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 |
|---|---|---|---|---|---|
| 12 | g.102893268_102899867delinsCAGGTGCC | CA229463 | PAH | c.169-4949_352+1467delinsGGCACCTG c.154-4949_337+1467delinsGGCACCTG n.91-4949_274+1467delinsGGCACCTG n.265-4949_448+1467delinsGGCACCTG c.153-4949_336+1467delinsGGCACCTG n.258-4949_441+1467delinsGGCACCTG | ClinVar |
| 12 | g.102893268_102899868delinsCAGGTGCC | CA916084112 | PAH | c.169-4950_352+1467delinsGGCACCTG c.154-4950_337+1467delinsGGCACCTG n.91-4950_274+1467delinsGGCACCTG n.265-4950_448+1467delinsGGCACCTG c.153-4950_336+1467delinsGGCACCTG n.258-4950_441+1467delinsGGCACCTG | |
| 12 | g.102893272_102899867delinsCCTG | CA229465 | PAH | c.169-4949_352+1463delinsCAGG c.154-4949_337+1463delinsCAGG n.91-4949_274+1463delinsCAGG n.265-4949_448+1463delinsCAGG c.153-4949_336+1463delinsCAGG n.258-4949_441+1463delinsCAGG | |
| 12 | g.102894733_102894917delinsACCTGTGTCTTTCTTCTTATCTCGTGAAAGCTCATGGACAGTGGCACCAATGTCATGCCTCAAGATCTTGATGATGTTTGTCAGAGCAGGCAGGCTACGTTTATCCAAATGGGTGAAAAATTCATACTCATCTTTCTTTAAACGAGAAGGTCTAGATTCAATGTGGGTCAGGTTTACATCATTCT | CA2059466529 | PAH | c.170_352+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT c.155_337+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.92_274+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.266_448+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT c.154_336+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.259_441+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT | |
| 12 | g.102894737_102894920del | CA16020769 | PAH | c.170_352+1del c.155_337+1del n.92_274+1del n.266_448+1del c.154_336+1del n.259_441+1del | dbSNP |
| 12 | g.102894793_102894800del | CA645576936 | PAH | c.289_296del (p.Ile97AlafsTer2) c.274_281del (p.Ile92AlafsTer2) n.211_218del n.385_392del c.273_280del n.378_385del | COSMIC |
| 12 | g.102894795A= | CA2059466688 | PAH | c.292T= (p.Leu98=) c.277T= (p.Leu93=) n.214T= n.388T= c.276T= n.381T= | |
| 12 | g.102894795A>C | CA16020761 | PAH | c.292T>G (p.Leu98Val) c.277T>G (p.Leu93Val) n.214T>G n.388T>G c.276T>G n.381T>G | ClinVar dbSNP |
| 12 | g.102894795A>G | CA481333192 | PAH | c.292T>C (p.Leu98=) c.277T>C (p.Leu93=) n.214T>C n.388T>C c.276T>C n.381T>C | |
| 12 | g.102894795A>T | CA386304044 | PAH | c.292T>A (p.Leu98Met) c.277T>A (p.Leu93Met) n.214T>A n.388T>A c.276T>A n.381T>A | |
| 12 | g.102894796G>A | CA481333193 | PAH | c.291C>T (p.Ile97=) c.276C>T (p.Ile92=) n.213C>T n.387C>T c.275C>T n.380C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102894796G>C | CA386304045 | PAH | c.291C>G (p.Ile97Met) c.276C>G (p.Ile92Met) n.213C>G n.387C>G c.275C>G n.380C>G | |
| 12 | g.102894796G>T | CA481333194 | PAH | c.291C>A (p.Ile97=) c.276C>A (p.Ile92=) n.213C>A n.387C>A c.275C>A n.380C>A | |
