WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89279298_89279319delinsAGCGTCTGCTGGATCACCTCCC | CA2241586622 | ANKRD11 | c.7223_7244delinsGGGAGGTGATCCAGCAGACGCT (p.Arg2408=) c.*7026_*7047delinsGGGAGGTGATCCAGCAGACGCT (n.*7026_*7047delinsGGGAGGTGATCCAGCAGACGCT) c.745-4128_745-4107delinsGGGAGGTGATCCAGCAGACGCT (n.745-4128_745-4107delinsGGGAGGTGATCCAGCAGACGCT) c.152-4128_152-4107delinsGGGAGGTGATCCAGCAGACGCT n.398_419delinsGGGAGGTGATCCAGCAGACGCT c.7121_7142delinsGGGAGGTGATCCAGCAGACGCT (p.Arg2374=) c.6926_6947delinsGGGAGGTGATCCAGCAGACGCT (p.Arg2309=) c.7094_7115delinsGGGAGGTGATCCAGCAGACGCT (p.Arg2365=) | |
| 16 | g.89279309_89279329dup | CA2241586623 | ANKRD11 | c.7223_7243dup (p.Thr2414_Leu2415insArgGluValIleGlnGlnThr) c.*7026_*7046dup (n.*7026_*7046dup) c.745-4128_745-4108dup (n.745-4128_745-4108dup) c.152-4128_152-4108dup n.398_418dup c.7121_7141dup (p.Thr2380_Leu2381insArgGluValIleGlnGlnThr) c.6926_6946dup (p.Thr2315_Leu2316insArgGluValIleGlnGlnThr) c.7094_7114dup (p.Thr2371_Leu2372insArgGluValIleGlnGlnThr) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89279309_89279329del | CA725702311 | ANKRD11 | c.7223_7243del (p.Arg2408_Thr2414del) c.*7026_*7046del (n.*7026_*7046del) c.745-4128_745-4108del (n.745-4128_745-4108del) c.152-4128_152-4108del n.398_418del c.7121_7141del (p.Arg2374_Thr2380del) c.6926_6946del (p.Arg2309_Thr2315del) c.7094_7114del (p.Arg2365_Thr2371del) | dbSNP gnomAD v4 |
| 16 | g.89279304T>A | CA397148822 | ANKRD11 | c.7238A>T (p.Gln2413Leu) c.*7041A>T (n.*7041A>T) c.745-4113A>T (n.745-4113A>T) c.152-4113A>T n.413A>T c.7136A>T (p.Gln2379Leu) c.6941A>T (p.Gln2314Leu) c.7109A>T (p.Gln2370Leu) | |
| 16 | g.89279304T>C | CA397148819 | ANKRD11 | c.7238A>G (p.Gln2413Arg) c.*7041A>G (n.*7041A>G) c.745-4113A>G (n.745-4113A>G) c.152-4113A>G n.413A>G c.7136A>G (p.Gln2379Arg) c.6941A>G (p.Gln2314Arg) c.7109A>G (p.Gln2370Arg) | |
| 16 | g.89279304T>G | CA397148818 | ANKRD11 | c.7238A>C (p.Gln2413Pro) c.*7041A>C (n.*7041A>C) c.745-4113A>C (n.745-4113A>C) c.152-4113A>C n.413A>C c.7136A>C (p.Gln2379Pro) c.6941A>C (p.Gln2314Pro) c.7109A>C (p.Gln2370Pro) | |
| 16 | g.89279305G>A | CA397148824 | ANKRD11 | c.7237C>T (p.Gln2413Ter) c.*7040C>T (n.*7040C>T) c.745-4114C>T (n.745-4114C>T) c.152-4114C>T n.412C>T c.7135C>T (p.Gln2379Ter) c.6940C>T (p.Gln2314Ter) c.7108C>T (p.Gln2370Ter) | |
| 16 | g.89279305G>C | CA397148825 | ANKRD11 | c.7237C>G (p.Gln2413Glu) c.*7040C>G (n.*7040C>G) c.745-4114C>G (n.745-4114C>G) c.152-4114C>G n.412C>G c.7135C>G (p.Gln2379Glu) c.6940C>G (p.Gln2314Glu) c.7108C>G (p.Gln2370Glu) | |
