WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.90404511_90404512delinsAC | CA2579773095 | CALM1 | c.418_419delinsAC (p.Glu140Thr) c.310_311delinsAC (p.Glu104Thr) c.421_422delinsAC (p.Glu141Thr) c.290_291delinsAC (n.290_291delinsAC) c.*59_*60delinsAC (n.*59_*60delinsAC) n.2548_2549delinsAC n.470_471delinsAC n.344_345delinsAC c.220_221delinsAC (p.Glu74Thr) | |
| 14 | g.90404511_90404512delinsAG | CA2579774061 | CALM1 | c.418_419delinsAG (p.Glu140Arg) c.310_311delinsAG (p.Glu104Arg) c.421_422delinsAG (p.Glu141Arg) c.290_291delinsAG (n.290_291delinsAG) c.*59_*60delinsAG (n.*59_*60delinsAG) n.2548_2549delinsAG n.470_471delinsAG n.344_345delinsAG c.220_221delinsAG (p.Glu74Arg) | |
| 14 | g.90404511_90404512delinsAT | CA2579772562 | CALM1 | c.418_419delinsAT (p.Glu140Ile) c.310_311delinsAT (p.Glu104Ile) c.421_422delinsAT (p.Glu141Ile) c.290_291delinsAT (n.290_291delinsAT) c.*59_*60delinsAT (n.*59_*60delinsAT) n.2548_2549delinsAT n.470_471delinsAT n.344_345delinsAT c.220_221delinsAT (p.Glu74Ile) | |
| 14 | g.90404511_90404512delinsTG | CA2579770849 | CALM1 | c.418_419delinsTG (p.Glu140Ter) c.310_311delinsTG (p.Glu104Ter) c.421_422delinsTG (p.Glu141Ter) c.290_291delinsTG (n.290_291delinsTG) c.*59_*60delinsTG (n.*59_*60delinsTG) n.2548_2549delinsTG n.470_471delinsTG n.344_345delinsTG c.220_221delinsTG (p.Glu74Ter) | |
| 14 | g.90404511_90404512delinsTT | CA2579770723 | CALM1 | c.418_419delinsTT (p.Glu140Leu) c.310_311delinsTT (p.Glu104Leu) c.421_422delinsTT (p.Glu141Leu) c.290_291delinsTT (n.290_291delinsTT) c.*59_*60delinsTT (n.*59_*60delinsTT) n.2548_2549delinsTT n.470_471delinsTT n.344_345delinsTT c.220_221delinsTT (p.Glu74Leu) | |
| 14 | g.90404511_90404513delinsAAC | CA2579770468 | CALM1 | c.418_420delinsAAC (p.Glu140Asn) c.310_312delinsAAC (p.Glu104Asn) c.421_423delinsAAC (p.Glu141Asn) c.290_292delinsAAC (n.290_292delinsAAC) c.*59_*61delinsAAC (n.*59_*61delinsAAC) n.2548_2550delinsAAC n.470_472delinsAAC n.344_346delinsAAC c.220_222delinsAAC (p.Glu74Asn) | |
| 14 | g.90404511_90404513delinsAAG | CA2579773437 | CALM1 | c.418_420delinsAAG (p.Glu140Lys) c.310_312delinsAAG (p.Glu104Lys) c.421_423delinsAAG (p.Glu141Lys) c.290_292delinsAAG (n.290_292delinsAAG) c.*59_*61delinsAAG (n.*59_*61delinsAAG) n.2548_2550delinsAAG n.470_472delinsAAG n.344_346delinsAAG c.220_222delinsAAG (p.Glu74Lys) | |
| 14 | g.90404511_90404513delinsAAT | CA2579770999 | CALM1 | c.418_420delinsAAT (p.Glu140Asn) c.310_312delinsAAT (p.Glu104Asn) c.421_423delinsAAT (p.Glu141Asn) c.290_292delinsAAT (n.290_292delinsAAT) c.*59_*61delinsAAT (n.*59_*61delinsAAT) n.2548_2550delinsAAT n.470_472delinsAAT n.344_346delinsAAT c.220_222delinsAAT (p.Glu74Asn) | |
