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 |
|---|---|---|---|---|---|
| 18 | g.23538559del | CA915952522 | NPC1 | c.3027del (p.Lys1010SerfsTer?) c.2105del n.660del n.370del c.3078del (p.Lys1027SerfsTer?) c.2613del (p.Lys872SerfsTer?) | ClinVar dbSNP |
| 18 | g.23538558_23538559del | CA2580095495 | NPC1 | c.3026_3027del (p.Pro1009GlnfsTer11) c.2104_2105del n.659_660del n.369_370del c.3077_3078del (p.Pro1026GlnfsTer11) c.2612_2613del (p.Pro871GlnfsTer11) | ClinVar |
| 18 | g.23538558G>A | CA401792108 | NPC1 | c.3025C>T (p.Pro1009Ser) c.2103C>T n.658C>T n.368C>T c.3076C>T (p.Pro1026Ser) c.2611C>T (p.Pro871Ser) | gnomAD v4 |
| 18 | g.23538558G>C | CA401792109 | NPC1 | c.3025C>G (p.Pro1009Ala) c.2103C>G n.658C>G n.368C>G c.3076C>G (p.Pro1026Ala) c.2611C>G (p.Pro871Ala) | |
| 18 | g.23538558G>T | CA401792110 | NPC1 | c.3025C>A (p.Pro1009Thr) c.2103C>A n.658C>A n.368C>A c.3076C>A (p.Pro1026Thr) c.2611C>A (p.Pro871Thr) | |
| 18 | g.23538558_23538559insTTAG | CA777718519 | NPC1 | c.3025_3026insTAAC (p.Pro1009LeufsTer13) c.2103_2104insTAAC n.658_659insTAAC n.368_369insTAAC c.3076_3077insTAAC (p.Pro1026LeufsTer13) c.2611_2612insTAAC (p.Pro871LeufsTer13) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23538560_23538577del | CA2576470471 | NPC1 | c.3008_3025del (p.Leu1003_Asn1008del) c.2086_2103del n.641_658del n.351_368del c.3059_3076del (p.Leu1020_Asn1025del) c.2594_2611del (p.Leu865_Asn870del) | |
| 18 | g.23538559G>A | CA503322454 | NPC1 | c.3024C>T (p.Asn1008=) c.2102C>T n.657C>T n.367C>T c.3075C>T (p.Asn1025=) c.2610C>T (p.Asn870=) | ClinVar dbSNP |
| 18 | g.23538559G>C | CA401792111 | NPC1 | c.3024C>G (p.Asn1008Lys) c.2102C>G n.657C>G n.367C>G c.3075C>G (p.Asn1025Lys) c.2610C>G (p.Asn870Lys) | |
| 18 | g.23538559G>T | CA401792112 | NPC1 | c.3024C>A (p.Asn1008Lys) c.2102C>A n.657C>A n.367C>A c.3075C>A (p.Asn1025Lys) c.2610C>A (p.Asn870Lys) | |
| 18 | g.23538560T>A | CA401792113 | NPC1 | c.3023A>T (p.Asn1008Ile) c.2101A>T n.656A>T n.366A>T c.3074A>T (p.Asn1025Ile) c.2609A>T (p.Asn870Ile) | |
| 18 | g.23538560T>C | CA401792115 | NPC1 | c.3023A>G (p.Asn1008Ser) c.2101A>G n.656A>G n.366A>G c.3074A>G (p.Asn1025Ser) c.2609A>G (p.Asn870Ser) | |
| 18 | g.23538560T>G | CA401792114 | NPC1 | c.3023A>C (p.Asn1008Thr) c.2101A>C n.656A>C n.366A>C c.3074A>C (p.Asn1025Thr) c.2609A>C (p.Asn870Thr) | dbSNP |
| 18 | g.23538560T= | CA2290165350 | NPC1 | c.3023A= (p.Asn1008=) c.2101A= n.656A= n.366A= c.3074A= (p.Asn1025=) c.2609A= (p.Asn870=) | |
| 18 | g.23538561T>A | CA401792116 | NPC1 | c.3022A>T (p.Asn1008Tyr) c.2100A>T n.655A>T n.365A>T c.3073A>T (p.Asn1025Tyr) c.2608A>T (p.Asn870Tyr) | |
