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.90404691T>A | CA390690447 | CALM1 | c.424T>A (p.Phe142Ile) c.316T>A (p.Phe106Ile) c.427T>A (p.Phe143Ile) c.296T>A (n.296T>A) c.*65T>A (n.*65T>A) n.2554T>A n.476T>A n.350T>A c.226T>A (p.Phe76Ile) | |
| 14 | g.90404691T>C | CA390690445 | CALM1 | c.424T>C (p.Phe142Leu) c.316T>C (p.Phe106Leu) c.427T>C (p.Phe143Leu) c.296T>C (n.296T>C) c.*65T>C (n.*65T>C) n.2554T>C n.476T>C n.350T>C c.226T>C (p.Phe76Leu) | ClinVar dbSNP |
| 14 | g.90404691T>G | CA390690443 | CALM1 | c.424T>G (p.Phe142Val) c.316T>G (p.Phe106Val) c.427T>G (p.Phe143Val) c.296T>G (n.296T>G) c.*65T>G (n.*65T>G) n.2554T>G n.476T>G n.350T>G c.226T>G (p.Phe76Val) | |
| 14 | g.90404691T= | CA2154484449 | CALM1 | c.424T= (p.Phe142=) c.316T= (p.Phe106=) c.427T= (p.Phe143=) c.296T= (n.296T=) c.*65T= (n.*65T=) n.2554T= n.476T= n.350T= c.226T= (p.Phe76=) | |
| 14 | g.90404691_90404692delinsAA | CA2579772765 | CALM1 | c.424_425delinsAA (p.Phe142Asn) c.316_317delinsAA (p.Phe106Asn) c.427_428delinsAA (p.Phe143Asn) c.296_297delinsAA (n.296_297delinsAA) c.*65_*66delinsAA (n.*65_*66delinsAA) n.2554_2555delinsAA n.476_477delinsAA n.350_351delinsAA c.226_227delinsAA (p.Phe76Asn) | |
| 14 | g.90404691_90404692delinsAC | CA2579770636 | CALM1 | c.424_425delinsAC (p.Phe142Thr) c.316_317delinsAC (p.Phe106Thr) c.427_428delinsAC (p.Phe143Thr) c.296_297delinsAC (n.296_297delinsAC) c.*65_*66delinsAC (n.*65_*66delinsAC) n.2554_2555delinsAC n.476_477delinsAC n.350_351delinsAC c.226_227delinsAC (p.Phe76Thr) | |
| 14 | g.90404691_90404692delinsAG | CA2579773784 | CALM1 | c.424_425delinsAG (p.Phe142Ser) c.316_317delinsAG (p.Phe106Ser) c.427_428delinsAG (p.Phe143Ser) c.296_297delinsAG (n.296_297delinsAG) c.*65_*66delinsAG (n.*65_*66delinsAG) n.2554_2555delinsAG n.476_477delinsAG n.350_351delinsAG c.226_227delinsAG (p.Phe76Ser) | |
| 14 | g.90404691_90404692delinsCA | CA2579771580 | CALM1 | c.424_425delinsCA (p.Phe142His) c.316_317delinsCA (p.Phe106His) c.427_428delinsCA (p.Phe143His) c.296_297delinsCA (n.296_297delinsCA) c.*65_*66delinsCA (n.*65_*66delinsCA) n.2554_2555delinsCA n.476_477delinsCA n.350_351delinsCA c.226_227delinsCA (p.Phe76His) | |
| 14 | g.90404691_90404692delinsCC | CA2579770523 | CALM1 | c.424_425delinsCC (p.Phe142Pro) c.316_317delinsCC (p.Phe106Pro) c.427_428delinsCC (p.Phe143Pro) c.296_297delinsCC (n.296_297delinsCC) c.*65_*66delinsCC (n.*65_*66delinsCC) n.2554_2555delinsCC n.476_477delinsCC n.350_351delinsCC c.226_227delinsCC (p.Phe76Pro) | |
