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.89283686del | CA16620309 | ANKRD11 | c.2857del (p.Asp953ThrfsTer24) c.*2660del (n.*2660del) c.2482del (p.Asp828ThrfsTer24) c.744+4843del (n.744+4843del) c.151+4843del c.2755del (p.Asp919ThrfsTer24) c.2560del (p.Asp854ThrfsTer24) c.2728del (p.Asp910ThrfsTer24) | ClinVar dbSNP |
| 16 | g.89283686C>A | CA397161138 | ANKRD11 | c.2856G>T (p.Lys952Asn) c.*2659G>T (n.*2659G>T) c.2481G>T (p.Lys827Asn) c.744+4842G>T (n.744+4842G>T) c.151+4842G>T c.2754G>T (p.Lys918Asn) c.2559G>T (p.Lys853Asn) c.2727G>T (p.Lys909Asn) | |
| 16 | g.89283686C>G | CA397161139 | ANKRD11 | c.2856G>C (p.Lys952Asn) c.*2659G>C (n.*2659G>C) c.2481G>C (p.Lys827Asn) c.744+4842G>C (n.744+4842G>C) c.151+4842G>C c.2754G>C (p.Lys918Asn) c.2559G>C (p.Lys853Asn) c.2727G>C (p.Lys909Asn) | |
| 16 | g.89283686C>T | CA497374941 | ANKRD11 | c.2856G>A (p.Lys952=) c.*2659G>A (n.*2659G>A) c.2481G>A (p.Lys827=) c.744+4842G>A (n.744+4842G>A) c.151+4842G>A c.2754G>A (p.Lys918=) c.2559G>A (p.Lys853=) c.2727G>A (p.Lys909=) | |
| 16 | g.89283688_89283691del | CA2573152763 | ANKRD11 | c.2853_2856del (p.Lys952ThrfsTer24) c.*2656_*2659del (n.*2656_*2659del) c.2478_2481del (p.Lys827ThrfsTer24) c.744+4839_744+4842del (n.744+4839_744+4842del) c.151+4839_151+4842del c.2751_2754del (p.Lys918ThrfsTer24) c.2556_2559del (p.Lys853ThrfsTer24) c.2724_2727del (p.Lys909ThrfsTer24) | ClinVar dbSNP |
| 16 | g.89283687T>A | CA397161140 | ANKRD11 | c.2855A>T (p.Lys952Met) c.*2658A>T (n.*2658A>T) c.2480A>T (p.Lys827Met) c.744+4841A>T (n.744+4841A>T) c.151+4841A>T c.2753A>T (p.Lys918Met) c.2558A>T (p.Lys853Met) c.2726A>T (p.Lys909Met) | |
| 16 | g.89283687T>C | CA397161141 | ANKRD11 | c.2855A>G (p.Lys952Arg) c.*2658A>G (n.*2658A>G) c.2480A>G (p.Lys827Arg) c.744+4841A>G (n.744+4841A>G) c.151+4841A>G c.2753A>G (p.Lys918Arg) c.2558A>G (p.Lys853Arg) c.2726A>G (p.Lys909Arg) | |
| 16 | g.89283687T>G | CA397161142 | ANKRD11 | c.2855A>C (p.Lys952Thr) c.*2658A>C (n.*2658A>C) c.2480A>C (p.Lys827Thr) c.744+4841A>C (n.744+4841A>C) c.151+4841A>C c.2753A>C (p.Lys918Thr) c.2558A>C (p.Lys853Thr) c.2726A>C (p.Lys909Thr) | |
| 16 | g.89283688T>A | CA397161143 | ANKRD11 | c.2854A>T (p.Lys952Ter) c.*2657A>T (n.*2657A>T) c.2479A>T (p.Lys827Ter) c.744+4840A>T (n.744+4840A>T) c.151+4840A>T c.2752A>T (p.Lys918Ter) c.2557A>T (p.Lys853Ter) c.2725A>T (p.Lys909Ter) | |
