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.16169661_16169713delinsGGAGCCCGAAGATCCCGCCACGCAGGGCTGCCTGCGTCTGCTGCCCACCTACT | CA2210143231 | ABCC6 | c.2928_2980delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC (p.Ala976=) c.2753_2805delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC (n.2753_2805delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC) c.*137_*189delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC (n.*137_*189delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC) c.2895_2947delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC (p.Ala965=) c.2586_2638delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC (p.Ala862=) n.3163_3215delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC n.3164_3216delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC n.2790_2842delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC c.2760_2812delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC (p.Ala920=) c.2964_3016delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC (p.Ala988=) n.3109_3161delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC | |
| 16 | g.16169663_16169714del | CA7925728 | ABCC6 | c.2928_2979del (p.Val977SerfsTer18) c.2753_2804del (n.2753_2804del) c.*137_*188del (n.*137_*188del) c.2895_2946del (p.Val966SerfsTer18) c.2586_2637del (p.Val863SerfsTer18) n.3163_3214del n.3164_3215del n.2790_2841del c.2760_2811del (p.Val921SerfsTer18) c.2964_3015del (p.Val989SerfsTer18) n.3109_3160del | dbSNP ExAC gnomAD v2 |
| 16 | g.16169686G>A | CA493799354 | ABCC6 | c.2955C>T (p.Ala985=) c.2780C>T (n.2780C>T) c.*164C>T (n.*164C>T) c.2922C>T (p.Ala974=) c.2613C>T (p.Ala871=) n.3190C>T n.3191C>T n.2817C>T c.2787C>T (p.Ala929=) c.2991C>T (p.Ala997=) n.3136C>T | |
| 16 | g.16169686G>C | CA493799356 | ABCC6 | c.2955C>G (p.Ala985=) c.2780C>G (n.2780C>G) c.*164C>G (n.*164C>G) c.2922C>G (p.Ala974=) c.2613C>G (p.Ala871=) n.3190C>G n.3191C>G n.2817C>G c.2787C>G (p.Ala929=) c.2991C>G (p.Ala997=) n.3136C>G | |
| 16 | g.16169686G>T | CA493799357 | ABCC6 | c.2955C>A (p.Ala985=) c.2780C>A (n.2780C>A) c.*164C>A (n.*164C>A) c.2922C>A (p.Ala974=) c.2613C>A (p.Ala871=) n.3190C>A n.3191C>A n.2817C>A c.2787C>A (p.Ala929=) c.2991C>A (p.Ala997=) n.3136C>A | ClinVar |
| 16 | g.16169687G>A | CA394884320 | ABCC6 | c.2954C>T (p.Ala985Val) c.2779C>T (n.2779C>T) c.*163C>T (n.*163C>T) c.2921C>T (p.Ala974Val) c.2612C>T (p.Ala871Val) n.3189C>T n.3190C>T n.2816C>T c.2786C>T (p.Ala929Val) c.2990C>T (p.Ala997Val) n.3135C>T | ClinVar gnomAD v4 |
| 16 | g.16169687G>C | CA394884323 | ABCC6 | c.2954C>G (p.Ala985Gly) c.2779C>G (n.2779C>G) c.*163C>G (n.*163C>G) c.2921C>G (p.Ala974Gly) c.2612C>G (p.Ala871Gly) n.3189C>G n.3190C>G n.2816C>G c.2786C>G (p.Ala929Gly) c.2990C>G (p.Ala997Gly) n.3135C>G | |
