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.155294532_155294539del | CA2586967535 | PKLR | c.909_916del (p.Glu304ArgfsTer9) c.816_823del (p.Glu273ArgfsTer9) c.1068_1075del (p.Glu357ArgfsTer9) c.717_724del (p.Glu240ArgfsTer9) | |
| 1 | g.155294534_155294558del | CA2648269318 | PKLR | c.890_914del (p.Val297AspfsTer16) c.797_821del (p.Val266AspfsTer16) c.1049_1073del (p.Val350AspfsTer16) c.698_722del (p.Val233AspfsTer16) | gnomAD v4 |
| 1 | g.155294539G>A | CA1144181 | PKLR | c.908C>T (p.Pro303Leu) c.815C>T (p.Pro272Leu) c.1067C>T (p.Pro356Leu) c.716C>T (p.Pro239Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.155294539G>C | CA342753928 | PKLR | c.908C>G (p.Pro303Arg) c.815C>G (p.Pro272Arg) c.1067C>G (p.Pro356Arg) c.716C>G (p.Pro239Arg) | |
| 1 | g.155294539G= | CA1148396536 | PKLR | c.908C= (p.Pro303=) c.815C= (p.Pro272=) c.1067C= (p.Pro356=) c.716C= (p.Pro239=) | |
| 1 | g.155294539G>T | CA342753925 | PKLR | c.908C>A (p.Pro303Gln) c.815C>A (p.Pro272Gln) c.1067C>A (p.Pro356Gln) c.716C>A (p.Pro239Gln) | dbSNP |
| 1 | g.155294539_155294540del | CA2586967536 | PKLR | c.907_908del (p.Pro303GlyfsTer12) c.814_815del (p.Pro272GlyfsTer12) c.1066_1067del (p.Pro356GlyfsTer12) c.715_716del (p.Pro239GlyfsTer12) | |
| 1 | g.155294540G>A | CA342753930 | PKLR | c.907C>T (p.Pro303Ser) c.814C>T (p.Pro272Ser) c.1066C>T (p.Pro356Ser) c.715C>T (p.Pro239Ser) | dbSNP |
| 1 | g.155294540G>C | CA1144182 | PKLR | c.907C>G (p.Pro303Ala) c.814C>G (p.Pro272Ala) c.1066C>G (p.Pro356Ala) c.715C>G (p.Pro239Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155294540G= | CA1143518247 | PKLR | c.907C= (p.Pro303=) c.814C= (p.Pro272=) c.1066C= (p.Pro356=) c.715C= (p.Pro239=) | |
| 1 | g.155294540G>T | CA342753933 | PKLR | c.907C>A (p.Pro303Thr) c.814C>A (p.Pro272Thr) c.1066C>A (p.Pro356Thr) c.715C>A (p.Pro239Thr) | |
| 1 | g.155294541A= | CA1200112202 | PKLR | c.906T= (p.Gly302=) c.813T= (p.Gly271=) c.1065T= (p.Gly355=) c.714T= (p.Gly238=) | |
| 1 | g.155294541A>C | CA421245542 | PKLR | c.906T>G (p.Gly302=) c.813T>G (p.Gly271=) c.1065T>G (p.Gly355=) c.714T>G (p.Gly238=) | |
| 1 | g.155294541A>G | CA1144183 | PKLR | c.906T>C (p.Gly302=) c.813T>C (p.Gly271=) c.1065T>C (p.Gly355=) c.714T>C (p.Gly238=) | dbSNP ExAC gnomAD v2 |
| 1 | g.155294541A>T | CA421245543 | PKLR | c.906T>A (p.Gly302=) c.813T>A (p.Gly271=) c.1065T>A (p.Gly355=) c.714T>A (p.Gly238=) | |
| 1 | g.155294542C>A | CA342753937 | PKLR | c.905G>T (p.Gly302Val) c.812G>T (p.Gly271Val) c.1064G>T (p.Gly355Val) c.713G>T (p.Gly238Val) | |
