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.29209816C>A | CA346469632 | ALK | c.3806G>T (p.Gly1269Val) c.1033G>T n.683G>T c.602G>T (p.Gly201Val) c.686G>T (p.Gly229Val) c.2675G>T (p.Gly892Val) c.959G>T (p.Gly320Val) | dbSNP |
| 2 | g.29209816C= | CA1241083942 | ALK | c.3806G= (p.Gly1269=) c.1033G= n.683G= c.602G= (p.Gly201=) c.686G= (p.Gly229=) c.2675G= (p.Gly892=) c.959G= (p.Gly320=) | |
| 2 | g.29209816C>G | CA16602590 | ALK | c.3806G>C (p.Gly1269Ala) c.1033G>C n.683G>C c.602G>C (p.Gly201Ala) c.686G>C (p.Gly229Ala) c.2675G>C (p.Gly892Ala) c.959G>C (p.Gly320Ala) | ClinVar dbSNP COSMIC |
| 2 | g.29209816C>T | CA346469633 | ALK | c.3806G>A (p.Gly1269Glu) c.1033G>A n.683G>A c.602G>A (p.Gly201Glu) c.686G>A (p.Gly229Glu) c.2675G>A (p.Gly892Glu) c.959G>A (p.Gly320Glu) | ClinVar dbSNP COSMIC |
| 2 | g.29209817del | CA2573134525 | ALK | c.3806del (p.Gly1269GlufsTer?) c.1033del n.683del c.602del (p.Gly201GlufsTer?) c.686del (p.Gly229GlufsTer?) c.2675del (p.Gly892GlufsTer?) c.959del (p.Gly320GlufsTer?) | ClinVar dbSNP |
| 2 | g.29209817C>A | CA346469635 | ALK | c.3805G>T (p.Gly1269Ter) c.1032G>T n.682G>T c.601G>T (p.Gly201Ter) c.685G>T (p.Gly229Ter) c.2674G>T (p.Gly892Ter) c.958G>T (p.Gly320Ter) | dbSNP |
| 2 | g.29209817C>G | CA346469636 | ALK | c.3805G>C (p.Gly1269Arg) c.1032G>C n.682G>C c.601G>C (p.Gly201Arg) c.685G>C (p.Gly229Arg) c.2674G>C (p.Gly892Arg) c.958G>C (p.Gly320Arg) | dbSNP |
| 2 | g.29209817C>T | CA346469638 | ALK | c.3805G>A (p.Gly1269Arg) c.1032G>A n.682G>A c.601G>A (p.Gly201Arg) c.685G>A (p.Gly229Arg) c.2674G>A (p.Gly892Arg) c.958G>A (p.Gly320Arg) | dbSNP |
| 2 | g.29209818A>C | CA346469640 | ALK | c.3804T>G (p.Ile1268Met) c.1031T>G n.681T>G c.600T>G (p.Ile200Met) c.684T>G (p.Ile228Met) c.2673T>G (p.Ile891Met) c.957T>G (p.Ile319Met) | |
| 2 | g.29209818A>G | CA425434654 | ALK | c.3804T>C (p.Ile1268=) c.1031T>C n.681T>C c.600T>C (p.Ile200=) c.684T>C (p.Ile228=) c.2673T>C (p.Ile891=) c.957T>C (p.Ile319=) | gnomAD v4 |
| 2 | g.29209818A>T | CA425434656 | ALK | c.3804T>A (p.Ile1268=) c.1031T>A n.681T>A c.600T>A (p.Ile200=) c.684T>A (p.Ile228=) c.2673T>A (p.Ile891=) c.957T>A (p.Ile319=) | dbSNP |
| 2 | g.29209819A= | CA1241083943 | ALK | c.3803T= (p.Ile1268=) c.1030T= n.680T= c.599T= (p.Ile200=) c.683T= (p.Ile228=) c.2672T= (p.Ile891=) c.956T= (p.Ile319=) | |
