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 |
|---|---|---|---|---|---|
| 21 | g.34886710_34886921del | CA2580611058 | RUNX1 | c.273_351+133del c.192_270+133del c.237_315+133del c.234_312+133del c.59-6208_59-5997del (n.59-6208_59-5997del) n.452_530+133del c.120_198+133del n.499_577+133del | |
| 21 | g.34886841_34886842dup | CA891842376 | RUNX1 | c.351+1_351+2dup (n.351+1_351+2dup) c.270+1_270+2dup (n.270+1_270+2dup) c.315+1_315+2dup (n.315+1_315+2dup) c.312+1_312+2dup (n.312+1_312+2dup) c.59-6129_59-6128dup (n.59-6129_59-6128dup) n.530+1_530+2dup c.198+1_198+2dup (n.198+1_198+2dup) n.577+1_577+2dup | ClinVar |
| 21 | g.34886844_34886927del | CA645607417 | RUNX1 | c.270_351+2del c.189_270+2del c.234_315+2del c.231_312+2del c.59-6211_59-6128del (n.59-6211_59-6128del) n.449_530+2del c.117_198+2del n.496_577+2del | COSMIC |
| 21 | g.34886842C>A | CA410203333 | RUNX1 | c.351+1G>T (n.351+1G>T) c.270+1G>T (n.270+1G>T) c.315+1G>T (n.315+1G>T) c.312+1G>T (n.312+1G>T) c.59-6129G>T (n.59-6129G>T) n.530+1G>T c.198+1G>T (n.198+1G>T) n.577+1G>T | ClinVar dbSNP |
| 21 | g.34886842C= | CA2387297109 | RUNX1 | c.351+1G= (n.351+1G=) c.270+1G= (n.270+1G=) c.315+1G= (n.315+1G=) c.312+1G= (n.312+1G=) c.59-6129G= (n.59-6129G=) n.530+1G= c.198+1G= (n.198+1G=) n.577+1G= | |
| 21 | g.34886842C>G | CA16616270 | RUNX1 | c.351+1G>C (n.351+1G>C) c.270+1G>C (n.270+1G>C) c.315+1G>C (n.315+1G>C) c.312+1G>C (n.312+1G>C) c.59-6129G>C (n.59-6129G>C) n.530+1G>C c.198+1G>C (n.198+1G>C) n.577+1G>C | ClinVar dbSNP |
| 21 | g.34886842C>T | CA410203336 | RUNX1 | c.351+1G>A (n.351+1G>A) c.270+1G>A (n.270+1G>A) c.315+1G>A (n.315+1G>A) c.312+1G>A (n.312+1G>A) c.59-6129G>A (n.59-6129G>A) n.530+1G>A c.198+1G>A (n.198+1G>A) n.577+1G>A | ClinVar dbSNP |
| 21 | g.34886842_34886843insG | CA512318810 | RUNX1 | c.351_351+1insC (n.351_351+1insC) c.270_270+1insC (n.270_270+1insC) c.315_315+1insC (n.315_315+1insC) c.312_312+1insC (n.312_312+1insC) c.59-6130_59-6129insC (n.59-6130_59-6129insC) n.530_530+1insC c.198_198+1insC (n.198_198+1insC) n.577_577+1insC | |
| 21 | g.34886843C>A | CA410203338 | RUNX1 | c.351G>T (p.Lys117Asn) c.270G>T (p.Lys90Asn) c.315G>T (p.Lys105Asn) c.312G>T (p.Lys104Asn) c.59-6130G>T (n.59-6130G>T) n.530G>T c.198G>T (p.Lys66Asn) n.577G>T | dbSNP |
| 21 | g.34886843C= | CA2387297110 | RUNX1 | c.351G= (p.Lys117=) c.270G= (p.Lys90=) c.315G= (p.Lys105=) c.312G= (p.Lys104=) c.59-6130G= (n.59-6130G=) n.530G= c.198G= (p.Lys66=) n.577G= | |
| 21 | g.34886843C>G | CA410203340 | RUNX1 | c.351G>C (p.Lys117Asn) c.270G>C (p.Lys90Asn) c.315G>C (p.Lys105Asn) c.312G>C (p.Lys104Asn) c.59-6130G>C (n.59-6130G>C) n.530G>C c.198G>C (p.Lys66Asn) n.577G>C | dbSNP |
| 21 | g.34886843C>T | CA320642597 | RUNX1 | c.351G>A (p.Lys117=) c.270G>A (p.Lys90=) c.315G>A (p.Lys105=) c.312G>A (p.Lys104=) c.59-6130G>A (n.59-6130G>A) n.530G>A c.198G>A (p.Lys66=) n.577G>A | dbSNP |