| 16 | g.89279305G>T | CA397148827 | ANKRD11 | c.7237C>A (p.Gln2413Lys) c.*7040C>A (n.*7040C>A) c.745-4114C>A (n.745-4114C>A) c.152-4114C>A n.412C>A c.7135C>A (p.Gln2379Lys) c.6940C>A (p.Gln2314Lys) c.7108C>A (p.Gln2370Lys) | |
| 16 | g.89279306C>A | CA397148829 | ANKRD11 | c.7236G>T (p.Gln2412His) c.*7039G>T (n.*7039G>T) c.745-4115G>T (n.745-4115G>T) c.152-4115G>T n.411G>T c.7134G>T (p.Gln2378His) c.6939G>T (p.Gln2313His) c.7107G>T (p.Gln2369His) | gnomAD v4 |
| 16 | g.89279306C>G | CA397148830 | ANKRD11 | c.7236G>C (p.Gln2412His) c.*7039G>C (n.*7039G>C) c.745-4115G>C (n.745-4115G>C) c.152-4115G>C n.411G>C c.7134G>C (p.Gln2378His) c.6939G>C (p.Gln2313His) c.7107G>C (p.Gln2369His) | |
| 16 | g.89279306C>T | CA497372446 | ANKRD11 | c.7236G>A (p.Gln2412=) c.*7039G>A (n.*7039G>A) c.745-4115G>A (n.745-4115G>A) c.152-4115G>A n.411G>A c.7134G>A (p.Gln2378=) c.6939G>A (p.Gln2313=) c.7107G>A (p.Gln2369=) | |
| 16 | g.89279307T>A | CA397148832 | ANKRD11 | c.7235A>T (p.Gln2412Leu) c.*7038A>T (n.*7038A>T) c.745-4116A>T (n.745-4116A>T) c.152-4116A>T n.410A>T c.7133A>T (p.Gln2378Leu) c.6938A>T (p.Gln2313Leu) c.7106A>T (p.Gln2369Leu) | |
| 16 | g.89279307T>C | CA397148834 | ANKRD11 | c.7235A>G (p.Gln2412Arg) c.*7038A>G (n.*7038A>G) c.745-4116A>G (n.745-4116A>G) c.152-4116A>G n.410A>G c.7133A>G (p.Gln2378Arg) c.6938A>G (p.Gln2313Arg) c.7106A>G (p.Gln2369Arg) | dbSNP gnomAD v4 |
| 16 | g.89279307T>G | CA397148835 | ANKRD11 | c.7235A>C (p.Gln2412Pro) c.*7038A>C (n.*7038A>C) c.745-4116A>C (n.745-4116A>C) c.152-4116A>C n.410A>C c.7133A>C (p.Gln2378Pro) c.6938A>C (p.Gln2313Pro) c.7106A>C (p.Gln2369Pro) | |
| 16 | g.89279307T= | CA2241586627 | ANKRD11 | c.7235A= (p.Gln2412=) c.*7038A= (n.*7038A=) c.745-4116A= (n.745-4116A=) c.152-4116A= n.410A= c.7133A= (p.Gln2378=) c.6938A= (p.Gln2313=) c.7106A= (p.Gln2369=) | |
| 16 | g.89279308G>A | CA10603561 | ANKRD11 | c.7234C>T (p.Gln2412Ter) c.*7037C>T (n.*7037C>T) c.745-4117C>T (n.745-4117C>T) c.152-4117C>T n.409C>T c.7132C>T (p.Gln2378Ter) c.6937C>T (p.Gln2313Ter) c.7105C>T (p.Gln2369Ter) | ClinVar dbSNP |
| 16 | g.89279308G>C | CA397148838 | ANKRD11 | c.7234C>G (p.Gln2412Glu) c.*7037C>G (n.*7037C>G) c.745-4117C>G (n.745-4117C>G) c.152-4117C>G n.409C>G c.7132C>G (p.Gln2378Glu) c.6937C>G (p.Gln2313Glu) c.7105C>G (p.Gln2369Glu) | |
| 16 | g.89279308G= | CA2241586628 | ANKRD11 | c.7234C= (p.Gln2412=) c.*7037C= (n.*7037C=) c.745-4117C= (n.745-4117C=) c.152-4117C= n.409C= c.7132C= (p.Gln2378=) c.6937C= (p.Gln2313=) c.7105C= (p.Gln2369=) | |