| 14 | g.90404691_90404692delinsCG | CA2579774327 | CALM1 | c.424_425delinsCG (p.Phe142Arg) c.316_317delinsCG (p.Phe106Arg) c.427_428delinsCG (p.Phe143Arg) c.296_297delinsCG (n.296_297delinsCG) c.*65_*66delinsCG (n.*65_*66delinsCG) n.2554_2555delinsCG n.476_477delinsCG n.350_351delinsCG c.226_227delinsCG (p.Phe76Arg) | |
| 14 | g.90404691_90404692delinsGA | CA2579772874 | CALM1 | c.424_425delinsGA (p.Phe142Asp) c.316_317delinsGA (p.Phe106Asp) c.427_428delinsGA (p.Phe143Asp) c.296_297delinsGA (n.296_297delinsGA) c.*65_*66delinsGA (n.*65_*66delinsGA) n.2554_2555delinsGA n.476_477delinsGA n.350_351delinsGA c.226_227delinsGA (p.Phe76Asp) | |
| 14 | g.90404691_90404692delinsGC | CA2579774295 | CALM1 | c.424_425delinsGC (p.Phe142Ala) c.316_317delinsGC (p.Phe106Ala) c.427_428delinsGC (p.Phe143Ala) c.296_297delinsGC (n.296_297delinsGC) c.*65_*66delinsGC (n.*65_*66delinsGC) n.2554_2555delinsGC n.476_477delinsGC n.350_351delinsGC c.226_227delinsGC (p.Phe76Ala) | |
| 14 | g.90404691_90404692delinsGG | CA2579769866 | CALM1 | c.424_425delinsGG (p.Phe142Gly) c.316_317delinsGG (p.Phe106Gly) c.427_428delinsGG (p.Phe143Gly) c.296_297delinsGG (n.296_297delinsGG) c.*65_*66delinsGG (n.*65_*66delinsGG) n.2554_2555delinsGG n.476_477delinsGG n.350_351delinsGG c.226_227delinsGG (p.Phe76Gly) | |
| 14 | g.90404691_90404693delinsAAG | CA2579772961 | CALM1 | c.424_426delinsAAG (p.Phe142Lys) c.316_318delinsAAG (p.Phe106Lys) c.427_429delinsAAG (p.Phe143Lys) c.296_298delinsAAG (n.296_298delinsAAG) c.*65_*67delinsAAG (n.*65_*67delinsAAG) n.2554_2556delinsAAG n.476_478delinsAAG n.350_352delinsAAG c.226_228delinsAAG (p.Phe76Lys) | |
| 14 | g.90404691_90404693delinsAAT | CA2579770423 | CALM1 | c.424_426delinsAAT (p.Phe142Asn) c.316_318delinsAAT (p.Phe106Asn) c.427_429delinsAAT (p.Phe143Asn) c.296_298delinsAAT (n.296_298delinsAAT) c.*65_*67delinsAAT (n.*65_*67delinsAAT) n.2554_2556delinsAAT n.476_478delinsAAT n.350_352delinsAAT c.226_228delinsAAT (p.Phe76Asn) | |
| 14 | g.90404691_90404693delinsACG | CA2579774240 | CALM1 | c.424_426delinsACG (p.Phe142Thr) c.316_318delinsACG (p.Phe106Thr) c.427_429delinsACG (p.Phe143Thr) c.296_298delinsACG (n.296_298delinsACG) c.*65_*67delinsACG (n.*65_*67delinsACG) n.2554_2556delinsACG n.476_478delinsACG n.350_352delinsACG c.226_228delinsACG (p.Phe76Thr) | |
