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.43182170_43182171insTGTCCT | CA2687155670 | HGSNAT | c.1038_1039insTGTCCT (p.Pro346_Gly347insCysPro) n.524_525insTGTCCT c.189_190insTGTCCT (p.Pro63_Gly64insCysPro) c.279_280insTGTCCT (p.Pro93_Gly94insCysPro) c.142_143insTGTCCT c.846_847insTGTCCT (p.Pro282_Gly283insCysPro) c.174_175insTGTCCT (p.Pro58_Gly59insCysPro) | gnomAD v4 |
| 8 | g.43182168C>A | CA371118345 | HGSNAT | c.1036C>A (p.Pro346Thr) n.522C>A c.187C>A (p.Pro63Thr) c.277C>A (p.Pro93Thr) c.140C>A c.844C>A (p.Pro282Thr) c.172C>A (p.Pro58Thr) | |
| 8 | g.43182168C>G | CA371118346 | HGSNAT | c.1036C>G (p.Pro346Ala) n.522C>G c.187C>G (p.Pro63Ala) c.277C>G (p.Pro93Ala) c.140C>G c.844C>G (p.Pro282Ala) c.172C>G (p.Pro58Ala) | |
| 8 | g.43182168C>T | CA371118347 | HGSNAT | c.1036C>T (p.Pro346Ser) n.522C>T c.187C>T (p.Pro63Ser) c.277C>T (p.Pro93Ser) c.140C>T c.844C>T (p.Pro282Ser) c.172C>T (p.Pro58Ser) | COSMIC COSMIC |
| 8 | g.43182169C>A | CA371118348 | HGSNAT | c.1037C>A (p.Pro346His) n.523C>A c.188C>A (p.Pro63His) c.278C>A (p.Pro93His) c.141C>A c.845C>A (p.Pro282His) c.173C>A (p.Pro58His) | |
| 8 | g.43182169C>G | CA371118350 | HGSNAT | c.1037C>G (p.Pro346Arg) n.523C>G c.188C>G (p.Pro63Arg) c.278C>G (p.Pro93Arg) c.141C>G c.845C>G (p.Pro282Arg) c.173C>G (p.Pro58Arg) | |
| 8 | g.43182169C>T | CA371118349 | HGSNAT | c.1037C>T (p.Pro346Leu) n.523C>T c.188C>T (p.Pro63Leu) c.278C>T (p.Pro93Leu) c.141C>T c.845C>T (p.Pro282Leu) c.173C>T (p.Pro58Leu) | |
| 8 | g.43182170T>A | CA460574658 | HGSNAT | c.1038T>A (p.Pro346=) n.524T>A c.189T>A (p.Pro63=) c.279T>A (p.Pro93=) c.142T>A c.846T>A (p.Pro282=) c.174T>A (p.Pro58=) | |
| 8 | g.43182170T>C | CA460574659 | HGSNAT | c.1038T>C (p.Pro346=) n.524T>C c.189T>C (p.Pro63=) c.279T>C (p.Pro93=) c.142T>C c.846T>C (p.Pro282=) c.174T>C (p.Pro58=) | |
| 8 | g.43182170T>G | CA460574660 | HGSNAT | c.1038T>G (p.Pro346=) n.524T>G c.189T>G (p.Pro63=) c.279T>G (p.Pro93=) c.142T>G c.846T>G (p.Pro282=) c.174T>G (p.Pro58=) | |
| 8 | g.43182171G>A | CA371118351 | HGSNAT | c.1039G>A (p.Gly347Ser) n.525G>A c.190G>A (p.Gly64Ser) c.280G>A (p.Gly94Ser) c.143G>A c.847G>A (p.Gly283Ser) c.175G>A (p.Gly59Ser) | |
| 8 | g.43182171G>C | CA371118352 | HGSNAT | c.1039G>C (p.Gly347Arg) n.525G>C c.190G>C (p.Gly64Arg) c.280G>C (p.Gly94Arg) c.143G>C c.847G>C (p.Gly283Arg) c.175G>C (p.Gly59Arg) | |
| 8 | g.43182171G>T | CA371118353 | HGSNAT | c.1039G>T (p.Gly347Cys) n.525G>T c.190G>T (p.Gly64Cys) c.280G>T (p.Gly94Cys) c.143G>T c.847G>T (p.Gly283Cys) c.175G>T (p.Gly59Cys) | |
| 8 | g.43182172G>A | CA4736735 | HGSNAT | c.1040G>A (p.Gly347Asp) n.526G>A c.191G>A (p.Gly64Asp) c.281G>A (p.Gly94Asp) c.144G>A c.848G>A (p.Gly283Asp) c.176G>A (p.Gly59Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43182172G>C | CA176069376 | HGSNAT | c.1040G>C (p.Gly347Ala) n.526G>C c.191G>C (p.Gly64Ala) c.281G>C (p.Gly94Ala) c.144G>C c.848G>C (p.Gly283Ala) c.176G>C (p.Gly59Ala) | dbSNP |
| 8 | g.43182172G= | CA1779774364 | HGSNAT | c.1040G= (p.Gly347=) n.526G= c.191G= (p.Gly64=) c.281G= (p.Gly94=) c.144G= c.848G= (p.Gly283=) c.176G= (p.Gly59=) | |
| 8 | g.43182172G>T | CA371118354 | HGSNAT | c.1040G>T (p.Gly347Val) n.526G>T c.191G>T (p.Gly64Val) c.281G>T (p.Gly94Val) c.144G>T c.848G>T (p.Gly283Val) c.176G>T (p.Gly59Val) | |
| 8 | g.43182173T>A | CA460574661 | HGSNAT | c.1041T>A (p.Gly347=) n.527T>A c.192T>A (p.Gly64=) c.282T>A (p.Gly94=) c.145T>A c.849T>A (p.Gly283=) c.177T>A (p.Gly59=) | |
| 8 | g.43182173T>C | CA460574663 | HGSNAT | c.1041T>C (p.Gly347=) n.527T>C c.192T>C (p.Gly64=) c.282T>C (p.Gly94=) c.145T>C c.849T>C (p.Gly283=) c.177T>C (p.Gly59=) | |
| 8 | g.43182173T>G | CA460574662 | HGSNAT | c.1041T>G (p.Gly347=) n.527T>G c.192T>G (p.Gly64=) c.282T>G (p.Gly94=) c.145T>G c.849T>G (p.Gly283=) c.177T>G (p.Gly59=) | |
| 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) |