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.89270818_89270835delinsTTCATGCGGTCATACTTG | CA2241596174 | ANKRD11 | c.7788_7805delinsCAAGTATGACCGCATGAA (p.Asp2596=) c.*7591_*7608delinsCAAGTATGACCGCATGAA (n.*7591_*7608delinsCAAGTATGACCGCATGAA) c.1062_1079delinsCAAGTATGACCGCATGAA (p.Asp354=) c.469_486delinsCAAGTATGACCGCATGAA c.7686_7703delinsCAAGTATGACCGCATGAA (p.Asp2562=) c.7491_7508delinsCAAGTATGACCGCATGAA (p.Asp2497=) c.7659_7676delinsCAAGTATGACCGCATGAA (p.Asp2553=) | |
| 16 | g.89270823_89270839del | CA16620301 | ANKRD11 | c.7788_7804del (p.Asp2596GlufsTer?) c.*7591_*7607del (n.*7591_*7607del) c.1062_1078del (p.Asp354GlufsTer?) c.469_485del c.7686_7702del (p.Asp2562GlufsTer?) c.7491_7507del (p.Asp2497GlufsTer?) c.7659_7675del (p.Asp2553GlufsTer?) c.7788_7804del (p.Asp2596GlufsTer25) | ClinVar dbSNP |
| 16 | g.89270830T>A | CA397146366 | ANKRD11 | c.7793A>T (p.Tyr2598Phe) c.*7596A>T (n.*7596A>T) c.1067A>T (p.Tyr356Phe) c.474A>T c.7691A>T (p.Tyr2564Phe) c.7496A>T (p.Tyr2499Phe) c.7664A>T (p.Tyr2555Phe) | |
| 16 | g.89270830T>C | CA397146370 | ANKRD11 | c.7793A>G (p.Tyr2598Cys) c.*7596A>G (n.*7596A>G) c.1067A>G (p.Tyr356Cys) c.474A>G c.7691A>G (p.Tyr2564Cys) c.7496A>G (p.Tyr2499Cys) c.7664A>G (p.Tyr2555Cys) | |
| 16 | g.89270830T>G | CA397146368 | ANKRD11 | c.7793A>C (p.Tyr2598Ser) c.*7596A>C (n.*7596A>C) c.1067A>C (p.Tyr356Ser) c.474A>C c.7691A>C (p.Tyr2564Ser) c.7496A>C (p.Tyr2499Ser) c.7664A>C (p.Tyr2555Ser) | |
| 16 | g.89270831A>C | CA397146373 | ANKRD11 | c.7792T>G (p.Tyr2598Asp) c.*7595T>G (n.*7595T>G) c.1066T>G (p.Tyr356Asp) c.473T>G c.7690T>G (p.Tyr2564Asp) c.7495T>G (p.Tyr2499Asp) c.7663T>G (p.Tyr2555Asp) | |
| 16 | g.89270831A>G | CA397146375 | ANKRD11 | c.7792T>C (p.Tyr2598His) c.*7595T>C (n.*7595T>C) c.1066T>C (p.Tyr356His) c.473T>C c.7690T>C (p.Tyr2564His) c.7495T>C (p.Tyr2499His) c.7663T>C (p.Tyr2555His) | |
| 16 | g.89270831A>T | CA397146374 | ANKRD11 | c.7792T>A (p.Tyr2598Asn) c.*7595T>A (n.*7595T>A) c.1066T>A (p.Tyr356Asn) c.473T>A c.7690T>A (p.Tyr2564Asn) c.7495T>A (p.Tyr2499Asn) c.7663T>A (p.Tyr2555Asn) | |
| 16 | g.89270832C>A | CA397146378 | ANKRD11 | c.7791G>T (p.Lys2597Asn) c.*7594G>T (n.*7594G>T) c.1065G>T (p.Lys355Asn) c.472G>T c.7689G>T (p.Lys2563Asn) c.7494G>T (p.Lys2498Asn) c.7662G>T (p.Lys2554Asn) | |
| 16 | g.89270832C>G | CA397146380 | ANKRD11 | c.7791G>C (p.Lys2597Asn) c.*7594G>C (n.*7594G>C) c.1065G>C (p.Lys355Asn) c.472G>C c.7689G>C (p.Lys2563Asn) c.7494G>C (p.Lys2498Asn) c.7662G>C (p.Lys2554Asn) | |
| 16 | g.89270832C>T | CA497166194 | ANKRD11 | c.7791G>A (p.Lys2597=) c.*7594G>A (n.*7594G>A) c.1065G>A (p.Lys355=) c.472G>A c.7689G>A (p.Lys2563=) c.7494G>A (p.Lys2498=) c.7662G>A (p.Lys2554=) | |