| 21 | g.34886844T>A | CA410203342 | RUNX1 | c.350A>T (p.Lys117Met) c.269A>T (p.Lys90Met) c.314A>T (p.Lys105Met) c.311A>T (p.Lys104Met) c.59-6131A>T (n.59-6131A>T) n.529A>T c.197A>T (p.Lys66Met) n.576A>T | |
| 21 | g.34886844T>C | CA410203343 | RUNX1 | c.350A>G (p.Lys117Arg) c.269A>G (p.Lys90Arg) c.314A>G (p.Lys105Arg) c.311A>G (p.Lys104Arg) c.59-6131A>G (n.59-6131A>G) n.529A>G c.197A>G (p.Lys66Arg) n.576A>G | dbSNP |
| 21 | g.34886844T>G | CA410203345 | RUNX1 | c.350A>C (p.Lys117Thr) c.269A>C (p.Lys90Thr) c.314A>C (p.Lys105Thr) c.311A>C (p.Lys104Thr) c.59-6131A>C (n.59-6131A>C) n.529A>C c.197A>C (p.Lys66Thr) n.576A>C | |
| 21 | g.34886845T>A | CA410203348 | RUNX1 | c.349A>T (p.Lys117Ter) c.268A>T (p.Lys90Ter) c.313A>T (p.Lys105Ter) c.310A>T (p.Lys104Ter) c.59-6132A>T (n.59-6132A>T) n.528A>T c.196A>T (p.Lys66Ter) n.575A>T | COSMIC COSMIC |
| 21 | g.34886845T>C | CA410203349 | RUNX1 | c.349A>G (p.Lys117Glu) c.268A>G (p.Lys90Glu) c.313A>G (p.Lys105Glu) c.310A>G (p.Lys104Glu) c.59-6132A>G (n.59-6132A>G) n.528A>G c.196A>G (p.Lys66Glu) n.575A>G | ClinVar dbSNP |
| 21 | g.34886845T>G | CA410203351 | RUNX1 | c.349A>C (p.Lys117Gln) c.268A>C (p.Lys90Gln) c.313A>C (p.Lys105Gln) c.310A>C (p.Lys104Gln) c.59-6132A>C (n.59-6132A>C) n.528A>C c.196A>C (p.Lys66Gln) n.575A>C | |
| 21 | g.34886846G>A | CA512318811 | RUNX1 | c.348C>T (p.Phe116=) c.267C>T (p.Phe89=) c.312C>T (p.Phe104=) c.309C>T (p.Phe103=) c.59-6133C>T (n.59-6133C>T) n.527C>T c.195C>T (p.Phe65=) n.574C>T | dbSNP |
| 21 | g.34886846G>C | CA410203354 | RUNX1 | c.348C>G (p.Phe116Leu) c.267C>G (p.Phe89Leu) c.312C>G (p.Phe104Leu) c.309C>G (p.Phe103Leu) c.59-6133C>G (n.59-6133C>G) n.527C>G c.195C>G (p.Phe65Leu) n.574C>G | dbSNP gnomAD v4 |
| 21 | g.34886846G>T | CA410203355 | RUNX1 | c.348C>A (p.Phe116Leu) c.267C>A (p.Phe89Leu) c.312C>A (p.Phe104Leu) c.309C>A (p.Phe103Leu) c.59-6133C>A (n.59-6133C>A) n.527C>A c.195C>A (p.Phe65Leu) n.574C>A | |
| 21 | g.34886847A>C | CA410203361 | RUNX1 | c.347T>G (p.Phe116Cys) c.266T>G (p.Phe89Cys) c.311T>G (p.Phe104Cys) c.308T>G (p.Phe103Cys) c.59-6134T>G (n.59-6134T>G) n.526T>G c.194T>G (p.Phe65Cys) n.573T>G | |
| 21 | g.34886847A>G | CA410203359 | RUNX1 | c.347T>C (p.Phe116Ser) c.266T>C (p.Phe89Ser) c.311T>C (p.Phe104Ser) c.308T>C (p.Phe103Ser) c.59-6134T>C (n.59-6134T>C) n.526T>C c.194T>C (p.Phe65Ser) n.573T>C | COSMIC |
| 21 | g.34886847A>T | CA410203358 | RUNX1 | c.347T>A (p.Phe116Tyr) c.266T>A (p.Phe89Tyr) c.311T>A (p.Phe104Tyr) c.308T>A (p.Phe103Tyr) c.59-6134T>A (n.59-6134T>A) n.526T>A c.194T>A (p.Phe65Tyr) n.573T>A | dbSNP |
| 21 | g.34886849del | CA645607418 | RUNX1 | c.347del (p.Phe116SerfsTer6) c.266del (p.Phe89SerfsTer6) c.311del (p.Phe104SerfsTer6) c.308del (p.Phe103SerfsTer6) c.59-6134del (n.59-6134del) n.526del c.194del (p.Phe65SerfsTer6) n.573del | COSMIC COSMIC |