| 2 | g.29209819A>C | CA346469646 | ALK | c.3803T>G (p.Ile1268Ser) c.1030T>G n.680T>G c.599T>G (p.Ile200Ser) c.683T>G (p.Ile228Ser) c.2672T>G (p.Ile891Ser) c.956T>G (p.Ile319Ser) | COSMIC |
| 2 | g.29209819A>G | CA346469642 | ALK | c.3803T>C (p.Ile1268Thr) c.1030T>C n.680T>C c.599T>C (p.Ile200Thr) c.683T>C (p.Ile228Thr) c.2672T>C (p.Ile891Thr) c.956T>C (p.Ile319Thr) | dbSNP gnomAD v2 |
| 2 | g.29209819A>T | CA346469644 | ALK | c.3803T>A (p.Ile1268Asn) c.1030T>A n.680T>A c.599T>A (p.Ile200Asn) c.683T>A (p.Ile228Asn) c.2672T>A (p.Ile891Asn) c.956T>A (p.Ile319Asn) | dbSNP COSMIC |
| 2 | g.29209820T>A | CA346469648 | ALK | c.3802A>T (p.Ile1268Phe) c.1029A>T n.679A>T c.598A>T (p.Ile200Phe) c.682A>T (p.Ile228Phe) c.2671A>T (p.Ile891Phe) c.955A>T (p.Ile319Phe) | ClinVar dbSNP gnomAD v4 |
| 2 | g.29209820T>C | CA346469649 | ALK | c.3802A>G (p.Ile1268Val) c.1029A>G n.679A>G c.598A>G (p.Ile200Val) c.682A>G (p.Ile228Val) c.2671A>G (p.Ile891Val) c.955A>G (p.Ile319Val) | dbSNP |
| 2 | g.29209820T>G | CA346469650 | ALK | c.3802A>C (p.Ile1268Leu) c.1029A>C n.679A>C c.598A>C (p.Ile200Leu) c.682A>C (p.Ile228Leu) c.2671A>C (p.Ile891Leu) c.955A>C (p.Ile319Leu) | |
| 2 | g.29209820T= | CA1241083944 | ALK | c.3802A= (p.Ile1268=) c.1029A= n.679A= c.598A= (p.Ile200=) c.682A= (p.Ile228=) c.2671A= (p.Ile891=) c.955A= (p.Ile319=) | |
| 2 | g.29209821C>A | CA346469652 | ALK | c.3801G>T (p.Lys1267Asn) c.1028G>T n.678G>T c.597G>T (p.Lys199Asn) c.681G>T (p.Lys227Asn) c.2670G>T (p.Lys890Asn) c.954G>T (p.Lys318Asn) | dbSNP |
| 2 | g.29209821C= | CA1241083945 | ALK | c.3801G= (p.Lys1267=) c.1028G= n.678G= c.597G= (p.Lys199=) c.681G= (p.Lys227=) c.2670G= (p.Lys890=) c.954G= (p.Lys318=) | |
| 2 | g.29209821C>G | CA346469653 | ALK | c.3801G>C (p.Lys1267Asn) c.1028G>C n.678G>C c.597G>C (p.Lys199Asn) c.681G>C (p.Lys227Asn) c.2670G>C (p.Lys890Asn) c.954G>C (p.Lys318Asn) | ClinVar dbSNP |
| 2 | g.29209821C>T | CA425434659 | ALK | c.3801G>A (p.Lys1267=) c.1028G>A n.678G>A c.597G>A (p.Lys199=) c.681G>A (p.Lys227=) c.2670G>A (p.Lys890=) c.954G>A (p.Lys318=) | dbSNP |
| 2 | g.29209822T>A | CA346469655 | ALK | c.3800A>T (p.Lys1267Met) c.1027A>T n.677A>T c.596A>T (p.Lys199Met) c.680A>T (p.Lys227Met) c.2669A>T (p.Lys890Met) c.953A>T (p.Lys318Met) | dbSNP |
| 2 | g.29209822T>C | CA346469659 | ALK | c.3800A>G (p.Lys1267Arg) c.1027A>G n.677A>G c.596A>G (p.Lys199Arg) c.680A>G (p.Lys227Arg) c.2669A>G (p.Lys890Arg) c.953A>G (p.Lys318Arg) | |