| 14 | g.90404691_90404693delinsACT | CA2579772851 | CALM1 | c.424_426delinsACT (p.Phe142Thr) c.316_318delinsACT (p.Phe106Thr) c.427_429delinsACT (p.Phe143Thr) c.296_298delinsACT (n.296_298delinsACT) c.*65_*67delinsACT (n.*65_*67delinsACT) n.2554_2556delinsACT n.476_478delinsACT n.350_352delinsACT c.226_228delinsACT (p.Phe76Thr) | |
| 14 | g.90404691_90404693delinsATG | CA2579773196 | CALM1 | c.424_426delinsATG (p.Phe142Met) c.316_318delinsATG (p.Phe106Met) c.427_429delinsATG (p.Phe143Met) c.296_298delinsATG (n.296_298delinsATG) c.*65_*67delinsATG (n.*65_*67delinsATG) n.2554_2556delinsATG n.476_478delinsATG n.350_352delinsATG c.226_228delinsATG (p.Phe76Met) | |
| 14 | g.90404691_90404693delinsATT | CA2579772947 | CALM1 | c.424_426delinsATT (p.Phe142Ile) c.316_318delinsATT (p.Phe106Ile) c.427_429delinsATT (p.Phe143Ile) c.296_298delinsATT (n.296_298delinsATT) c.*65_*67delinsATT (n.*65_*67delinsATT) n.2554_2556delinsATT n.476_478delinsATT n.350_352delinsATT c.226_228delinsATT (p.Phe76Ile) | |
| 14 | g.90404691_90404693delinsCCG | CA2579770026 | CALM1 | c.424_426delinsCCG (p.Phe142Pro) c.316_318delinsCCG (p.Phe106Pro) c.427_429delinsCCG (p.Phe143Pro) c.296_298delinsCCG (n.296_298delinsCCG) c.*65_*67delinsCCG (n.*65_*67delinsCCG) n.2554_2556delinsCCG n.476_478delinsCCG n.350_352delinsCCG c.226_228delinsCCG (p.Phe76Pro) | |
| 14 | g.90404691_90404693delinsCCT | CA2579771763 | CALM1 | c.424_426delinsCCT (p.Phe142Pro) c.316_318delinsCCT (p.Phe106Pro) c.427_429delinsCCT (p.Phe143Pro) c.296_298delinsCCT (n.296_298delinsCCT) c.*65_*67delinsCCT (n.*65_*67delinsCCT) n.2554_2556delinsCCT n.476_478delinsCCT n.350_352delinsCCT c.226_228delinsCCT (p.Phe76Pro) | |
| 14 | g.90404691_90404693delinsCGT | CA2579769940 | CALM1 | c.424_426delinsCGT (p.Phe142Arg) c.316_318delinsCGT (p.Phe106Arg) c.427_429delinsCGT (p.Phe143Arg) c.296_298delinsCGT (n.296_298delinsCGT) c.*65_*67delinsCGT (n.*65_*67delinsCGT) n.2554_2556delinsCGT n.476_478delinsCGT n.350_352delinsCGT c.226_228delinsCGT (p.Phe76Arg) | |
| 14 | g.90404691_90404693delinsCTT | CA2579771707 | CALM1 | c.424_426delinsCTT (p.Phe142Leu) c.316_318delinsCTT (p.Phe106Leu) c.427_429delinsCTT (p.Phe143Leu) c.296_298delinsCTT (n.296_298delinsCTT) c.*65_*67delinsCTT (n.*65_*67delinsCTT) n.2554_2556delinsCTT n.476_478delinsCTT n.350_352delinsCTT c.226_228delinsCTT (p.Phe76Leu) | |
| 14 | g.90404691_90404693delinsGAG | CA2579772952 | CALM1 | c.424_426delinsGAG (p.Phe142Glu) c.316_318delinsGAG (p.Phe106Glu) c.427_429delinsGAG (p.Phe143Glu) c.296_298delinsGAG (n.296_298delinsGAG) c.*65_*67delinsGAG (n.*65_*67delinsGAG) n.2554_2556delinsGAG n.476_478delinsGAG n.350_352delinsGAG c.226_228delinsGAG (p.Phe76Glu) | |