| 21 | g.34886847_34886880dup | CA645607419 | RUNX1 | c.314_347dup (p.Phe116LeufsTer33) c.233_266dup (p.Phe89LeufsTer33) c.278_311dup (p.Phe104LeufsTer33) c.275_308dup (p.Phe103LeufsTer33) c.59-6167_59-6134dup (n.59-6167_59-6134dup) n.493_526dup c.161_194dup (p.Phe65LeufsTer33) n.540_573dup | COSMIC |
| 21 | g.34886848A>C | CA410203363 | RUNX1 | c.346T>G (p.Phe116Val) c.265T>G (p.Phe89Val) c.310T>G (p.Phe104Val) c.307T>G (p.Phe103Val) c.59-6135T>G (n.59-6135T>G) n.525T>G c.193T>G (p.Phe65Val) n.572T>G | gnomAD v4 |
| 21 | g.34886848A>G | CA410203365 | RUNX1 | c.346T>C (p.Phe116Leu) c.265T>C (p.Phe89Leu) c.310T>C (p.Phe104Leu) c.307T>C (p.Phe103Leu) c.59-6135T>C (n.59-6135T>C) n.525T>C c.193T>C (p.Phe65Leu) n.572T>C | COSMIC |
| 21 | g.34886848A>T | CA410203366 | RUNX1 | c.346T>A (p.Phe116Ile) c.265T>A (p.Phe89Ile) c.310T>A (p.Phe104Ile) c.307T>A (p.Phe103Ile) c.59-6135T>A (n.59-6135T>A) n.525T>A c.193T>A (p.Phe65Ile) n.572T>A | ClinVar |
| 21 | g.34886849A>C | CA512318813 | RUNX1 | c.345T>G (p.Ala115=) c.264T>G (p.Ala88=) c.309T>G (p.Ala103=) c.306T>G (p.Ala102=) c.59-6136T>G (n.59-6136T>G) n.524T>G c.192T>G (p.Ala64=) n.571T>G | COSMIC COSMIC |
| 21 | g.34886849A>G | CA512318814 | RUNX1 | c.345T>C (p.Ala115=) c.264T>C (p.Ala88=) c.309T>C (p.Ala103=) c.306T>C (p.Ala102=) c.59-6136T>C (n.59-6136T>C) n.524T>C c.192T>C (p.Ala64=) n.571T>C | |
| 21 | g.34886849A>T | CA512318812 | RUNX1 | c.345T>A (p.Ala115=) c.264T>A (p.Ala88=) c.309T>A (p.Ala103=) c.306T>A (p.Ala102=) c.59-6136T>A (n.59-6136T>A) n.524T>A c.192T>A (p.Ala64=) n.571T>A | dbSNP |
| 21 | g.34886850G>A | CA410203368 | RUNX1 | c.344C>T (p.Ala115Val) c.263C>T (p.Ala88Val) c.308C>T (p.Ala103Val) c.305C>T (p.Ala102Val) c.59-6137C>T (n.59-6137C>T) n.523C>T c.191C>T (p.Ala64Val) n.570C>T | |
| 21 | g.34886850G>C | CA410203369 | RUNX1 | c.344C>G (p.Ala115Gly) c.263C>G (p.Ala88Gly) c.308C>G (p.Ala103Gly) c.305C>G (p.Ala102Gly) c.59-6137C>G (n.59-6137C>G) n.523C>G c.191C>G (p.Ala64Gly) n.570C>G | dbSNP |
| 21 | g.34886850G>T | CA410203370 | RUNX1 | c.344C>A (p.Ala115Asp) c.263C>A (p.Ala88Asp) c.308C>A (p.Ala103Asp) c.305C>A (p.Ala102Asp) c.59-6137C>A (n.59-6137C>A) n.523C>A c.191C>A (p.Ala64Asp) n.570C>A | |
| 21 | g.34886851_34886855del | CA645607420 | RUNX1 | c.340_344del (p.Ile114PhefsTer22) c.259_263del (p.Ile87PhefsTer22) c.304_308del (p.Ile102PhefsTer22) c.301_305del (p.Ile101PhefsTer22) c.59-6141_59-6137del (n.59-6141_59-6137del) n.519_523del c.187_191del (p.Ile63PhefsTer22) n.566_570del | COSMIC |
| 21 | g.34886851C>A | CA410203371 | RUNX1 | c.343G>T (p.Ala115Ser) c.262G>T (p.Ala88Ser) c.307G>T (p.Ala103Ser) c.304G>T (p.Ala102Ser) c.59-6138G>T (n.59-6138G>T) n.522G>T c.190G>T (p.Ala64Ser) n.569G>T | |
