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 |
|---|---|---|---|---|---|
| 2 | g.29220786A>C | CA346473095 | ALK | c.3565T>G (p.Ser1189Ala) c.792T>G n.442T>G c.361T>G (p.Ser121Ala) c.445T>G (p.Ser149Ala) c.2434T>G (p.Ser812Ala) c.718T>G (p.Ser240Ala) | dbSNP |
| 2 | g.29220786A>G | CA346473096 | ALK | c.3565T>C (p.Ser1189Pro) c.792T>C n.442T>C c.361T>C (p.Ser121Pro) c.445T>C (p.Ser149Pro) c.2434T>C (p.Ser812Pro) c.718T>C (p.Ser240Pro) | |
| 2 | g.29220786A>T | CA346473097 | ALK | c.3565T>A (p.Ser1189Thr) c.792T>A n.442T>A c.361T>A (p.Ser121Thr) c.445T>A (p.Ser149Thr) c.2434T>A (p.Ser812Thr) c.718T>A (p.Ser240Thr) | dbSNP |
| 2 | g.29220787T>A | CA346473098 | ALK | c.3564A>T (p.Gln1188His) c.791A>T n.441A>T c.360A>T (p.Gln120His) c.444A>T (p.Gln148His) c.2433A>T (p.Gln811His) c.717A>T (p.Gln239His) | dbSNP gnomAD v4 |
| 2 | g.29220787T>C | CA425619422 | ALK | c.3564A>G (p.Gln1188=) c.791A>G n.441A>G c.360A>G (p.Gln120=) c.444A>G (p.Gln148=) c.2433A>G (p.Gln811=) c.717A>G (p.Gln239=) | dbSNP |
| 2 | g.29220787T>G | CA346473099 | ALK | c.3564A>C (p.Gln1188His) c.791A>C n.441A>C c.360A>C (p.Gln120His) c.444A>C (p.Gln148His) c.2433A>C (p.Gln811His) c.717A>C (p.Gln239His) | dbSNP |
| 2 | g.29220788T>A | CA346473100 | ALK | c.3563A>T (p.Gln1188Leu) c.790A>T n.440A>T c.359A>T (p.Gln120Leu) c.443A>T (p.Gln148Leu) c.2432A>T (p.Gln811Leu) c.716A>T (p.Gln239Leu) | |
| 2 | g.29220788T>C | CA346473101 | ALK | c.3563A>G (p.Gln1188Arg) c.790A>G n.440A>G c.359A>G (p.Gln120Arg) c.443A>G (p.Gln148Arg) c.2432A>G (p.Gln811Arg) c.716A>G (p.Gln239Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.29220788T>G | CA346473102 | ALK | c.3563A>C (p.Gln1188Pro) c.790A>C n.440A>C c.359A>C (p.Gln120Pro) c.443A>C (p.Gln148Pro) c.2432A>C (p.Gln811Pro) c.716A>C (p.Gln239Pro) | |
| 2 | g.29220788T= | CA1241089789 | ALK | c.3563A= (p.Gln1188=) c.790A= n.440A= c.359A= (p.Gln120=) c.443A= (p.Gln148=) c.2432A= (p.Gln811=) c.716A= (p.Gln239=) | |
| 2 | g.29220789G>A | CA346473103 | ALK | c.3562C>T (p.Gln1188Ter) c.789C>T n.439C>T c.358C>T (p.Gln120Ter) c.442C>T (p.Gln148Ter) c.2431C>T (p.Gln811Ter) c.715C>T (p.Gln239Ter) | ClinVar dbSNP |
| 2 | g.29220789G>C | CA346473104 | ALK | c.3562C>G (p.Gln1188Glu) c.789C>G n.439C>G c.358C>G (p.Gln120Glu) c.442C>G (p.Gln148Glu) c.2431C>G (p.Gln811Glu) c.715C>G (p.Gln239Glu) | dbSNP |
