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 |
|---|---|---|---|---|---|
| 16 | g.89282677_89282682dup | CA2634942517 | ANKRD11 | c.3860_3865dup (p.Ala1288_Leu1289insGlnAla) c.*3663_*3668dup (n.*3663_*3668dup) c.744+5846_744+5851dup (n.744+5846_744+5851dup) c.151+5846_151+5851dup c.3758_3763dup (p.Ala1254_Leu1255insGlnAla) c.3563_3568dup (p.Ala1189_Leu1190insGlnAla) c.3731_3736dup (p.Ala1245_Leu1246insGlnAla) | gnomAD v4 |
| 16 | g.89282680C>A | CA397158830 | ANKRD11 | c.3862G>T (p.Ala1288Ser) c.*3665G>T (n.*3665G>T) c.744+5848G>T (n.744+5848G>T) c.151+5848G>T c.3760G>T (p.Ala1254Ser) c.3565G>T (p.Ala1189Ser) c.3733G>T (p.Ala1245Ser) | |
| 16 | g.89282680C>G | CA397158831 | ANKRD11 | c.3862G>C (p.Ala1288Pro) c.*3665G>C (n.*3665G>C) c.744+5848G>C (n.744+5848G>C) c.151+5848G>C c.3760G>C (p.Ala1254Pro) c.3565G>C (p.Ala1189Pro) c.3733G>C (p.Ala1245Pro) | |
| 16 | g.89282680C>T | CA397158832 | ANKRD11 | c.3862G>A (p.Ala1288Thr) c.*3665G>A (n.*3665G>A) c.744+5848G>A (n.744+5848G>A) c.151+5848G>A c.3760G>A (p.Ala1254Thr) c.3565G>A (p.Ala1189Thr) c.3733G>A (p.Ala1245Thr) | COSMIC |
| 16 | g.89282681C>A | CA397158833 | ANKRD11 | c.3861G>T (p.Glu1287Asp) c.*3664G>T (n.*3664G>T) c.744+5847G>T (n.744+5847G>T) c.151+5847G>T c.3759G>T (p.Glu1253Asp) c.3564G>T (p.Glu1188Asp) c.3732G>T (p.Glu1244Asp) | |
| 16 | g.89282681C= | CA2241603406 | ANKRD11 | c.3861G= (p.Glu1287=) c.*3664G= (n.*3664G=) c.744+5847G= (n.744+5847G=) c.151+5847G= c.3759G= (p.Glu1253=) c.3564G= (p.Glu1188=) c.3732G= (p.Glu1244=) | |
| 16 | g.89282681C>G | CA397158834 | ANKRD11 | c.3861G>C (p.Glu1287Asp) c.*3664G>C (n.*3664G>C) c.744+5847G>C (n.744+5847G>C) c.151+5847G>C c.3759G>C (p.Glu1253Asp) c.3564G>C (p.Glu1188Asp) c.3732G>C (p.Glu1244Asp) | |
| 16 | g.89282681C>T | CA497374473 | ANKRD11 | c.3861G>A (p.Glu1287=) c.*3664G>A (n.*3664G>A) c.744+5847G>A (n.744+5847G>A) c.151+5847G>A c.3759G>A (p.Glu1253=) c.3564G>A (p.Glu1188=) c.3732G>A (p.Glu1244=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89282682T>A | CA397158835 | ANKRD11 | c.3860A>T (p.Glu1287Val) c.*3663A>T (n.*3663A>T) c.744+5846A>T (n.744+5846A>T) c.151+5846A>T c.3758A>T (p.Glu1253Val) c.3563A>T (p.Glu1188Val) c.3731A>T (p.Glu1244Val) | |
