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 |
|---|---|---|---|---|---|
| 12 | g.101753472_101753473del | CA223755 | GNPTAB | c.3503_3504del (p.Leu1168GlnfsTer5) c.401_402del (n.401_402del) c.3422_3423del (p.Leu1141GlnfsTer5) c.3287_3288del (p.Leu1096GlnfsTer5) c.2276_2277del (p.Leu759GlnfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101753472G>A | CA386292543 | GNPTAB | c.3502C>T (p.Leu1168Phe) c.400C>T (n.400C>T) c.3421C>T (p.Leu1141Phe) c.3286C>T (p.Leu1096Phe) c.2275C>T (p.Leu759Phe) | gnomAD v4 |
| 12 | g.101753472G>C | CA386292546 | GNPTAB | c.3502C>G (p.Leu1168Val) c.400C>G (n.400C>G) c.3421C>G (p.Leu1141Val) c.3286C>G (p.Leu1096Val) c.2275C>G (p.Leu759Val) | |
| 12 | g.101753472G>T | CA386292548 | GNPTAB | c.3502C>A (p.Leu1168Ile) c.400C>A (n.400C>A) c.3421C>A (p.Leu1141Ile) c.3286C>A (p.Leu1096Ile) c.2275C>A (p.Leu759Ile) | |
| 12 | g.101753473A>C | CA481317669 | GNPTAB | c.3501T>G (p.Val1167=) c.399T>G (n.399T>G) c.3420T>G (p.Val1140=) c.3285T>G (p.Val1095=) c.2274T>G (p.Val758=) | gnomAD v4 |
| 12 | g.101753473A>G | CA481317667 | GNPTAB | c.3501T>C (p.Val1167=) c.399T>C (n.399T>C) c.3420T>C (p.Val1140=) c.3285T>C (p.Val1095=) c.2274T>C (p.Val758=) | ClinVar dbSNP |
| 12 | g.101753473A>T | CA481317668 | GNPTAB | c.3501T>A (p.Val1167=) c.399T>A (n.399T>A) c.3420T>A (p.Val1140=) c.3285T>A (p.Val1095=) c.2274T>A (p.Val758=) | |
| 12 | g.101753474A>C | CA386292550 | GNPTAB | c.3500T>G (p.Val1167Gly) c.398T>G (n.398T>G) c.3419T>G (p.Val1140Gly) c.3284T>G (p.Val1095Gly) c.2273T>G (p.Val758Gly) | |
| 12 | g.101753474A>G | CA386292553 | GNPTAB | c.3500T>C (p.Val1167Ala) c.398T>C (n.398T>C) c.3419T>C (p.Val1140Ala) c.3284T>C (p.Val1095Ala) c.2273T>C (p.Val758Ala) | |
| 12 | g.101753474A>T | CA386292555 | GNPTAB | c.3500T>A (p.Val1167Asp) c.398T>A (n.398T>A) c.3419T>A (p.Val1140Asp) c.3284T>A (p.Val1095Asp) c.2273T>A (p.Val758Asp) | |
| 12 | g.101753475C>A | CA386292558 | GNPTAB | c.3499G>T (p.Val1167Phe) c.397G>T (n.397G>T) c.3418G>T (p.Val1140Phe) c.3283G>T (p.Val1095Phe) c.2272G>T (p.Val758Phe) | |
| 12 | g.101753475C= | CA2058950579 | GNPTAB | c.3499G= (p.Val1167=) c.397G= (n.397G=) c.3418G= (p.Val1140=) c.3283G= (p.Val1095=) c.2272G= (p.Val758=) | |
| 12 | g.101753475C>G | CA386292560 | GNPTAB | c.3499G>C (p.Val1167Leu) c.397G>C (n.397G>C) c.3418G>C (p.Val1140Leu) c.3283G>C (p.Val1095Leu) c.2272G>C (p.Val758Leu) | |