| 14 | g.90404691_90404693delinsGAT | CA2579769770 | CALM1 | c.424_426delinsGAT (p.Phe142Asp) c.316_318delinsGAT (p.Phe106Asp) c.427_429delinsGAT (p.Phe143Asp) c.296_298delinsGAT (n.296_298delinsGAT) c.*65_*67delinsGAT (n.*65_*67delinsGAT) n.2554_2556delinsGAT n.476_478delinsGAT n.350_352delinsGAT c.226_228delinsGAT (p.Phe76Asp) | |
| 14 | g.90404691_90404693delinsGCT | CA2579771741 | CALM1 | c.424_426delinsGCT (p.Phe142Ala) c.316_318delinsGCT (p.Phe106Ala) c.427_429delinsGCT (p.Phe143Ala) c.296_298delinsGCT (n.296_298delinsGCT) c.*65_*67delinsGCT (n.*65_*67delinsGCT) n.2554_2556delinsGCT n.476_478delinsGCT n.350_352delinsGCT c.226_228delinsGCT (p.Phe76Ala) | |
| 14 | g.90404691_90404693delinsGGG | CA2579773240 | CALM1 | c.424_426delinsGGG (p.Phe142Gly) c.316_318delinsGGG (p.Phe106Gly) c.427_429delinsGGG (p.Phe143Gly) c.296_298delinsGGG (n.296_298delinsGGG) c.*65_*67delinsGGG (n.*65_*67delinsGGG) n.2554_2556delinsGGG n.476_478delinsGGG n.350_352delinsGGG c.226_228delinsGGG (p.Phe76Gly) | |
| 14 | g.90404691_90404693delinsGGT | CA2579772330 | CALM1 | c.424_426delinsGGT (p.Phe142Gly) c.316_318delinsGGT (p.Phe106Gly) c.427_429delinsGGT (p.Phe143Gly) c.296_298delinsGGT (n.296_298delinsGGT) c.*65_*67delinsGGT (n.*65_*67delinsGGT) n.2554_2556delinsGGT n.476_478delinsGGT n.350_352delinsGGT c.226_228delinsGGT (p.Phe76Gly) | |
| 14 | g.90404691_90404693delinsGTG | CA2579772131 | CALM1 | c.424_426delinsGTG (p.Phe142Val) c.316_318delinsGTG (p.Phe106Val) c.427_429delinsGTG (p.Phe143Val) c.296_298delinsGTG (n.296_298delinsGTG) c.*65_*67delinsGTG (n.*65_*67delinsGTG) n.2554_2556delinsGTG n.476_478delinsGTG n.350_352delinsGTG c.226_228delinsGTG (p.Phe76Val) | |
| 14 | g.90404691_90404693delinsGTT | CA2579770751 | CALM1 | c.424_426delinsGTT (p.Phe142Val) c.316_318delinsGTT (p.Phe106Val) c.427_429delinsGTT (p.Phe143Val) c.296_298delinsGTT (n.296_298delinsGTT) c.*65_*67delinsGTT (n.*65_*67delinsGTT) n.2554_2556delinsGTT n.476_478delinsGTT n.350_352delinsGTT c.226_228delinsGTT (p.Phe76Val) | |
| 14 | g.90404692T>A | CA390690449 | CALM1 | c.425T>A (p.Phe142Tyr) c.317T>A (p.Phe106Tyr) c.428T>A (p.Phe143Tyr) c.297T>A (n.297T>A) c.*66T>A (n.*66T>A) n.2555T>A n.477T>A n.351T>A c.227T>A (p.Phe76Tyr) | |
| 14 | g.90404692T>C | CA390690450 | CALM1 | c.425T>C (p.Phe142Ser) c.317T>C (p.Phe106Ser) c.428T>C (p.Phe143Ser) c.297T>C (n.297T>C) c.*66T>C (n.*66T>C) n.2555T>C n.477T>C n.351T>C c.227T>C (p.Phe76Ser) | |