| 12 | g.102894797A>C | CA386304046 | PAH | c.290T>G (p.Ile97Ser) c.275T>G (p.Ile92Ser) n.212T>G n.386T>G c.274T>G n.379T>G | |
| 12 | g.102894797A>G | CA386304047 | PAH | c.290T>C (p.Ile97Thr) c.275T>C (p.Ile92Thr) n.212T>C n.386T>C c.274T>C n.379T>C | |
| 12 | g.102894797A>T | CA386304048 | PAH | c.290T>A (p.Ile97Asn) c.275T>A (p.Ile92Asn) n.212T>A n.386T>A c.274T>A n.379T>A | gnomAD v4 |
| 12 | g.102894798T>A | CA386304049 | PAH | c.289A>T (p.Ile97Phe) c.274A>T (p.Ile92Phe) n.211A>T n.385A>T c.273A>T n.378A>T | gnomAD v4 |
| 12 | g.102894798T>C | CA386304050 | PAH | c.289A>G (p.Ile97Val) c.274A>G (p.Ile92Val) n.211A>G n.385A>G c.273A>G n.378A>G | dbSNP gnomAD v2 |
| 12 | g.102894798T>G | CA6748987 | PAH | c.289A>C (p.Ile97Leu) c.274A>C (p.Ile92Leu) n.211A>C n.385A>C c.273A>C n.378A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894798T= | CA2059466693 | PAH | c.289A= (p.Ile97=) c.274A= (p.Ile92=) n.211A= n.385A= c.273A= n.378A= | |
| 12 | g.102894799C>A | CA386304051 | PAH | c.288G>T (p.Lys96Asn) c.273G>T (p.Lys91Asn) n.210G>T n.384G>T c.272G>T n.377G>T | |
| 12 | g.102894799C>G | CA386304052 | PAH | c.288G>C (p.Lys96Asn) c.273G>C (p.Lys91Asn) n.210G>C n.384G>C c.272G>C n.377G>C | |
| 12 | g.102894799C>T | CA481333196 | PAH | c.288G>A (p.Lys96=) c.273G>A (p.Lys91=) n.210G>A n.384G>A c.272G>A n.377G>A | gnomAD v4 |
| 12 | g.102894800T>A | CA386304053 | PAH | c.287A>T (p.Lys96Met) c.272A>T (p.Lys91Met) n.209A>T n.383A>T c.271A>T n.376A>T | dbSNP |
| 12 | g.102894800T>C | CA386304054 | PAH | c.287A>G (p.Lys96Arg) c.272A>G (p.Lys91Arg) n.209A>G n.383A>G c.271A>G n.376A>G | |
| 12 | g.102894800T>G | CA386304055 | PAH | c.287A>C (p.Lys96Thr) c.272A>C (p.Lys91Thr) n.209A>C n.383A>C c.271A>C n.376A>C | |
| 12 | g.102894800_102894803delinsTTGA | CA2059466699 | PAH | c.284_287delinsTCAA (p.Ile95=) c.269_272delinsTCAA (p.Ile90=) n.206_209delinsTCAA n.380_383delinsTCAA c.268_271delinsTCAA n.373_376delinsTCAA | |
| 12 | g.102894801T>A | CA386304058 | PAH | c.286A>T (p.Lys96Ter) c.271A>T (p.Lys91Ter) n.373A>T n.208A>T n.382A>T c.270A>T n.375A>T | |
| 12 | g.102894801T>C | CA386304057 | PAH | c.286A>G (p.Lys96Glu) c.271A>G (p.Lys91Glu) n.373A>G n.208A>G n.382A>G c.270A>G n.375A>G | gnomAD v4 |
| 12 | g.102894801T>G | CA386304056 | PAH | c.286A>C (p.Lys96Gln) c.271A>C (p.Lys91Gln) n.373A>C n.208A>C n.382A>C c.270A>C n.375A>C | |
| 12 | g.102894806_102894808del | CA251535 | PAH | c.284_286del (p.Ile95del) c.269_271del (p.Ile90del) n.371_373del n.206_208del n.380_382del c.268_270del n.373_375del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894802G>A | CA481333203 | PAH | c.285C>T (p.Ile95=) c.270C>T (p.Ile90=) n.372C>T n.207C>T n.381C>T c.269C>T n.374C>T | ClinVar dbSNP COSMIC |
