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.89283586T>A | CA397160919 | ANKRD11 | c.2956A>T (p.Lys986Ter) c.*2759A>T (n.*2759A>T) c.2581A>T (p.Lys861Ter) c.744+4942A>T (n.744+4942A>T) c.151+4942A>T c.2854A>T (p.Lys952Ter) c.2659A>T (p.Lys887Ter) c.2827A>T (p.Lys943Ter) | |
| 16 | g.89283586T>C | CA397160917 | ANKRD11 | c.2956A>G (p.Lys986Glu) c.*2759A>G (n.*2759A>G) c.2581A>G (p.Lys861Glu) c.744+4942A>G (n.744+4942A>G) c.151+4942A>G c.2854A>G (p.Lys952Glu) c.2659A>G (p.Lys887Glu) c.2827A>G (p.Lys943Glu) | gnomAD v4 |
| 16 | g.89283586T>G | CA397160918 | ANKRD11 | c.2956A>C (p.Lys986Gln) c.*2759A>C (n.*2759A>C) c.2581A>C (p.Lys861Gln) c.744+4942A>C (n.744+4942A>C) c.151+4942A>C c.2854A>C (p.Lys952Gln) c.2659A>C (p.Lys887Gln) c.2827A>C (p.Lys943Gln) | |
| 16 | g.89283587G>A | CA8242465 | ANKRD11 | c.2955C>T (p.Phe985=) c.*2758C>T (n.*2758C>T) c.2580C>T (p.Phe860=) c.744+4941C>T (n.744+4941C>T) c.151+4941C>T c.2853C>T (p.Phe951=) c.2658C>T (p.Phe886=) c.2826C>T (p.Phe942=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89283587G>C | CA397160920 | ANKRD11 | c.2955C>G (p.Phe985Leu) c.*2758C>G (n.*2758C>G) c.2580C>G (p.Phe860Leu) c.744+4941C>G (n.744+4941C>G) c.151+4941C>G c.2853C>G (p.Phe951Leu) c.2658C>G (p.Phe886Leu) c.2826C>G (p.Phe942Leu) | |
| 16 | g.89283587G= | CA2241601757 | ANKRD11 | c.2955C= (p.Phe985=) c.*2758C= (n.*2758C=) c.2580C= (p.Phe860=) c.744+4941C= (n.744+4941C=) c.151+4941C= c.2853C= (p.Phe951=) c.2658C= (p.Phe886=) c.2826C= (p.Phe942=) | |
| 16 | g.89283587G>T | CA397160921 | ANKRD11 | c.2955C>A (p.Phe985Leu) c.*2758C>A (n.*2758C>A) c.2580C>A (p.Phe860Leu) c.744+4941C>A (n.744+4941C>A) c.151+4941C>A c.2853C>A (p.Phe951Leu) c.2658C>A (p.Phe886Leu) c.2826C>A (p.Phe942Leu) | |
| 16 | g.89283588A>C | CA397160922 | ANKRD11 | c.2954T>G (p.Phe985Cys) c.*2757T>G (n.*2757T>G) c.2579T>G (p.Phe860Cys) c.744+4940T>G (n.744+4940T>G) c.151+4940T>G c.2852T>G (p.Phe951Cys) c.2657T>G (p.Phe886Cys) c.2825T>G (p.Phe942Cys) | |
| 16 | g.89283588A>G | CA397160923 | ANKRD11 | c.2954T>C (p.Phe985Ser) c.*2757T>C (n.*2757T>C) c.2579T>C (p.Phe860Ser) c.744+4940T>C (n.744+4940T>C) c.151+4940T>C c.2852T>C (p.Phe951Ser) c.2657T>C (p.Phe886Ser) c.2825T>C (p.Phe942Ser) | |
| 16 | g.89283588A>T | CA397160924 | ANKRD11 | c.2954T>A (p.Phe985Tyr) c.*2757T>A (n.*2757T>A) c.2579T>A (p.Phe860Tyr) c.744+4940T>A (n.744+4940T>A) c.151+4940T>A c.2852T>A (p.Phe951Tyr) c.2657T>A (p.Phe886Tyr) c.2825T>A (p.Phe942Tyr) | |