| 14 | g.90404692T>G | CA390690453 | CALM1 | c.425T>G (p.Phe142Cys) c.317T>G (p.Phe106Cys) c.428T>G (p.Phe143Cys) c.297T>G (n.297T>G) c.*66T>G (n.*66T>G) n.2555T>G n.477T>G n.351T>G c.227T>G (p.Phe76Cys) | |
| 14 | g.90404692_90404693delinsAA | CA2579770850 | CALM1 | c.425_426delinsAA (p.Phe142Ter) c.317_318delinsAA (p.Phe106Ter) c.428_429delinsAA (p.Phe143Ter) c.297_298delinsAA (n.297_298delinsAA) c.*66_*67delinsAA (n.*66_*67delinsAA) n.2555_2556delinsAA n.477_478delinsAA n.351_352delinsAA c.227_228delinsAA (p.Phe76Ter) | |
| 14 | g.90404692_90404693delinsAG | CA2579772627 | CALM1 | c.425_426delinsAG (p.Phe142Ter) c.317_318delinsAG (p.Phe106Ter) c.428_429delinsAG (p.Phe143Ter) c.297_298delinsAG (n.297_298delinsAG) c.*66_*67delinsAG (n.*66_*67delinsAG) n.2555_2556delinsAG n.477_478delinsAG n.351_352delinsAG c.227_228delinsAG (p.Phe76Ter) | |
| 14 | g.90404692_90404693delinsAT | CA2579771233 | CALM1 | c.425_426delinsAT (p.Phe142Tyr) c.317_318delinsAT (p.Phe106Tyr) c.428_429delinsAT (p.Phe143Tyr) c.297_298delinsAT (n.297_298delinsAT) c.*66_*67delinsAT (n.*66_*67delinsAT) n.2555_2556delinsAT n.477_478delinsAT n.351_352delinsAT c.227_228delinsAT (p.Phe76Tyr) | |
| 14 | g.90404692_90404693delinsCA | CA2579773917 | CALM1 | c.425_426delinsCA (p.Phe142Ser) c.317_318delinsCA (p.Phe106Ser) c.428_429delinsCA (p.Phe143Ser) c.297_298delinsCA (n.297_298delinsCA) c.*66_*67delinsCA (n.*66_*67delinsCA) n.2555_2556delinsCA n.477_478delinsCA n.351_352delinsCA c.227_228delinsCA (p.Phe76Ser) | |
| 14 | g.90404692_90404693delinsCG | CA2579773314 | CALM1 | c.425_426delinsCG (p.Phe142Ser) c.317_318delinsCG (p.Phe106Ser) c.428_429delinsCG (p.Phe143Ser) c.297_298delinsCG (n.297_298delinsCG) c.*66_*67delinsCG (n.*66_*67delinsCG) n.2555_2556delinsCG n.477_478delinsCG n.351_352delinsCG c.227_228delinsCG (p.Phe76Ser) | |
| 14 | g.90404692_90404693delinsCT | CA2579773355 | CALM1 | c.425_426delinsCT (p.Phe142Ser) c.317_318delinsCT (p.Phe106Ser) c.428_429delinsCT (p.Phe143Ser) c.297_298delinsCT (n.297_298delinsCT) c.*66_*67delinsCT (n.*66_*67delinsCT) n.2555_2556delinsCT n.477_478delinsCT n.351_352delinsCT c.227_228delinsCT (p.Phe76Ser) | |
| 14 | g.90404692_90404693delinsGG | CA2579772647 | CALM1 | c.425_426delinsGG (p.Phe142Trp) c.317_318delinsGG (p.Phe106Trp) c.428_429delinsGG (p.Phe143Trp) c.297_298delinsGG (n.297_298delinsGG) c.*66_*67delinsGG (n.*66_*67delinsGG) n.2555_2556delinsGG n.477_478delinsGG n.351_352delinsGG c.227_228delinsGG (p.Phe76Trp) | |
