAT | c.1042_1045delinsGTGC (p.Val348=) n.528_531delinsGTGC c.193_196delinsGTGC (p.Val65=) c.283_286delinsGTGC (p.Val95=) c.146_149delinsGTGC c.850_853delinsGTGC (p.Val284=) c.178_181delinsGTGC (p.Val60=) | |
| 8 | g.43182175T>A | CA371118360 | HGSNAT | c.1043T>A (p.Val348Glu) n.529T>A c.194T>A (p.Val65Glu) c.284T>A (p.Val95Glu) c.147T>A c.851T>A (p.Val284Glu) c.179T>A (p.Val60Glu) | |
| 8 | g.43182175T>C | CA371118359 | HGSNAT | c.1043T>C (p.Val348Ala) n.529T>C c.194T>C (p.Val65Ala) c.284T>C (p.Val95Ala) c.147T>C c.851T>C (p.Val284Ala) c.179T>C (p.Val60Ala) | |
| 8 | g.43182175T>G | CA371118358 | HGSNAT | c.1043T>G (p.Val348Gly) n.529T>G c.194T>G (p.Val65Gly) c.284T>G (p.Val95Gly) c.147T>G c.851T>G (p.Val284Gly) c.179T>G (p.Val60Gly) | |
| 8 | g.43182178_43182180del | CA581929242 | HGSNAT | c.1046_1048del (p.Leu349del) n.532_534del c.197_199del (p.Leu66del) c.287_289del (p.Leu96del) c.150_152del c.854_856del (p.Leu285del) c.182_184del (p.Leu61del) | dbSNP gnomAD v2 |
| 8 | g.43182176G>A | CA4736736 | HGSNAT | c.1044G>A (p.Val348=) n.530G>A c.195G>A (p.Val65=) c.285G>A (p.Val95=) c.148G>A c.852G>A (p.Val284=) c.180G>A (p.Val60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43182176G>C | CA460574664 | HGSNAT | c.1044G>C (p.Val348=) n.530G>C c.195G>C (p.Val65=) c.285G>C (p.Val95=) c.148G>C c.852G>C (p.Val284=) c.180G>C (p.Val60=) | |
| 8 | g.43182176G= | CA1779774367 | HGSNAT | c.1044G= (p.Val348=) n.530G= c.195G= (p.Val65=) c.285G= (p.Val95=) c.148G= c.852G= (p.Val284=) c.180G= (p.Val60=) | |
| 8 | g.43182176G>T | CA460574665 | HGSNAT | c.1044G>T (p.Val348=) n.530G>T c.195G>T (p.Val65=) c.285G>T (p.Val95=) c.148G>T c.852G>T (p.Val284=) c.180G>T (p.Val60=) | |
| 8 | g.43182177C>A | CA371118361 | HGSNAT | c.1045C>A (p.Leu349Met) n.531C>A c.196C>A (p.Leu66Met) c.286C>A (p.Leu96Met) c.149C>A c.853C>A (p.Leu285Met) c.181C>A (p.Leu61Met) | |
| 8 | g.43182177C= | CA1779774368 | HGSNAT | c.1045C= (p.Leu349=) n.531C= c.196C= (p.Leu66=) c.286C= (p.Leu96=) c.149C= c.853C= (p.Leu285=) c.181C= (p.Leu61=) | |
| 8 | g.43182177C>G | CA371118362 | HGSNAT | c.1045C>G (p.Leu349Val) n.531C>G c.196C>G (p.Leu66Val) c.286C>G (p.Leu96Val) c.149C>G c.853C>G (p.Leu285Val) c.181C>G (p.Leu61Val) | |
| 8 | g.43182177C>T | CA4736737 | HGSNAT | c.1045C>T (p.Leu349=) n.531C>T c.196C>T (p.Leu66=) c.286C>T (p.Leu96=) c.149C>T c.853C>T (p.Leu285=) c.181C>T (p.Leu61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43182178T>A | CA371118363 | HGSNAT | c.1046T>A (p.Leu349Gln) n.532T>A c.197T>A (p.Leu66Gln) c.287T>A (p.Leu96Gln) c.150T>A c.854T>A (p.Leu285Gln) c.182T>A (p.Leu61Gln) | |
| 8 | g.43182178T>C | CA371118364 | HGSNAT | c.1046T>C (p.Leu349Pro) n.532T>C c.197T>C (p.Leu66Pro) c.287T>C (p.Leu96Pro) c.150T>C c.854T>C (p.Leu285Pro) c.182T>C (p.Leu61Pro) | |