| 16 | g.89283589A>C | CA397160925 | ANKRD11 | c.2953T>G (p.Phe985Val) c.*2756T>G (n.*2756T>G) c.2578T>G (p.Phe860Val) c.744+4939T>G (n.744+4939T>G) c.151+4939T>G c.2851T>G (p.Phe951Val) c.2656T>G (p.Phe886Val) c.2824T>G (p.Phe942Val) | |
| 16 | g.89283589A>G | CA397160926 | ANKRD11 | c.2953T>C (p.Phe985Leu) c.*2756T>C (n.*2756T>C) c.2578T>C (p.Phe860Leu) c.744+4939T>C (n.744+4939T>C) c.151+4939T>C c.2851T>C (p.Phe951Leu) c.2656T>C (p.Phe886Leu) c.2824T>C (p.Phe942Leu) | |
| 16 | g.89283589A>T | CA397160927 | ANKRD11 | c.2953T>A (p.Phe985Ile) c.*2756T>A (n.*2756T>A) c.2578T>A (p.Phe860Ile) c.744+4939T>A (n.744+4939T>A) c.151+4939T>A c.2851T>A (p.Phe951Ile) c.2656T>A (p.Phe886Ile) c.2824T>A (p.Phe942Ile) | |
| 16 | g.89283590G>A | CA497374882 | ANKRD11 | c.2952C>T (p.Gly984=) c.*2755C>T (n.*2755C>T) c.2577C>T (p.Gly859=) c.744+4938C>T (n.744+4938C>T) c.151+4938C>T c.2850C>T (p.Gly950=) c.2655C>T (p.Gly885=) c.2823C>T (p.Gly941=) | |
| 16 | g.89283590G>C | CA497374883 | ANKRD11 | c.2952C>G (p.Gly984=) c.*2755C>G (n.*2755C>G) c.2577C>G (p.Gly859=) c.744+4938C>G (n.744+4938C>G) c.151+4938C>G c.2850C>G (p.Gly950=) c.2655C>G (p.Gly885=) c.2823C>G (p.Gly941=) | |
| 16 | g.89283590G>T | CA497374884 | ANKRD11 | c.2952C>A (p.Gly984=) c.*2755C>A (n.*2755C>A) c.2577C>A (p.Gly859=) c.744+4938C>A (n.744+4938C>A) c.151+4938C>A c.2850C>A (p.Gly950=) c.2655C>A (p.Gly885=) c.2823C>A (p.Gly941=) | |
| 16 | g.89283591C>A | CA8242466 | ANKRD11 | c.2951G>T (p.Gly984Val) c.*2754G>T (n.*2754G>T) c.2576G>T (p.Gly859Val) c.744+4937G>T (n.744+4937G>T) c.151+4937G>T c.2849G>T (p.Gly950Val) c.2654G>T (p.Gly885Val) c.2822G>T (p.Gly941Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89283591C= | CA2241601759 | ANKRD11 | c.2951G= (p.Gly984=) c.*2754G= (n.*2754G=) c.2576G= (p.Gly859=) c.744+4937G= (n.744+4937G=) c.151+4937G= c.2849G= (p.Gly950=) c.2654G= (p.Gly885=) c.2822G= (p.Gly941=) | |
| 16 | g.89283591C>G | CA397160929 | ANKRD11 | c.2951G>C (p.Gly984Ala) c.*2754G>C (n.*2754G>C) c.2576G>C (p.Gly859Ala) c.744+4937G>C (n.744+4937G>C) c.151+4937G>C c.2849G>C (p.Gly950Ala) c.2654G>C (p.Gly885Ala) c.2822G>C (p.Gly941Ala) | |
| 16 | g.89283591C>T | CA397160928 | ANKRD11 | c.2951G>A (p.Gly984Asp) c.*2754G>A (n.*2754G>A) c.2576G>A (p.Gly859Asp) c.744+4937G>A (n.744+4937G>A) c.151+4937G>A c.2849G>A (p.Gly950Asp) c.2654G>A (p.Gly885Asp) c.2822G>A (p.Gly941Asp) | |