| 18 | g.23538561T>C | CA401792117 | NPC1 | c.3022A>G (p.Asn1008Asp) c.2100A>G n.655A>G n.365A>G c.3073A>G (p.Asn1025Asp) c.2608A>G (p.Asn870Asp) | |
| 18 | g.23538561T>G | CA401792118 | NPC1 | c.3022A>C (p.Asn1008His) c.2100A>C n.655A>C n.365A>C c.3073A>C (p.Asn1025His) c.2608A>C (p.Asn870His) | gnomAD v4 |
| 18 | g.23538562A>C | CA503322455 | NPC1 | c.3021T>G (p.Pro1007=) c.2099T>G n.654T>G n.364T>G c.3072T>G (p.Pro1024=) c.2607T>G (p.Pro869=) | |
| 18 | g.23538562A>G | CA503322456 | NPC1 | c.3021T>C (p.Pro1007=) c.2099T>C n.654T>C n.364T>C c.3072T>C (p.Pro1024=) c.2607T>C (p.Pro869=) | gnomAD v4 |
| 18 | g.23538562A>T | CA503322457 | NPC1 | c.3021T>A (p.Pro1007=) c.2099T>A n.654T>A n.364T>A c.3072T>A (p.Pro1024=) c.2607T>A (p.Pro869=) | |
| 18 | g.23538563G>A | CA8912895 | NPC1 | c.3020C>T (p.Pro1007Leu) c.2098C>T n.653C>T n.363C>T c.3071C>T (p.Pro1024Leu) c.2606C>T (p.Pro869Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23538563G>C | CA401792119 | NPC1 | c.3020C>G (p.Pro1007Arg) c.2098C>G n.653C>G n.363C>G c.3071C>G (p.Pro1024Arg) c.2606C>G (p.Pro869Arg) | |
| 18 | g.23538563G= | CA2290165351 | NPC1 | c.3020C= (p.Pro1007=) c.2098C= n.653C= n.363C= c.3071C= (p.Pro1024=) c.2606C= (p.Pro869=) | |
| 18 | g.23538563G>T | CA401792120 | NPC1 | c.3020C>A (p.Pro1007His) c.2098C>A n.653C>A n.363C>A c.3071C>A (p.Pro1024His) c.2606C>A (p.Pro869His) | |
| 18 | g.23538564G>A | CA401792121 | NPC1 | c.3019C>T (p.Pro1007Ser) c.2097C>T n.652C>T n.362C>T c.3070C>T (p.Pro1024Ser) c.2605C>T (p.Pro869Ser) | |
| 18 | g.23538564G>C | CA340032 | NPC1 | c.3019C>G (p.Pro1007Ala) c.2097C>G n.652C>G n.362C>G c.3070C>G (p.Pro1024Ala) c.2605C>G (p.Pro869Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23538564G= | CA2290165352 | NPC1 | c.3019C= (p.Pro1007=) c.2097C= n.652C= n.362C= c.3070C= (p.Pro1024=) c.2605C= (p.Pro869=) | |
| 18 | g.23538564G>T | CA401792122 | NPC1 | c.3019C>A (p.Pro1007Thr) c.2097C>A n.652C>A n.362C>A c.3070C>A (p.Pro1024Thr) c.2605C>A (p.Pro869Thr) | |
| 18 | g.23538565G>A | CA503322458 | NPC1 | c.3018C>T (p.Asn1006=) c.2096C>T n.651C>T n.361C>T c.3069C>T (p.Asn1023=) c.2604C>T (p.Asn868=) | |
| 18 | g.23538565G>C | CA401792123 | NPC1 | c.3018C>G (p.Asn1006Lys) c.2096C>G n.651C>G n.361C>G c.3069C>G (p.Asn1023Lys) c.2604C>G (p.Asn868Lys) | |
| 18 | g.23538565G>T | CA401792124 | NPC1 | c.3018C>A (p.Asn1006Lys) c.2096C>A n.651C>A n.361C>A c.3069C>A (p.Asn1023Lys) c.2604C>A (p.Asn868Lys) | |
| 18 | g.23538566T>A | CA401792126 | NPC1 | c.3017A>T (p.Asn1006Ile) c.2095A>T n.650A>T n.360A>T c.3068A>T (p.Asn1023Ile) c.2603A>T (p.Asn868Ile) | gnomAD v4 |