| 2 | g.29220789G= | CA1241089790 | ALK | c.3562C= (p.Gln1188=) c.789C= n.439C= c.358C= (p.Gln120=) c.442C= (p.Gln148=) c.2431C= (p.Gln811=) c.715C= (p.Gln239=) | |
| 2 | g.29220789G>T | CA346473105 | ALK | c.3562C>A (p.Gln1188Lys) c.789C>A n.439C>A c.358C>A (p.Gln120Lys) c.442C>A (p.Gln148Lys) c.2431C>A (p.Gln811Lys) c.715C>A (p.Gln239Lys) | dbSNP |
| 2 | g.29220790C>A | CA425619423 | ALK | c.3561G>T (p.Leu1187=) c.788G>T n.438G>T c.357G>T (p.Leu119=) c.441G>T (p.Leu147=) c.2430G>T (p.Leu810=) c.714G>T (p.Leu238=) | dbSNP |
| 2 | g.29220790C>G | CA425619424 | ALK | c.3561G>C (p.Leu1187=) c.788G>C n.438G>C c.357G>C (p.Leu119=) c.441G>C (p.Leu147=) c.2430G>C (p.Leu810=) c.714G>C (p.Leu238=) | dbSNP |
| 2 | g.29220790C>T | CA425619425 | ALK | c.3561G>A (p.Leu1187=) c.788G>A n.438G>A c.357G>A (p.Leu119=) c.441G>A (p.Leu147=) c.2430G>A (p.Leu810=) c.714G>A (p.Leu238=) | dbSNP |
| 2 | g.29220791A>C | CA346473108 | ALK | c.3560T>G (p.Leu1187Arg) c.787T>G n.437T>G c.356T>G (p.Leu119Arg) c.440T>G (p.Leu147Arg) c.2429T>G (p.Leu810Arg) c.713T>G (p.Leu238Arg) | |
| 2 | g.29220791A>G | CA346473107 | ALK | c.3560T>C (p.Leu1187Pro) c.787T>C n.437T>C c.356T>C (p.Leu119Pro) c.440T>C (p.Leu147Pro) c.2429T>C (p.Leu810Pro) c.713T>C (p.Leu238Pro) | dbSNP |
| 2 | g.29220791A>T | CA346473106 | ALK | c.3560T>A (p.Leu1187Gln) c.787T>A n.437T>A c.356T>A (p.Leu119Gln) c.440T>A (p.Leu147Gln) c.2429T>A (p.Leu810Gln) c.713T>A (p.Leu238Gln) | dbSNP |
| 2 | g.29220792G>A | CA425619426 | ALK | c.3559C>T (p.Leu1187=) c.786C>T n.436C>T c.355C>T (p.Leu119=) c.439C>T (p.Leu147=) c.2428C>T (p.Leu810=) c.712C>T (p.Leu238=) | gnomAD v4 |
| 2 | g.29220792G>C | CA346473109 | ALK | c.3559C>G (p.Leu1187Val) c.786C>G n.436C>G c.355C>G (p.Leu119Val) c.439C>G (p.Leu147Val) c.2428C>G (p.Leu810Val) c.712C>G (p.Leu238Val) | |
| 2 | g.29220792G>T | CA346473110 | ALK | c.3559C>A (p.Leu1187Met) c.786C>A n.436C>A c.355C>A (p.Leu119Met) c.439C>A (p.Leu147Met) c.2428C>A (p.Leu810Met) c.712C>A (p.Leu238Met) | |
| 2 | g.29220793G>A | CA425619427 | ALK | c.3558C>T (p.Ser1186=) c.785C>T n.435C>T c.354C>T (p.Ser118=) c.438C>T (p.Ser146=) c.2427C>T (p.Ser809=) c.711C>T (p.Ser237=) | dbSNP |
| 2 | g.29220793G>C | CA346473111 | ALK | c.3558C>G (p.Ser1186Arg) c.785C>G n.435C>G c.354C>G (p.Ser118Arg) c.438C>G (p.Ser146Arg) c.2427C>G (p.Ser809Arg) c.711C>G (p.Ser237Arg) | dbSNP |