| 16 | g.89282682T>C | CA397158837 | ANKRD11 | c.3860A>G (p.Glu1287Gly) c.*3663A>G (n.*3663A>G) c.744+5846A>G (n.744+5846A>G) c.151+5846A>G c.3758A>G (p.Glu1253Gly) c.3563A>G (p.Glu1188Gly) c.3731A>G (p.Glu1244Gly) | |
| 16 | g.89282682T>G | CA397158836 | ANKRD11 | c.3860A>C (p.Glu1287Ala) c.*3663A>C (n.*3663A>C) c.744+5846A>C (n.744+5846A>C) c.151+5846A>C c.3758A>C (p.Glu1253Ala) c.3563A>C (p.Glu1188Ala) c.3731A>C (p.Glu1244Ala) | gnomAD v4 |
| 16 | g.89282683C>A | CA397158838 | ANKRD11 | c.3859G>T (p.Glu1287Ter) c.*3662G>T (n.*3662G>T) c.744+5845G>T (n.744+5845G>T) c.151+5845G>T c.3757G>T (p.Glu1253Ter) c.3562G>T (p.Glu1188Ter) c.3730G>T (p.Glu1244Ter) | |
| 16 | g.89282683C= | CA2241603408 | ANKRD11 | c.3859G= (p.Glu1287=) c.*3662G= (n.*3662G=) c.744+5845G= (n.744+5845G=) c.151+5845G= c.3757G= (p.Glu1253=) c.3562G= (p.Glu1188=) c.3730G= (p.Glu1244=) | |
| 16 | g.89282683C>G | CA397158839 | ANKRD11 | c.3859G>C (p.Glu1287Gln) c.*3662G>C (n.*3662G>C) c.744+5845G>C (n.744+5845G>C) c.151+5845G>C c.3757G>C (p.Glu1253Gln) c.3562G>C (p.Glu1188Gln) c.3730G>C (p.Glu1244Gln) | COSMIC |
| 16 | g.89282683C>T | CA8242275 | ANKRD11 | c.3859G>A (p.Glu1287Lys) c.*3662G>A (n.*3662G>A) c.744+5845G>A (n.744+5845G>A) c.151+5845G>A c.3757G>A (p.Glu1253Lys) c.3562G>A (p.Glu1188Lys) c.3730G>A (p.Glu1244Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282684T>A | CA397158840 | ANKRD11 | c.3858A>T (p.Glu1286Asp) c.*3661A>T (n.*3661A>T) c.744+5844A>T (n.744+5844A>T) c.151+5844A>T c.3756A>T (p.Glu1252Asp) c.3561A>T (p.Glu1187Asp) c.3729A>T (p.Glu1243Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89282684T>C | CA497374597 | ANKRD11 | c.3858A>G (p.Glu1286=) c.*3661A>G (n.*3661A>G) c.744+5844A>G (n.744+5844A>G) c.151+5844A>G c.3756A>G (p.Glu1252=) c.3561A>G (p.Glu1187=) c.3729A>G (p.Glu1243=) | gnomAD v4 |
| 16 | g.89282684T>G | CA397158841 | ANKRD11 | c.3858A>C (p.Glu1286Asp) c.*3661A>C (n.*3661A>C) c.744+5844A>C (n.744+5844A>C) c.151+5844A>C c.3756A>C (p.Glu1252Asp) c.3561A>C (p.Glu1187Asp) c.3729A>C (p.Glu1243Asp) | |
| 16 | g.89282684T= | CA2241603411 | ANKRD11 | c.3858A= (p.Glu1286=) c.*3661A= (n.*3661A=) c.744+5844A= (n.744+5844A=) c.151+5844A= c.3756A= (p.Glu1252=) c.3561A= (p.Glu1187=) c.3729A= (p.Glu1243=) | |