| 18 | g.23538566T>C | CA401792127 | NPC1 | c.3017A>G (p.Asn1006Ser) c.2095A>G n.650A>G n.360A>G c.3068A>G (p.Asn1023Ser) c.2603A>G (p.Asn868Ser) | |
| 18 | g.23538566T>G | CA401792125 | NPC1 | c.3017A>C (p.Asn1006Thr) c.2095A>C n.650A>C n.360A>C c.3068A>C (p.Asn1023Thr) c.2603A>C (p.Asn868Thr) | dbSNP |
| 18 | g.23538566T= | CA2290165353 | NPC1 | c.3017A= (p.Asn1006=) c.2095A= n.650A= n.360A= c.3068A= (p.Asn1023=) c.2603A= (p.Asn868=) | |
| 18 | g.23538567del | CA2580095497 | NPC1 | c.3017del (p.Asn1006ThrfsTer?) c.2095del n.650del n.360del c.3068del (p.Asn1023ThrfsTer?) c.2603del (p.Asn868ThrfsTer?) | ClinVar |
| 18 | g.23538567T>A | CA401792128 | NPC1 | c.3016A>T (p.Asn1006Tyr) c.2094A>T n.649A>T n.359A>T c.3067A>T (p.Asn1023Tyr) c.2602A>T (p.Asn868Tyr) | |
| 18 | g.23538567T>C | CA401792130 | NPC1 | c.3016A>G (p.Asn1006Asp) c.2094A>G n.649A>G n.359A>G c.3067A>G (p.Asn1023Asp) c.2602A>G (p.Asn868Asp) | gnomAD v4 |
| 18 | g.23538567T>G | CA401792129 | NPC1 | c.3016A>C (p.Asn1006His) c.2094A>C n.649A>C n.359A>C c.3067A>C (p.Asn1023His) c.2602A>C (p.Asn868His) | |
| 18 | g.23538568A>C | CA401792131 | NPC1 | c.3015T>G (p.Asp1005Glu) c.2093T>G n.648T>G n.358T>G c.3066T>G (p.Asp1022Glu) c.2601T>G (p.Asp867Glu) | |
| 18 | g.23538568A>G | CA503322459 | NPC1 | c.3015T>C (p.Asp1005=) c.2093T>C n.648T>C n.358T>C c.3066T>C (p.Asp1022=) c.2601T>C (p.Asp867=) | |
| 18 | g.23538568A>T | CA401792132 | NPC1 | c.3015T>A (p.Asp1005Glu) c.2093T>A n.648T>A n.358T>A c.3066T>A (p.Asp1022Glu) c.2601T>A (p.Asp867Glu) | |
| 18 | g.23538569T>A | CA401792133 | NPC1 | c.3014A>T (p.Asp1005Val) c.2092A>T n.647A>T n.357A>T c.3065A>T (p.Asp1022Val) c.2600A>T (p.Asp867Val) | |
| 18 | g.23538569T>C | CA401792134 | NPC1 | c.3014A>G (p.Asp1005Gly) c.2092A>G n.647A>G n.357A>G c.3065A>G (p.Asp1022Gly) c.2600A>G (p.Asp867Gly) | |
| 18 | g.23538569T>G | CA401792135 | NPC1 | c.3014A>C (p.Asp1005Ala) c.2092A>C n.647A>C n.357A>C c.3065A>C (p.Asp1022Ala) c.2600A>C (p.Asp867Ala) | |
| 18 | g.23538570C>A | CA401792136 | NPC1 | c.3013G>T (p.Asp1005Tyr) c.2091G>T n.646G>T n.356G>T c.3064G>T (p.Asp1022Tyr) c.2599G>T (p.Asp867Tyr) | |
| 18 | g.23538570C>G | CA401792137 | NPC1 | c.3013G>C (p.Asp1005His) c.2091G>C n.646G>C n.356G>C c.3064G>C (p.Asp1022His) c.2599G>C (p.Asp867His) | |
| 18 | g.23538570C>T | CA401792138 | NPC1 | c.3013G>A (p.Asp1005Asn) c.2091G>A n.646G>A n.356G>A c.3064G>A (p.Asp1022Asn) c.2599G>A (p.Asp867Asn) | |
| 18 | g.23538571C>A | CA503322460 | NPC1 | c.3012G>T (p.Ser1004=) c.2090G>T n.645G>T n.355G>T c.3063G>T (p.Ser1021=) c.2598G>T (p.Ser866=) | |
| 18 | g.23538571C= | CA2290165354 | NPC1 | c.3012G= (p.Ser1004=) c.2090G= n.645G= n.355G= c.3063G= (p.Ser1021=) c.2598G= (p.Ser866=) |