| 1 | g.155294542C= | CA1200112203 | PKLR | c.905G= (p.Gly302=) c.812G= (p.Gly271=) c.1064G= (p.Gly355=) c.713G= (p.Gly238=) | |
| 1 | g.155294542C>G | CA342753939 | PKLR | c.905G>C (p.Gly302Ala) c.812G>C (p.Gly271Ala) c.1064G>C (p.Gly355Ala) c.713G>C (p.Gly238Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.155294542C>T | CA342753940 | PKLR | c.905G>A (p.Gly302Asp) c.812G>A (p.Gly271Asp) c.1064G>A (p.Gly355Asp) c.713G>A (p.Gly238Asp) | gnomAD v4 |
| 1 | g.155294543C>A | CA342753943 | PKLR | c.904G>T (p.Gly302Cys) c.811G>T (p.Gly271Cys) c.1063G>T (p.Gly355Cys) c.712G>T (p.Gly238Cys) | |
| 1 | g.155294543C>G | CA342753945 | PKLR | c.904G>C (p.Gly302Arg) c.811G>C (p.Gly271Arg) c.1063G>C (p.Gly355Arg) c.712G>C (p.Gly238Arg) | |
| 1 | g.155294543C>T | CA342753946 | PKLR | c.904G>A (p.Gly302Ser) c.811G>A (p.Gly271Ser) c.1063G>A (p.Gly355Ser) c.712G>A (p.Gly238Ser) | |
| 1 | g.155294544C>A | CA421245545 | PKLR | c.903G>T (p.Leu301=) c.810G>T (p.Leu270=) c.1062G>T (p.Leu354=) c.711G>T (p.Leu237=) | |
| 1 | g.155294544C= | CA1200112204 | PKLR | c.903G= (p.Leu301=) c.810G= (p.Leu270=) c.1062G= (p.Leu354=) c.711G= (p.Leu237=) | |
| 1 | g.155294544C>G | CA421245546 | PKLR | c.903G>C (p.Leu301=) c.810G>C (p.Leu270=) c.1062G>C (p.Leu354=) c.711G>C (p.Leu237=) | gnomAD v4 |
| 1 | g.155294544C>T | CA1144184 | PKLR | c.903G>A (p.Leu301=) c.810G>A (p.Leu270=) c.1062G>A (p.Leu354=) c.711G>A (p.Leu237=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155294545A>C | CA342753953 | PKLR | c.902T>G (p.Leu301Arg) c.809T>G (p.Leu270Arg) c.1061T>G (p.Leu354Arg) c.710T>G (p.Leu237Arg) | |
| 1 | g.155294545A>G | CA342753955 | PKLR | c.902T>C (p.Leu301Pro) c.809T>C (p.Leu270Pro) c.1061T>C (p.Leu354Pro) c.710T>C (p.Leu237Pro) | COSMIC |
| 1 | g.155294545A>T | CA342753951 | PKLR | c.902T>A (p.Leu301Gln) c.809T>A (p.Leu270Gln) c.1061T>A (p.Leu354Gln) c.710T>A (p.Leu237Gln) | |
| 1 | g.155294546G>A | CA421245549 | PKLR | c.901C>T (p.Leu301=) c.808C>T (p.Leu270=) c.1060C>T (p.Leu354=) c.709C>T (p.Leu237=) | |
| 1 | g.155294546G>C | CA342753957 | PKLR | c.901C>G (p.Leu301Val) c.808C>G (p.Leu270Val) c.1060C>G (p.Leu354Val) c.709C>G (p.Leu237Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.155294546G= | CA1200112205 | PKLR | c.901C= (p.Leu301=) c.808C= (p.Leu270=) c.1060C= (p.Leu354=) c.709C= (p.Leu237=) | |
| 1 | g.155294546G>T | CA342753959 | PKLR | c.901C>A (p.Leu301Met) c.808C>A (p.Leu270Met) c.1060C>A (p.Leu354Met) c.709C>A (p.Leu237Met) | |
| 1 | g.155294547A>C | CA421245551 | PKLR | c.900T>G (p.Ala300=) c.807T>G (p.Ala269=) c.1059T>G (p.Ala353=) c.708T>G (p.Ala236=) | |
| 1 | g.155294547A>G | CA421245552 | PKLR | c.900T>C (p.Ala300=) c.807T>C (p.Ala269=) c.1059T>C (p.Ala353=) c.708T>C (p.Ala236=) | |
| 1 | g.155294547A>T | CA421245553 | PKLR | c.900T>A (p.Ala300=) c.807T>A (p.Ala269=) c.1059T>A (p.Ala353=) c.708T>A (p.Ala236=) | |
| 1 | g.155294548G>A | CA342753961 | PKLR | c.899C>T (p.Ala300Val) c.806C>T (p.Ala269Val) c.1058C>T (p.Ala353Val) c.707C>T (p.Ala236Val) | |
| 1 | g.155294548G>C | CA342753963 | PKLR | c.899C>G (p.Ala300Gly) c.806C>G (p.Ala269Gly) c.1058C>G (p.Ala353Gly) c.707C>G (p.Ala236Gly) | |
| 1 | g.155294548G>T | CA342753965 | PKLR | c.899C>A (p.Ala300Asp) c.806C>A (p.Ala269Asp) c.1058C>A (p.Ala353Asp) c.707C>A (p.Ala236Asp) | |
| 1 | g.155294549C>A | CA342753971 | PKLR | c.898G>T (p.Ala300Ser) c.805G>T (p.Ala269Ser) c.1057G>T (p.Ala353Ser) c.706G>T (p.Ala236Ser) | |
| 1 | g.155294549C>G | CA342753967 | PKLR | c.898G>C (p.Ala300Pro) c.805G>C (p.Ala269Pro) c.1057G>C (p.Ala353Pro) c.706G>C (p.Ala236Pro) | |
| 1 | g.155294549C>T | CA342753969 | PKLR | c.898G>A (p.Ala300Thr) c.805G>A (p.Ala269Thr) c.1057G>A (p.Ala353Thr) c.706G>A (p.Ala236Thr) | |
| 1 | g.155294550A>C | CA421245556 | PKLR | c.897T>G (p.Ala299=) c.804T>G (p.Ala268=) c.1056T>G (p.Ala352=) c.705T>G (p.Ala235=) | |
| 1 | g.155294550A>G | CA421245557 | PKLR | c.897T>C (p.Ala299=) c.804T>C (p.Ala268=) c.1056T>C (p.Ala352=) c.705T>C (p.Ala235=) | |
| 1 | g.155294550A>T | CA421245554 | PKLR | c.897T>A (p.Ala299=) c.804T>A (p.Ala268=) c.1056T>A (p.Ala352=) c.705T>A (p.Ala235=) | |
| 1 | g.155294551G>A | CA342753973 | PKLR | c.896C>T (p.Ala299Val) c.803C>T (p.Ala268Val) c.1055C>T (p.Ala352Val) c.704C>T (p.Ala235Val) | gnomAD v4 |
| 1 | g.155294551G>C | CA342753975 | PKLR | c.896C>G (p.Ala299Gly) c.803C>G (p.Ala268Gly) c.1055C>G (p.Ala352Gly) c.704C>G (p.Ala235Gly) | |
| 1 | g.155294551G= | CA1200112206 | PKLR | c.896C= (p.Ala299=) c.803C= (p.Ala268=) c.1055C= (p.Ala352=) c.704C= (p.Ala235=) | |
| 1 | g.155294551G>T | CA1144185 | PKLR | c.896C>A (p.Ala299Asp) c.803C>A (p.Ala268Asp) c.1055C>A (p.Ala352Asp) c.704C>A (p.Ala235Asp) | dbSNP ExAC gnomAD v2 |
| 1 | g.155294552C>A | CA342753979 | PKLR | c.895G>T (p.Ala299Ser) c.802G>T (p.Ala268Ser) c.1054G>T (p.Ala352Ser) c.703G>T (p.Ala235Ser) |