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 |
|---|---|---|---|---|---|
| 7 | g.107919249_107919252del | CA4434736 | DLD | c.1520_1523del (p.Ile507ThrfsTer?) c.*1194_*1197del (n.*1194_*1197del) c.1376_1379del (p.Ile459ThrfsTer?) c.1451_1454del (p.Ile484ThrfsTer?) c.1223_1226del (p.Ile408ThrfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919251A>C | CA368859700 | DLD | c.1522A>C (p.Asn508His) c.*1196A>C (n.*1196A>C) c.1378A>C (p.Asn460His) c.1453A>C (p.Asn485His) c.1225A>C (p.Asn409His) | |
| 7 | g.107919251A>G | CA368859702 | DLD | c.1522A>G (p.Asn508Asp) c.*1196A>G (n.*1196A>G) c.1378A>G (p.Asn460Asp) c.1453A>G (p.Asn485Asp) c.1225A>G (p.Asn409Asp) | |
| 7 | g.107919251A>T | CA368859701 | DLD | c.1522A>T (p.Asn508Tyr) c.*1196A>T (n.*1196A>T) c.1378A>T (p.Asn460Tyr) c.1453A>T (p.Asn485Tyr) c.1225A>T (p.Asn409Tyr) | |
| 7 | g.107919252A= | CA1732860821 | DLD | c.1523A= (p.Asn508=) c.*1197A= (n.*1197A=) c.1379A= (p.Asn460=) c.1454A= (p.Asn485=) c.1226A= (p.Asn409=) | |
| 7 | g.107919252A>C | CA368859703 | DLD | c.1523A>C (p.Asn508Thr) c.*1197A>C (n.*1197A>C) c.1379A>C (p.Asn460Thr) c.1454A>C (p.Asn485Thr) c.1226A>C (p.Asn409Thr) | |
| 7 | g.107919252A>G | CA4434738 | DLD | c.1523A>G (p.Asn508Ser) c.*1197A>G (n.*1197A>G) c.1379A>G (p.Asn460Ser) c.1454A>G (p.Asn485Ser) c.1226A>G (p.Asn409Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919252A>T | CA368859704 | DLD | c.1523A>T (p.Asn508Ile) c.*1197A>T (n.*1197A>T) c.1379A>T (p.Asn460Ile) c.1454A>T (p.Asn485Ile) c.1226A>T (p.Asn409Ile) | |
| 7 | g.107919253C>A | CA368859705 | DLD | c.1524C>A (p.Asn508Lys) c.*1198C>A (n.*1198C>A) c.1380C>A (p.Asn460Lys) c.1455C>A (p.Asn485Lys) c.1227C>A (p.Asn409Lys) | |
| 7 | g.107919253C= | CA1732860822 | DLD | c.1524C= (p.Asn508=) c.*1198C= (n.*1198C=) c.1380C= (p.Asn460=) c.1455C= (p.Asn485=) c.1227C= (p.Asn409=) | |
| 7 | g.107919253C>G | CA368859706 | DLD | c.1524C>G (p.Asn508Lys) c.*1198C>G (n.*1198C>G) c.1380C>G (p.Asn460Lys) c.1455C>G (p.Asn485Lys) c.1227C>G (p.Asn409Lys) | |
| 7 | g.107919253C>T | CA457109889 | DLD | c.1524C>T (p.Asn508=) c.*1198C>T (n.*1198C>T) c.1380C>T (p.Asn460=) c.1455C>T (p.Asn485=) c.1227C>T (p.Asn409=) | |
| 7 | g.107919254T>A | CA368859707 | DLD | c.1525T>A (p.Phe509Ile) c.*1199T>A (n.*1199T>A) c.1381T>A (p.Phe461Ile) c.1456T>A (p.Phe486Ile) c.1228T>A (p.Phe410Ile) | |
| 7 | g.107919254T>C | CA368859708 | DLD | c.1525T>C (p.Phe509Leu) c.*1199T>C (n.*1199T>C) c.1381T>C (p.Phe461Leu) c.1456T>C (p.Phe486Leu) c.1228T>C (p.Phe410Leu) | |