| 16 | g.16169687G= | CA2210143244 | ABCC6 | c.2954C= (p.Ala985=) c.2779C= (n.2779C=) c.*163C= (n.*163C=) c.2921C= (p.Ala974=) c.2612C= (p.Ala871=) n.3189C= n.3190C= n.2816C= c.2786C= (p.Ala929=) c.2990C= (p.Ala997=) n.3135C= | |
| 16 | g.16169687G>T | CA7925737 | ABCC6 | c.2954C>A (p.Ala985Asp) c.2779C>A (n.2779C>A) c.*163C>A (n.*163C>A) c.2921C>A (p.Ala974Asp) c.2612C>A (p.Ala871Asp) n.3189C>A n.3190C>A n.2816C>A c.2786C>A (p.Ala929Asp) c.2990C>A (p.Ala997Asp) n.3135C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.16169688C>A | CA394884328 | ABCC6 | c.2953G>T (p.Ala985Ser) c.2778G>T (n.2778G>T) c.*162G>T (n.*162G>T) c.2920G>T (p.Ala974Ser) c.2611G>T (p.Ala871Ser) n.3188G>T n.3189G>T n.2815G>T c.2785G>T (p.Ala929Ser) c.2989G>T (p.Ala997Ser) n.3134G>T | gnomAD v4 |
| 16 | g.16169688C>G | CA394884330 | ABCC6 | c.2953G>C (p.Ala985Pro) c.2778G>C (n.2778G>C) c.*162G>C (n.*162G>C) c.2920G>C (p.Ala974Pro) c.2611G>C (p.Ala871Pro) n.3188G>C n.3189G>C n.2815G>C c.2785G>C (p.Ala929Pro) c.2989G>C (p.Ala997Pro) n.3134G>C | gnomAD v4 |
| 16 | g.16169688C>T | CA394884333 | ABCC6 | c.2953G>A (p.Ala985Thr) c.2778G>A (n.2778G>A) c.*162G>A (n.*162G>A) c.2920G>A (p.Ala974Thr) c.2611G>A (p.Ala871Thr) n.3188G>A n.3189G>A n.2815G>A c.2785G>A (p.Ala929Thr) c.2989G>A (p.Ala997Thr) n.3134G>A | |
| 16 | g.16169689T>A | CA493799359 | ABCC6 | c.2952A>T (p.Ala984=) c.2777A>T (n.2777A>T) c.*161A>T (n.*161A>T) c.2919A>T (p.Ala973=) c.2610A>T (p.Ala870=) n.3187A>T n.3188A>T n.2814A>T c.2784A>T (p.Ala928=) c.2988A>T (p.Ala996=) n.3133A>T | |
| 16 | g.16169689T>C | CA493799360 | ABCC6 | c.2952A>G (p.Ala984=) c.2777A>G (n.2777A>G) c.*161A>G (n.*161A>G) c.2919A>G (p.Ala973=) c.2610A>G (p.Ala870=) n.3187A>G n.3188A>G n.2814A>G c.2784A>G (p.Ala928=) c.2988A>G (p.Ala996=) n.3133A>G | |
| 16 | g.16169689T>G | CA493799361 | ABCC6 | c.2952A>C (p.Ala984=) c.2777A>C (n.2777A>C) c.*161A>C (n.*161A>C) c.2919A>C (p.Ala973=) c.2610A>C (p.Ala870=) n.3187A>C n.3188A>C n.2814A>C c.2784A>C (p.Ala928=) c.2988A>C (p.Ala996=) n.3133A>C | |
| 16 | g.16169690del | CA2575924773 | ABCC6 | c.2951del (p.Ala984GlufsTer28) c.2776del (n.2776del) c.*160del (n.*160del) c.2918del (p.Ala973GlufsTer28) c.2609del (p.Ala870GlufsTer28) n.3186del n.3187del n.2813del c.2783del (p.Ala928GlufsTer28) c.2987del (p.Ala996GlufsTer28) n.3132del | |
| 16 | g.16169690G>A | CA394884336 | ABCC6 | c.2951C>T (p.Ala984Val) c.2776C>T (n.2776C>T) c.*160C>T (n.*160C>T) c.2918C>T (p.Ala973Val) c.2609C>T (p.Ala870Val) n.3186C>T n.3187C>T n.2813C>T c.2783C>T (p.Ala928Val) c.2987C>T (p.Ala996Val) n.3132C>T | gnomAD v4 |
| 16 | g.16169690G>C | CA394884339 | ABCC6 | c.2951C>G (p.Ala984Gly) c.2776C>G (n.2776C>G) c.*160C>G (n.*160C>G) c.2918C>G (p.Ala973Gly) c.2609C>G (p.Ala870Gly) n.3186C>G n.3187C>G n.2813C>G c.2783C>G (p.Ala928Gly) c.2987C>G (p.Ala996Gly) n.3132C>G | |
