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 |
|---|---|---|---|---|---|
| 17 | g.44352024_44352047del | CA2638210295 | GRN | c.1189_1212del (p.Cys397_Cys404del) c.1136+272_1136+295del (n.1136+272_1136+295del) c.630_653del c.718_741del (p.Cys240_Cys247del) | gnomAD v4 |
| 17 | g.44352023C>A | CA399768106 | GRN | c.1188C>A (p.Cys396Ter) c.1136+271C>A (n.1136+271C>A) c.629C>A c.717C>A (p.Cys239Ter) | |
| 17 | g.44352023C>G | CA399768107 | GRN | c.1188C>G (p.Cys396Trp) c.1136+271C>G (n.1136+271C>G) c.629C>G c.717C>G (p.Cys239Trp) | |
| 17 | g.44352023C>T | CA500622328 | GRN | c.1188C>T (p.Cys396=) c.1136+271C>T (n.1136+271C>T) c.629C>T c.717C>T (p.Cys239=) | gnomAD v4 |
| 17 | g.44352024T>A | CA399768108 | GRN | c.1189T>A (p.Cys397Ser) c.1136+272T>A (n.1136+272T>A) c.630T>A c.718T>A (p.Cys240Ser) | |
| 17 | g.44352024T>C | CA399768109 | GRN | c.1189T>C (p.Cys397Arg) c.1136+272T>C (n.1136+272T>C) c.630T>C c.718T>C (p.Cys240Arg) | |
| 17 | g.44352024T>G | CA399768112 | GRN | c.1189T>G (p.Cys397Gly) c.1136+272T>G (n.1136+272T>G) c.630T>G c.718T>G (p.Cys240Gly) | |
| 17 | g.44352025G>A | CA399768114 | GRN | c.1190G>A (p.Cys397Tyr) c.1136+273G>A (n.1136+273G>A) c.631G>A c.719G>A (p.Cys240Tyr) | gnomAD v4 |
| 17 | g.44352025G>C | CA399768116 | GRN | c.1190G>C (p.Cys397Ser) c.1136+273G>C (n.1136+273G>C) c.631G>C c.719G>C (p.Cys240Ser) | |
| 17 | g.44352025G>T | CA399768118 | GRN | c.1190G>T (p.Cys397Phe) c.1136+273G>T (n.1136+273G>T) c.631G>T c.719G>T (p.Cys240Phe) | |
| 17 | g.44352026C>A | CA399768119 | GRN | c.1191C>A (p.Cys397Ter) c.1136+274C>A (n.1136+274C>A) c.632C>A c.720C>A (p.Cys240Ter) | |
| 17 | g.44352026C>G | CA399768122 | GRN | c.1191C>G (p.Cys397Trp) c.1136+274C>G (n.1136+274C>G) c.632C>G c.720C>G (p.Cys240Trp) | |
| 17 | g.44352026C>T | CA500622329 | GRN | c.1191C>T (p.Cys397=) c.1136+274C>T (n.1136+274C>T) c.632C>T c.720C>T (p.Cys240=) | |
| 17 | g.44352027T>A | CA399768132 | GRN | c.1192T>A (p.Ser398Thr) c.1136+275T>A (n.1136+275T>A) c.633T>A c.721T>A (p.Ser241Thr) | |
| 17 | g.44352027T>C | CA399768129 | GRN | c.1192T>C (p.Ser398Pro) c.1136+275T>C (n.1136+275T>C) c.633T>C c.721T>C (p.Ser241Pro) | |
| 17 | g.44352027T>G | CA399768127 | GRN | c.1192T>G (p.Ser398Ala) c.1136+275T>G (n.1136+275T>G) c.633T>G c.721T>G (p.Ser241Ala) | |
| 17 | g.44352028C>A | CA399768136 | GRN | c.1193C>A (p.Ser398Ter) c.1136+276C>A (n.1136+276C>A) c.634C>A c.722C>A (p.Ser241Ter) | |
| 17 | g.44352028C= | CA2261354465 | GRN | c.1193C= (p.Ser398=) c.1136+276C= (n.1136+276C=) c.634C= c.722C= (p.Ser241=) | |
| 17 | g.44352028C>G | CA399768140 | GRN | c.1193C>G (p.Ser398Trp) c.1136+276C>G (n.1136+276C>G) c.634C>G c.722C>G (p.Ser241Trp) | gnomAD v4 |
| 17 | g.44352028C>T | CA8602141 | GRN | c.1193C>T (p.Ser398Leu) c.1136+276C>T (n.1136+276C>T) c.634C>T c.722C>T (p.Ser241Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.44352029G>A | CA8602142 | GRN | c.1194G>A (p.Ser398=) c.1136+277G>A (n.1136+277G>A) c.635G>A c.723G>A (p.Ser241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44352029G>C | CA500622336 | GRN | c.1194G>C (p.Ser398=) c.1136+277G>C (n.1136+277G>C) c.635G>C c.723G>C (p.Ser241=) | |
| 17 | g.44352029G= | CA2261354466 | GRN | c.1194G= (p.Ser398=) c.1136+277G= (n.1136+277G=) c.635G= c.723G= (p.Ser241=) | |
| 17 | g.44352029G>T | CA500622337 | GRN | c.1194G>T (p.Ser398=) c.1136+277G>T (n.1136+277G>T) c.635G>T c.723G>T (p.Ser241=) | |
| 17 | g.44352030G>A | CA8602143 | GRN | c.1195G>A (p.Asp399Asn) c.1136+278G>A (n.1136+278G>A) c.636G>A c.724G>A (p.Asp242Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44352030G>C | CA399768148 | GRN | c.1195G>C (p.Asp399His) c.1136+278G>C (n.1136+278G>C) c.636G>C c.724G>C (p.Asp242His) | dbSNP |
| 17 | g.44352030G= | CA2261354467 | GRN | c.1195G= (p.Asp399=) c.1136+278G= (n.1136+278G=) c.636G= c.724G= (p.Asp242=) | |
| 17 | g.44352030G>T | CA399768151 | GRN | c.1195G>T (p.Asp399Tyr) c.1136+278G>T (n.1136+278G>T) c.636G>T c.724G>T (p.Asp242Tyr) | gnomAD v4 |
| 17 | g.44352031A>C | CA399768156 | GRN | c.1196A>C (p.Asp399Ala) c.1136+279A>C (n.1136+279A>C) c.637A>C c.725A>C (p.Asp242Ala) | |
| 17 | g.44352031A>G | CA399768158 | GRN | c.1196A>G (p.Asp399Gly) c.1136+279A>G (n.1136+279A>G) c.637A>G c.725A>G (p.Asp242Gly) | |
| 17 | g.44352031A>T | CA399768160 | GRN | c.1196A>T (p.Asp399Val) c.1136+279A>T (n.1136+279A>T) c.637A>T c.725A>T (p.Asp242Val) | |
| 17 | g.44352031_44352032del | CA2695226237 | GRN | c.1196_1197del (p.Asp399AlafsTer14) c.1136+279_1136+280del (n.1136+279_1136+280del) c.637_638del c.725_726del (p.Asp242AlafsTer14) | |
| 17 | g.44352032C>A | CA290926630 | GRN | c.1197C>A (p.Asp399Glu) c.1136+280C>A (n.1136+280C>A) c.638C>A c.726C>A (p.Asp242Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44352032C= | CA2261354468 | GRN | c.1197C= (p.Asp399=) c.1136+280C= (n.1136+280C=) c.638C= c.726C= (p.Asp242=) | |
| 17 | g.44352032C>G | CA399768164 | GRN | c.1197C>G (p.Asp399Glu) c.1136+280C>G (n.1136+280C>G) c.638C>G c.726C>G (p.Asp242Glu) | |
| 17 | g.44352032C>T | CA500622338 | GRN | c.1197C>T (p.Asp399=) c.1136+280C>T (n.1136+280C>T) c.638C>T c.726C>T (p.Asp242=) | |
| 17 | g.44352033C>A | CA399768171 | GRN | c.1198C>A (p.His400Asn) c.1136+281C>A (n.1136+281C>A) c.639C>A c.727C>A (p.His243Asn) | |
| 17 | g.44352033C>G | CA399768173 | GRN | c.1198C>G (p.His400Asp) c.1136+281C>G (n.1136+281C>G) c.639C>G c.727C>G (p.His243Asp) | |
| 17 | g.44352033C>T | CA399768168 | GRN | c.1198C>T (p.His400Tyr) c.1136+281C>T (n.1136+281C>T) c.639C>T c.727C>T (p.His243Tyr) | |
| 17 | g.44352034A>C | CA399768176 | GRN | c.1199A>C (p.His400Pro) c.1136+282A>C (n.1136+282A>C) c.640A>C c.728A>C (p.His243Pro) | |
| 17 | g.44352034A>G | CA399768178 | GRN | c.1199A>G (p.His400Arg) c.1136+282A>G (n.1136+282A>G) c.640A>G c.728A>G (p.His243Arg) | gnomAD v4 |
| 17 | g.44352034A>T | CA399768182 | GRN | c.1199A>T (p.His400Leu) c.1136+282A>T (n.1136+282A>T) c.640A>T c.728A>T (p.His243Leu) | |
| 17 | g.44352035C>A | CA399768183 | GRN | c.1200C>A (p.His400Gln) c.1136+283C>A (n.1136+283C>A) c.641C>A c.729C>A (p.His243Gln) | |
| 17 | g.44352035C= | CA2261354469 | GRN | c.1200C= (p.His400=) c.1136+283C= (n.1136+283C=) c.641C= c.729C= (p.His243=) | |
| 17 | g.44352035C>G | CA399768185 | GRN | c.1200C>G (p.His400Gln) c.1136+283C>G (n.1136+283C>G) c.641C>G c.729C>G (p.His243Gln) | |
| 17 | g.44352035C>T | CA500622341 | GRN | c.1200C>T (p.His400=) c.1136+283C>T (n.1136+283C>T) c.641C>T c.729C>T (p.His243=) | dbSNP gnomAD v2 |
| 17 | g.44352036C>A | CA399768188 | GRN | c.1201C>A (p.Gln401Lys) c.1136+284C>A (n.1136+284C>A) c.642C>A c.730C>A (p.Gln244Lys) | gnomAD v4 |
| 17 | g.44352036C= | CA2261354470 | GRN | c.1201C= (p.Gln401=) c.1136+284C= (n.1136+284C=) c.642C= c.730C= (p.Gln244=) | |
| 17 | g.44352036C>G | CA399768191 | GRN | c.1201C>G (p.Gln401Glu) c.1136+284C>G (n.1136+284C>G) c.642C>G c.730C>G (p.Gln244Glu) | |
| 17 | g.44352036C>T | CA225319 | GRN | c.1201C>T (p.Gln401Ter) c.1136+284C>T (n.1136+284C>T) c.642C>T c.730C>T (p.Gln244Ter) | ClinVar dbSNP |