| 14 | g.90404511_90404513delinsACT | CA2579770424 | CALM1 | c.418_420delinsACT (p.Glu140Thr) c.310_312delinsACT (p.Glu104Thr) c.421_423delinsACT (p.Glu141Thr) c.290_292delinsACT (n.290_292delinsACT) c.*59_*61delinsACT (n.*59_*61delinsACT) n.2548_2550delinsACT n.470_472delinsACT n.344_346delinsACT c.220_222delinsACT (p.Glu74Thr) | |
| 14 | g.90404511_90404513delinsATG | CA2579772273 | CALM1 | c.418_420delinsATG (p.Glu140Met) c.310_312delinsATG (p.Glu104Met) c.421_423delinsATG (p.Glu141Met) c.290_292delinsATG (n.290_292delinsATG) c.*59_*61delinsATG (n.*59_*61delinsATG) n.2548_2550delinsATG n.470_472delinsATG n.344_346delinsATG c.220_222delinsATG (p.Glu74Met) | |
| 14 | g.90404511_90404513delinsATT | CA2579770390 | CALM1 | c.418_420delinsATT (p.Glu140Ile) c.310_312delinsATT (p.Glu104Ile) c.421_423delinsATT (p.Glu141Ile) c.290_292delinsATT (n.290_292delinsATT) c.*59_*61delinsATT (n.*59_*61delinsATT) n.2548_2550delinsATT n.470_472delinsATT n.344_346delinsATT c.220_222delinsATT (p.Glu74Ile) | |
| 14 | g.90404511_90404513delinsCAG | CA2579772438 | CALM1 | c.418_420delinsCAG (p.Glu140Gln) c.310_312delinsCAG (p.Glu104Gln) c.421_423delinsCAG (p.Glu141Gln) c.290_292delinsCAG (n.290_292delinsCAG) c.*59_*61delinsCAG (n.*59_*61delinsCAG) n.2548_2550delinsCAG n.470_472delinsCAG n.344_346delinsCAG c.220_222delinsCAG (p.Glu74Gln) | |
| 14 | g.90404511_90404513delinsCAT | CA2579774104 | CALM1 | c.418_420delinsCAT (p.Glu140His) c.310_312delinsCAT (p.Glu104His) c.421_423delinsCAT (p.Glu141His) c.290_292delinsCAT (n.290_292delinsCAT) c.*59_*61delinsCAT (n.*59_*61delinsCAT) n.2548_2550delinsCAT n.470_472delinsCAT n.344_346delinsCAT c.220_222delinsCAT (p.Glu74His) | |
| 14 | g.90404511_90404513delinsTAG | CA2579774274 | CALM1 | c.418_420delinsTAG (p.Glu140Ter) c.310_312delinsTAG (p.Glu104Ter) c.421_423delinsTAG (p.Glu141Ter) c.290_292delinsTAG (n.290_292delinsTAG) c.*59_*61delinsTAG (n.*59_*61delinsTAG) n.2548_2550delinsTAG n.470_472delinsTAG n.344_346delinsTAG c.220_222delinsTAG (p.Glu74Ter) | |
| 14 | g.90404511_90404513delinsTAT | CA2579771561 | CALM1 | c.418_420delinsTAT (p.Glu140Tyr) c.310_312delinsTAT (p.Glu104Tyr) c.421_423delinsTAT (p.Glu141Tyr) c.290_292delinsTAT (n.290_292delinsTAT) c.*59_*61delinsTAT (n.*59_*61delinsTAT) n.2548_2550delinsTAT n.470_472delinsTAT n.344_346delinsTAT c.220_222delinsTAT (p.Glu74Tyr) | |
| 14 | g.90404511_90404513delinsTTG | CA2579773720 | CALM1 | c.418_420delinsTTG (p.Glu140Leu) c.310_312delinsTTG (p.Glu104Leu) c.421_423delinsTTG (p.Glu141Leu) c.290_292delinsTTG (n.290_292delinsTTG) c.*59_*61delinsTTG (n.*59_*61delinsTTG) n.2548_2550delinsTTG n.470_472delinsTTG n.344_346delinsTTG c.220_222delinsTTG (p.Glu74Leu) | |
| 14 | g.90404511_90404513delinsTTT | CA2579772143 | CALM1 | c.418_420delinsTTT (p.Glu140Phe) c.310_312delinsTTT (p.Glu104Phe) c.421_423delinsTTT (p.Glu141Phe) c.290_292delinsTTT (n.290_292delinsTTT) c.*59_*61delinsTTT (n.*59_*61delinsTTT) n.2548_2550delinsTTT n.470_472delinsTTT n.344_346delinsTTT c.220_222delinsTTT (p.Glu74Phe) | |