| 16 | g.16169690G>T | CA394884340 | ABCC6 | c.2951C>A (p.Ala984Glu) c.2776C>A (n.2776C>A) c.*160C>A (n.*160C>A) c.2918C>A (p.Ala973Glu) c.2609C>A (p.Ala870Glu) n.3186C>A n.3187C>A n.2813C>A c.2783C>A (p.Ala928Glu) c.2987C>A (p.Ala996Glu) n.3132C>A | |
| 16 | g.16169691C>A | CA394884349 | ABCC6 | c.2950G>T (p.Ala984Ser) c.2775G>T (n.2775G>T) c.*159G>T (n.*159G>T) c.2917G>T (p.Ala973Ser) c.2608G>T (p.Ala870Ser) n.3185G>T n.3186G>T n.2812G>T c.2782G>T (p.Ala928Ser) c.2986G>T (p.Ala996Ser) n.3131G>T | |
| 16 | g.16169691C= | CA2210143245 | ABCC6 | c.2950G= (p.Ala984=) c.2775G= (n.2775G=) c.*159G= (n.*159G=) c.2917G= (p.Ala973=) c.2608G= (p.Ala870=) n.3185G= n.3186G= n.2812G= c.2782G= (p.Ala928=) c.2986G= (p.Ala996=) n.3131G= | |
| 16 | g.16169691C>G | CA394884346 | ABCC6 | c.2950G>C (p.Ala984Pro) c.2775G>C (n.2775G>C) c.*159G>C (n.*159G>C) c.2917G>C (p.Ala973Pro) c.2608G>C (p.Ala870Pro) n.3185G>C n.3186G>C n.2812G>C c.2782G>C (p.Ala928Pro) c.2986G>C (p.Ala996Pro) n.3131G>C | |
| 16 | g.16169691C>T | CA394884343 | ABCC6 | c.2950G>A (p.Ala984Thr) c.2775G>A (n.2775G>A) c.*159G>A (n.*159G>A) c.2917G>A (p.Ala973Thr) c.2608G>A (p.Ala870Thr) n.3185G>A n.3186G>A n.2812G>A c.2782G>A (p.Ala928Thr) c.2986G>A (p.Ala996Thr) n.3131G>A | dbSNP |
| 16 | g.16169692C>A | CA394884351 | ABCC6 | c.2949G>T (p.Gln983His) c.2774G>T (n.2774G>T) c.*158G>T (n.*158G>T) c.2916G>T (p.Gln972His) c.2607G>T (p.Gln869His) n.3184G>T n.3185G>T n.2811G>T c.2781G>T (p.Gln927His) c.2985G>T (p.Gln995His) n.3130G>T | |
| 16 | g.16169692C= | CA2210143246 | ABCC6 | c.2949G= (p.Gln983=) c.2774G= (n.2774G=) c.*158G= (n.*158G=) c.2916G= (p.Gln972=) c.2607G= (p.Gln869=) n.3184G= n.3185G= n.2811G= c.2781G= (p.Gln927=) c.2985G= (p.Gln995=) n.3130G= | |
| 16 | g.16169692C>G | CA394884352 | ABCC6 | c.2949G>C (p.Gln983His) c.2774G>C (n.2774G>C) c.*158G>C (n.*158G>C) c.2916G>C (p.Gln972His) c.2607G>C (p.Gln869His) n.3184G>C n.3185G>C n.2811G>C c.2781G>C (p.Gln927His) c.2985G>C (p.Gln995His) n.3130G>C | |
| 16 | g.16169692C>T | CA493799363 | ABCC6 | c.2949G>A (p.Gln983=) c.2774G>A (n.2774G>A) c.*158G>A (n.*158G>A) c.2916G>A (p.Gln972=) c.2607G>A (p.Gln869=) n.3184G>A n.3185G>A n.2811G>A c.2781G>A (p.Gln927=) c.2985G>A (p.Gln995=) n.3130G>A | dbSNP COSMIC |
| 16 | g.16169693T>A | CA394884356 | ABCC6 | c.2948A>T (p.Gln983Leu) c.2773A>T (n.2773A>T) c.*157A>T (n.*157A>T) c.2915A>T (p.Gln972Leu) c.2606A>T (p.Gln869Leu) n.3183A>T n.3184A>T n.2810A>T c.2780A>T (p.Gln927Leu) c.2984A>T (p.Gln995Leu) n.3129A>T | |
| 16 | g.16169693T>C | CA394884358 | ABCC6 | c.2948A>G (p.Gln983Arg) c.2773A>G (n.2773A>G) c.*157A>G (n.*157A>G) c.2915A>G (p.Gln972Arg) c.2606A>G (p.Gln869Arg) n.3183A>G n.3184A>G n.2810A>G c.2780A>G (p.Gln927Arg) c.2984A>G (p.Gln995Arg) n.3129A>G | |
| 16 | g.16169693T>G | CA394884360 | ABCC6 | c.2948A>C (p.Gln983Pro) c.2773A>C (n.2773A>C) c.*157A>C (n.*157A>C) c.2915A>C (p.Gln972Pro) c.2606A>C (p.Gln869Pro) n.3183A>C n.3184A>C n.2810A>C c.2780A>C (p.Gln927Pro) c.2984A>C (p.Gln995Pro) n.3129A>C | |
| 16 | g.16169694G>A | CA394884363 | ABCC6 | c.2947C>T (p.Gln983Ter) c.2772C>T (n.2772C>T) c.*156C>T (n.*156C>T) c.2914C>T (p.Gln972Ter) c.2605C>T (p.Gln869Ter) n.3182C>T n.3183C>T n.2809C>T c.2779C>T (p.Gln927Ter) c.2983C>T (p.Gln995Ter) n.3128C>T | |
| 16 | g.16169694G>C | CA394884365 | ABCC6 | c.2947C>G (p.Gln983Glu) c.2772C>G (n.2772C>G) c.*156C>G (n.*156C>G) c.2914C>G (p.Gln972Glu) c.2605C>G (p.Gln869Glu) n.3182C>G n.3183C>G n.2809C>G c.2779C>G (p.Gln927Glu) c.2983C>G (p.Gln995Glu) n.3128C>G | |
| 16 | g.16169694G>T | CA394884367 | ABCC6 | c.2947C>A (p.Gln983Lys) c.2772C>A (n.2772C>A) c.*156C>A (n.*156C>A) c.2914C>A (p.Gln972Lys) c.2605C>A (p.Gln869Lys) n.3182C>A n.3183C>A n.2809C>A c.2779C>A (p.Gln927Lys) c.2983C>A (p.Gln995Lys) n.3128C>A | |
| 16 | g.16169695C>A | CA493799364 | ABCC6 | c.2946G>T (p.Thr982=) c.2771G>T (n.2771G>T) c.*155G>T (n.*155G>T) c.2913G>T (p.Thr971=) c.2604G>T (p.Thr868=) n.3181G>T n.3182G>T n.2808G>T c.2778G>T (p.Thr926=) c.2982G>T (p.Thr994=) n.3127G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16169695C= | CA2210143247 | ABCC6 | c.2946G= (p.Thr982=) c.2771G= (n.2771G=) c.*155G= (n.*155G=) c.2913G= (p.Thr971=) c.2604G= (p.Thr868=) n.3181G= n.3182G= n.2808G= c.2778G= (p.Thr926=) c.2982G= (p.Thr994=) n.3127G= | |
| 16 | g.16169695C>G | CA493799367 | ABCC6 | c.2946G>C (p.Thr982=) c.2771G>C (n.2771G>C) c.*155G>C (n.*155G>C) c.2913G>C (p.Thr971=) c.2604G>C (p.Thr868=) n.3181G>C n.3182G>C n.2808G>C c.2778G>C (p.Thr926=) c.2982G>C (p.Thr994=) n.3127G>C | |
| 16 | g.16169695C>T | CA7925738 | ABCC6 | c.2946G>A (p.Thr982=) c.2771G>A (n.2771G>A) c.*155G>A (n.*155G>A) c.2913G>A (p.Thr971=) c.2604G>A (p.Thr868=) n.3181G>A n.3182G>A n.2808G>A c.2778G>A (p.Thr926=) c.2982G>A (p.Thr994=) n.3127G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16169696G>A | CA7925739 | ABCC6 | c.2945C>T (p.Thr982Met) c.2770C>T (n.2770C>T) c.*154C>T (n.*154C>T) c.2912C>T (p.Thr971Met) c.2603C>T (p.Thr868Met) n.3180C>T n.3181C>T n.2807C>T c.2777C>T (p.Thr926Met) c.2981C>T (p.Thr994Met) n.3126C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16169696G>C | CA394884373 | ABCC6 | c.2945C>G (p.Thr982Arg) c.2770C>G (n.2770C>G) c.*154C>G (n.*154C>G) c.2912C>G (p.Thr971Arg) c.2603C>G (p.Thr868Arg) n.3180C>G n.3181C>G n.2807C>G c.2777C>G (p.Thr926Arg) c.2981C>G (p.Thr994Arg) n.3126C>G | |
| 16 | g.16169696G= | CA2210143248 | ABCC6 | c.2945C= (p.Thr982=) c.2770C= (n.2770C=) c.*154C= (n.*154C=) c.2912C= (p.Thr971=) c.2603C= (p.Thr868=) n.3180C= n.3181C= n.2807C= c.2777C= (p.Thr926=) c.2981C= (p.Thr994=) n.3126C= | |
| 16 | g.16169696G>T | CA394884375 | ABCC6 | c.2945C>A (p.Thr982Lys) c.2770C>A (n.2770C>A) c.*154C>A (n.*154C>A) c.2912C>A (p.Thr971Lys) c.2603C>A (p.Thr868Lys) n.3180C>A n.3181C>A n.2807C>A c.2777C>A (p.Thr926Lys) c.2981C>A (p.Thr994Lys) n.3126C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.16169697T>A | CA394884378 | ABCC6 | c.2944A>T (p.Thr982Ser) c.2769A>T (n.2769A>T) c.*153A>T (n.*153A>T) c.2911A>T (p.Thr971Ser) c.2602A>T (p.Thr868Ser) n.3179A>T n.3180A>T n.2806A>T c.2776A>T (p.Thr926Ser) c.2980A>T (p.Thr994Ser) n.3125A>T | |
| 16 | g.16169697T>C | CA394884381 | ABCC6 | c.2944A>G (p.Thr982Ala) c.2769A>G (n.2769A>G) c.*153A>G (n.*153A>G) c.2911A>G (p.Thr971Ala) c.2602A>G (p.Thr868Ala) n.3179A>G n.3180A>G n.2806A>G c.2776A>G (p.Thr926Ala) c.2980A>G (p.Thr994Ala) n.3125A>G | |
| 16 | g.16169697T>G | CA394884383 | ABCC6 | c.2944A>C (p.Thr982Pro) c.2769A>C (n.2769A>C) c.*153A>C (n.*153A>C) c.2911A>C (p.Thr971Pro) c.2602A>C (p.Thr868Pro) n.3179A>C n.3180A>C n.2806A>C c.2776A>C (p.Thr926Pro) c.2980A>C (p.Thr994Pro) n.3125A>C | |
| 16 | g.16169698C>A | CA7925740 | ABCC6 | c.2943G>T (p.Gln981His) c.2768G>T (n.2768G>T) c.*152G>T (n.*152G>T) c.2910G>T (p.Gln970His) c.2601G>T (p.Gln867His) n.3178G>T n.3179G>T n.2805G>T c.2775G>T (p.Gln925His) c.2979G>T (p.Gln993His) n.3124G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16169698C= | CA2210143249 | ABCC6 | c.2943G= (p.Gln981=) c.2768G= (n.2768G=) c.*152G= (n.*152G=) c.2910G= (p.Gln970=) c.2601G= (p.Gln867=) n.3178G= n.3179G= n.2805G= c.2775G= (p.Gln925=) c.2979G= (p.Gln993=) n.3124G= | |
| 16 | g.16169698C>G | CA394884389 | ABCC6 | c.2943G>C (p.Gln981His) c.2768G>C (n.2768G>C) c.*152G>C (n.*152G>C) c.2910G>C (p.Gln970His) c.2601G>C (p.Gln867His) n.3178G>C n.3179G>C n.2805G>C c.2775G>C (p.Gln925His) c.2979G>C (p.Gln993His) n.3124G>C | |
| 16 | g.16169698C>T | CA7925741 | ABCC6 | c.2943G>A (p.Gln981=) c.2768G>A (n.2768G>A) c.*152G>A (n.*152G>A) c.2910G>A (p.Gln970=) c.2601G>A (p.Gln867=) n.3178G>A n.3179G>A n.2805G>A c.2775G>A (p.Gln925=) c.2979G>A (p.Gln993=) n.3124G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16169699T>A | CA394884392 | ABCC6 | c.2942A>T (p.Gln981Leu) c.2767A>T (n.2767A>T) c.*151A>T (n.*151A>T) c.2909A>T (p.Gln970Leu) c.2600A>T (p.Gln867Leu) n.3177A>T n.3178A>T n.2804A>T c.2774A>T (p.Gln925Leu) c.2978A>T (p.Gln993Leu) n.3123A>T | |
| 16 | g.16169699T>C | CA394884395 | ABCC6 | c.2942A>G (p.Gln981Arg) c.2767A>G (n.2767A>G) c.*151A>G (n.*151A>G) c.2909A>G (p.Gln970Arg) c.2600A>G (p.Gln867Arg) n.3177A>G n.3178A>G n.2804A>G c.2774A>G (p.Gln925Arg) c.2978A>G (p.Gln993Arg) n.3123A>G |