| 16 | g.89283688T>C | CA397161144 | ANKRD11 | c.2854A>G (p.Lys952Glu) c.*2657A>G (n.*2657A>G) c.2479A>G (p.Lys827Glu) c.744+4840A>G (n.744+4840A>G) c.151+4840A>G c.2752A>G (p.Lys918Glu) c.2557A>G (p.Lys853Glu) c.2725A>G (p.Lys909Glu) | |
| 16 | g.89283688T>G | CA397161145 | ANKRD11 | c.2854A>C (p.Lys952Gln) c.*2657A>C (n.*2657A>C) c.2479A>C (p.Lys827Gln) c.744+4840A>C (n.744+4840A>C) c.151+4840A>C c.2752A>C (p.Lys918Gln) c.2557A>C (p.Lys853Gln) c.2725A>C (p.Lys909Gln) | |
| 16 | g.89283689T>A | CA397161147 | ANKRD11 | c.2853A>T (p.Arg951Ser) c.*2656A>T (n.*2656A>T) c.2478A>T (p.Arg826Ser) c.744+4839A>T (n.744+4839A>T) c.151+4839A>T c.2751A>T (p.Arg917Ser) c.2556A>T (p.Arg852Ser) c.2724A>T (p.Arg908Ser) | |
| 16 | g.89283689T>C | CA497374942 | ANKRD11 | c.2853A>G (p.Arg951=) c.*2656A>G (n.*2656A>G) c.2478A>G (p.Arg826=) c.744+4839A>G (n.744+4839A>G) c.151+4839A>G c.2751A>G (p.Arg917=) c.2556A>G (p.Arg852=) c.2724A>G (p.Arg908=) | |
| 16 | g.89283689T>G | CA397161146 | ANKRD11 | c.2853A>C (p.Arg951Ser) c.*2656A>C (n.*2656A>C) c.2478A>C (p.Arg826Ser) c.744+4839A>C (n.744+4839A>C) c.151+4839A>C c.2751A>C (p.Arg917Ser) c.2556A>C (p.Arg852Ser) c.2724A>C (p.Arg908Ser) | |
| 16 | g.89283690C>A | CA397161148 | ANKRD11 | c.2852G>T (p.Arg951Ile) c.*2655G>T (n.*2655G>T) c.2477G>T (p.Arg826Ile) c.744+4838G>T (n.744+4838G>T) c.151+4838G>T c.2750G>T (p.Arg917Ile) c.2555G>T (p.Arg852Ile) c.2723G>T (p.Arg908Ile) | |
| 16 | g.89283690C>G | CA397161149 | ANKRD11 | c.2852G>C (p.Arg951Thr) c.*2655G>C (n.*2655G>C) c.2477G>C (p.Arg826Thr) c.744+4838G>C (n.744+4838G>C) c.151+4838G>C c.2750G>C (p.Arg917Thr) c.2555G>C (p.Arg852Thr) c.2723G>C (p.Arg908Thr) | |
| 16 | g.89283690C>T | CA397161150 | ANKRD11 | c.2852G>A (p.Arg951Lys) c.*2655G>A (n.*2655G>A) c.2477G>A (p.Arg826Lys) c.744+4838G>A (n.744+4838G>A) c.151+4838G>A c.2750G>A (p.Arg917Lys) c.2555G>A (p.Arg852Lys) c.2723G>A (p.Arg908Lys) | |
| 16 | g.89283691T>A | CA397161151 | ANKRD11 | c.2851A>T (p.Arg951Ter) c.*2654A>T (n.*2654A>T) c.2476A>T (p.Arg826Ter) c.744+4837A>T (n.744+4837A>T) c.151+4837A>T c.2749A>T (p.Arg917Ter) c.2554A>T (p.Arg852Ter) c.2722A>T (p.Arg908Ter) | |
| 16 | g.89283691T>C | CA397161152 | ANKRD11 | c.2851A>G (p.Arg951Gly) c.*2654A>G (n.*2654A>G) c.2476A>G (p.Arg826Gly) c.744+4837A>G (n.744+4837A>G) c.151+4837A>G c.2749A>G (p.Arg917Gly) c.2554A>G (p.Arg852Gly) c.2722A>G (p.Arg908Gly) | dbSNP |