| 21 | g.34886851C>G | CA410203373 | RUNX1 | c.343G>C (p.Ala115Pro) c.262G>C (p.Ala88Pro) c.307G>C (p.Ala103Pro) c.304G>C (p.Ala102Pro) c.59-6138G>C (n.59-6138G>C) n.522G>C c.190G>C (p.Ala64Pro) n.569G>C | dbSNP |
| 21 | g.34886851C>T | CA410203375 | RUNX1 | c.343G>A (p.Ala115Thr) c.262G>A (p.Ala88Thr) c.307G>A (p.Ala103Thr) c.304G>A (p.Ala102Thr) c.59-6138G>A (n.59-6138G>A) n.522G>A c.190G>A (p.Ala64Thr) n.569G>A | ClinVar dbSNP |
| 21 | g.34886851dup | CA2695202531 | RUNX1 | c.343dup (p.Ala115GlyfsTer23) c.262dup (p.Ala88GlyfsTer23) c.307dup (p.Ala103GlyfsTer23) c.304dup (p.Ala102GlyfsTer23) c.59-6138dup (n.59-6138dup) n.522dup c.190dup (p.Ala64GlyfsTer23) n.569dup | |
| 21 | g.34886852G>A | CA512318815 | RUNX1 | c.342C>T (p.Ile114=) c.261C>T (p.Ile87=) c.306C>T (p.Ile102=) c.303C>T (p.Ile101=) c.59-6139C>T (n.59-6139C>T) n.521C>T c.189C>T (p.Ile63=) n.568C>T | dbSNP |
| 21 | g.34886852G>C | CA410203376 | RUNX1 | c.342C>G (p.Ile114Met) c.261C>G (p.Ile87Met) c.306C>G (p.Ile102Met) c.303C>G (p.Ile101Met) c.59-6139C>G (n.59-6139C>G) n.521C>G c.189C>G (p.Ile63Met) n.568C>G | ClinVar |
| 21 | g.34886852G= | CA2387297111 | RUNX1 | c.342C= (p.Ile114=) c.261C= (p.Ile87=) c.306C= (p.Ile102=) c.303C= (p.Ile101=) c.59-6139C= (n.59-6139C=) n.521C= c.189C= (p.Ile63=) n.568C= | |
| 21 | g.34886852G>T | CA10014548 | RUNX1 | c.342C>A (p.Ile114=) c.261C>A (p.Ile87=) c.306C>A (p.Ile102=) c.303C>A (p.Ile101=) c.59-6139C>A (n.59-6139C>A) n.521C>A c.189C>A (p.Ile63=) n.568C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.34886853A>C | CA410203379 | RUNX1 | c.341T>G (p.Ile114Ser) c.260T>G (p.Ile87Ser) c.305T>G (p.Ile102Ser) c.302T>G (p.Ile101Ser) c.59-6140T>G (n.59-6140T>G) n.520T>G c.188T>G (p.Ile63Ser) n.567T>G | dbSNP |
| 21 | g.34886853A>G | CA410203381 | RUNX1 | c.341T>C (p.Ile114Thr) c.260T>C (p.Ile87Thr) c.305T>C (p.Ile102Thr) c.302T>C (p.Ile101Thr) c.59-6140T>C (n.59-6140T>C) n.520T>C c.188T>C (p.Ile63Thr) n.567T>C | ClinVar dbSNP |
| 21 | g.34886853A>T | CA410203383 | RUNX1 | c.341T>A (p.Ile114Asn) c.260T>A (p.Ile87Asn) c.305T>A (p.Ile102Asn) c.302T>A (p.Ile101Asn) c.59-6140T>A (n.59-6140T>A) n.520T>A c.188T>A (p.Ile63Asn) n.567T>A | ClinVar dbSNP |
| 21 | g.34886854_34886859del | CA645607421 | RUNX1 | c.336_341del (p.Pro113_Ile114del) c.255_260del (p.Pro86_Ile87del) c.300_305del (p.Pro101_Ile102del) c.297_302del (p.Pro100_Ile101del) c.59-6145_59-6140del (n.59-6145_59-6140del) n.515_520del c.183_188del (p.Pro62_Ile63del) n.562_567del | COSMIC |
| 21 | g.34886854T>A | CA410203387 | RUNX1 | c.340A>T (p.Ile114Phe) c.259A>T (p.Ile87Phe) c.304A>T (p.Ile102Phe) c.301A>T (p.Ile101Phe) c.59-6141A>T (n.59-6141A>T) n.519A>T c.187A>T (p.Ile63Phe) n.566A>T | |
| 21 | g.34886854T>C | CA410203388 | RUNX1 | c.340A>G (p.Ile114Val) c.259A>G (p.Ile87Val) c.304A>G (p.Ile102Val) c.301A>G (p.Ile101Val) c.59-6141A>G (n.59-6141A>G) n.519A>G c.187A>G (p.Ile63Val) n.566A>G | ClinVar dbSNP gnomAD v4 |