| 16 | g.89283592C>A | CA397160930 | ANKRD11 | c.2950G>T (p.Gly984Cys) c.*2753G>T (n.*2753G>T) c.2575G>T (p.Gly859Cys) c.744+4936G>T (n.744+4936G>T) c.151+4936G>T c.2848G>T (p.Gly950Cys) c.2653G>T (p.Gly885Cys) c.2821G>T (p.Gly941Cys) | |
| 16 | g.89283592C= | CA2241601761 | ANKRD11 | c.2950G= (p.Gly984=) c.*2753G= (n.*2753G=) c.2575G= (p.Gly859=) c.744+4936G= (n.744+4936G=) c.151+4936G= c.2848G= (p.Gly950=) c.2653G= (p.Gly885=) c.2821G= (p.Gly941=) | |
| 16 | g.89283592C>G | CA397160931 | ANKRD11 | c.2950G>C (p.Gly984Arg) c.*2753G>C (n.*2753G>C) c.2575G>C (p.Gly859Arg) c.744+4936G>C (n.744+4936G>C) c.151+4936G>C c.2848G>C (p.Gly950Arg) c.2653G>C (p.Gly885Arg) c.2821G>C (p.Gly941Arg) | |
| 16 | g.89283592C>T | CA286518660 | ANKRD11 | c.2950G>A (p.Gly984Ser) c.*2753G>A (n.*2753G>A) c.2575G>A (p.Gly859Ser) c.744+4936G>A (n.744+4936G>A) c.151+4936G>A c.2848G>A (p.Gly950Ser) c.2653G>A (p.Gly885Ser) c.2821G>A (p.Gly941Ser) | dbSNP |
| 16 | g.89283593A>C | CA397160932 | ANKRD11 | c.2949T>G (p.Ser983Arg) c.*2752T>G (n.*2752T>G) c.2574T>G (p.Ser858Arg) c.744+4935T>G (n.744+4935T>G) c.151+4935T>G c.2847T>G (p.Ser949Arg) c.2652T>G (p.Ser884Arg) c.2820T>G (p.Ser940Arg) | gnomAD v3 gnomAD v4 |
| 16 | g.89283593A>G | CA497374885 | ANKRD11 | c.2949T>C (p.Ser983=) c.*2752T>C (n.*2752T>C) c.2574T>C (p.Ser858=) c.744+4935T>C (n.744+4935T>C) c.151+4935T>C c.2847T>C (p.Ser949=) c.2652T>C (p.Ser884=) c.2820T>C (p.Ser940=) | COSMIC |
| 16 | g.89283593A>T | CA397160933 | ANKRD11 | c.2949T>A (p.Ser983Arg) c.*2752T>A (n.*2752T>A) c.2574T>A (p.Ser858Arg) c.744+4935T>A (n.744+4935T>A) c.151+4935T>A c.2847T>A (p.Ser949Arg) c.2652T>A (p.Ser884Arg) c.2820T>A (p.Ser940Arg) | |
| 16 | g.89283594C>A | CA397160934 | ANKRD11 | c.2948G>T (p.Ser983Ile) c.*2751G>T (n.*2751G>T) c.2573G>T (p.Ser858Ile) c.744+4934G>T (n.744+4934G>T) c.151+4934G>T c.2846G>T (p.Ser949Ile) c.2651G>T (p.Ser884Ile) c.2819G>T (p.Ser940Ile) | |
| 16 | g.89283594C= | CA2241601763 | ANKRD11 | c.2948G= (p.Ser983=) c.*2751G= (n.*2751G=) c.2573G= (p.Ser858=) c.744+4934G= (n.744+4934G=) c.151+4934G= c.2846G= (p.Ser949=) c.2651G= (p.Ser884=) c.2819G= (p.Ser940=) | |
| 16 | g.89283594C>G | CA397160935 | ANKRD11 | c.2948G>C (p.Ser983Thr) c.*2751G>C (n.*2751G>C) c.2573G>C (p.Ser858Thr) c.744+4934G>C (n.744+4934G>C) c.151+4934G>C c.2846G>C (p.Ser949Thr) c.2651G>C (p.Ser884Thr) c.2819G>C (p.Ser940Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89283594C>T | CA397160936 | ANKRD11 | c.2948G>A (p.Ser983Asn) c.*2751G>A (n.*2751G>A) c.2573G>A (p.Ser858Asn) c.744+4934G>A (n.744+4934G>A) c.151+4934G>A c.2846G>A (p.Ser949Asn) c.2651G>A (p.Ser884Asn) c.2819G>A (p.Ser940Asn) | |
