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.89280232C>A | CA397151401 | ANKRD11 | c.6310G>T (p.Asp2104Tyr) c.*6113G>T (n.*6113G>T) c.745-5041G>T (n.745-5041G>T) c.152-5041G>T c.6208G>T (p.Asp2070Tyr) c.6013G>T (p.Asp2005Tyr) c.6181G>T (p.Asp2061Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89280232C= | CA2241587260 | ANKRD11 | c.6310G= (p.Asp2104=) c.*6113G= (n.*6113G=) c.745-5041G= (n.745-5041G=) c.152-5041G= c.6208G= (p.Asp2070=) c.6013G= (p.Asp2005=) c.6181G= (p.Asp2061=) | |
| 16 | g.89280232C>G | CA397151402 | ANKRD11 | c.6310G>C (p.Asp2104His) c.*6113G>C (n.*6113G>C) c.745-5041G>C (n.745-5041G>C) c.152-5041G>C c.6208G>C (p.Asp2070His) c.6013G>C (p.Asp2005His) c.6181G>C (p.Asp2061His) | |
| 16 | g.89280232C>T | CA397151403 | ANKRD11 | c.6310G>A (p.Asp2104Asn) c.*6113G>A (n.*6113G>A) c.745-5041G>A (n.745-5041G>A) c.152-5041G>A c.6208G>A (p.Asp2070Asn) c.6013G>A (p.Asp2005Asn) c.6181G>A (p.Asp2061Asn) | gnomAD v4 |
| 16 | g.89280233C>A | CA497373446 | ANKRD11 | c.6309G>T (p.Leu2103=) c.*6112G>T (n.*6112G>T) c.745-5042G>T (n.745-5042G>T) c.152-5042G>T c.6207G>T (p.Leu2069=) c.6012G>T (p.Leu2004=) c.6180G>T (p.Leu2060=) | |
| 16 | g.89280233C= | CA2241587261 | ANKRD11 | c.6309G= (p.Leu2103=) c.*6112G= (n.*6112G=) c.745-5042G= (n.745-5042G=) c.152-5042G= c.6207G= (p.Leu2069=) c.6012G= (p.Leu2004=) c.6180G= (p.Leu2060=) | |
| 16 | g.89280233C>G | CA497373447 | ANKRD11 | c.6309G>C (p.Leu2103=) c.*6112G>C (n.*6112G>C) c.745-5042G>C (n.745-5042G>C) c.152-5042G>C c.6207G>C (p.Leu2069=) c.6012G>C (p.Leu2004=) c.6180G>C (p.Leu2060=) | |
| 16 | g.89280233C>T | CA497373449 | ANKRD11 | c.6309G>A (p.Leu2103=) c.*6112G>A (n.*6112G>A) c.745-5042G>A (n.745-5042G>A) c.152-5042G>A c.6207G>A (p.Leu2069=) c.6012G>A (p.Leu2004=) c.6180G>A (p.Leu2060=) | dbSNP gnomAD v2 |
| 16 | g.89280234A= | CA2241587262 | ANKRD11 | c.6308T= (p.Leu2103=) c.*6111T= (n.*6111T=) c.745-5043T= (n.745-5043T=) c.152-5043T= c.6206T= (p.Leu2069=) c.6011T= (p.Leu2004=) c.6179T= (p.Leu2060=) | |
| 16 | g.89280234A>C | CA397151406 | ANKRD11 | c.6308T>G (p.Leu2103Arg) c.*6111T>G (n.*6111T>G) c.745-5043T>G (n.745-5043T>G) c.152-5043T>G c.6206T>G (p.Leu2069Arg) c.6011T>G (p.Leu2004Arg) c.6179T>G (p.Leu2060Arg) | |