| 16 | g.89282685T>A | CA397158842 | ANKRD11 | c.3857A>T (p.Glu1286Val) c.*3660A>T (n.*3660A>T) c.744+5843A>T (n.744+5843A>T) c.151+5843A>T c.3755A>T (p.Glu1252Val) c.3560A>T (p.Glu1187Val) c.3728A>T (p.Glu1243Val) | |
| 16 | g.89282685T>C | CA397158843 | ANKRD11 | c.3857A>G (p.Glu1286Gly) c.*3660A>G (n.*3660A>G) c.744+5843A>G (n.744+5843A>G) c.151+5843A>G c.3755A>G (p.Glu1252Gly) c.3560A>G (p.Glu1187Gly) c.3728A>G (p.Glu1243Gly) | |
| 16 | g.89282685T>G | CA397158844 | ANKRD11 | c.3857A>C (p.Glu1286Ala) c.*3660A>C (n.*3660A>C) c.744+5843A>C (n.744+5843A>C) c.151+5843A>C c.3755A>C (p.Glu1252Ala) c.3560A>C (p.Glu1187Ala) c.3728A>C (p.Glu1243Ala) | gnomAD v4 |
| 16 | g.89282686C>A | CA397158845 | ANKRD11 | c.3856G>T (p.Glu1286Ter) c.*3659G>T (n.*3659G>T) c.744+5842G>T (n.744+5842G>T) c.151+5842G>T c.3754G>T (p.Glu1252Ter) c.3559G>T (p.Glu1187Ter) c.3727G>T (p.Glu1243Ter) | COSMIC |
| 16 | g.89282686C= | CA2241603412 | ANKRD11 | c.3856G= (p.Glu1286=) c.*3659G= (n.*3659G=) c.744+5842G= (n.744+5842G=) c.151+5842G= c.3754G= (p.Glu1252=) c.3559G= (p.Glu1187=) c.3727G= (p.Glu1243=) | |
| 16 | g.89282686C>G | CA397158846 | ANKRD11 | c.3856G>C (p.Glu1286Gln) c.*3659G>C (n.*3659G>C) c.744+5842G>C (n.744+5842G>C) c.151+5842G>C c.3754G>C (p.Glu1252Gln) c.3559G>C (p.Glu1187Gln) c.3727G>C (p.Glu1243Gln) | |
| 16 | g.89282686C>T | CA8242276 | ANKRD11 | c.3856G>A (p.Glu1286Lys) c.*3659G>A (n.*3659G>A) c.744+5842G>A (n.744+5842G>A) c.151+5842G>A c.3754G>A (p.Glu1252Lys) c.3559G>A (p.Glu1187Lys) c.3727G>A (p.Glu1243Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89282687T>A | CA397158847 | ANKRD11 | c.3855A>T (p.Glu1285Asp) c.*3658A>T (n.*3658A>T) c.744+5841A>T (n.744+5841A>T) c.151+5841A>T c.3753A>T (p.Glu1251Asp) c.3558A>T (p.Glu1186Asp) c.3726A>T (p.Glu1242Asp) | |
| 16 | g.89282687T>C | CA497374599 | ANKRD11 | c.3855A>G (p.Glu1285=) c.*3658A>G (n.*3658A>G) c.744+5841A>G (n.744+5841A>G) c.151+5841A>G c.3753A>G (p.Glu1251=) c.3558A>G (p.Glu1186=) c.3726A>G (p.Glu1242=) | |
| 16 | g.89282687T>G | CA397158848 | ANKRD11 | c.3855A>C (p.Glu1285Asp) c.*3658A>C (n.*3658A>C) c.744+5841A>C (n.744+5841A>C) c.151+5841A>C c.3753A>C (p.Glu1251Asp) c.3558A>C (p.Glu1186Asp) c.3726A>C (p.Glu1242Asp) | |
| 16 | g.89282688T>A | CA397158849 | ANKRD11 | c.3854A>T (p.Glu1285Val) c.*3657A>T (n.*3657A>T) c.744+5840A>T (n.744+5840A>T) c.151+5840A>T c.3752A>T (p.Glu1251Val) c.3557A>T (p.Glu1186Val) c.3725A>T (p.Glu1242Val) | |