| 8 | g.43182178T>G | CA371118365 | HGSNAT | c.1046T>G (p.Leu349Arg) n.532T>G c.197T>G (p.Leu66Arg) c.287T>G (p.Leu96Arg) c.150T>G c.854T>G (p.Leu285Arg) c.182T>G (p.Leu61Arg) | |
| 8 | g.43182178dup | CA1779774369 | HGSNAT | c.1046dup (p.Gln350AlafsTer19) n.532dup c.197dup (p.Gln67AlafsTer19) c.287dup (p.Gln97AlafsTer19) c.150dup c.854dup (p.Gln286AlafsTer19) c.182dup (p.Gln62AlafsTer19) | dbSNP |
| 8 | g.43182179G>A | CA460574666 | HGSNAT | c.1047G>A (p.Leu349=) n.533G>A c.198G>A (p.Leu66=) c.288G>A (p.Leu96=) c.151G>A c.855G>A (p.Leu285=) c.183G>A (p.Leu61=) | |
| 8 | g.43182179G>C | CA460574667 | HGSNAT | c.1047G>C (p.Leu349=) n.533G>C c.198G>C (p.Leu66=) c.288G>C (p.Leu96=) c.151G>C c.855G>C (p.Leu285=) c.183G>C (p.Leu61=) | |
| 8 | g.43182179G>T | CA460574668 | HGSNAT | c.1047G>T (p.Leu349=) n.533G>T c.198G>T (p.Leu66=) c.288G>T (p.Leu96=) c.151G>T c.855G>T (p.Leu285=) c.183G>T (p.Leu61=) | |
| 8 | g.43182180C>A | CA371118366 | HGSNAT | c.1048C>A (p.Gln350Lys) n.534C>A c.199C>A (p.Gln67Lys) c.289C>A (p.Gln97Lys) c.152C>A c.856C>A (p.Gln286Lys) c.184C>A (p.Gln62Lys) | |
| 8 | g.43182180C= | CA1779774370 | HGSNAT | c.1048C= (p.Gln350=) n.534C= c.199C= (p.Gln67=) c.289C= (p.Gln97=) c.152C= c.856C= (p.Gln286=) c.184C= (p.Gln62=) | |
| 8 | g.43182180C>G | CA371118367 | HGSNAT | c.1048C>G (p.Gln350Glu) n.534C>G c.199C>G (p.Gln67Glu) c.289C>G (p.Gln97Glu) c.152C>G c.856C>G (p.Gln286Glu) c.184C>G (p.Gln62Glu) | |
| 8 | g.43182180C>T | CA4736738 | HGSNAT | c.1048C>T (p.Gln350Ter) n.534C>T c.199C>T (p.Gln67Ter) c.289C>T (p.Gln97Ter) c.152C>T c.856C>T (p.Gln286Ter) c.184C>T (p.Gln62Ter) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.43182181A>C | CA371118368 | HGSNAT | c.1049A>C (p.Gln350Pro) n.535A>C c.200A>C (p.Gln67Pro) c.290A>C (p.Gln97Pro) c.153A>C c.857A>C (p.Gln286Pro) c.185A>C (p.Gln62Pro) | |
| 8 | g.43182181A>G | CA371118369 | HGSNAT | c.1049A>G (p.Gln350Arg) n.535A>G c.200A>G (p.Gln67Arg) c.290A>G (p.Gln97Arg) c.153A>G c.857A>G (p.Gln286Arg) c.185A>G (p.Gln62Arg) | |
| 8 | g.43182181A>T | CA371118370 | HGSNAT | c.1049A>T (p.Gln350Leu) n.535A>T c.200A>T (p.Gln67Leu) c.290A>T (p.Gln97Leu) c.153A>T c.857A>T (p.Gln286Leu) c.185A>T (p.Gln62Leu) | COSMIC COSMIC |
| 8 | g.43182182G>A | CA460574669 | HGSNAT | c.1050G>A (p.Gln350=) n.536G>A c.201G>A (p.Gln67=) c.291G>A (p.Gln97=) c.154G>A c.858G>A (p.Gln286=) c.186G>A (p.Gln62=) | ClinVar dbSNP |
| 8 | g.43182182G>C | CA371118372 | HGSNAT | c.1050G>C (p.Gln350His) n.536G>C c.201G>C (p.Gln67His) c.291G>C (p.Gln97His) c.154G>C c.858G>C (p.Gln286His) c.186G>C (p.Gln62His) | gnomAD v4 |
| 8 | g.43182182G>T | CA371118371 | HGSNAT | c.1050G>T (p.Gln350His) n.536G>T c.201G>T (p.Gln67His) c.291G>T (p.Gln97His) c.154G>T c.858G>T (p.Gln286His) c.186G>T (p.Gln62His) | |