| 16 | g.89270833T>A | CA397146383 | ANKRD11 | c.7790A>T (p.Lys2597Met) c.*7593A>T (n.*7593A>T) c.1064A>T (p.Lys355Met) c.471A>T c.7688A>T (p.Lys2563Met) c.7493A>T (p.Lys2498Met) c.7661A>T (p.Lys2554Met) | |
| 16 | g.89270833T>C | CA397146384 | ANKRD11 | c.7790A>G (p.Lys2597Arg) c.*7593A>G (n.*7593A>G) c.1064A>G (p.Lys355Arg) c.471A>G c.7688A>G (p.Lys2563Arg) c.7493A>G (p.Lys2498Arg) c.7661A>G (p.Lys2554Arg) | |
| 16 | g.89270833T>G | CA397146386 | ANKRD11 | c.7790A>C (p.Lys2597Thr) c.*7593A>C (n.*7593A>C) c.1064A>C (p.Lys355Thr) c.471A>C c.7688A>C (p.Lys2563Thr) c.7493A>C (p.Lys2498Thr) c.7661A>C (p.Lys2554Thr) | |
| 16 | g.89270834T>A | CA397146388 | ANKRD11 | c.7789A>T (p.Lys2597Ter) c.*7592A>T (n.*7592A>T) c.1063A>T (p.Lys355Ter) c.470A>T c.7687A>T (p.Lys2563Ter) c.7492A>T (p.Lys2498Ter) c.7660A>T (p.Lys2554Ter) | ClinVar dbSNP |
| 16 | g.89270834T>C | CA397146390 | ANKRD11 | c.7789A>G (p.Lys2597Glu) c.*7592A>G (n.*7592A>G) c.1063A>G (p.Lys355Glu) c.470A>G c.7687A>G (p.Lys2563Glu) c.7492A>G (p.Lys2498Glu) c.7660A>G (p.Lys2554Glu) | |
| 16 | g.89270834T>G | CA397146393 | ANKRD11 | c.7789A>C (p.Lys2597Gln) c.*7592A>C (n.*7592A>C) c.1063A>C (p.Lys355Gln) c.470A>C c.7687A>C (p.Lys2563Gln) c.7492A>C (p.Lys2498Gln) c.7660A>C (p.Lys2554Gln) | |
| 16 | g.89270834T= | CA2241596180 | ANKRD11 | c.7789A= (p.Lys2597=) c.*7592A= (n.*7592A=) c.1063A= (p.Lys355=) c.470A= c.7687A= (p.Lys2563=) c.7492A= (p.Lys2498=) c.7660A= (p.Lys2554=) | |
| 16 | g.89270835G>A | CA497166199 | ANKRD11 | c.7788C>T (p.Asp2596=) c.*7591C>T (n.*7591C>T) c.1062C>T (p.Asp354=) c.469C>T c.7686C>T (p.Asp2562=) c.7491C>T (p.Asp2497=) c.7659C>T (p.Asp2553=) | gnomAD v4 |
| 16 | g.89270835G>C | CA397146394 | ANKRD11 | c.7788C>G (p.Asp2596Glu) c.*7591C>G (n.*7591C>G) c.1062C>G (p.Asp354Glu) c.469C>G c.7686C>G (p.Asp2562Glu) c.7491C>G (p.Asp2497Glu) c.7659C>G (p.Asp2553Glu) | |
| 16 | g.89270835G>T | CA397146395 | ANKRD11 | c.7788C>A (p.Asp2596Glu) c.*7591C>A (n.*7591C>A) c.1062C>A (p.Asp354Glu) c.469C>A c.7686C>A (p.Asp2562Glu) c.7491C>A (p.Asp2497Glu) c.7659C>A (p.Asp2553Glu) | |
| 16 | g.89270836T>A | CA397146398 | ANKRD11 | c.7787A>T (p.Asp2596Val) c.*7590A>T (n.*7590A>T) c.1061A>T (p.Asp354Val) c.468A>T c.7685A>T (p.Asp2562Val) c.7490A>T (p.Asp2497Val) c.7658A>T (p.Asp2553Val) | |
| 16 | g.89270836T>C | CA397146400 | ANKRD11 | c.7787A>G (p.Asp2596Gly) c.*7590A>G (n.*7590A>G) c.1061A>G (p.Asp354Gly) c.468A>G c.7685A>G (p.Asp2562Gly) c.7490A>G (p.Asp2497Gly) c.7658A>G (p.Asp2553Gly) | |
| 16 | g.89270836T>G | CA397146402 | ANKRD11 | c.7787A>C (p.Asp2596Ala) c.*7590A>C (n.*7590A>C) c.1061A>C (p.Asp354Ala) c.468A>C c.7685A>C (p.Asp2562Ala) c.7490A>C (p.Asp2497Ala) c.7658A>C (p.Asp2553Ala) | |