| 7 | g.107919254T>G | CA4434739 | DLD | c.1525T>G (p.Phe509Val) c.*1199T>G (n.*1199T>G) c.1381T>G (p.Phe461Val) c.1456T>G (p.Phe486Val) c.1228T>G (p.Phe410Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919254T= | CA1732860823 | DLD | c.1525T= (p.Phe509=) c.*1199T= (n.*1199T=) c.1381T= (p.Phe461=) c.1456T= (p.Phe486=) c.1228T= (p.Phe410=) | |
| 7 | g.107919257dup | CA913189685 | DLD | c.1528dup (p.Ter510LeuextTer3) c.*1202dup (n.*1202dup) c.1384dup (p.Ter462LeuextTer3) c.1459dup (p.Ter487LeuextTer3) c.1231dup (p.Ter411LeuextTer3) | ClinVar dbSNP |
| 7 | g.107919255T>A | CA368859709 | DLD | c.1526T>A (p.Phe509Tyr) c.*1200T>A (n.*1200T>A) c.1382T>A (p.Phe461Tyr) c.1457T>A (p.Phe486Tyr) c.1229T>A (p.Phe410Tyr) | |
| 7 | g.107919255T>C | CA368859710 | DLD | c.1526T>C (p.Phe509Ser) c.*1200T>C (n.*1200T>C) c.1382T>C (p.Phe461Ser) c.1457T>C (p.Phe486Ser) c.1229T>C (p.Phe410Ser) | |
| 7 | g.107919255T>G | CA368859711 | DLD | c.1526T>G (p.Phe509Cys) c.*1200T>G (n.*1200T>G) c.1382T>G (p.Phe461Cys) c.1457T>G (p.Phe486Cys) c.1229T>G (p.Phe410Cys) | |
| 7 | g.107919256T>A | CA368859712 | DLD | c.1527T>A (p.Phe509Leu) c.*1201T>A (n.*1201T>A) c.1383T>A (p.Phe461Leu) c.1458T>A (p.Phe486Leu) c.1230T>A (p.Phe410Leu) | |
| 7 | g.107919256T>C | CA457109890 | DLD | c.1527T>C (p.Phe509=) c.*1201T>C (n.*1201T>C) c.1383T>C (p.Phe461=) c.1458T>C (p.Phe486=) c.1230T>C (p.Phe410=) | ClinVar |
| 7 | g.107919256T>G | CA368859713 | DLD | c.1527T>G (p.Phe509Leu) c.*1201T>G (n.*1201T>G) c.1383T>G (p.Phe461Leu) c.1458T>G (p.Phe486Leu) c.1230T>G (p.Phe410Leu) | |
| 7 | g.107919257T>A | CA368859714 | DLD | c.1528T>A (p.Ter510Arg) c.*1202T>A (n.*1202T>A) c.1384T>A (p.Ter462Arg) c.1459T>A (p.Ter487Arg) c.1231T>A (p.Ter411Arg) | |
| 7 | g.107919257T>C | CA368859716 | DLD | c.1528T>C (p.Ter510Arg) c.*1202T>C (n.*1202T>C) c.1384T>C (p.Ter462Arg) c.1459T>C (p.Ter487Arg) c.1231T>C (p.Ter411Arg) | ClinVar dbSNP |
| 7 | g.107919257T>G | CA368859715 | DLD | c.1528T>G (p.Ter510Gly) c.*1202T>G (n.*1202T>G) c.1384T>G (p.Ter462Gly) c.1459T>G (p.Ter487Gly) c.1231T>G (p.Ter411Gly) | |
| 7 | g.107919257T= | CA1732860824 | DLD | c.1528T= (p.Ter510=) c.*1202T= (n.*1202T=) c.1384T= (p.Ter462=) c.1459T= (p.Ter487=) c.1231T= (p.Ter411=) | |
| 7 | g.107919258G>A | CA457109892 | DLD | c.1529G>A (p.Ter510=) c.*1203G>A (n.*1203G>A) c.1385G>A (p.Ter462=) c.1460G>A (p.Ter487=) c.1232G>A (p.Ter411=) | |
| 7 | g.107919258G>C | CA368859717 | DLD | c.1529G>C (p.Ter510Ser) c.*1203G>C (n.*1203G>C) c.1385G>C (p.Ter462Ser) c.1460G>C (p.Ter487Ser) c.1232G>C (p.Ter411Ser) | |
| 7 | g.107919258G>T | CA368859718 | DLD | c.1529G>T (p.Ter510Leu) c.*1203G>T (n.*1203G>T) c.1385G>T (p.Ter462Leu) c.1460G>T (p.Ter487Leu) c.1232G>T (p.Ter411Leu) | gnomAD v4 |