| 14 | g.90404512A= | CA2154484214 | CALM1 | c.419A= (p.Glu140=) c.311A= (p.Glu104=) c.422A= (p.Glu141=) c.291A= (n.291A=) c.*60A= (n.*60A=) n.2549A= n.471A= n.345A= c.221A= (p.Glu74=) | |
| 14 | g.90404512A>C | CA390690413 | CALM1 | c.419A>C (p.Glu140Ala) c.311A>C (p.Glu104Ala) c.422A>C (p.Glu141Ala) c.291A>C (n.291A>C) c.*60A>C (n.*60A>C) n.2549A>C n.471A>C n.345A>C c.221A>C (p.Glu74Ala) | |
| 14 | g.90404512A>G | CA390690414 | CALM1 | c.419A>G (p.Glu140Gly) c.311A>G (p.Glu104Gly) c.422A>G (p.Glu141Gly) c.291A>G (n.291A>G) c.*60A>G (n.*60A>G) n.2549A>G n.471A>G n.345A>G c.221A>G (p.Glu74Gly) | |
| 14 | g.90404512A>T | CA16619892 | CALM1 | c.419A>T (p.Glu140Val) c.311A>T (p.Glu104Val) c.422A>T (p.Glu141Val) c.291A>T (n.291A>T) c.*60A>T (n.*60A>T) n.2549A>T n.471A>T n.345A>T c.221A>T (p.Glu74Val) | ClinVar dbSNP |
| 14 | g.90404512_90404513delinsCG | CA2579773477 | CALM1 | c.419_420delinsCG (p.Glu140Ala) c.311_312delinsCG (p.Glu104Ala) c.422_423delinsCG (p.Glu141Ala) c.291_292delinsCG (n.291_292delinsCG) c.*60_*61delinsCG (n.*60_*61delinsCG) n.2549_2550delinsCG n.471_472delinsCG n.345_346delinsCG c.221_222delinsCG (p.Glu74Ala) | |
| 14 | g.90404512_90404513delinsCT | CA2579769741 | CALM1 | c.419_420delinsCT (p.Glu140Ala) c.311_312delinsCT (p.Glu104Ala) c.422_423delinsCT (p.Glu141Ala) c.291_292delinsCT (n.291_292delinsCT) c.*60_*61delinsCT (n.*60_*61delinsCT) n.2549_2550delinsCT n.471_472delinsCT n.345_346delinsCT c.221_222delinsCT (p.Glu74Ala) | |
| 14 | g.90404512_90404513delinsGC | CA2579772760 | CALM1 | c.419_420delinsGC (p.Glu140Gly) c.311_312delinsGC (p.Glu104Gly) c.422_423delinsGC (p.Glu141Gly) c.291_292delinsGC (n.291_292delinsGC) c.*60_*61delinsGC (n.*60_*61delinsGC) n.2549_2550delinsGC n.471_472delinsGC n.345_346delinsGC c.221_222delinsGC (p.Glu74Gly) | |
| 14 | g.90404512_90404513delinsGG | CA2579770173 | CALM1 | c.419_420delinsGG (p.Glu140Gly) c.311_312delinsGG (p.Glu104Gly) c.422_423delinsGG (p.Glu141Gly) c.291_292delinsGG (n.291_292delinsGG) c.*60_*61delinsGG (n.*60_*61delinsGG) n.2549_2550delinsGG n.471_472delinsGG n.345_346delinsGG c.221_222delinsGG (p.Glu74Gly) | |
| 14 | g.90404512_90404513delinsGT | CA2579770530 | CALM1 | c.419_420delinsGT (p.Glu140Gly) c.311_312delinsGT (p.Glu104Gly) c.422_423delinsGT (p.Glu141Gly) c.291_292delinsGT (n.291_292delinsGT) c.*60_*61delinsGT (n.*60_*61delinsGT) n.2549_2550delinsGT n.471_472delinsGT n.345_346delinsGT c.221_222delinsGT (p.Glu74Gly) | |
| 14 | g.90404512_90404513delinsTG | CA2579773142 | CALM1 | c.419_420delinsTG (p.Glu140Val) c.311_312delinsTG (p.Glu104Val) c.422_423delinsTG (p.Glu141Val) c.291_292delinsTG (n.291_292delinsTG) c.*60_*61delinsTG (n.*60_*61delinsTG) n.2549_2550delinsTG n.471_472delinsTG n.345_346delinsTG c.221_222delinsTG (p.Glu74Val) | |