| 16 | g.89280234A>G | CA397151405 | ANKRD11 | c.6308T>C (p.Leu2103Pro) c.*6111T>C (n.*6111T>C) c.745-5043T>C (n.745-5043T>C) c.152-5043T>C c.6206T>C (p.Leu2069Pro) c.6011T>C (p.Leu2004Pro) c.6179T>C (p.Leu2060Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89280234A>T | CA397151404 | ANKRD11 | c.6308T>A (p.Leu2103Gln) c.*6111T>A (n.*6111T>A) c.745-5043T>A (n.745-5043T>A) c.152-5043T>A c.6206T>A (p.Leu2069Gln) c.6011T>A (p.Leu2004Gln) c.6179T>A (p.Leu2060Gln) | |
| 16 | g.89280235G>A | CA497373451 | ANKRD11 | c.6307C>T (p.Leu2103=) c.*6110C>T (n.*6110C>T) c.745-5044C>T (n.745-5044C>T) c.152-5044C>T c.6205C>T (p.Leu2069=) c.6010C>T (p.Leu2004=) c.6178C>T (p.Leu2060=) | dbSNP gnomAD v4 COSMIC |
| 16 | g.89280235G>C | CA8241502 | ANKRD11 | c.6307C>G (p.Leu2103Val) c.*6110C>G (n.*6110C>G) c.745-5044C>G (n.745-5044C>G) c.152-5044C>G c.6205C>G (p.Leu2069Val) c.6010C>G (p.Leu2004Val) c.6178C>G (p.Leu2060Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280235G= | CA2241587263 | ANKRD11 | c.6307C= (p.Leu2103=) c.*6110C= (n.*6110C=) c.745-5044C= (n.745-5044C=) c.152-5044C= c.6205C= (p.Leu2069=) c.6010C= (p.Leu2004=) c.6178C= (p.Leu2060=) | |
| 16 | g.89280235G>T | CA397151407 | ANKRD11 | c.6307C>A (p.Leu2103Met) c.*6110C>A (n.*6110C>A) c.745-5044C>A (n.745-5044C>A) c.152-5044C>A c.6205C>A (p.Leu2069Met) c.6010C>A (p.Leu2004Met) c.6178C>A (p.Leu2060Met) | gnomAD v4 |
| 16 | g.89280236G>A | CA8241503 | ANKRD11 | c.6306C>T (p.Phe2102=) c.*6109C>T (n.*6109C>T) c.745-5045C>T (n.745-5045C>T) c.152-5045C>T c.6204C>T (p.Phe2068=) c.6009C>T (p.Phe2003=) c.6177C>T (p.Phe2059=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280236G>C | CA397151408 | ANKRD11 | c.6306C>G (p.Phe2102Leu) c.*6109C>G (n.*6109C>G) c.745-5045C>G (n.745-5045C>G) c.152-5045C>G c.6204C>G (p.Phe2068Leu) c.6009C>G (p.Phe2003Leu) c.6177C>G (p.Phe2059Leu) | |
| 16 | g.89280236G= | CA2241587264 | ANKRD11 | c.6306C= (p.Phe2102=) c.*6109C= (n.*6109C=) c.745-5045C= (n.745-5045C=) c.152-5045C= c.6204C= (p.Phe2068=) c.6009C= (p.Phe2003=) c.6177C= (p.Phe2059=) | |
| 16 | g.89280236G>T | CA397151409 | ANKRD11 | c.6306C>A (p.Phe2102Leu) c.*6109C>A (n.*6109C>A) c.745-5045C>A (n.745-5045C>A) c.152-5045C>A c.6204C>A (p.Phe2068Leu) c.6009C>A (p.Phe2003Leu) c.6177C>A (p.Phe2059Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89280237A= | CA2241587265 | ANKRD11 | c.6305T= (p.Phe2102=) c.*6108T= (n.*6108T=) c.745-5046T= (n.745-5046T=) c.152-5046T= c.6203T= (p.Phe2068=) c.6008T= (p.Phe2003=) c.6176T= (p.Phe2059=) | |