| 16 | g.89283691T>G | CA497374946 | ANKRD11 | c.2851A>C (p.Arg951=) c.*2654A>C (n.*2654A>C) c.2476A>C (p.Arg826=) c.744+4837A>C (n.744+4837A>C) c.151+4837A>C c.2749A>C (p.Arg917=) c.2554A>C (p.Arg852=) c.2722A>C (p.Arg908=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89283691T= | CA2241601877 | ANKRD11 | c.2851A= (p.Arg951=) c.*2654A= (n.*2654A=) c.2476A= (p.Arg826=) c.744+4837A= (n.744+4837A=) c.151+4837A= c.2749A= (p.Arg917=) c.2554A= (p.Arg852=) c.2722A= (p.Arg908=) | |
| 16 | g.89283692G>A | CA497374947 | ANKRD11 | c.2850C>T (p.Asp950=) c.*2653C>T (n.*2653C>T) c.2475C>T (p.Asp825=) c.744+4836C>T (n.744+4836C>T) c.151+4836C>T c.2748C>T (p.Asp916=) c.2553C>T (p.Asp851=) c.2721C>T (p.Asp907=) | |
| 16 | g.89283692G>C | CA397161153 | ANKRD11 | c.2850C>G (p.Asp950Glu) c.*2653C>G (n.*2653C>G) c.2475C>G (p.Asp825Glu) c.744+4836C>G (n.744+4836C>G) c.151+4836C>G c.2748C>G (p.Asp916Glu) c.2553C>G (p.Asp851Glu) c.2721C>G (p.Asp907Glu) | |
| 16 | g.89283692G>T | CA397161154 | ANKRD11 | c.2850C>A (p.Asp950Glu) c.*2653C>A (n.*2653C>A) c.2475C>A (p.Asp825Glu) c.744+4836C>A (n.744+4836C>A) c.151+4836C>A c.2748C>A (p.Asp916Glu) c.2553C>A (p.Asp851Glu) c.2721C>A (p.Asp907Glu) | |
| 16 | g.89283693T>A | CA397161155 | ANKRD11 | c.2849A>T (p.Asp950Val) c.*2652A>T (n.*2652A>T) c.2474A>T (p.Asp825Val) c.744+4835A>T (n.744+4835A>T) c.151+4835A>T c.2747A>T (p.Asp916Val) c.2552A>T (p.Asp851Val) c.2720A>T (p.Asp907Val) | |
| 16 | g.89283693T>C | CA397161156 | ANKRD11 | c.2849A>G (p.Asp950Gly) c.*2652A>G (n.*2652A>G) c.2474A>G (p.Asp825Gly) c.744+4835A>G (n.744+4835A>G) c.151+4835A>G c.2747A>G (p.Asp916Gly) c.2552A>G (p.Asp851Gly) c.2720A>G (p.Asp907Gly) | dbSNP gnomAD v2 |
| 16 | g.89283693T>G | CA397161157 | ANKRD11 | c.2849A>C (p.Asp950Ala) c.*2652A>C (n.*2652A>C) c.2474A>C (p.Asp825Ala) c.744+4835A>C (n.744+4835A>C) c.151+4835A>C c.2747A>C (p.Asp916Ala) c.2552A>C (p.Asp851Ala) c.2720A>C (p.Asp907Ala) | |
| 16 | g.89283693T= | CA2241601878 | ANKRD11 | c.2849A= (p.Asp950=) c.*2652A= (n.*2652A=) c.2474A= (p.Asp825=) c.744+4835A= (n.744+4835A=) c.151+4835A= c.2747A= (p.Asp916=) c.2552A= (p.Asp851=) c.2720A= (p.Asp907=) | |
| 16 | g.89283694C>A | CA397161158 | ANKRD11 | c.2848G>T (p.Asp950Tyr) c.*2651G>T (n.*2651G>T) c.2473G>T (p.Asp825Tyr) c.744+4834G>T (n.744+4834G>T) c.151+4834G>T c.2746G>T (p.Asp916Tyr) c.2551G>T (p.Asp851Tyr) c.2719G>T (p.Asp907Tyr) | |
| 16 | g.89283694C= | CA2241601880 | ANKRD11 | c.2848G= (p.Asp950=) c.*2651G= (n.*2651G=) c.2473G= (p.Asp825=) c.744+4834G= (n.744+4834G=) c.151+4834G= c.2746G= (p.Asp916=) c.2551G= (p.Asp851=) c.2719G= (p.Asp907=) | |