| 16 | g.89279308G>T | CA397148839 | ANKRD11 | c.7234C>A (p.Gln2412Lys) c.*7037C>A (n.*7037C>A) c.745-4117C>A (n.745-4117C>A) c.152-4117C>A n.409C>A c.7132C>A (p.Gln2378Lys) c.6937C>A (p.Gln2313Lys) c.7105C>A (p.Gln2369Lys) | |
| 16 | g.89279309del | CA2695223894 | ANKRD11 | c.7234del (p.Gln2412SerfsTer?) c.*7037del (n.*7037del) c.745-4117del (n.745-4117del) c.152-4117del n.409del c.7132del (p.Gln2378SerfsTer?) c.6937del (p.Gln2313SerfsTer?) c.7105del (p.Gln2369SerfsTer?) | |
| 16 | g.89279309G>A | CA8241271 | ANKRD11 | c.7233C>T (p.Ile2411=) c.*7036C>T (n.*7036C>T) c.745-4118C>T (n.745-4118C>T) c.152-4118C>T n.408C>T c.7131C>T (p.Ile2377=) c.6936C>T (p.Ile2312=) c.7104C>T (p.Ile2368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279309G>C | CA397148842 | ANKRD11 | c.7233C>G (p.Ile2411Met) c.*7036C>G (n.*7036C>G) c.745-4118C>G (n.745-4118C>G) c.152-4118C>G n.408C>G c.7131C>G (p.Ile2377Met) c.6936C>G (p.Ile2312Met) c.7104C>G (p.Ile2368Met) | gnomAD v4 |
| 16 | g.89279309G= | CA2241586629 | ANKRD11 | c.7233C= (p.Ile2411=) c.*7036C= (n.*7036C=) c.745-4118C= (n.745-4118C=) c.152-4118C= n.408C= c.7131C= (p.Ile2377=) c.6936C= (p.Ile2312=) c.7104C= (p.Ile2368=) | |
| 16 | g.89279309G>T | CA497372451 | ANKRD11 | c.7233C>A (p.Ile2411=) c.*7036C>A (n.*7036C>A) c.745-4118C>A (n.745-4118C>A) c.152-4118C>A n.408C>A c.7131C>A (p.Ile2377=) c.6936C>A (p.Ile2312=) c.7104C>A (p.Ile2368=) | |
| 16 | g.89279310A>C | CA397148848 | ANKRD11 | c.7232T>G (p.Ile2411Ser) c.*7035T>G (n.*7035T>G) c.745-4119T>G (n.745-4119T>G) c.152-4119T>G n.407T>G c.7130T>G (p.Ile2377Ser) c.6935T>G (p.Ile2312Ser) c.7103T>G (p.Ile2368Ser) | |
| 16 | g.89279310A>G | CA397148845 | ANKRD11 | c.7232T>C (p.Ile2411Thr) c.*7035T>C (n.*7035T>C) c.745-4119T>C (n.745-4119T>C) c.152-4119T>C n.407T>C c.7130T>C (p.Ile2377Thr) c.6935T>C (p.Ile2312Thr) c.7103T>C (p.Ile2368Thr) | gnomAD v4 |
| 16 | g.89279310A>T | CA397148846 | ANKRD11 | c.7232T>A (p.Ile2411Asn) c.*7035T>A (n.*7035T>A) c.745-4119T>A (n.745-4119T>A) c.152-4119T>A n.407T>A c.7130T>A (p.Ile2377Asn) c.6935T>A (p.Ile2312Asn) c.7103T>A (p.Ile2368Asn) | |