| 16 | g.89280237A>C | CA397151410 | ANKRD11 | c.6305T>G (p.Phe2102Cys) c.*6108T>G (n.*6108T>G) c.745-5046T>G (n.745-5046T>G) c.152-5046T>G c.6203T>G (p.Phe2068Cys) c.6008T>G (p.Phe2003Cys) c.6176T>G (p.Phe2059Cys) | |
| 16 | g.89280237A>G | CA397151411 | ANKRD11 | c.6305T>C (p.Phe2102Ser) c.*6108T>C (n.*6108T>C) c.745-5046T>C (n.745-5046T>C) c.152-5046T>C c.6203T>C (p.Phe2068Ser) c.6008T>C (p.Phe2003Ser) c.6176T>C (p.Phe2059Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89280237A>T | CA397151412 | ANKRD11 | c.6305T>A (p.Phe2102Tyr) c.*6108T>A (n.*6108T>A) c.745-5046T>A (n.745-5046T>A) c.152-5046T>A c.6203T>A (p.Phe2068Tyr) c.6008T>A (p.Phe2003Tyr) c.6176T>A (p.Phe2059Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280238A= | CA2241587266 | ANKRD11 | c.6304T= (p.Phe2102=) c.*6107T= (n.*6107T=) c.745-5047T= (n.745-5047T=) c.152-5047T= c.6202T= (p.Phe2068=) c.6007T= (p.Phe2003=) c.6175T= (p.Phe2059=) | |
| 16 | g.89280238A>C | CA397151413 | ANKRD11 | c.6304T>G (p.Phe2102Val) c.*6107T>G (n.*6107T>G) c.745-5047T>G (n.745-5047T>G) c.152-5047T>G c.6202T>G (p.Phe2068Val) c.6007T>G (p.Phe2003Val) c.6175T>G (p.Phe2059Val) | |
| 16 | g.89280238A>G | CA397151414 | ANKRD11 | c.6304T>C (p.Phe2102Leu) c.*6107T>C (n.*6107T>C) c.745-5047T>C (n.745-5047T>C) c.152-5047T>C c.6202T>C (p.Phe2068Leu) c.6007T>C (p.Phe2003Leu) c.6175T>C (p.Phe2059Leu) | dbSNP gnomAD v4 |
| 16 | g.89280238A>T | CA397151415 | ANKRD11 | c.6304T>A (p.Phe2102Ile) c.*6107T>A (n.*6107T>A) c.745-5047T>A (n.745-5047T>A) c.152-5047T>A c.6202T>A (p.Phe2068Ile) c.6007T>A (p.Phe2003Ile) c.6175T>A (p.Phe2059Ile) | |
| 16 | g.89280239G>A | CA497373455 | ANKRD11 | c.6303C>T (p.Ser2101=) c.*6106C>T (n.*6106C>T) c.745-5048C>T (n.745-5048C>T) c.152-5048C>T c.6201C>T (p.Ser2067=) c.6006C>T (p.Ser2002=) c.6174C>T (p.Ser2058=) | |
| 16 | g.89280239G>C | CA397151416 | ANKRD11 | c.6303C>G (p.Ser2101Arg) c.*6106C>G (n.*6106C>G) c.745-5048C>G (n.745-5048C>G) c.152-5048C>G c.6201C>G (p.Ser2067Arg) c.6006C>G (p.Ser2002Arg) c.6174C>G (p.Ser2058Arg) | |
| 16 | g.89280239G>T | CA397151417 | ANKRD11 | c.6303C>A (p.Ser2101Arg) c.*6106C>A (n.*6106C>A) c.745-5048C>A (n.745-5048C>A) c.152-5048C>A c.6201C>A (p.Ser2067Arg) c.6006C>A (p.Ser2002Arg) c.6174C>A (p.Ser2058Arg) | gnomAD v4 |
| 16 | g.89280240C>A | CA397151418 | ANKRD11 | c.6302G>T (p.Ser2101Ile) c.*6105G>T (n.*6105G>T) c.745-5049G>T (n.745-5049G>T) c.152-5049G>T c.6200G>T (p.Ser2067Ile) c.6005G>T (p.Ser2002Ile) c.6173G>T (p.Ser2058Ile) | gnomAD v4 |