| 12 | g.102894802G>C | CA386304059 | PAH | c.285C>G (p.Ile95Met) c.270C>G (p.Ile90Met) n.372C>G n.207C>G n.381C>G c.269C>G n.374C>G | |
| 12 | g.102894802G= | CA2059466718 | PAH | c.285C= (p.Ile95=) c.270C= (p.Ile90=) n.372C= n.207C= n.381C= c.269C= n.374C= | |
| 12 | g.102894802G>T | CA481333202 | PAH | c.285C>A (p.Ile95=) c.270C>A (p.Ile90=) n.372C>A n.207C>A n.381C>A c.269C>A n.374C>A | gnomAD v4 |
| 12 | g.102894802_102894803delinsGA | CA2059466714 | PAH | c.284_285delinsTC (p.Ile95=) c.269_270delinsTC (p.Ile90=) n.371_372delinsTC n.206_207delinsTC n.380_381delinsTC c.268_269delinsTC n.373_374delinsTC | |
| 12 | g.102894802_102894803delinsTG | CA267649 | PAH | c.284_285delinsCA (p.Ile95Thr) c.269_270delinsCA (p.Ile90Thr) n.371_372delinsCA n.206_207delinsCA n.380_381delinsCA c.268_269delinsCA n.373_374delinsCA | ClinVar dbSNP |
| 12 | g.102894803A>C | CA386304060 | PAH | c.284T>G (p.Ile95Ser) c.269T>G (p.Ile90Ser) n.371T>G n.206T>G n.380T>G c.268T>G n.373T>G | |
| 12 | g.102894803A>G | CA386304061 | PAH | c.284T>C (p.Ile95Thr) c.269T>C (p.Ile90Thr) n.371T>C n.206T>C n.380T>C c.268T>C n.373T>C | gnomAD v4 |
| 12 | g.102894803A>T | CA386304062 | PAH | c.284T>A (p.Ile95Asn) c.269T>A (p.Ile90Asn) n.371T>A n.206T>A n.380T>A c.268T>A n.373T>A | |
| 12 | g.102894804T>A | CA229507 | PAH | c.283A>T (p.Ile95Phe) c.268A>T (p.Ile90Phe) n.370A>T n.205A>T n.379A>T c.267A>T n.372A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894804T>C | CA386304063 | PAH | c.283A>G (p.Ile95Val) c.268A>G (p.Ile90Val) n.370A>G n.205A>G n.379A>G c.267A>G n.372A>G | |
| 12 | g.102894804T>G | CA386304064 | PAH | c.283A>C (p.Ile95Leu) c.268A>C (p.Ile90Leu) n.370A>C n.205A>C n.379A>C c.267A>C n.372A>C | dbSNP |
| 12 | g.102894804T= | CA2059466726 | PAH | c.283A= (p.Ile95=) c.268A= (p.Ile90=) n.370A= n.205A= n.379A= c.267A= n.372A= | |
| 12 | g.102894804_102894807del | CA2497030226 | PAH | c.280_283del (p.Ile94SerfsTer4) c.265_268del (p.Ile89SerfsTer4) n.367_370del n.202_205del n.376_379del c.264_267del n.369_372del | ClinVar |
| 12 | g.102894805G>A | CA481333207 | PAH | c.282C>T (p.Ile94=) c.267C>T (p.Ile89=) n.369C>T n.204C>T n.378C>T c.266C>T n.371C>T | |
| 12 | g.102894805G>C | CA386304065 | PAH | c.282C>G (p.Ile94Met) c.267C>G (p.Ile89Met) n.369C>G n.204C>G n.378C>G c.266C>G n.371C>G | |
| 12 | g.102894805G>T | CA481333208 | PAH | c.282C>A (p.Ile94=) c.267C>A (p.Ile89=) n.369C>A n.204C>A n.378C>A c.266C>A n.371C>A | |
| 12 | g.102894805_102894808del | CA16021004 | PAH | c.279_282del (p.Asn93LysfsTer5) c.264_267del (p.Asn88LysfsTer5) n.366_369del n.201_204del n.375_378del c.263_266del n.368_371del | |
| 12 | g.102894806A= | CA2059466731 | PAH | c.281T= (p.Ile94=) c.266T= (p.Ile89=) n.368T= n.203T= n.377T= c.265T= n.370T= |