| 12 | g.101753475C>T | CA386292562 | GNPTAB | c.3499G>A (p.Val1167Ile) c.397G>A (n.397G>A) c.3418G>A (p.Val1140Ile) c.3283G>A (p.Val1095Ile) c.2272G>A (p.Val758Ile) | gnomAD v4 |
| 12 | g.101753476A>C | CA481317672 | GNPTAB | c.3498T>G (p.Ala1166=) c.396T>G (n.396T>G) c.3417T>G (p.Ala1139=) c.3282T>G (p.Ala1094=) c.2271T>G (p.Ala757=) | |
| 12 | g.101753476A>G | CA481317673 | GNPTAB | c.3498T>C (p.Ala1166=) c.396T>C (n.396T>C) c.3417T>C (p.Ala1139=) c.3282T>C (p.Ala1094=) c.2271T>C (p.Ala757=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101753476A>T | CA481317674 | GNPTAB | c.3498T>A (p.Ala1166=) c.396T>A (n.396T>A) c.3417T>A (p.Ala1139=) c.3282T>A (p.Ala1094=) c.2271T>A (p.Ala757=) | |
| 12 | g.101753476_101753477insTCTTTATGA | CA915946675 | GNPTAB | c.3498_3499insCATAAAGAT (p.Ala1166_Val1167insHisLysAsp) c.396_397insCATAAAGAT (n.396_397insCATAAAGAT) c.3417_3418insCATAAAGAT (p.Ala1139_Val1140insHisLysAsp) c.3282_3283insCATAAAGAT (p.Ala1094_Val1095insHisLysAsp) c.2271_2272insCATAAAGAT (p.Ala757_Val758insHisLysAsp) | ClinVar dbSNP |
| 12 | g.101753477G>A | CA386292569 | GNPTAB | c.3497C>T (p.Ala1166Val) c.395C>T (n.395C>T) c.3416C>T (p.Ala1139Val) c.3281C>T (p.Ala1094Val) c.2270C>T (p.Ala757Val) | |
| 12 | g.101753477G>C | CA386292568 | GNPTAB | c.3497C>G (p.Ala1166Gly) c.395C>G (n.395C>G) c.3416C>G (p.Ala1139Gly) c.3281C>G (p.Ala1094Gly) c.2270C>G (p.Ala757Gly) | |
| 12 | g.101753477G>T | CA386292565 | GNPTAB | c.3497C>A (p.Ala1166Asp) c.395C>A (n.395C>A) c.3416C>A (p.Ala1139Asp) c.3281C>A (p.Ala1094Asp) c.2270C>A (p.Ala757Asp) | |
| 12 | g.101753478C>A | CA386292572 | GNPTAB | c.3496G>T (p.Ala1166Ser) c.394G>T (n.394G>T) c.3415G>T (p.Ala1139Ser) c.3280G>T (p.Ala1094Ser) c.2269G>T (p.Ala757Ser) | |
| 12 | g.101753478C= | CA2058950580 | GNPTAB | c.3496G= (p.Ala1166=) c.394G= (n.394G=) c.3415G= (p.Ala1139=) c.3280G= (p.Ala1094=) c.2269G= (p.Ala757=) | |
| 12 | g.101753478C>G | CA6746135 | GNPTAB | c.3496G>C (p.Ala1166Pro) c.394G>C (n.394G>C) c.3415G>C (p.Ala1139Pro) c.3280G>C (p.Ala1094Pro) c.2269G>C (p.Ala757Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101753478C>T | CA386292574 | GNPTAB | c.3496G>A (p.Ala1166Thr) c.394G>A (n.394G>A) c.3415G>A (p.Ala1139Thr) c.3280G>A (p.Ala1094Thr) c.2269G>A (p.Ala757Thr) | |