| 14 | g.90404512_90404513delinsTT | CA2579772719 | CALM1 | c.419_420delinsTT (p.Glu140Val) c.311_312delinsTT (p.Glu104Val) c.422_423delinsTT (p.Glu141Val) c.291_292delinsTT (n.291_292delinsTT) c.*60_*61delinsTT (n.*60_*61delinsTT) n.2549_2550delinsTT n.471_472delinsTT n.345_346delinsTT c.221_222delinsTT (p.Glu74Val) | |
| 14 | g.90404513A>C | CA390690415 | CALM1 | c.420A>C (p.Glu140Asp) c.312A>C (p.Glu104Asp) c.423A>C (p.Glu141Asp) c.292A>C (n.292A>C) c.*61A>C (n.*61A>C) n.2550A>C n.472A>C n.346A>C c.222A>C (p.Glu74Asp) | |
| 14 | g.90404513A>G | CA487760836 | CALM1 | c.420A>G (p.Glu140=) c.312A>G (p.Glu104=) c.423A>G (p.Glu141=) c.292A>G (n.292A>G) c.*61A>G (n.*61A>G) n.2550A>G n.472A>G n.346A>G c.222A>G (p.Glu74=) | |
| 14 | g.90404513A>T | CA390690416 | CALM1 | c.420A>T (p.Glu140Asp) c.312A>T (p.Glu104Asp) c.423A>T (p.Glu141Asp) c.292A>T (n.292A>T) c.*61A>T (n.*61A>T) n.2550A>T n.472A>T n.346A>T c.222A>T (p.Glu74Asp) | |
| 14 | g.90404514G>A | CA390690419 | CALM1 | c.421G>A (p.Glu141Lys) c.313G>A (p.Glu105Lys) c.424G>A (p.Glu142Lys) c.293G>A (n.293G>A) c.*62G>A (n.*62G>A) n.2551G>A n.473G>A n.347G>A c.223G>A (p.Glu75Lys) | |
| 14 | g.90404514G>C | CA390690418 | CALM1 | c.421G>C (p.Glu141Gln) c.313G>C (p.Glu105Gln) c.424G>C (p.Glu142Gln) c.293G>C (n.293G>C) c.*62G>C (n.*62G>C) n.2551G>C n.473G>C n.347G>C c.223G>C (p.Glu75Gln) | |
| 14 | g.90404514G>T | CA390690417 | CALM1 | c.421G>T (p.Glu141Ter) c.313G>T (p.Glu105Ter) c.424G>T (p.Glu142Ter) c.293G>T (n.293G>T) c.*62G>T (n.*62G>T) n.2551G>T n.473G>T n.347G>T c.223G>T (p.Glu75Ter) | |
| 14 | g.90404514_90404515delinsAA | CA2579771385 | CALM1 | c.421_421+1delinsAA c.313_313+1delinsAA c.424_424+1delinsAA c.293_293+1delinsAA c.*62_*62+1delinsAA n.2551_2551+1delinsAA n.473_473+1delinsAA n.347_347+1delinsAA c.223_223+1delinsAA | |
| 14 | g.90404514_90404515delinsAT | CA2579774094 | CALM1 | c.421_421+1delinsAT c.313_313+1delinsAT c.424_424+1delinsAT c.293_293+1delinsAT c.*62_*62+1delinsAT n.2551_2551+1delinsAT n.473_473+1delinsAT n.347_347+1delinsAT c.223_223+1delinsAT | |
| 14 | g.90404514_90404515delinsTA | CA2579769917 | CALM1 | c.421_421+1delinsTA c.313_313+1delinsTA c.424_424+1delinsTA c.293_293+1delinsTA c.*62_*62+1delinsTA n.2551_2551+1delinsTA n.473_473+1delinsTA n.347_347+1delinsTA c.223_223+1delinsTA | |
| 14 | g.90404514_90404515delinsTC | CA2579773855 | CALM1 | c.421_421+1delinsTC c.313_313+1delinsTC c.424_424+1delinsTC c.293_293+1delinsTC c.*62_*62+1delinsTC n.2551_2551+1delinsTC n.473_473+1delinsTC n.347_347+1delinsTC c.223_223+1delinsTC | |
| 14 | g.90404514_90404515delinsTT | CA2579773770 | CALM1 | c.421_421+1delinsTT c.313_313+1delinsTT c.424_424+1delinsTT c.293_293+1delinsTT c.*62_*62+1delinsTT n.2551_2551+1delinsTT n.473_473+1delinsTT n.347_347+1delinsTT c.223_223+1delinsTT | |