| 16 | g.89270837C>A | CA397146408 | ANKRD11 | c.7786G>T (p.Asp2596Tyr) c.*7589G>T (n.*7589G>T) c.1060G>T (p.Asp354Tyr) c.467G>T c.7684G>T (p.Asp2562Tyr) c.7489G>T (p.Asp2497Tyr) c.7657G>T (p.Asp2553Tyr) | COSMIC |
| 16 | g.89270837C= | CA2241596181 | ANKRD11 | c.7786G= (p.Asp2596=) c.*7589G= (n.*7589G=) c.1060G= (p.Asp354=) c.467G= c.7684G= (p.Asp2562=) c.7489G= (p.Asp2497=) c.7657G= (p.Asp2553=) | |
| 16 | g.89270837C>G | CA397146406 | ANKRD11 | c.7786G>C (p.Asp2596His) c.*7589G>C (n.*7589G>C) c.1060G>C (p.Asp354His) c.467G>C c.7684G>C (p.Asp2562His) c.7489G>C (p.Asp2497His) c.7657G>C (p.Asp2553His) | |
| 16 | g.89270837C>T | CA397146404 | ANKRD11 | c.7786G>A (p.Asp2596Asn) c.*7589G>A (n.*7589G>A) c.1060G>A (p.Asp354Asn) c.467G>A c.7684G>A (p.Asp2562Asn) c.7489G>A (p.Asp2497Asn) c.7657G>A (p.Asp2553Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89270838A>C | CA397146409 | ANKRD11 | c.7785T>G (p.Asp2595Glu) c.*7588T>G (n.*7588T>G) c.1059T>G (p.Asp353Glu) c.466T>G c.7683T>G (p.Asp2561Glu) c.7488T>G (p.Asp2496Glu) c.7656T>G (p.Asp2552Glu) | |
| 16 | g.89270838A>G | CA497166209 | ANKRD11 | c.7785T>C (p.Asp2595=) c.*7588T>C (n.*7588T>C) c.1059T>C (p.Asp353=) c.466T>C c.7683T>C (p.Asp2561=) c.7488T>C (p.Asp2496=) c.7656T>C (p.Asp2552=) | |
| 16 | g.89270838A>T | CA397146411 | ANKRD11 | c.7785T>A (p.Asp2595Glu) c.*7588T>A (n.*7588T>A) c.1059T>A (p.Asp353Glu) c.466T>A c.7683T>A (p.Asp2561Glu) c.7488T>A (p.Asp2496Glu) c.7656T>A (p.Asp2552Glu) | |
| 16 | g.89270839T>A | CA397146412 | ANKRD11 | c.7784A>T (p.Asp2595Val) c.*7587A>T (n.*7587A>T) c.1058A>T (p.Asp353Val) c.465A>T c.7682A>T (p.Asp2561Val) c.7487A>T (p.Asp2496Val) c.7655A>T (p.Asp2552Val) | |
| 16 | g.89270839T>C | CA397146415 | ANKRD11 | c.7784A>G (p.Asp2595Gly) c.*7587A>G (n.*7587A>G) c.1058A>G (p.Asp353Gly) c.465A>G c.7682A>G (p.Asp2561Gly) c.7487A>G (p.Asp2496Gly) c.7655A>G (p.Asp2552Gly) | |
| 16 | g.89270839T>G | CA397146417 | ANKRD11 | c.7784A>C (p.Asp2595Ala) c.*7587A>C (n.*7587A>C) c.1058A>C (p.Asp353Ala) c.465A>C c.7682A>C (p.Asp2561Ala) c.7487A>C (p.Asp2496Ala) c.7655A>C (p.Asp2552Ala) | |
| 16 | g.89270840C>A | CA397146419 | ANKRD11 | c.7783G>T (p.Asp2595Tyr) c.*7586G>T (n.*7586G>T) c.1057G>T (p.Asp353Tyr) c.464G>T c.7681G>T (p.Asp2561Tyr) c.7486G>T (p.Asp2496Tyr) c.7654G>T (p.Asp2552Tyr) | |
| 16 | g.89270840C>G | CA397146421 | ANKRD11 | c.7783G>C (p.Asp2595His) c.*7586G>C (n.*7586G>C) c.1057G>C (p.Asp353His) c.464G>C c.7681G>C (p.Asp2561His) c.7486G>C (p.Asp2496His) c.7654G>C (p.Asp2552His) | |
| 16 | g.89270840C>T | CA397146422 | ANKRD11 | c.7783G>A (p.Asp2595Asn) c.*7586G>A (n.*7586G>A) c.1057G>A (p.Asp353Asn) c.464G>A c.7681G>A (p.Asp2561Asn) c.7486G>A (p.Asp2496Asn) c.7654G>A (p.Asp2552Asn) | |
