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.21010430dup | CA645539128 | APOB | c.6443dup (p.Tyr2149ValfsTer2) c.5869+308dup (n.5869+308dup) | gnomAD v4 COSMIC |
| 2 | g.21010430del | CA2493476702 | APOB | c.6443del (p.Lys2148SerfsTer13) c.5869+308del (n.5869+308del) | dbSNP gnomAD v4 |
| 2 | g.21010427T>A | CA346001749 | APOB | c.6441A>T (p.Lys2147Asn) c.5869+306A>T (n.5869+306A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21010427T>C | CA425345843 | APOB | c.6441A>G (p.Lys2147=) c.5869+306A>G (n.5869+306A>G) | |
| 2 | g.21010427T>G | CA346001750 | APOB | c.6441A>C (p.Lys2147Asn) c.5869+306A>C (n.5869+306A>C) | |
| 2 | g.21010427T= | CA2493476704 | APOB | c.6441A= (p.Lys2147=) c.5869+306A= (n.5869+306A=) | |
| 2 | g.21010428T>A | CA346001751 | APOB | c.6440A>T (p.Lys2147Ile) c.5869+305A>T (n.5869+305A>T) | |
| 2 | g.21010428T>C | CA346001752 | APOB | c.6440A>G (p.Lys2147Arg) c.5869+305A>G (n.5869+305A>G) | |
| 2 | g.21010428T>G | CA346001753 | APOB | c.6440A>C (p.Lys2147Thr) c.5869+305A>C (n.5869+305A>C) | |
| 2 | g.21010429T>A | CA346001754 | APOB | c.6439A>T (p.Lys2147Ter) c.5869+304A>T (n.5869+304A>T) | |
| 2 | g.21010429T>C | CA346001755 | APOB | c.6439A>G (p.Lys2147Glu) c.5869+304A>G (n.5869+304A>G) | |
| 2 | g.21010429T>G | CA346001756 | APOB | c.6439A>C (p.Lys2147Gln) c.5869+304A>C (n.5869+304A>C) | |
| 2 | g.21010430T>A | CA425345846 | APOB | c.6438A>T (p.Thr2146=) c.5869+303A>T (n.5869+303A>T) | |
| 2 | g.21010430T>C | CA425345847 | APOB | c.6438A>G (p.Thr2146=) c.5869+303A>G (n.5869+303A>G) | |
| 2 | g.21010430T>G | CA425345848 | APOB | c.6438A>C (p.Thr2146=) c.5869+303A>C (n.5869+303A>C) | |
| 2 | g.21010431G>A | CA346001757 | APOB | c.6437C>T (p.Thr2146Ile) c.5869+302C>T (n.5869+302C>T) | |
| 2 | g.21010431G>C | CA346001758 | APOB | c.6437C>G (p.Thr2146Arg) c.5869+302C>G (n.5869+302C>G) | |
| 2 | g.21010431G>T | CA346001759 | APOB | c.6437C>A (p.Thr2146Lys) c.5869+302C>A (n.5869+302C>A) | gnomAD v4 |
| 2 | g.21010432_21010455del | CA2547988098 | APOB | c.6414_6437del (p.Lys2139_Thr2146del) c.5869+279_5869+302del (n.5869+279_5869+302del) | |
| 2 | g.21010432T>A | CA346001760 | APOB | c.6436A>T (p.Thr2146Ser) c.5869+301A>T (n.5869+301A>T) | |
| 2 | g.21010432T>C | CA346001761 | APOB | c.6436A>G (p.Thr2146Ala) c.5869+301A>G (n.5869+301A>G) | gnomAD v4 |
| 2 | g.21010432T>G | CA346001762 | APOB | c.6436A>C (p.Thr2146Pro) c.5869+301A>C (n.5869+301A>C) | |
| 2 | g.21010433G>A | CA43505383 | APOB | c.6435C>T (p.Leu2145=) c.5869+300C>T (n.5869+300C>T) | dbSNP |
| 2 | g.21010433G>C | CA425345854 | APOB | c.6435C>G (p.Leu2145=) c.5869+300C>G (n.5869+300C>G) | ClinVar dbSNP |
| 2 | g.21010433G= | CA2493476705 | APOB | c.6435C= (p.Leu2145=) c.5869+300C= (n.5869+300C=) | |