| 14 | g.90404514_90404516delinsAAC | CA2579773894 | CALM1 | c.421_421+2delinsAAC c.313_313+2delinsAAC c.424_424+2delinsAAC c.293_293+2delinsAAC c.*62_*62+2delinsAAC n.2551_2551+2delinsAAC n.473_473+2delinsAAC n.347_347+2delinsAAC c.223_223+2delinsAAC | |
| 14 | g.90404514_90404516delinsAAG | CA2579771965 | CALM1 | c.421_421+2delinsAAG c.313_313+2delinsAAG c.424_424+2delinsAAG c.293_293+2delinsAAG c.*62_*62+2delinsAAG n.2551_2551+2delinsAAG n.473_473+2delinsAAG n.347_347+2delinsAAG c.223_223+2delinsAAG | |
| 14 | g.90404514_90404516delinsACA | CA2579773513 | CALM1 | c.421_421+2delinsACA c.313_313+2delinsACA c.424_424+2delinsACA c.293_293+2delinsACA c.*62_*62+2delinsACA n.2551_2551+2delinsACA n.473_473+2delinsACA n.347_347+2delinsACA c.223_223+2delinsACA | |
| 14 | g.90404514_90404516delinsAGA | CA2579772455 | CALM1 | c.421_421+2delinsAGA c.313_313+2delinsAGA c.424_424+2delinsAGA c.293_293+2delinsAGA c.*62_*62+2delinsAGA n.2551_2551+2delinsAGA n.473_473+2delinsAGA n.347_347+2delinsAGA c.223_223+2delinsAGA | |
| 14 | g.90404514_90404516delinsAGG | CA2579769913 | CALM1 | c.421_421+2delinsAGG c.313_313+2delinsAGG c.424_424+2delinsAGG c.293_293+2delinsAGG c.*62_*62+2delinsAGG n.2551_2551+2delinsAGG n.473_473+2delinsAGG n.347_347+2delinsAGG c.223_223+2delinsAGG | |
| 14 | g.90404514_90404516delinsATA | CA2579773263 | CALM1 | c.421_421+2delinsATA c.313_313+2delinsATA c.424_424+2delinsATA c.293_293+2delinsATA c.*62_*62+2delinsATA n.2551_2551+2delinsATA n.473_473+2delinsATA n.347_347+2delinsATA c.223_223+2delinsATA | |
| 14 | g.90404514_90404516delinsATG | CA2579773501 | CALM1 | c.421_421+2delinsATG c.313_313+2delinsATG c.424_424+2delinsATG c.293_293+2delinsATG c.*62_*62+2delinsATG n.2551_2551+2delinsATG n.473_473+2delinsATG n.347_347+2delinsATG c.223_223+2delinsATG | |
| 14 | g.90404514_90404516delinsCAG | CA2579773690 | CALM1 | c.421_421+2delinsCAG c.313_313+2delinsCAG c.424_424+2delinsCAG c.293_293+2delinsCAG c.*62_*62+2delinsCAG n.2551_2551+2delinsCAG n.473_473+2delinsCAG n.347_347+2delinsCAG c.223_223+2delinsCAG | |
| 14 | g.90404514_90404516delinsCGA | CA2579771525 | CALM1 | c.421_421+2delinsCGA c.313_313+2delinsCGA c.424_424+2delinsCGA c.293_293+2delinsCGA c.*62_*62+2delinsCGA n.2551_2551+2delinsCGA n.473_473+2delinsCGA n.347_347+2delinsCGA c.223_223+2delinsCGA | |
| 14 | g.90404514_90404516delinsTAG | CA2579772780 | CALM1 | c.421_421+2delinsTAG c.313_313+2delinsTAG c.424_424+2delinsTAG c.293_293+2delinsTAG c.*62_*62+2delinsTAG n.2551_2551+2delinsTAG n.473_473+2delinsTAG n.347_347+2delinsTAG c.223_223+2delinsTAG | |
| 14 | g.90404514_90404516delinsTCA | CA2579772169 | CALM1 | c.421_421+2delinsTCA c.313_313+2delinsTCA c.424_424+2delinsTCA c.293_293+2delinsTCA c.*62_*62+2delinsTCA n.2551_2551+2delinsTCA n.473_473+2delinsTCA n.347_347+2delinsTCA c.223_223+2delinsTCA |