| 2 | g.29209822T>G | CA346469657 | ALK | c.3800A>C (p.Lys1267Thr) c.1027A>C n.677A>C c.596A>C (p.Lys199Thr) c.680A>C (p.Lys227Thr) c.2669A>C (p.Lys890Thr) c.953A>C (p.Lys318Thr) | |
| 2 | g.29209823T>A | CA346469661 | ALK | c.3799A>T (p.Lys1267Ter) c.1026A>T n.676A>T c.595A>T (p.Lys199Ter) c.679A>T (p.Lys227Ter) c.2668A>T (p.Lys890Ter) c.952A>T (p.Lys318Ter) | dbSNP |
| 2 | g.29209823T>C | CA346469663 | ALK | c.3799A>G (p.Lys1267Glu) c.1026A>G n.676A>G c.595A>G (p.Lys199Glu) c.679A>G (p.Lys227Glu) c.2668A>G (p.Lys890Glu) c.952A>G (p.Lys318Glu) | dbSNP |
| 2 | g.29209823T>G | CA346469665 | ALK | c.3799A>C (p.Lys1267Gln) c.1026A>C n.676A>C c.595A>C (p.Lys199Gln) c.679A>C (p.Lys227Gln) c.2668A>C (p.Lys890Gln) c.952A>C (p.Lys318Gln) | |
| 2 | g.29209824G>A | CA425434660 | ALK | c.3798C>T (p.Ala1266=) c.1025C>T n.675C>T c.594C>T (p.Ala198=) c.678C>T (p.Ala226=) c.2667C>T (p.Ala889=) c.951C>T (p.Ala317=) | ClinVar dbSNP |
| 2 | g.29209824G>C | CA425434661 | ALK | c.3798C>G (p.Ala1266=) c.1025C>G n.675C>G c.594C>G (p.Ala198=) c.678C>G (p.Ala226=) c.2667C>G (p.Ala889=) c.951C>G (p.Ala317=) | |
| 2 | g.29209824G= | CA1241083946 | ALK | c.3798C= (p.Ala1266=) c.1025C= n.675C= c.594C= (p.Ala198=) c.678C= (p.Ala226=) c.2667C= (p.Ala889=) c.951C= (p.Ala317=) | |
| 2 | g.29209824G>T | CA425434662 | ALK | c.3798C>A (p.Ala1266=) c.1025C>A n.675C>A c.594C>A (p.Ala198=) c.678C>A (p.Ala226=) c.2667C>A (p.Ala889=) c.951C>A (p.Ala317=) | ClinVar dbSNP |
| 2 | g.29209825G>A | CA346469667 | ALK | c.3797C>T (p.Ala1266Val) c.1024C>T n.674C>T c.593C>T (p.Ala198Val) c.677C>T (p.Ala226Val) c.2666C>T (p.Ala889Val) c.950C>T (p.Ala317Val) | |
| 2 | g.29209825G>C | CA346469669 | ALK | c.3797C>G (p.Ala1266Gly) c.1024C>G n.674C>G c.593C>G (p.Ala198Gly) c.677C>G (p.Ala226Gly) c.2666C>G (p.Ala889Gly) c.950C>G (p.Ala317Gly) | |
| 2 | g.29209825G>T | CA346469670 | ALK | c.3797C>A (p.Ala1266Asp) c.1024C>A n.674C>A c.593C>A (p.Ala198Asp) c.677C>A (p.Ala226Asp) c.2666C>A (p.Ala889Asp) c.950C>A (p.Ala317Asp) | |
| 2 | g.29209826C>A | CA346469672 | ALK | c.3796G>T (p.Ala1266Ser) c.1023G>T n.673G>T c.592G>T (p.Ala198Ser) c.676G>T (p.Ala226Ser) c.2665G>T (p.Ala889Ser) c.949G>T (p.Ala317Ser) | dbSNP |
| 2 | g.29209826C>G | CA346469674 | ALK | c.3796G>C (p.Ala1266Pro) c.1023G>C n.673G>C c.592G>C (p.Ala198Pro) c.676G>C (p.Ala226Pro) c.2665G>C (p.Ala889Pro) c.949G>C (p.Ala317Pro) | dbSNP |