| 7 | g.107919259A>C | CA368859719 | DLD | c.1530A>C (p.Ter510Cys) c.*1204A>C (n.*1204A>C) c.1386A>C (p.Ter462Cys) c.1461A>C (p.Ter487Cys) c.1233A>C (p.Ter411Cys) | |
| 7 | g.107919259A>G | CA368859720 | DLD | c.1530A>G (p.Ter510Trp) c.*1204A>G (n.*1204A>G) c.1386A>G (p.Ter462Trp) c.1461A>G (p.Ter487Trp) c.1233A>G (p.Ter411Trp) | |
| 7 | g.107919259A>T | CA368859721 | DLD | c.1530A>T (p.Ter510Cys) c.*1204A>T (n.*1204A>T) c.1386A>T (p.Ter462Cys) c.1461A>T (p.Ter487Cys) c.1233A>T (p.Ter411Cys) | |
| 7 | g.107919260A>G | CA2684461124 | DLD | c.*1A>G (n.*1A>G) c.*1205A>G (n.*1205A>G) | gnomAD v4 |
| 7 | g.107919261T>C | CA4434740 | DLD | c.*2T>C (n.*2T>C) c.*1206T>C (n.*1206T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107919261T>G | CA2684461132 | DLD | c.*2T>G (n.*2T>G) c.*1206T>G (n.*1206T>G) | gnomAD v4 |
| 7 | g.107919261T= | CA1732860825 | DLD | c.*2T= (n.*2T=) c.*1206T= (n.*1206T=) | |
| 7 | g.107919262_107919265delinsTAGA | CA1732860826 | DLD | c.*3_*6delinsTAGA (n.*3_*6delinsTAGA) c.*1207_*1210delinsTAGA (n.*1207_*1210delinsTAGA) | |
| 7 | g.107919263A= | CA1732860827 | DLD | c.*4A= (n.*4A=) c.*1208A= (n.*1208A=) | |
| 7 | g.107919263A>G | CA831211265 | DLD | c.*4A>G (n.*4A>G) c.*1208A>G (n.*1208A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919266_107919268del | CA164259110 | DLD | c.*7_*9del (n.*7_*9del) c.*1211_*1213del (n.*1211_*1213del) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919264G>A | CA577039400 | DLD | c.*5G>A (n.*5G>A) c.*1209G>A (n.*1209G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107919264G= | CA1732860828 | DLD | c.*5G= (n.*5G=) c.*1209G= (n.*1209G=) | |
| 7 | g.107919264G>T | CA1105645730 | DLD | c.*5G>T (n.*5G>T) c.*1209G>T (n.*1209G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919266A>G | CA2684461139 | DLD | c.*7A>G (n.*7A>G) c.*1211A>G (n.*1211A>G) | gnomAD v4 |
| 7 | g.107919266_107919267delinsAG | CA1732860829 | DLD | c.*7_*8delinsAG (n.*7_*8delinsAG) c.*1211_*1212delinsAG (n.*1211_*1212delinsAG) | |
| 7 | g.107919267del | CA1105645742 | DLD | c.*8del (n.*8del) c.*1212del (n.*1212del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107919267G>T | CA2684461143 | DLD | c.*8G>T (n.*8G>T) c.*1212G>T (n.*1212G>T) | gnomAD v4 |
| 7 | g.107919270del | CA2684461147 | DLD | c.*11del (n.*11del) c.*1215del (n.*1215del) | gnomAD v4 |
| 7 | g.107919269_107919273delinsTTATA | CA1732860830 | DLD | c.*10_*14delinsTTATA (n.*10_*14delinsTTATA) c.*1214_*1218delinsTTATA (n.*1214_*1218delinsTTATA) |