| 16 | g.89270841C>A | CA497166222 | ANKRD11 | c.7782G>T (p.Val2594=) c.*7585G>T (n.*7585G>T) c.1056G>T (p.Val352=) c.463G>T c.7680G>T (p.Val2560=) c.7485G>T (p.Val2495=) c.7653G>T (p.Val2551=) | |
| 16 | g.89270841C>G | CA497166220 | ANKRD11 | c.7782G>C (p.Val2594=) c.*7585G>C (n.*7585G>C) c.1056G>C (p.Val352=) c.463G>C c.7680G>C (p.Val2560=) c.7485G>C (p.Val2495=) c.7653G>C (p.Val2551=) | |
| 16 | g.89270841C>T | CA497166218 | ANKRD11 | c.7782G>A (p.Val2594=) c.*7585G>A (n.*7585G>A) c.1056G>A (p.Val352=) c.463G>A c.7680G>A (p.Val2560=) c.7485G>A (p.Val2495=) c.7653G>A (p.Val2551=) | |
| 16 | g.89270842A>C | CA397146423 | ANKRD11 | c.7781T>G (p.Val2594Gly) c.*7584T>G (n.*7584T>G) c.1055T>G (p.Val352Gly) c.462T>G c.7679T>G (p.Val2560Gly) c.7484T>G (p.Val2495Gly) c.7652T>G (p.Val2551Gly) | |
| 16 | g.89270842A>G | CA397146425 | ANKRD11 | c.7781T>C (p.Val2594Ala) c.*7584T>C (n.*7584T>C) c.1055T>C (p.Val352Ala) c.462T>C c.7679T>C (p.Val2560Ala) c.7484T>C (p.Val2495Ala) c.7652T>C (p.Val2551Ala) | |
| 16 | g.89270842A>T | CA397146427 | ANKRD11 | c.7781T>A (p.Val2594Glu) c.*7584T>A (n.*7584T>A) c.1055T>A (p.Val352Glu) c.462T>A c.7679T>A (p.Val2560Glu) c.7484T>A (p.Val2495Glu) c.7652T>A (p.Val2551Glu) | |
| 16 | g.89270843C>A | CA397146433 | ANKRD11 | c.7780G>T (p.Val2594Leu) c.*7583G>T (n.*7583G>T) c.1054G>T (p.Val352Leu) c.461G>T c.7678G>T (p.Val2560Leu) c.7483G>T (p.Val2495Leu) c.7651G>T (p.Val2551Leu) | gnomAD v4 |
| 16 | g.89270843C= | CA2241596182 | ANKRD11 | c.7780G= (p.Val2594=) c.*7583G= (n.*7583G=) c.1054G= (p.Val352=) c.461G= c.7678G= (p.Val2560=) c.7483G= (p.Val2495=) c.7651G= (p.Val2551=) | |
| 16 | g.89270843C>G | CA397146431 | ANKRD11 | c.7780G>C (p.Val2594Leu) c.*7583G>C (n.*7583G>C) c.1054G>C (p.Val352Leu) c.461G>C c.7678G>C (p.Val2560Leu) c.7483G>C (p.Val2495Leu) c.7651G>C (p.Val2551Leu) | |
| 16 | g.89270843C>T | CA397146430 | ANKRD11 | c.7780G>A (p.Val2594Met) c.*7583G>A (n.*7583G>A) c.1054G>A (p.Val352Met) c.461G>A c.7678G>A (p.Val2560Met) c.7483G>A (p.Val2495Met) c.7651G>A (p.Val2551Met) | ClinVar dbSNP COSMIC |
| 16 | g.89270844G>A | CA8241015 | ANKRD11 | c.7779C>T (p.Asp2593=) c.*7582C>T (n.*7582C>T) c.1053C>T (p.Asp351=) c.460C>T c.7677C>T (p.Asp2559=) c.7482C>T (p.Asp2494=) c.7650C>T (p.Asp2550=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89270844G>C | CA397146436 | ANKRD11 | c.7779C>G (p.Asp2593Glu) c.*7582C>G (n.*7582C>G) c.1053C>G (p.Asp351Glu) c.460C>G c.7677C>G (p.Asp2559Glu) c.7482C>G (p.Asp2494Glu) c.7650C>G (p.Asp2550Glu) | |
| 16 | g.89270844G= | CA2241596183 | ANKRD11 | c.7779C= (p.Asp2593=) c.*7582C= (n.*7582C=) c.1053C= (p.Asp351=) c.460C= c.7677C= (p.Asp2559=) c.7482C= (p.Asp2494=) c.7650C= (p.Asp2550=) |