| 16 | g.89279310_89279330dup | CA8241270 | ANKRD11 | c.7212_7232dup (p.Val2410_Ile2411insMetGlnGlnThrArgGluVal) c.*7015_*7035dup (n.*7015_*7035dup) c.745-4139_745-4119dup (n.745-4139_745-4119dup) c.152-4139_152-4119dup n.387_407dup c.7110_7130dup (p.Val2376_Ile2377insMetGlnGlnThrArgGluVal) c.6915_6935dup (p.Val2311_Ile2312insMetGlnGlnThrArgGluVal) c.7083_7103dup (p.Val2367_Ile2368insMetGlnGlnThrArgGluVal) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.89279311T>A | CA397148850 | ANKRD11 | c.7231A>T (p.Ile2411Phe) c.*7034A>T (n.*7034A>T) c.745-4120A>T (n.745-4120A>T) c.152-4120A>T n.406A>T c.7129A>T (p.Ile2377Phe) c.6934A>T (p.Ile2312Phe) c.7102A>T (p.Ile2368Phe) | |
| 16 | g.89279311T>C | CA8241272 | ANKRD11 | c.7231A>G (p.Ile2411Val) c.*7034A>G (n.*7034A>G) c.745-4120A>G (n.745-4120A>G) c.152-4120A>G n.406A>G c.7129A>G (p.Ile2377Val) c.6934A>G (p.Ile2312Val) c.7102A>G (p.Ile2368Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279311T>G | CA397148851 | ANKRD11 | c.7231A>C (p.Ile2411Leu) c.*7034A>C (n.*7034A>C) c.745-4120A>C (n.745-4120A>C) c.152-4120A>C n.406A>C c.7129A>C (p.Ile2377Leu) c.6934A>C (p.Ile2312Leu) c.7102A>C (p.Ile2368Leu) | |
| 16 | g.89279311T= | CA2241586630 | ANKRD11 | c.7231A= (p.Ile2411=) c.*7034A= (n.*7034A=) c.745-4120A= (n.745-4120A=) c.152-4120A= n.406A= c.7129A= (p.Ile2377=) c.6934A= (p.Ile2312=) c.7102A= (p.Ile2368=) | |
| 16 | g.89279312C>A | CA497372454 | ANKRD11 | c.7230G>T (p.Val2410=) c.*7033G>T (n.*7033G>T) c.745-4121G>T (n.745-4121G>T) c.152-4121G>T n.405G>T c.7128G>T (p.Val2376=) c.6933G>T (p.Val2311=) c.7101G>T (p.Val2367=) | |
| 16 | g.89279312C= | CA2241586631 | ANKRD11 | c.7230G= (p.Val2410=) c.*7033G= (n.*7033G=) c.745-4121G= (n.745-4121G=) c.152-4121G= n.405G= c.7128G= (p.Val2376=) c.6933G= (p.Val2311=) c.7101G= (p.Val2367=) | |
| 16 | g.89279312C>G | CA497372455 | ANKRD11 | c.7230G>C (p.Val2410=) c.*7033G>C (n.*7033G>C) c.745-4121G>C (n.745-4121G>C) c.152-4121G>C n.405G>C c.7128G>C (p.Val2376=) c.6933G>C (p.Val2311=) c.7101G>C (p.Val2367=) | |
| 16 | g.89279312C>T | CA497372456 | ANKRD11 | c.7230G>A (p.Val2410=) c.*7033G>A (n.*7033G>A) c.745-4121G>A (n.745-4121G>A) c.152-4121G>A n.405G>A c.7128G>A (p.Val2376=) c.6933G>A (p.Val2311=) c.7101G>A (p.Val2367=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89279313A= | CA2241586632 | ANKRD11 | c.7229T= (p.Val2410=) c.*7032T= (n.*7032T=) c.745-4122T= (n.745-4122T=) c.152-4122T= n.404T= c.7127T= (p.Val2376=) c.6932T= (p.Val2311=) c.7100T= (p.Val2367=) | |
| 16 | g.89279313A>C | CA397148854 | ANKRD11 | c.7229T>G (p.Val2410Gly) c.*7032T>G (n.*7032T>G) c.745-4122T>G (n.745-4122T>G) c.152-4122T>G n.404T>G c.7127T>G (p.Val2376Gly) c.6932T>G (p.Val2311Gly) c.7100T>G (p.Val2367Gly) | dbSNP |