| 16 | g.89283595T>A | CA397160937 | ANKRD11 | c.2947A>T (p.Ser983Cys) c.*2750A>T (n.*2750A>T) c.2572A>T (p.Ser858Cys) c.744+4933A>T (n.744+4933A>T) c.151+4933A>T c.2845A>T (p.Ser949Cys) c.2650A>T (p.Ser884Cys) c.2818A>T (p.Ser940Cys) | |
| 16 | g.89283595T>C | CA397160938 | ANKRD11 | c.2947A>G (p.Ser983Gly) c.*2750A>G (n.*2750A>G) c.2572A>G (p.Ser858Gly) c.744+4933A>G (n.744+4933A>G) c.151+4933A>G c.2845A>G (p.Ser949Gly) c.2650A>G (p.Ser884Gly) c.2818A>G (p.Ser940Gly) | |
| 16 | g.89283595T>G | CA397160939 | ANKRD11 | c.2947A>C (p.Ser983Arg) c.*2750A>C (n.*2750A>C) c.2572A>C (p.Ser858Arg) c.744+4933A>C (n.744+4933A>C) c.151+4933A>C c.2845A>C (p.Ser949Arg) c.2650A>C (p.Ser884Arg) c.2818A>C (p.Ser940Arg) | |
| 16 | g.89283596C>A | CA397160940 | ANKRD11 | c.2946G>T (p.Glu982Asp) c.*2749G>T (n.*2749G>T) c.2571G>T (p.Glu857Asp) c.744+4932G>T (n.744+4932G>T) c.151+4932G>T c.2844G>T (p.Glu948Asp) c.2649G>T (p.Glu883Asp) c.2817G>T (p.Glu939Asp) | gnomAD v4 |
| 16 | g.89283596C= | CA2241601765 | ANKRD11 | c.2946G= (p.Glu982=) c.*2749G= (n.*2749G=) c.2571G= (p.Glu857=) c.744+4932G= (n.744+4932G=) c.151+4932G= c.2844G= (p.Glu948=) c.2649G= (p.Glu883=) c.2817G= (p.Glu939=) | |
| 16 | g.89283596C>G | CA8242467 | ANKRD11 | c.2946G>C (p.Glu982Asp) c.*2749G>C (n.*2749G>C) c.2571G>C (p.Glu857Asp) c.744+4932G>C (n.744+4932G>C) c.151+4932G>C c.2844G>C (p.Glu948Asp) c.2649G>C (p.Glu883Asp) c.2817G>C (p.Glu939Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89283596C>T | CA497374886 | ANKRD11 | c.2946G>A (p.Glu982=) c.*2749G>A (n.*2749G>A) c.2571G>A (p.Glu857=) c.744+4932G>A (n.744+4932G>A) c.151+4932G>A c.2844G>A (p.Glu948=) c.2649G>A (p.Glu883=) c.2817G>A (p.Glu939=) | gnomAD v4 |
| 16 | g.89283597T>A | CA397160942 | ANKRD11 | c.2945A>T (p.Glu982Val) c.*2748A>T (n.*2748A>T) c.2570A>T (p.Glu857Val) c.744+4931A>T (n.744+4931A>T) c.151+4931A>T c.2843A>T (p.Glu948Val) c.2648A>T (p.Glu883Val) c.2816A>T (p.Glu939Val) | |
| 16 | g.89283597T>C | CA397160943 | ANKRD11 | c.2945A>G (p.Glu982Gly) c.*2748A>G (n.*2748A>G) c.2570A>G (p.Glu857Gly) c.744+4931A>G (n.744+4931A>G) c.151+4931A>G c.2843A>G (p.Glu948Gly) c.2648A>G (p.Glu883Gly) c.2816A>G (p.Glu939Gly) | |