| 2 | g.29220793G>T | CA346473112 | ALK | c.3558C>A (p.Ser1186Arg) c.785C>A n.435C>A c.354C>A (p.Ser118Arg) c.438C>A (p.Ser146Arg) c.2427C>A (p.Ser809Arg) c.711C>A (p.Ser237Arg) | |
| 2 | g.29220794C>A | CA346473113 | ALK | c.3557G>T (p.Ser1186Ile) c.784G>T n.434G>T c.353G>T (p.Ser118Ile) c.437G>T (p.Ser146Ile) c.2426G>T (p.Ser809Ile) c.710G>T (p.Ser237Ile) | dbSNP |
| 2 | g.29220794C= | CA1241089791 | ALK | c.3557G= (p.Ser1186=) c.784G= n.434G= c.353G= (p.Ser118=) c.437G= (p.Ser146=) c.2426G= (p.Ser809=) c.710G= (p.Ser237=) | |
| 2 | g.29220794C>G | CA346473114 | ALK | c.3557G>C (p.Ser1186Thr) c.784G>C n.434G>C c.353G>C (p.Ser118Thr) c.437G>C (p.Ser146Thr) c.2426G>C (p.Ser809Thr) c.710G>C (p.Ser237Thr) | dbSNP |
| 2 | g.29220794C>T | CA1593862 | ALK | c.3557G>A (p.Ser1186Asn) c.784G>A n.434G>A c.353G>A (p.Ser118Asn) c.437G>A (p.Ser146Asn) c.2426G>A (p.Ser809Asn) c.710G>A (p.Ser237Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.29220795T>A | CA346473115 | ALK | c.3556A>T (p.Ser1186Cys) c.783A>T n.433A>T c.352A>T (p.Ser118Cys) c.436A>T (p.Ser146Cys) c.2425A>T (p.Ser809Cys) c.709A>T (p.Ser237Cys) | dbSNP |
| 2 | g.29220795T>C | CA346473117 | ALK | c.3556A>G (p.Ser1186Gly) c.783A>G n.433A>G c.352A>G (p.Ser118Gly) c.436A>G (p.Ser146Gly) c.2425A>G (p.Ser809Gly) c.709A>G (p.Ser237Gly) | dbSNP |
| 2 | g.29220795T>G | CA346473116 | ALK | c.3556A>C (p.Ser1186Arg) c.783A>C n.433A>C c.352A>C (p.Ser118Arg) c.436A>C (p.Ser146Arg) c.2425A>C (p.Ser809Arg) c.709A>C (p.Ser237Arg) | |
| 2 | g.29220796C>A | CA425619428 | ALK | c.3555G>T (p.Val1185=) c.782G>T n.432G>T c.351G>T (p.Val117=) c.435G>T (p.Val145=) c.2424G>T (p.Val808=) c.708G>T (p.Val236=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.29220796C= | CA1241089792 | ALK | c.3555G= (p.Val1185=) c.782G= n.432G= c.351G= (p.Val117=) c.435G= (p.Val145=) c.2424G= (p.Val808=) c.708G= (p.Val236=) | |
| 2 | g.29220796C>G | CA425619429 | ALK | c.3555G>C (p.Val1185=) c.782G>C n.432G>C c.351G>C (p.Val117=) c.435G>C (p.Val145=) c.2424G>C (p.Val808=) c.708G>C (p.Val236=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.29220796C>T | CA1593863 | ALK | c.3555G>A (p.Val1185=) c.782G>A n.432G>A c.351G>A (p.Val117=) c.435G>A (p.Val145=) c.2424G>A (p.Val808=) c.708G>A (p.Val236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.29220797A>C | CA346473118 | ALK | c.3554T>G (p.Val1185Gly) c.781T>G n.431T>G c.350T>G (p.Val117Gly) c.434T>G (p.Val145Gly) c.2423T>G (p.Val808Gly) c.707T>G (p.Val236Gly) | |