| 16 | g.89279313A>G | CA397148855 | ANKRD11 | c.7229T>C (p.Val2410Ala) c.*7032T>C (n.*7032T>C) c.745-4122T>C (n.745-4122T>C) c.152-4122T>C n.404T>C c.7127T>C (p.Val2376Ala) c.6932T>C (p.Val2311Ala) c.7100T>C (p.Val2367Ala) | |
| 16 | g.89279313A>T | CA397148856 | ANKRD11 | c.7229T>A (p.Val2410Glu) c.*7032T>A (n.*7032T>A) c.745-4122T>A (n.745-4122T>A) c.152-4122T>A n.404T>A c.7127T>A (p.Val2376Glu) c.6932T>A (p.Val2311Glu) c.7100T>A (p.Val2367Glu) | |
| 16 | g.89279314C>A | CA397148858 | ANKRD11 | c.7228G>T (p.Val2410Leu) c.*7031G>T (n.*7031G>T) c.745-4123G>T (n.745-4123G>T) c.152-4123G>T n.403G>T c.7126G>T (p.Val2376Leu) c.6931G>T (p.Val2311Leu) c.7099G>T (p.Val2367Leu) | |
| 16 | g.89279314C>G | CA397148860 | ANKRD11 | c.7228G>C (p.Val2410Leu) c.*7031G>C (n.*7031G>C) c.745-4123G>C (n.745-4123G>C) c.152-4123G>C n.403G>C c.7126G>C (p.Val2376Leu) c.6931G>C (p.Val2311Leu) c.7099G>C (p.Val2367Leu) | |
| 16 | g.89279314C>T | CA397148862 | ANKRD11 | c.7228G>A (p.Val2410Met) c.*7031G>A (n.*7031G>A) c.745-4123G>A (n.745-4123G>A) c.152-4123G>A n.403G>A c.7126G>A (p.Val2376Met) c.6931G>A (p.Val2311Met) c.7099G>A (p.Val2367Met) | ClinVar |
| 16 | g.89279315C>A | CA397148864 | ANKRD11 | c.7227G>T (p.Glu2409Asp) c.*7030G>T (n.*7030G>T) c.745-4124G>T (n.745-4124G>T) c.152-4124G>T n.402G>T c.7125G>T (p.Glu2375Asp) c.6930G>T (p.Glu2310Asp) c.7098G>T (p.Glu2366Asp) | |
| 16 | g.89279315C= | CA2241586633 | ANKRD11 | c.7227G= (p.Glu2409=) c.*7030G= (n.*7030G=) c.745-4124G= (n.745-4124G=) c.152-4124G= n.402G= c.7125G= (p.Glu2375=) c.6930G= (p.Glu2310=) c.7098G= (p.Glu2366=) | |
| 16 | g.89279315C>G | CA397148866 | ANKRD11 | c.7227G>C (p.Glu2409Asp) c.*7030G>C (n.*7030G>C) c.745-4124G>C (n.745-4124G>C) c.152-4124G>C n.402G>C c.7125G>C (p.Glu2375Asp) c.6930G>C (p.Glu2310Asp) c.7098G>C (p.Glu2366Asp) | |
| 16 | g.89279315C>T | CA8241273 | ANKRD11 | c.7227G>A (p.Glu2409=) c.*7030G>A (n.*7030G>A) c.745-4124G>A (n.745-4124G>A) c.152-4124G>A n.402G>A c.7125G>A (p.Glu2375=) c.6930G>A (p.Glu2310=) c.7098G>A (p.Glu2366=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89279316T>A | CA397148870 | ANKRD11 | c.7226A>T (p.Glu2409Val) c.*7029A>T (n.*7029A>T) c.745-4125A>T (n.745-4125A>T) c.152-4125A>T n.401A>T c.7124A>T (p.Glu2375Val) c.6929A>T (p.Glu2310Val) c.7097A>T (p.Glu2366Val) | |
| 16 | g.89279316T>C | CA397148872 | ANKRD11 | c.7226A>G (p.Glu2409Gly) c.*7029A>G (n.*7029A>G) c.745-4125A>G (n.745-4125A>G) c.152-4125A>G n.401A>G c.7124A>G (p.Glu2375Gly) c.6929A>G (p.Glu2310Gly) c.7097A>G (p.Glu2366Gly) |