| 16 | g.89280240C= | CA2241587267 | ANKRD11 | c.6302G= (p.Ser2101=) c.*6105G= (n.*6105G=) c.745-5049G= (n.745-5049G=) c.152-5049G= c.6200G= (p.Ser2067=) c.6005G= (p.Ser2002=) c.6173G= (p.Ser2058=) | |
| 16 | g.89280240C>G | CA397151419 | ANKRD11 | c.6302G>C (p.Ser2101Thr) c.*6105G>C (n.*6105G>C) c.745-5049G>C (n.745-5049G>C) c.152-5049G>C c.6200G>C (p.Ser2067Thr) c.6005G>C (p.Ser2002Thr) c.6173G>C (p.Ser2058Thr) | gnomAD v4 |
| 16 | g.89280240C>T | CA8241504 | ANKRD11 | c.6302G>A (p.Ser2101Asn) c.*6105G>A (n.*6105G>A) c.745-5049G>A (n.745-5049G>A) c.152-5049G>A c.6200G>A (p.Ser2067Asn) c.6005G>A (p.Ser2002Asn) c.6173G>A (p.Ser2058Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89280241T>A | CA397151420 | ANKRD11 | c.6301A>T (p.Ser2101Cys) c.*6104A>T (n.*6104A>T) c.745-5050A>T (n.745-5050A>T) c.152-5050A>T c.6199A>T (p.Ser2067Cys) c.6004A>T (p.Ser2002Cys) c.6172A>T (p.Ser2058Cys) | |
| 16 | g.89280241T>C | CA397151422 | ANKRD11 | c.6301A>G (p.Ser2101Gly) c.*6104A>G (n.*6104A>G) c.745-5050A>G (n.745-5050A>G) c.152-5050A>G c.6199A>G (p.Ser2067Gly) c.6004A>G (p.Ser2002Gly) c.6172A>G (p.Ser2058Gly) | |
| 16 | g.89280241T>G | CA397151421 | ANKRD11 | c.6301A>C (p.Ser2101Arg) c.*6104A>C (n.*6104A>C) c.745-5050A>C (n.745-5050A>C) c.152-5050A>C c.6199A>C (p.Ser2067Arg) c.6004A>C (p.Ser2002Arg) c.6172A>C (p.Ser2058Arg) | |
| 16 | g.89280242A= | CA2241587268 | ANKRD11 | c.6300T= (p.Asn2100=) c.*6103T= (n.*6103T=) c.745-5051T= (n.745-5051T=) c.152-5051T= c.6198T= (p.Asn2066=) c.6003T= (p.Asn2001=) c.6171T= (p.Asn2057=) | |
| 16 | g.89280242A>C | CA397151423 | ANKRD11 | c.6300T>G (p.Asn2100Lys) c.*6103T>G (n.*6103T>G) c.745-5051T>G (n.745-5051T>G) c.152-5051T>G c.6198T>G (p.Asn2066Lys) c.6003T>G (p.Asn2001Lys) c.6171T>G (p.Asn2057Lys) | |
| 16 | g.89280242A>G | CA497373457 | ANKRD11 | c.6300T>C (p.Asn2100=) c.*6103T>C (n.*6103T>C) c.745-5051T>C (n.745-5051T>C) c.152-5051T>C c.6198T>C (p.Asn2066=) c.6003T>C (p.Asn2001=) c.6171T>C (p.Asn2057=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89280242A>T | CA397151424 | ANKRD11 | c.6300T>A (p.Asn2100Lys) c.*6103T>A (n.*6103T>A) c.745-5051T>A (n.745-5051T>A) c.152-5051T>A c.6198T>A (p.Asn2066Lys) c.6003T>A (p.Asn2001Lys) c.6171T>A (p.Asn2057Lys) | |