| 16 | g.89283694C>G | CA397161159 | ANKRD11 | c.2848G>C (p.Asp950His) c.*2651G>C (n.*2651G>C) c.2473G>C (p.Asp825His) c.744+4834G>C (n.744+4834G>C) c.151+4834G>C c.2746G>C (p.Asp916His) c.2551G>C (p.Asp851His) c.2719G>C (p.Asp907His) | |
| 16 | g.89283694C>T | CA397161160 | ANKRD11 | c.2848G>A (p.Asp950Asn) c.*2651G>A (n.*2651G>A) c.2473G>A (p.Asp825Asn) c.744+4834G>A (n.744+4834G>A) c.151+4834G>A c.2746G>A (p.Asp916Asn) c.2551G>A (p.Asp851Asn) c.2719G>A (p.Asp907Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89283695C>A | CA497374949 | ANKRD11 | c.2847G>T (p.Arg949=) c.*2650G>T (n.*2650G>T) c.2472G>T (p.Arg824=) c.744+4833G>T (n.744+4833G>T) c.151+4833G>T c.2745G>T (p.Arg915=) c.2550G>T (p.Arg850=) c.2718G>T (p.Arg906=) | |
| 16 | g.89283695C>G | CA497374950 | ANKRD11 | c.2847G>C (p.Arg949=) c.*2650G>C (n.*2650G>C) c.2472G>C (p.Arg824=) c.744+4833G>C (n.744+4833G>C) c.151+4833G>C c.2745G>C (p.Arg915=) c.2550G>C (p.Arg850=) c.2718G>C (p.Arg906=) | |
| 16 | g.89283695C>T | CA497374951 | ANKRD11 | c.2847G>A (p.Arg949=) c.*2650G>A (n.*2650G>A) c.2472G>A (p.Arg824=) c.744+4833G>A (n.744+4833G>A) c.151+4833G>A c.2745G>A (p.Arg915=) c.2550G>A (p.Arg850=) c.2718G>A (p.Arg906=) | |
| 16 | g.89283696C>A | CA397161161 | ANKRD11 | c.2846G>T (p.Arg949Leu) c.*2649G>T (n.*2649G>T) c.2471G>T (p.Arg824Leu) c.744+4832G>T (n.744+4832G>T) c.151+4832G>T c.2744G>T (p.Arg915Leu) c.2549G>T (p.Arg850Leu) c.2717G>T (p.Arg906Leu) | dbSNP gnomAD v4 |
| 16 | g.89283696C= | CA2241601881 | ANKRD11 | c.2846G= (p.Arg949=) c.*2649G= (n.*2649G=) c.2471G= (p.Arg824=) c.744+4832G= (n.744+4832G=) c.151+4832G= c.2744G= (p.Arg915=) c.2549G= (p.Arg850=) c.2717G= (p.Arg906=) | |
| 16 | g.89283696C>G | CA397161162 | ANKRD11 | c.2846G>C (p.Arg949Pro) c.*2649G>C (n.*2649G>C) c.2471G>C (p.Arg824Pro) c.744+4832G>C (n.744+4832G>C) c.151+4832G>C c.2744G>C (p.Arg915Pro) c.2549G>C (p.Arg850Pro) c.2717G>C (p.Arg906Pro) | |
| 16 | g.89283696C>T | CA8242498 | ANKRD11 | c.2846G>A (p.Arg949Gln) c.*2649G>A (n.*2649G>A) c.2471G>A (p.Arg824Gln) c.744+4832G>A (n.744+4832G>A) c.151+4832G>A c.2744G>A (p.Arg915Gln) c.2549G>A (p.Arg850Gln) c.2717G>A (p.Arg906Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89283697G>A | CA8242499 | ANKRD11 | c.2845C>T (p.Arg949Trp) c.*2648C>T (n.*2648C>T) c.2470C>T (p.Arg824Trp) c.744+4831C>T (n.744+4831C>T) c.151+4831C>T c.2743C>T (p.Arg915Trp) c.2548C>T (p.Arg850Trp) c.2716C>T (p.Arg906Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89283697G>C | CA397161163 | ANKRD11 | c.2845C>G (p.Arg949Gly) c.*2648C>G (n.*2648C>G) c.2470C>G (p.Arg824Gly) c.744+4831C>G (n.744+4831C>G) c.151+4831C>G c.2743C>G (p.Arg915Gly) c.2548C>G (p.Arg850Gly) c.2716C>G (p.Arg906Gly) | dbSNP gnomAD v2 |