| 16 | g.89282688T>C | CA397158851 | ANKRD11 | c.3854A>G (p.Glu1285Gly) c.*3657A>G (n.*3657A>G) c.744+5840A>G (n.744+5840A>G) c.151+5840A>G c.3752A>G (p.Glu1251Gly) c.3557A>G (p.Glu1186Gly) c.3725A>G (p.Glu1242Gly) | |
| 16 | g.89282688T>G | CA397158850 | ANKRD11 | c.3854A>C (p.Glu1285Ala) c.*3657A>C (n.*3657A>C) c.744+5840A>C (n.744+5840A>C) c.151+5840A>C c.3752A>C (p.Glu1251Ala) c.3557A>C (p.Glu1186Ala) c.3725A>C (p.Glu1242Ala) | |
| 16 | g.89282689C>A | CA397158852 | ANKRD11 | c.3853G>T (p.Glu1285Ter) c.*3656G>T (n.*3656G>T) c.744+5839G>T (n.744+5839G>T) c.151+5839G>T c.3751G>T (p.Glu1251Ter) c.3556G>T (p.Glu1186Ter) c.3724G>T (p.Glu1242Ter) | |
| 16 | g.89282689C>G | CA397158853 | ANKRD11 | c.3853G>C (p.Glu1285Gln) c.*3656G>C (n.*3656G>C) c.744+5839G>C (n.744+5839G>C) c.151+5839G>C c.3751G>C (p.Glu1251Gln) c.3556G>C (p.Glu1186Gln) c.3724G>C (p.Glu1242Gln) | |
| 16 | g.89282689C>T | CA397158854 | ANKRD11 | c.3853G>A (p.Glu1285Lys) c.*3656G>A (n.*3656G>A) c.744+5839G>A (n.744+5839G>A) c.151+5839G>A c.3751G>A (p.Glu1251Lys) c.3556G>A (p.Glu1186Lys) c.3724G>A (p.Glu1242Lys) | |
| 16 | g.89282690C>A | CA397158855 | ANKRD11 | c.3852G>T (p.Leu1284Phe) c.*3655G>T (n.*3655G>T) c.744+5838G>T (n.744+5838G>T) c.151+5838G>T c.3750G>T (p.Leu1250Phe) c.3555G>T (p.Leu1185Phe) c.3723G>T (p.Leu1241Phe) | |
| 16 | g.89282690C>G | CA397158856 | ANKRD11 | c.3852G>C (p.Leu1284Phe) c.*3655G>C (n.*3655G>C) c.744+5838G>C (n.744+5838G>C) c.151+5838G>C c.3750G>C (p.Leu1250Phe) c.3555G>C (p.Leu1185Phe) c.3723G>C (p.Leu1241Phe) | |
| 16 | g.89282690C>T | CA497374601 | ANKRD11 | c.3852G>A (p.Leu1284=) c.*3655G>A (n.*3655G>A) c.744+5838G>A (n.744+5838G>A) c.151+5838G>A c.3750G>A (p.Leu1250=) c.3555G>A (p.Leu1185=) c.3723G>A (p.Leu1241=) | |
| 16 | g.89282691A>C | CA397158857 | ANKRD11 | c.3851T>G (p.Leu1284Trp) c.*3654T>G (n.*3654T>G) c.744+5837T>G (n.744+5837T>G) c.151+5837T>G c.3749T>G (p.Leu1250Trp) c.3554T>G (p.Leu1185Trp) c.3722T>G (p.Leu1241Trp) | |
| 16 | g.89282691A>G | CA397158858 | ANKRD11 | c.3851T>C (p.Leu1284Ser) c.*3654T>C (n.*3654T>C) c.744+5837T>C (n.744+5837T>C) c.151+5837T>C c.3749T>C (p.Leu1250Ser) c.3554T>C (p.Leu1185Ser) c.3722T>C (p.Leu1241Ser) | |