| 16 | g.89280242_89280243insCAGGAAACTACCGAGCCACCACATTTCTCC | CA2241587270 | ANKRD11 | c.6299_6300insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG (p.Asn2100delinsLysGluLysCysGlyGlySerValValSerCys) c.*6102_*6103insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG (n.*6102_*6103insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG) c.745-5052_745-5051insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG (n.745-5052_745-5051insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG) c.152-5052_152-5051insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG c.6197_6198insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG (p.Asn2066delinsLysGluLysCysGlyGlySerValValSerCys) c.6002_6003insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG (p.Asn2001delinsLysGluLysCysGlyGlySerValValSerCys) c.6170_6171insGGAGAAATGTGGTGGCTCGGTAGTTTCCTG (p.Asn2057delinsLysGluLysCysGlyGlySerValValSerCys) | dbSNP |
| 16 | g.89280243T>A | CA397151425 | ANKRD11 | c.6299A>T (p.Asn2100Ile) c.*6102A>T (n.*6102A>T) c.745-5052A>T (n.745-5052A>T) c.152-5052A>T c.6197A>T (p.Asn2066Ile) c.6002A>T (p.Asn2001Ile) c.6170A>T (p.Asn2057Ile) | gnomAD v4 |
| 16 | g.89280243T>C | CA397151426 | ANKRD11 | c.6299A>G (p.Asn2100Ser) c.*6102A>G (n.*6102A>G) c.745-5052A>G (n.745-5052A>G) c.152-5052A>G c.6197A>G (p.Asn2066Ser) c.6002A>G (p.Asn2001Ser) c.6170A>G (p.Asn2057Ser) | dbSNP gnomAD v2 |
| 16 | g.89280243T>G | CA397151427 | ANKRD11 | c.6299A>C (p.Asn2100Thr) c.*6102A>C (n.*6102A>C) c.745-5052A>C (n.745-5052A>C) c.152-5052A>C c.6197A>C (p.Asn2066Thr) c.6002A>C (p.Asn2001Thr) c.6170A>C (p.Asn2057Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89280243T= | CA2241587269 | ANKRD11 | c.6299A= (p.Asn2100=) c.*6102A= (n.*6102A=) c.745-5052A= (n.745-5052A=) c.152-5052A= c.6197A= (p.Asn2066=) c.6002A= (p.Asn2001=) c.6170A= (p.Asn2057=) | |
| 16 | g.89280245_89280246dup | CA2697556041 | ANKRD11 | c.6298_6299dup (p.Asn2100LysfsTer?) c.*6101_*6102dup (n.*6101_*6102dup) c.745-5053_745-5052dup (n.745-5053_745-5052dup) c.152-5053_152-5052dup c.6196_6197dup (p.Asn2066LysfsTer?) c.6001_6002dup (p.Asn2001LysfsTer?) c.6169_6170dup (p.Asn2057LysfsTer?) | ClinVar |
| 16 | g.89280244T>A | CA397151428 | ANKRD11 | c.6298A>T (p.Asn2100Tyr) c.*6101A>T (n.*6101A>T) c.745-5053A>T (n.745-5053A>T) c.152-5053A>T c.6196A>T (p.Asn2066Tyr) c.6001A>T (p.Asn2001Tyr) c.6169A>T (p.Asn2057Tyr) | |
| 16 | g.89280244T>C | CA397151429 | ANKRD11 | c.6298A>G (p.Asn2100Asp) c.*6101A>G (n.*6101A>G) c.745-5053A>G (n.745-5053A>G) c.152-5053A>G c.6196A>G (p.Asn2066Asp) c.6001A>G (p.Asn2001Asp) c.6169A>G (p.Asn2057Asp) |