| 16 | g.89283697G= | CA2241601884 | ANKRD11 | c.2845C= (p.Arg949=) c.*2648C= (n.*2648C=) c.2470C= (p.Arg824=) c.744+4831C= (n.744+4831C=) c.151+4831C= c.2743C= (p.Arg915=) c.2548C= (p.Arg850=) c.2716C= (p.Arg906=) | |
| 16 | g.89283697G>T | CA497374952 | ANKRD11 | c.2845C>A (p.Arg949=) c.*2648C>A (n.*2648C>A) c.2470C>A (p.Arg824=) c.744+4831C>A (n.744+4831C>A) c.151+4831C>A c.2743C>A (p.Arg915=) c.2548C>A (p.Arg850=) c.2716C>A (p.Arg906=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89283698C>A | CA497374953 | ANKRD11 | c.2844G>T (p.Gly948=) c.*2647G>T (n.*2647G>T) c.2469G>T (p.Gly823=) c.744+4830G>T (n.744+4830G>T) c.151+4830G>T c.2742G>T (p.Gly914=) c.2547G>T (p.Gly849=) c.2715G>T (p.Gly905=) | |
| 16 | g.89283698C>G | CA497374954 | ANKRD11 | c.2844G>C (p.Gly948=) c.*2647G>C (n.*2647G>C) c.2469G>C (p.Gly823=) c.744+4830G>C (n.744+4830G>C) c.151+4830G>C c.2742G>C (p.Gly914=) c.2547G>C (p.Gly849=) c.2715G>C (p.Gly905=) | |
| 16 | g.89283698C>T | CA497374955 | ANKRD11 | c.2844G>A (p.Gly948=) c.*2647G>A (n.*2647G>A) c.2469G>A (p.Gly823=) c.744+4830G>A (n.744+4830G>A) c.151+4830G>A c.2742G>A (p.Gly914=) c.2547G>A (p.Gly849=) c.2715G>A (p.Gly905=) | |
| 16 | g.89283699C>A | CA397161164 | ANKRD11 | c.2843G>T (p.Gly948Val) c.*2646G>T (n.*2646G>T) c.2468G>T (p.Gly823Val) c.744+4829G>T (n.744+4829G>T) c.151+4829G>T c.2741G>T (p.Gly914Val) c.2546G>T (p.Gly849Val) c.2714G>T (p.Gly905Val) | |
| 16 | g.89283699C>G | CA397161165 | ANKRD11 | c.2843G>C (p.Gly948Ala) c.*2646G>C (n.*2646G>C) c.2468G>C (p.Gly823Ala) c.744+4829G>C (n.744+4829G>C) c.151+4829G>C c.2741G>C (p.Gly914Ala) c.2546G>C (p.Gly849Ala) c.2714G>C (p.Gly905Ala) | |
| 16 | g.89283699C>T | CA397161166 | ANKRD11 | c.2843G>A (p.Gly948Glu) c.*2646G>A (n.*2646G>A) c.2468G>A (p.Gly823Glu) c.744+4829G>A (n.744+4829G>A) c.151+4829G>A c.2741G>A (p.Gly914Glu) c.2546G>A (p.Gly849Glu) c.2714G>A (p.Gly905Glu) | gnomAD v4 |
| 16 | g.89283700C>A | CA397161167 | ANKRD11 | c.2842G>T (p.Gly948Trp) c.*2645G>T (n.*2645G>T) c.2467G>T (p.Gly823Trp) c.744+4828G>T (n.744+4828G>T) c.151+4828G>T c.2740G>T (p.Gly914Trp) c.2545G>T (p.Gly849Trp) c.2713G>T (p.Gly905Trp) |