| 16 | g.89282691A>T | CA397158859 | ANKRD11 | c.3851T>A (p.Leu1284Ter) c.*3654T>A (n.*3654T>A) c.744+5837T>A (n.744+5837T>A) c.151+5837T>A c.3749T>A (p.Leu1250Ter) c.3554T>A (p.Leu1185Ter) c.3722T>A (p.Leu1241Ter) | |
| 16 | g.89282692A>C | CA397158860 | ANKRD11 | c.3850T>G (p.Leu1284Val) c.*3653T>G (n.*3653T>G) c.744+5836T>G (n.744+5836T>G) c.151+5836T>G c.3748T>G (p.Leu1250Val) c.3553T>G (p.Leu1185Val) c.3721T>G (p.Leu1241Val) | |
| 16 | g.89282692A>G | CA497374602 | ANKRD11 | c.3850T>C (p.Leu1284=) c.*3653T>C (n.*3653T>C) c.744+5836T>C (n.744+5836T>C) c.151+5836T>C c.3748T>C (p.Leu1250=) c.3553T>C (p.Leu1185=) c.3721T>C (p.Leu1241=) | |
| 16 | g.89282692A>T | CA397158861 | ANKRD11 | c.3850T>A (p.Leu1284Met) c.*3653T>A (n.*3653T>A) c.744+5836T>A (n.744+5836T>A) c.151+5836T>A c.3748T>A (p.Leu1250Met) c.3553T>A (p.Leu1185Met) c.3721T>A (p.Leu1241Met) | |
| 16 | g.89282693C>A | CA397158863 | ANKRD11 | c.3849G>T (p.Lys1283Asn) c.*3652G>T (n.*3652G>T) c.744+5835G>T (n.744+5835G>T) c.151+5835G>T c.3747G>T (p.Lys1249Asn) c.3552G>T (p.Lys1184Asn) c.3720G>T (p.Lys1240Asn) | gnomAD v4 |
| 16 | g.89282693C>G | CA397158862 | ANKRD11 | c.3849G>C (p.Lys1283Asn) c.*3652G>C (n.*3652G>C) c.744+5835G>C (n.744+5835G>C) c.151+5835G>C c.3747G>C (p.Lys1249Asn) c.3552G>C (p.Lys1184Asn) c.3720G>C (p.Lys1240Asn) | gnomAD v4 |
| 16 | g.89282693C>T | CA497374603 | ANKRD11 | c.3849G>A (p.Lys1283=) c.*3652G>A (n.*3652G>A) c.744+5835G>A (n.744+5835G>A) c.151+5835G>A c.3747G>A (p.Lys1249=) c.3552G>A (p.Lys1184=) c.3720G>A (p.Lys1240=) | gnomAD v4 |
| 16 | g.89282694T>A | CA397158864 | ANKRD11 | c.3848A>T (p.Lys1283Met) c.*3651A>T (n.*3651A>T) c.744+5834A>T (n.744+5834A>T) c.151+5834A>T c.3746A>T (p.Lys1249Met) c.3551A>T (p.Lys1184Met) c.3719A>T (p.Lys1240Met) | |
| 16 | g.89282694T>C | CA397158865 | ANKRD11 | c.3848A>G (p.Lys1283Arg) c.*3651A>G (n.*3651A>G) c.744+5834A>G (n.744+5834A>G) c.151+5834A>G c.3746A>G (p.Lys1249Arg) c.3551A>G (p.Lys1184Arg) c.3719A>G (p.Lys1240Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89282694T>G | CA397158866 | ANKRD11 | c.3848A>C (p.Lys1283Thr) c.*3651A>C (n.*3651A>C) c.744+5834A>C (n.744+5834A>C) c.151+5834A>C c.3746A>C (p.Lys1249Thr) c.3551A>C (p.Lys1184Thr) c.3719A>C (p.Lys1240Thr) |