| 2 | g.29220797A>G | CA346473119 | ALK | c.3554T>C (p.Val1185Ala) c.781T>C n.431T>C c.350T>C (p.Val117Ala) c.434T>C (p.Val145Ala) c.2423T>C (p.Val808Ala) c.707T>C (p.Val236Ala) | gnomAD v4 |
| 2 | g.29220797A>T | CA346473120 | ALK | c.3554T>A (p.Val1185Glu) c.781T>A n.431T>A c.350T>A (p.Val117Glu) c.434T>A (p.Val145Glu) c.2423T>A (p.Val808Glu) c.707T>A (p.Val236Glu) | |
| 2 | g.29220798C>A | CA1593864 | ALK | c.3553G>T (p.Val1185Leu) c.780G>T n.430G>T c.349G>T (p.Val117Leu) c.433G>T (p.Val145Leu) c.2422G>T (p.Val808Leu) c.706G>T (p.Val236Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.29220798C= | CA1241089793 | ALK | c.3553G= (p.Val1185=) c.780G= n.430G= c.349G= (p.Val117=) c.433G= (p.Val145=) c.2422G= (p.Val808=) c.706G= (p.Val236=) | |
| 2 | g.29220798C>G | CA346473122 | ALK | c.3553G>C (p.Val1185Leu) c.780G>C n.430G>C c.349G>C (p.Val117Leu) c.433G>C (p.Val145Leu) c.2422G>C (p.Val808Leu) c.706G>C (p.Val236Leu) | dbSNP |
| 2 | g.29220798C>T | CA346473121 | ALK | c.3553G>A (p.Val1185Met) c.780G>A n.430G>A c.349G>A (p.Val117Met) c.433G>A (p.Val145Met) c.2422G>A (p.Val808Met) c.706G>A (p.Val236Met) | dbSNP |
| 2 | g.29220801del | CA2580066338 | ALK | c.3553del (p.Val1185Ter) c.780del n.430del c.349del (p.Val117Ter) c.433del (p.Val145Ter) c.2422del (p.Val808Ter) c.706del (p.Val236Ter) | ClinVar |
| 2 | g.29220799C>A | CA425619430 | ALK | c.3552G>T (p.Gly1184=) c.779G>T n.429G>T c.348G>T (p.Gly116=) c.432G>T (p.Gly144=) c.2421G>T (p.Gly807=) c.705G>T (p.Gly235=) | dbSNP |
| 2 | g.29220799C= | CA1241089794 | ALK | c.3552G= (p.Gly1184=) c.779G= n.429G= c.348G= (p.Gly116=) c.432G= (p.Gly144=) c.2421G= (p.Gly807=) c.705G= (p.Gly235=) | |
| 2 | g.29220799C>G | CA10581962 | ALK | c.3552G>C (p.Gly1184=) c.779G>C n.429G>C c.348G>C (p.Gly116=) c.432G>C (p.Gly144=) c.2421G>C (p.Gly807=) c.705G>C (p.Gly235=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.29220799C>T | CA425619431 | ALK | c.3552G>A (p.Gly1184=) c.779G>A n.429G>A c.348G>A (p.Gly116=) c.432G>A (p.Gly144=) c.2421G>A (p.Gly807=) c.705G>A (p.Gly235=) | ClinVar dbSNP |
| 2 | g.29220800C>A | CA346473123 | ALK | c.3551G>T (p.Gly1184Val) c.778G>T n.428G>T c.347G>T (p.Gly116Val) c.431G>T (p.Gly144Val) c.2420G>T (p.Gly807Val) c.704G>T (p.Gly235Val) | dbSNP COSMIC |