| 2 | g.21010433G>T | CA425345856 | APOB | c.6435C>A (p.Leu2145=) c.5869+300C>A (n.5869+300C>A) | gnomAD v4 COSMIC |
| 2 | g.21010433_21010440del | CA2658056050 | APOB | c.6428_6435del (p.Thr2143AsnfsTer5) c.5869+293_5869+300del (n.5869+293_5869+300del) | gnomAD v4 |
| 2 | g.21010434A>C | CA346001763 | APOB | c.6434T>G (p.Leu2145Arg) c.5869+299T>G (n.5869+299T>G) | |
| 2 | g.21010434A>G | CA346001765 | APOB | c.6434T>C (p.Leu2145Pro) c.5869+299T>C (n.5869+299T>C) | |
| 2 | g.21010434A>T | CA346001764 | APOB | c.6434T>A (p.Leu2145His) c.5869+299T>A (n.5869+299T>A) | |
| 2 | g.21010435G>A | CA346001766 | APOB | c.6433C>T (p.Leu2145Phe) c.5869+298C>T (n.5869+298C>T) | gnomAD v4 |
| 2 | g.21010435G>C | CA346001768 | APOB | c.6433C>G (p.Leu2145Val) c.5869+298C>G (n.5869+298C>G) | |
| 2 | g.21010435G>T | CA346001767 | APOB | c.6433C>A (p.Leu2145Ile) c.5869+298C>A (n.5869+298C>A) | |
| 2 | g.21010436A>C | CA425345911 | APOB | c.6432T>G (p.Ala2144=) c.5869+297T>G (n.5869+297T>G) | |
| 2 | g.21010436A>G | CA425345912 | APOB | c.6432T>C (p.Ala2144=) c.5869+297T>C (n.5869+297T>C) | |
| 2 | g.21010436A>T | CA425345913 | APOB | c.6432T>A (p.Ala2144=) c.5869+297T>A (n.5869+297T>A) | |
| 2 | g.21010437G>A | CA346001769 | APOB | c.6431C>T (p.Ala2144Val) c.5869+296C>T (n.5869+296C>T) | gnomAD v4 |
| 2 | g.21010437G>C | CA346001771 | APOB | c.6431C>G (p.Ala2144Gly) c.5869+296C>G (n.5869+296C>G) | |
| 2 | g.21010437G>T | CA346001770 | APOB | c.6431C>A (p.Ala2144Asp) c.5869+296C>A (n.5869+296C>A) | |
| 2 | g.21010438C>A | CA346001772 | APOB | c.6430G>T (p.Ala2144Ser) c.5869+295G>T (n.5869+295G>T) | gnomAD v4 COSMIC |
| 2 | g.21010438C= | CA2493476706 | APOB | c.6430G= (p.Ala2144=) c.5869+295G= (n.5869+295G=) | |
| 2 | g.21010438C>G | CA346001774 | APOB | c.6430G>C (p.Ala2144Pro) c.5869+295G>C (n.5869+295G>C) | |
| 2 | g.21010438C>T | CA346001773 | APOB | c.6430G>A (p.Ala2144Thr) c.5869+295G>A (n.5869+295G>A) | dbSNP |
| 2 | g.21010442_21010445del | CA2658056051 | APOB | c.6427_6430del (p.Thr2143LeufsTer17) c.5869+292_5869+295del (n.5869+292_5869+295del) | gnomAD v4 |
| 2 | g.21010439A>C | CA425345921 | APOB | c.6429T>G (p.Thr2143=) c.5869+294T>G (n.5869+294T>G) | |
| 2 | g.21010439A>G | CA425345917 | APOB | c.6429T>C (p.Thr2143=) c.5869+294T>C (n.5869+294T>C) | |
| 2 | g.21010439A>T | CA425345918 | APOB | c.6429T>A (p.Thr2143=) c.5869+294T>A (n.5869+294T>A) | |
| 2 | g.21010440G>A | CA346001775 | APOB | c.6428C>T (p.Thr2143Ile) c.5869+293C>T (n.5869+293C>T) | |
| 2 | g.21010440G>C | CA346001776 | APOB | c.6428C>G (p.Thr2143Ser) c.5869+293C>G (n.5869+293C>G) | |
| 2 | g.21010440G>T | CA346001777 | APOB | c.6428C>A (p.Thr2143Asn) c.5869+293C>A (n.5869+293C>A) |