| 8 | g.43182183C>A | CA460574670 | HGSNAT | c.1051C>A (p.Arg351=) n.537C>A c.202C>A (p.Arg68=) c.292C>A (p.Arg98=) c.155C>A c.859C>A (p.Arg287=) c.187C>A (p.Arg63=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43182183C= | CA1779774371 | HGSNAT | c.1051C= (p.Arg351=) n.537C= c.202C= (p.Arg68=) c.292C= (p.Arg98=) c.155C= c.859C= (p.Arg287=) c.187C= (p.Arg63=) | |
| 8 | g.43182183C>G | CA371118373 | HGSNAT | c.1051C>G (p.Arg351Gly) n.537C>G c.202C>G (p.Arg68Gly) c.292C>G (p.Arg98Gly) c.155C>G c.859C>G (p.Arg287Gly) c.187C>G (p.Arg63Gly) | dbSNP |
| 8 | g.43182183C>T | CA4736739 | HGSNAT | c.1051C>T (p.Arg351Ter) n.537C>T c.202C>T (p.Arg68Ter) c.292C>T (p.Arg98Ter) c.155C>T c.859C>T (p.Arg287Ter) c.187C>T (p.Arg63Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43182184G>A | CA371118374 | HGSNAT | c.1052G>A (p.Arg351Gln) n.538G>A c.203G>A (p.Arg68Gln) c.293G>A (p.Arg98Gln) c.156G>A c.860G>A (p.Arg287Gln) c.188G>A (p.Arg63Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 8 | g.43182184G>C | CA371118375 | HGSNAT | c.1052G>C (p.Arg351Pro) n.538G>C c.203G>C (p.Arg68Pro) c.293G>C (p.Arg98Pro) c.156G>C c.860G>C (p.Arg287Pro) c.188G>C (p.Arg63Pro) | |
| 8 | g.43182184G= | CA1779774372 | HGSNAT | c.1052G= (p.Arg351=) n.538G= c.203G= (p.Arg68=) c.293G= (p.Arg98=) c.156G= c.860G= (p.Arg287=) c.188G= (p.Arg63=) | |
| 8 | g.43182184G>T | CA371118376 | HGSNAT | c.1052G>T (p.Arg351Leu) n.538G>T c.203G>T (p.Arg68Leu) c.293G>T (p.Arg98Leu) c.156G>T c.860G>T (p.Arg287Leu) c.188G>T (p.Arg63Leu) | ClinVar dbSNP |
| 8 | g.43182185A>C | CA460574671 | HGSNAT | c.1053A>C (p.Arg351=) n.539A>C c.204A>C (p.Arg68=) c.294A>C (p.Arg98=) c.157A>C c.861A>C (p.Arg287=) c.189A>C (p.Arg63=) | |
| 8 | g.43182185A>G | CA460574672 | HGSNAT | c.1053A>G (p.Arg351=) n.539A>G c.204A>G (p.Arg68=) c.294A>G (p.Arg98=) c.157A>G c.861A>G (p.Arg287=) c.189A>G (p.Arg63=) | |
| 8 | g.43182185A>T | CA460574673 | HGSNAT | c.1053A>T (p.Arg351=) n.539A>T c.204A>T (p.Arg68=) c.294A>T (p.Arg98=) c.157A>T c.861A>T (p.Arg287=) c.189A>T (p.Arg63=) | gnomAD v4 |
| 8 | g.43182186T>A | CA371118377 | HGSNAT | c.1054T>A (p.Leu352Met) n.540T>A c.205T>A (p.Leu69Met) c.295T>A (p.Leu99Met) c.158T>A c.862T>A (p.Leu288Met) c.190T>A (p.Leu64Met) | |
| 8 | g.43182186T>C | CA460574674 | HGSNAT | c.1054T>C (p.Leu352=) n.540T>C c.205T>C (p.Leu69=) c.295T>C (p.Leu99=) c.158T>C c.862T>C (p.Leu288=) c.190T>C (p.Leu64=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43182186T>G | CA371118378 | HGSNAT | c.1054T>G (p.Leu352Val) n.540T>G c.205T>G (p.Leu69Val) c.295T>G (p.Leu99Val) c.158T>G c.862T>G (p.Leu288Val) c.190T>G (p.Leu64Val) | |
| 8 | g.43182186T= | CA1779774373 | HGSNAT | c.1054T= (p.Leu352=) n.540T= c.205T= (p.Leu69=) c.295T= (p.Leu99=) c.158T= c.862T= (p.Leu288=) c.190T= (p.Leu64=) |