| 16 | g.89283597T>G | CA397160941 | ANKRD11 | c.2945A>C (p.Glu982Ala) c.*2748A>C (n.*2748A>C) c.2570A>C (p.Glu857Ala) c.744+4931A>C (n.744+4931A>C) c.151+4931A>C c.2843A>C (p.Glu948Ala) c.2648A>C (p.Glu883Ala) c.2816A>C (p.Glu939Ala) | gnomAD v4 |
| 16 | g.89283598C>A | CA397160944 | ANKRD11 | c.2944G>T (p.Glu982Ter) c.*2747G>T (n.*2747G>T) c.2569G>T (p.Glu857Ter) c.744+4930G>T (n.744+4930G>T) c.151+4930G>T c.2842G>T (p.Glu948Ter) c.2647G>T (p.Glu883Ter) c.2815G>T (p.Glu939Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89283598C= | CA2241601767 | ANKRD11 | c.2944G= (p.Glu982=) c.*2747G= (n.*2747G=) c.2569G= (p.Glu857=) c.744+4930G= (n.744+4930G=) c.151+4930G= c.2842G= (p.Glu948=) c.2647G= (p.Glu883=) c.2815G= (p.Glu939=) | |
| 16 | g.89283598C>G | CA8242468 | ANKRD11 | c.2944G>C (p.Glu982Gln) c.*2747G>C (n.*2747G>C) c.2569G>C (p.Glu857Gln) c.744+4930G>C (n.744+4930G>C) c.151+4930G>C c.2842G>C (p.Glu948Gln) c.2647G>C (p.Glu883Gln) c.2815G>C (p.Glu939Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89283598C>T | CA397160945 | ANKRD11 | c.2944G>A (p.Glu982Lys) c.*2747G>A (n.*2747G>A) c.2569G>A (p.Glu857Lys) c.744+4930G>A (n.744+4930G>A) c.151+4930G>A c.2842G>A (p.Glu948Lys) c.2647G>A (p.Glu883Lys) c.2815G>A (p.Glu939Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89283599G>A | CA8242469 | ANKRD11 | c.2943C>T (p.Cys981=) c.*2746C>T (n.*2746C>T) c.2568C>T (p.Cys856=) c.744+4929C>T (n.744+4929C>T) c.151+4929C>T c.2841C>T (p.Cys947=) c.2646C>T (p.Cys882=) c.2814C>T (p.Cys938=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89283599G>C | CA397160946 | ANKRD11 | c.2943C>G (p.Cys981Trp) c.*2746C>G (n.*2746C>G) c.2568C>G (p.Cys856Trp) c.744+4929C>G (n.744+4929C>G) c.151+4929C>G c.2841C>G (p.Cys947Trp) c.2646C>G (p.Cys882Trp) c.2814C>G (p.Cys938Trp) | |
| 16 | g.89283599G= | CA2241601770 | ANKRD11 | c.2943C= (p.Cys981=) c.*2746C= (n.*2746C=) c.2568C= (p.Cys856=) c.744+4929C= (n.744+4929C=) c.151+4929C= c.2841C= (p.Cys947=) c.2646C= (p.Cys882=) c.2814C= (p.Cys938=) | |
| 16 | g.89283599G>T | CA397160947 | ANKRD11 | c.2943C>A (p.Cys981Ter) c.*2746C>A (n.*2746C>A) c.2568C>A (p.Cys856Ter) c.744+4929C>A (n.744+4929C>A) c.151+4929C>A c.2841C>A (p.Cys947Ter) c.2646C>A (p.Cys882Ter) c.2814C>A (p.Cys938Ter) | |
| 16 | g.89283600C>A | CA397160948 | ANKRD11 | c.2942G>T (p.Cys981Phe) c.*2745G>T (n.*2745G>T) c.2567G>T (p.Cys856Phe) c.744+4928G>T (n.744+4928G>T) c.151+4928G>T c.2840G>T (p.Cys947Phe) c.2645G>T (p.Cys882Phe) c.2813G>T (p.Cys938Phe) | dbSNP gnomAD v3 gnomAD v4 |