| 14 | g.90404692_90404693delinsGT | CA2579772521 | CALM1 | c.425_426delinsGT (p.Phe142Cys) c.317_318delinsGT (p.Phe106Cys) c.428_429delinsGT (p.Phe143Cys) c.297_298delinsGT (n.297_298delinsGT) c.*66_*67delinsGT (n.*66_*67delinsGT) n.2555_2556delinsGT n.477_478delinsGT n.351_352delinsGT c.227_228delinsGT (p.Phe76Cys) | |
| 14 | g.90404693C>A | CA390690455 | CALM1 | c.426C>A (p.Phe142Leu) c.318C>A (p.Phe106Leu) c.429C>A (p.Phe143Leu) c.298C>A (n.298C>A) c.*67C>A (n.*67C>A) n.2556C>A n.478C>A n.352C>A c.228C>A (p.Phe76Leu) | ClinVar dbSNP |
| 14 | g.90404693C= | CA2154484457 | CALM1 | c.426C= (p.Phe142=) c.318C= (p.Phe106=) c.429C= (p.Phe143=) c.298C= (n.298C=) c.*67C= (n.*67C=) n.2556C= n.478C= n.352C= c.228C= (p.Phe76=) | |
| 14 | g.90404693C>G | CA186015 | CALM1 | c.426C>G (p.Phe142Leu) c.318C>G (p.Phe106Leu) c.429C>G (p.Phe143Leu) c.298C>G (n.298C>G) c.*67C>G (n.*67C>G) n.2556C>G n.478C>G n.352C>G c.228C>G (p.Phe76Leu) | ClinVar dbSNP |
| 14 | g.90404693C>T | CA7305829 | CALM1 | c.426C>T (p.Phe142=) c.318C>T (p.Phe106=) c.429C>T (p.Phe143=) c.298C>T (n.298C>T) c.*67C>T (n.*67C>T) n.2556C>T n.478C>T n.352C>T c.228C>T (p.Phe76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.90404694G>A | CA390690459 | CALM1 | c.427G>A (p.Val143Ile) c.319G>A (p.Val107Ile) c.430G>A (p.Val144Ile) c.299G>A (n.299G>A) c.*68G>A (n.*68G>A) n.2557G>A n.479G>A n.353G>A c.229G>A (p.Val77Ile) | gnomAD v4 |
| 14 | g.90404694G>C | CA7305830 | CALM1 | c.427G>C (p.Val143Leu) c.319G>C (p.Val107Leu) c.430G>C (p.Val144Leu) c.299G>C (n.299G>C) c.*68G>C (n.*68G>C) n.2557G>C n.479G>C n.353G>C c.229G>C (p.Val77Leu) | dbSNP ExAC gnomAD v2 |
| 14 | g.90404694G= | CA2154484469 | CALM1 | c.427G= (p.Val143=) c.319G= (p.Val107=) c.430G= (p.Val144=) c.299G= (n.299G=) c.*68G= (n.*68G=) n.2557G= n.479G= n.353G= c.229G= (p.Val77=) | |
| 14 | g.90404694G>T | CA390690462 | CALM1 | c.427G>T (p.Val143Leu) c.319G>T (p.Val107Leu) c.430G>T (p.Val144Leu) c.299G>T (n.299G>T) c.*68G>T (n.*68G>T) n.2557G>T n.479G>T n.353G>T c.229G>T (p.Val77Leu) | |
| 14 | g.90404694_90404695delinsAA | CA2579772832 | CALM1 | c.427_428delinsAA (p.Val143Lys) c.319_320delinsAA (p.Val107Lys) c.430_431delinsAA (p.Val144Lys) c.299_300delinsAA (n.299_300delinsAA) c.*68_*69delinsAA (n.*68_*69delinsAA) n.2557_2558delinsAA n.479_480delinsAA n.353_354delinsAA c.229_230delinsAA (p.Val77Lys) |