| 2 | g.29209826C>T | CA346469676 | ALK | c.3796G>A (p.Ala1266Thr) c.1023G>A n.673G>A c.592G>A (p.Ala198Thr) c.676G>A (p.Ala226Thr) c.2665G>A (p.Ala889Thr) c.949G>A (p.Ala317Thr) | dbSNP |
| 2 | g.29209827C>A | CA425434664 | ALK | c.3795G>T (p.Val1265=) c.1022G>T n.672G>T c.591G>T (p.Val197=) c.675G>T (p.Val225=) c.2664G>T (p.Val888=) c.948G>T (p.Val316=) | dbSNP |
| 2 | g.29209827C>G | CA425434665 | ALK | c.3795G>C (p.Val1265=) c.1022G>C n.672G>C c.591G>C (p.Val197=) c.675G>C (p.Val225=) c.2664G>C (p.Val888=) c.948G>C (p.Val316=) | dbSNP |
| 2 | g.29209827C>T | CA425434666 | ALK | c.3795G>A (p.Val1265=) c.1022G>A n.672G>A c.591G>A (p.Val197=) c.675G>A (p.Val225=) c.2664G>A (p.Val888=) c.948G>A (p.Val316=) | ClinVar dbSNP |
| 2 | g.29209828A= | CA1241083947 | ALK | c.3794T= (p.Val1265=) c.1021T= n.671T= c.590T= (p.Val197=) c.674T= (p.Val225=) c.2663T= (p.Val888=) c.947T= (p.Val316=) | |
| 2 | g.29209828A>C | CA346469677 | ALK | c.3794T>G (p.Val1265Gly) c.1021T>G n.671T>G c.590T>G (p.Val197Gly) c.674T>G (p.Val225Gly) c.2663T>G (p.Val888Gly) c.947T>G (p.Val316Gly) | dbSNP |
| 2 | g.29209828A>G | CA346469679 | ALK | c.3794T>C (p.Val1265Ala) c.1021T>C n.671T>C c.590T>C (p.Val197Ala) c.674T>C (p.Val225Ala) c.2663T>C (p.Val888Ala) c.947T>C (p.Val316Ala) | ClinVar dbSNP |
| 2 | g.29209828A>T | CA346469681 | ALK | c.3794T>A (p.Val1265Glu) c.1021T>A n.671T>A c.590T>A (p.Val197Glu) c.674T>A (p.Val225Glu) c.2663T>A (p.Val888Glu) c.947T>A (p.Val316Glu) | dbSNP gnomAD v4 |
| 2 | g.29209829C>A | CA346469686 | ALK | c.3793G>T (p.Val1265Leu) c.1020G>T n.670G>T c.589G>T (p.Val197Leu) c.673G>T (p.Val225Leu) c.2662G>T (p.Val888Leu) c.946G>T (p.Val316Leu) | |
| 2 | g.29209829C= | CA1241083948 | ALK | c.3793G= (p.Val1265=) c.1020G= n.670G= c.589G= (p.Val197=) c.673G= (p.Val225=) c.2662G= (p.Val888=) c.946G= (p.Val316=) | |
| 2 | g.29209829C>G | CA346469683 | ALK | c.3793G>C (p.Val1265Leu) c.1020G>C n.670G>C c.589G>C (p.Val197Leu) c.673G>C (p.Val225Leu) c.2662G>C (p.Val888Leu) c.946G>C (p.Val316Leu) | ClinVar dbSNP gnomAD v4 |
| 2 | g.29209829C>T | CA1593780 | ALK | c.3793G>A (p.Val1265Met) c.1020G>A n.670G>A c.589G>A (p.Val197Met) c.673G>A (p.Val225Met) c.2662G>A (p.Val888Met) c.946G>A (p.Val316Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |