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 |
|---|---|---|---|---|---|
| 17 | g.31229684_31230095dup | CA277578 | NF1 | c.2896-151_3035+121dup c.196-151_335+121dup c.2881-151_3020+121dup c.2851-151_2990+121dup c.1849-151_1988+121dup n.1236_1526+121dup c.2626-151_2765+121dup c.2953-151_3092+121dup c.2842-151_2981+121dup c.2878-151_3017+121dup | ClinVar dbSNP |
| 17 | g.31229839_31230536dup | CA2580093409 | NF1 | c.2900_3158+154dup c.200_458+154dup c.2885_3143+154dup c.2855_3113+154dup c.1853_2111+154dup n.1391_1649+154dup c.2630_2888+154dup c.2957_3215+154dup c.2846_3104+154dup c.2882_3140+154dup | ClinVar |
| 17 | g.31229953_31229954dup | CA658656554 | NF1 | c.3014_3015dup (p.Met1006GlnfsTer2) c.314_315dup (p.Met106GlnfsTer2) c.2999_3000dup (p.Met1001GlnfsTer2) c.2969_2970dup (p.Met991GlnfsTer2) c.1967_1968dup (p.Met657GlnfsTer2) n.1505_1506dup c.2744_2745dup c.3071_3072dup (p.Met1025GlnfsTer2) c.2960_2961dup (p.Met988GlnfsTer2) c.2996_2997dup (p.Met1000GlnfsTer2) | ClinVar dbSNP |
| 17 | g.31229953_31229955delinsCAA | CA2255566638 | NF1 | c.3014_3016delinsCAA (p.Thr1005=) c.314_316delinsCAA (p.Thr105=) c.2999_3001delinsCAA (p.Thr1000=) c.2969_2971delinsCAA (p.Thr990=) c.1967_1969delinsCAA (p.Thr656=) n.1505_1507delinsCAA c.2744_2746delinsCAA c.3071_3073delinsCAA (p.Thr1024=) c.2960_2962delinsCAA (p.Thr987=) c.2996_2998delinsCAA (p.Thr999=) | |
| 17 | g.31229953_31229956delinsCAAT | CA2255566637 | NF1 | c.3014_3017delinsCAAT (p.Thr1005=) c.314_317delinsCAAT (p.Thr105=) c.2999_3002delinsCAAT (p.Thr1000=) c.2969_2972delinsCAAT (p.Thr990=) c.1967_1970delinsCAAT (p.Thr656=) n.1505_1508delinsCAAT c.2744_2747delinsCAAT c.3071_3074delinsCAAT (p.Thr1024=) c.2960_2963delinsCAAT (p.Thr987=) c.2996_2999delinsCAAT (p.Thr999=) | |
| 17 | g.31229954A= | CA2255566642 | NF1 | c.3015A= (p.Thr1005=) c.315A= (p.Thr105=) c.3000A= (p.Thr1000=) c.2970A= (p.Thr990=) c.1968A= (p.Thr656=) n.1506A= c.2745A= c.3072A= (p.Thr1024=) c.2961A= (p.Thr987=) c.2997A= (p.Thr999=) | |
| 17 | g.31229954A>C | CA499230016 | NF1 | c.3015A>C (p.Thr1005=) c.315A>C (p.Thr105=) c.3000A>C (p.Thr1000=) c.2970A>C (p.Thr990=) c.1968A>C (p.Thr656=) n.1506A>C c.2745A>C c.3072A>C (p.Thr1024=) c.2961A>C (p.Thr987=) c.2997A>C (p.Thr999=) | |
| 17 | g.31229954A>G | CA499230017 | NF1 | c.3015A>G (p.Thr1005=) c.315A>G (p.Thr105=) c.3000A>G (p.Thr1000=) c.2970A>G (p.Thr990=) c.1968A>G (p.Thr656=) n.1506A>G c.2745A>G c.3072A>G (p.Thr1024=) c.2961A>G (p.Thr987=) c.2997A>G (p.Thr999=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.31229954A>T | CA499230018 | NF1 | c.3015A>T (p.Thr1005=) c.315A>T (p.Thr105=) c.3000A>T (p.Thr1000=) c.2970A>T (p.Thr990=) c.1968A>T (p.Thr656=) n.1506A>T c.2745A>T c.3072A>T (p.Thr1024=) c.2961A>T (p.Thr987=) c.2997A>T (p.Thr999=) | dbSNP |
| 17 | g.31229954_31229955del | CA658761045 | NF1 | c.3015_3016del (p.Met1006AspfsTer29) c.315_316del (p.Met106AspfsTer29) c.3000_3001del (p.Met1001AspfsTer29) c.2970_2971del (p.Met991AspfsTer29) c.1968_1969del (p.Met657AspfsTer29) n.1506_1507del c.2745_2746del c.3072_3073del (p.Met1025AspfsTer29) c.2961_2962del (p.Met988AspfsTer29) c.2997_2998del (p.Met1000AspfsTer29) | ClinVar dbSNP |
| 17 | g.31229955dup | CA2733616405 | NF1 | c.3016dup (p.Met1006AsnfsTer30) c.316dup (p.Met106AsnfsTer30) c.3001dup (p.Met1001AsnfsTer30) c.2971dup (p.Met991AsnfsTer30) c.1969dup (p.Met657AsnfsTer30) n.1507dup c.2746dup c.3073dup (p.Met1025AsnfsTer30) c.2962dup (p.Met988AsnfsTer30) c.2998dup (p.Met1000AsnfsTer30) | dbSNP |
| 17 | g.31229955del | CA499230019 | NF1 | c.3016del (p.Met1006Ter) c.316del (p.Met106Ter) c.3001del (p.Met1001Ter) c.2971del (p.Met991Ter) c.1969del (p.Met657Ter) n.1507del c.2746del c.3073del (p.Met1025Ter) c.2962del (p.Met988Ter) c.2998del (p.Met1000Ter) | COSMIC |
| 17 | g.31229954_31229956del | CA114186 | NF1 | c.3015_3017del (p.Met1006del) c.315_317del (p.Met106del) c.3000_3002del (p.Met1001del) c.2970_2972del (p.Met991del) c.1968_1970del (p.Met657del) n.1506_1508del c.2745_2747del c.3072_3074del (p.Met1025del) c.2961_2963del (p.Met988del) c.2997_2999del (p.Met1000del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.31229955A= | CA2255566645 | NF1 | c.3016A= (p.Met1006=) c.316A= (p.Met106=) c.3001A= (p.Met1001=) c.2971A= (p.Met991=) c.1969A= (p.Met657=) n.1507A= c.2746A= c.3073A= (p.Met1025=) c.2962A= (p.Met988=) c.2998A= (p.Met1000=) | |
| 17 | g.31229955A>C | CA398986383 | NF1 | c.3016A>C (p.Met1006Leu) c.316A>C (p.Met106Leu) c.3001A>C (p.Met1001Leu) c.2971A>C (p.Met991Leu) c.1969A>C (p.Met657Leu) n.1507A>C c.2746A>C c.3073A>C (p.Met1025Leu) c.2962A>C (p.Met988Leu) c.2998A>C (p.Met1000Leu) | |
| 17 | g.31229955A>G | CA398986384 | NF1 | c.3016A>G (p.Met1006Val) c.316A>G (p.Met106Val) c.3001A>G (p.Met1001Val) c.2971A>G (p.Met991Val) c.1969A>G (p.Met657Val) n.1507A>G c.2746A>G c.3073A>G (p.Met1025Val) c.2962A>G (p.Met988Val) c.2998A>G (p.Met1000Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.31229955A>T | CA398986385 | NF1 | c.3016A>T (p.Met1006Leu) c.316A>T (p.Met106Leu) c.3001A>T (p.Met1001Leu) c.2971A>T (p.Met991Leu) c.1969A>T (p.Met657Leu) n.1507A>T c.2746A>T c.3073A>T (p.Met1025Leu) c.2962A>T (p.Met988Leu) c.2998A>T (p.Met1000Leu) | dbSNP |
| 17 | g.31229958_31229960del | CA2576222862 | NF1 | c.3019_3021del (p.Met1007del) c.319_321del (p.Met107del) c.3004_3006del (p.Met1002del) c.2974_2976del (p.Met992del) c.1972_1974del (p.Met658del) n.1510_1512del c.2749_2751del c.3076_3078del (p.Met1026del) c.2965_2967del (p.Met989del) c.3001_3003del (p.Met1001del) | |
| 17 | g.31229956T>A | CA398986387 | NF1 | c.3017T>A (p.Met1006Lys) c.317T>A (p.Met106Lys) c.3002T>A (p.Met1001Lys) c.2972T>A (p.Met991Lys) c.1970T>A (p.Met657Lys) n.1508T>A c.2747T>A c.3074T>A (p.Met1025Lys) c.2963T>A (p.Met988Lys) c.2999T>A (p.Met1000Lys) | dbSNP COSMIC |
| 17 | g.31229956T>C | CA16615184 | NF1 | c.3017T>C (p.Met1006Thr) c.317T>C (p.Met106Thr) c.3002T>C (p.Met1001Thr) c.2972T>C (p.Met991Thr) c.1970T>C (p.Met657Thr) n.1508T>C c.2747T>C c.3074T>C (p.Met1025Thr) c.2963T>C (p.Met988Thr) c.2999T>C (p.Met1000Thr) | ClinVar dbSNP |
| 17 | g.31229956T>G | CA398986390 | NF1 | c.3017T>G (p.Met1006Arg) c.317T>G (p.Met106Arg) c.3002T>G (p.Met1001Arg) c.2972T>G (p.Met991Arg) c.1970T>G (p.Met657Arg) n.1508T>G c.2747T>G c.3074T>G (p.Met1025Arg) c.2963T>G (p.Met988Arg) c.2999T>G (p.Met1000Arg) | ClinVar dbSNP |
| 17 | g.31229956T= | CA2255566647 | NF1 | c.3017T= (p.Met1006=) c.317T= (p.Met106=) c.3002T= (p.Met1001=) c.2972T= (p.Met991=) c.1970T= (p.Met657=) n.1508T= c.2747T= c.3074T= (p.Met1025=) c.2963T= (p.Met988=) c.2999T= (p.Met1000=) | |
| 17 | g.31229956dup | CA2695224813 | NF1 | c.3017dup (p.Met1006IlefsTer30) c.317dup (p.Met106IlefsTer30) c.3002dup (p.Met1001IlefsTer30) c.2972dup (p.Met991IlefsTer30) c.1970dup (p.Met657IlefsTer30) n.1508dup c.2747dup c.3074dup (p.Met1025IlefsTer30) c.2963dup (p.Met988IlefsTer30) c.2999dup (p.Met1000IlefsTer30) | |
| 17 | g.31229957del | CA2695224814 | NF1 | c.3018del (p.Met1006IlefsTer3) c.318del (p.Met106IlefsTer3) c.3003del (p.Met1001IlefsTer3) c.2973del (p.Met991IlefsTer3) c.1971del (p.Met657IlefsTer3) n.1509del c.2748del c.3075del (p.Met1025IlefsTer3) c.2964del (p.Met988IlefsTer3) c.3000del (p.Met1000IlefsTer3) | |
| 17 | g.31229957G>A | CA398986391 | NF1 | c.3018G>A (p.Met1006Ile) c.318G>A (p.Met106Ile) c.3003G>A (p.Met1001Ile) c.2973G>A (p.Met991Ile) c.1971G>A (p.Met657Ile) n.1509G>A c.2748G>A c.3075G>A (p.Met1025Ile) c.2964G>A (p.Met988Ile) c.3000G>A (p.Met1000Ile) | dbSNP |
| 17 | g.31229957G>C | CA398986392 | NF1 | c.3018G>C (p.Met1006Ile) c.318G>C (p.Met106Ile) c.3003G>C (p.Met1001Ile) c.2973G>C (p.Met991Ile) c.1971G>C (p.Met657Ile) n.1509G>C c.2748G>C c.3075G>C (p.Met1025Ile) c.2964G>C (p.Met988Ile) c.3000G>C (p.Met1000Ile) | dbSNP |
| 17 | g.31229957G>T | CA398986394 | NF1 | c.3018G>T (p.Met1006Ile) c.318G>T (p.Met106Ile) c.3003G>T (p.Met1001Ile) c.2973G>T (p.Met991Ile) c.1971G>T (p.Met657Ile) n.1509G>T c.2748G>T c.3075G>T (p.Met1025Ile) c.2964G>T (p.Met988Ile) c.3000G>T (p.Met1000Ile) | ClinVar dbSNP |
| 17 | g.31229958A>C | CA398986396 | NF1 | c.3019A>C (p.Met1007Leu) c.319A>C (p.Met107Leu) c.3004A>C (p.Met1002Leu) c.2974A>C (p.Met992Leu) c.1972A>C (p.Met658Leu) n.1510A>C c.2749A>C c.3076A>C (p.Met1026Leu) c.2965A>C (p.Met989Leu) c.3001A>C (p.Met1001Leu) | |
| 17 | g.31229958A>G | CA398986397 | NF1 | c.3019A>G (p.Met1007Val) c.319A>G (p.Met107Val) c.3004A>G (p.Met1002Val) c.2974A>G (p.Met992Val) c.1972A>G (p.Met658Val) n.1510A>G c.2749A>G c.3076A>G (p.Met1026Val) c.2965A>G (p.Met989Val) c.3001A>G (p.Met1001Val) | dbSNP |
| 17 | g.31229958A>T | CA398986398 | NF1 | c.3019A>T (p.Met1007Leu) c.319A>T (p.Met107Leu) c.3004A>T (p.Met1002Leu) c.2974A>T (p.Met992Leu) c.1972A>T (p.Met658Leu) n.1510A>T c.2749A>T c.3076A>T (p.Met1026Leu) c.2965A>T (p.Met989Leu) c.3001A>T (p.Met1001Leu) | dbSNP gnomAD v4 |
| 17 | g.31229959T>A | CA398986404 | NF1 | c.3020T>A (p.Met1007Lys) c.320T>A (p.Met107Lys) c.3005T>A (p.Met1002Lys) c.2975T>A (p.Met992Lys) c.1973T>A (p.Met658Lys) n.1511T>A c.2750T>A c.3077T>A (p.Met1026Lys) c.2966T>A (p.Met989Lys) c.3002T>A (p.Met1001Lys) | ClinVar dbSNP |
| 17 | g.31229959T>C | CA398986402 | NF1 | c.3020T>C (p.Met1007Thr) c.320T>C (p.Met107Thr) c.3005T>C (p.Met1002Thr) c.2975T>C (p.Met992Thr) c.1973T>C (p.Met658Thr) n.1511T>C c.2750T>C c.3077T>C (p.Met1026Thr) c.2966T>C (p.Met989Thr) c.3002T>C (p.Met1001Thr) | ClinVar dbSNP |
| 17 | g.31229959T>G | CA398986400 | NF1 | c.3020T>G (p.Met1007Arg) c.320T>G (p.Met107Arg) c.3005T>G (p.Met1002Arg) c.2975T>G (p.Met992Arg) c.1973T>G (p.Met658Arg) n.1511T>G c.2750T>G c.3077T>G (p.Met1026Arg) c.2966T>G (p.Met989Arg) c.3002T>G (p.Met1001Arg) | ClinVar dbSNP |
| 17 | g.31229959T= | CA2255566650 | NF1 | c.3020T= (p.Met1007=) c.320T= (p.Met107=) c.3005T= (p.Met1002=) c.2975T= (p.Met992=) c.1973T= (p.Met658=) n.1511T= c.2750T= c.3077T= (p.Met1026=) c.2966T= (p.Met989=) c.3002T= (p.Met1001=) | |
| 17 | g.31229960G>A | CA398986405 | NF1 | c.3021G>A (p.Met1007Ile) c.321G>A (p.Met107Ile) c.3006G>A (p.Met1002Ile) c.2976G>A (p.Met992Ile) c.1974G>A (p.Met658Ile) n.1512G>A c.2751G>A c.3078G>A (p.Met1026Ile) c.2967G>A (p.Met989Ile) c.3003G>A (p.Met1001Ile) | dbSNP gnomAD v2 |
| 17 | g.31229960G>C | CA398986406 | NF1 | c.3021G>C (p.Met1007Ile) c.321G>C (p.Met107Ile) c.3006G>C (p.Met1002Ile) c.2976G>C (p.Met992Ile) c.1974G>C (p.Met658Ile) n.1512G>C c.2751G>C c.3078G>C (p.Met1026Ile) c.2967G>C (p.Met989Ile) c.3003G>C (p.Met1001Ile) | dbSNP |
| 17 | g.31229960G= | CA2255566651 | NF1 | c.3021G= (p.Met1007=) c.321G= (p.Met107=) c.3006G= (p.Met1002=) c.2976G= (p.Met992=) c.1974G= (p.Met658=) n.1512G= c.2751G= c.3078G= (p.Met1026=) c.2967G= (p.Met989=) c.3003G= (p.Met1001=) | |
| 17 | g.31229960G>T | CA398986408 | NF1 | c.3021G>T (p.Met1007Ile) c.321G>T (p.Met107Ile) c.3006G>T (p.Met1002Ile) c.2976G>T (p.Met992Ile) c.1974G>T (p.Met658Ile) n.1512G>T c.2751G>T c.3078G>T (p.Met1026Ile) c.2967G>T (p.Met989Ile) c.3003G>T (p.Met1001Ile) | |
| 17 | g.31229961T>A | CA398986410 | NF1 | c.3022T>A (p.Leu1008Ile) c.322T>A (p.Leu108Ile) c.3007T>A (p.Leu1003Ile) c.2977T>A (p.Leu993Ile) c.1975T>A (p.Leu659Ile) n.1513T>A c.2752T>A c.3079T>A (p.Leu1027Ile) c.2968T>A (p.Leu990Ile) c.3004T>A (p.Leu1002Ile) | dbSNP |
| 17 | g.31229961T>C | CA499230043 | NF1 | c.3022T>C (p.Leu1008=) c.322T>C (p.Leu108=) c.3007T>C (p.Leu1003=) c.2977T>C (p.Leu993=) c.1975T>C (p.Leu659=) n.1513T>C c.2752T>C c.3079T>C (p.Leu1027=) c.2968T>C (p.Leu990=) c.3004T>C (p.Leu1002=) | ClinVar dbSNP |
| 17 | g.31229961T>G | CA398986412 | NF1 | c.3022T>G (p.Leu1008Val) c.322T>G (p.Leu108Val) c.3007T>G (p.Leu1003Val) c.2977T>G (p.Leu993Val) c.1975T>G (p.Leu659Val) n.1513T>G c.2752T>G c.3079T>G (p.Leu1027Val) c.2968T>G (p.Leu990Val) c.3004T>G (p.Leu1002Val) | dbSNP |
| 17 | g.31229961T= | CA2255566652 | NF1 | c.3022T= (p.Leu1008=) c.322T= (p.Leu108=) c.3007T= (p.Leu1003=) c.2977T= (p.Leu993=) c.1975T= (p.Leu659=) n.1513T= c.2752T= c.3079T= (p.Leu1027=) c.2968T= (p.Leu990=) c.3004T= (p.Leu1002=) | |
| 17 | g.31229962T>A | CA398986414 | NF1 | c.3023T>A (p.Leu1008Ter) c.323T>A (p.Leu108Ter) c.3008T>A (p.Leu1003Ter) c.2978T>A (p.Leu993Ter) c.1976T>A (p.Leu659Ter) n.1514T>A c.2753T>A c.3080T>A (p.Leu1027Ter) c.2969T>A (p.Leu990Ter) c.3005T>A (p.Leu1002Ter) | ClinVar dbSNP |
| 17 | g.31229962T>C | CA398986415 | NF1 | c.3023T>C (p.Leu1008Ser) c.323T>C (p.Leu108Ser) c.3008T>C (p.Leu1003Ser) c.2978T>C (p.Leu993Ser) c.1976T>C (p.Leu659Ser) n.1514T>C c.2753T>C c.3080T>C (p.Leu1027Ser) c.2969T>C (p.Leu990Ser) c.3005T>C (p.Leu1002Ser) | |
| 17 | g.31229962T>G | CA398986416 | NF1 | c.3023T>G (p.Leu1008Ter) c.323T>G (p.Leu108Ter) c.3008T>G (p.Leu1003Ter) c.2978T>G (p.Leu993Ter) c.1976T>G (p.Leu659Ter) n.1514T>G c.2753T>G c.3080T>G (p.Leu1027Ter) c.2969T>G (p.Leu990Ter) c.3005T>G (p.Leu1002Ter) | ClinVar dbSNP |
| 17 | g.31229962T= | CA2255566654 | NF1 | c.3023T= (p.Leu1008=) c.323T= (p.Leu108=) c.3008T= (p.Leu1003=) c.2978T= (p.Leu993=) c.1976T= (p.Leu659=) n.1514T= c.2753T= c.3080T= (p.Leu1027=) c.2969T= (p.Leu990=) c.3005T= (p.Leu1002=) | |
| 17 | g.31229963A>C | CA398986418 | NF1 | c.3024A>C (p.Leu1008Phe) c.324A>C (p.Leu108Phe) c.3009A>C (p.Leu1003Phe) c.2979A>C (p.Leu993Phe) c.1977A>C (p.Leu659Phe) n.1515A>C c.2754A>C c.3081A>C (p.Leu1027Phe) c.2970A>C (p.Leu990Phe) c.3006A>C (p.Leu1002Phe) | |
| 17 | g.31229963A>G | CA499230051 | NF1 | c.3024A>G (p.Leu1008=) c.324A>G (p.Leu108=) c.3009A>G (p.Leu1003=) c.2979A>G (p.Leu993=) c.1977A>G (p.Leu659=) n.1515A>G c.2754A>G c.3081A>G (p.Leu1027=) c.2970A>G (p.Leu990=) c.3006A>G (p.Leu1002=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.31229963A>T | CA398986419 | NF1 | c.3024A>T (p.Leu1008Phe) c.324A>T (p.Leu108Phe) c.3009A>T (p.Leu1003Phe) c.2979A>T (p.Leu993Phe) c.1977A>T (p.Leu659Phe) n.1515A>T c.2754A>T c.3081A>T (p.Leu1027Phe) c.2970A>T (p.Leu990Phe) c.3006A>T (p.Leu1002Phe) | dbSNP |
| 17 | g.31229964_31229965del | CA2733616414 | NF1 | c.3025_3026del (p.Asn1009SerfsTer26) c.325_326del (p.Asn109SerfsTer26) c.3010_3011del (p.Asn1004SerfsTer26) c.2980_2981del (p.Asn994SerfsTer26) c.1978_1979del (p.Asn660SerfsTer26) n.1516_1517del c.2755_2756del c.3082_3083del (p.Asn1028SerfsTer26) c.2971_2972del (p.Asn991SerfsTer26) c.3007_3008del (p.Asn1003SerfsTer26) | dbSNP |