| 12 | g.101753479C>A | CA386292577 | GNPTAB | c.3495G>T (p.Lys1165Asn) c.393G>T (n.393G>T) c.3414G>T (p.Lys1138Asn) c.3279G>T (p.Lys1093Asn) c.2268G>T (p.Lys756Asn) | |
| 12 | g.101753479C>G | CA386292579 | GNPTAB | c.3495G>C (p.Lys1165Asn) c.393G>C (n.393G>C) c.3414G>C (p.Lys1138Asn) c.3279G>C (p.Lys1093Asn) c.2268G>C (p.Lys756Asn) | |
| 12 | g.101753479C>T | CA481317677 | GNPTAB | c.3495G>A (p.Lys1165=) c.393G>A (n.393G>A) c.3414G>A (p.Lys1138=) c.3279G>A (p.Lys1093=) c.2268G>A (p.Lys756=) | gnomAD v4 |
| 12 | g.101753480T>A | CA386292581 | GNPTAB | c.3494A>T (p.Lys1165Met) c.392A>T (n.392A>T) c.3413A>T (p.Lys1138Met) c.3278A>T (p.Lys1093Met) c.2267A>T (p.Lys756Met) | |
| 12 | g.101753480T>C | CA386292584 | GNPTAB | c.3494A>G (p.Lys1165Arg) c.392A>G (n.392A>G) c.3413A>G (p.Lys1138Arg) c.3278A>G (p.Lys1093Arg) c.2267A>G (p.Lys756Arg) | gnomAD v4 |
| 12 | g.101753480T>G | CA386292585 | GNPTAB | c.3494A>C (p.Lys1165Thr) c.392A>C (n.392A>C) c.3413A>C (p.Lys1138Thr) c.3278A>C (p.Lys1093Thr) c.2267A>C (p.Lys756Thr) | |
| 12 | g.101753481T>A | CA386292588 | GNPTAB | c.3493A>T (p.Lys1165Ter) c.391A>T (n.391A>T) c.3412A>T (p.Lys1138Ter) c.3277A>T (p.Lys1093Ter) c.2266A>T (p.Lys756Ter) | |
| 12 | g.101753481T>C | CA386292589 | GNPTAB | c.3493A>G (p.Lys1165Glu) c.391A>G (n.391A>G) c.3412A>G (p.Lys1138Glu) c.3277A>G (p.Lys1093Glu) c.2266A>G (p.Lys756Glu) | |
| 12 | g.101753481T>G | CA386292590 | GNPTAB | c.3493A>C (p.Lys1165Gln) c.391A>C (n.391A>C) c.3412A>C (p.Lys1138Gln) c.3277A>C (p.Lys1093Gln) c.2266A>C (p.Lys756Gln) | |
| 12 | g.101753482C>A | CA481317683 | GNPTAB | c.3492G>T (p.Val1164=) c.390G>T (n.390G>T) c.3411G>T (p.Val1137=) c.3276G>T (p.Val1092=) c.2265G>T (p.Val755=) | |
| 12 | g.101753482C>G | CA481317684 | GNPTAB | c.3492G>C (p.Val1164=) c.390G>C (n.390G>C) c.3411G>C (p.Val1137=) c.3276G>C (p.Val1092=) c.2265G>C (p.Val755=) | |
| 12 | g.101753482C>T | CA481317685 | GNPTAB | c.3492G>A (p.Val1164=) c.390G>A (n.390G>A) c.3411G>A (p.Val1137=) c.3276G>A (p.Val1092=) c.2265G>A (p.Val755=) | |
| 12 | g.101753483A= | CA2058950581 | GNPTAB | c.3491T= (p.Val1164=) c.389T= (n.389T=) c.3410T= (p.Val1137=) c.3275T= (p.Val1092=) c.2264T= (p.Val755=) | |
| 12 | g.101753483A>C | CA386292592 | GNPTAB | c.3491T>G (p.Val1164Gly) c.389T>G (n.389T>G) c.3410T>G (p.Val1137Gly) c.3275T>G (p.Val1092Gly) c.2264T>G (p.Val755Gly) | |
| 12 | g.101753483A>G | CA386292594 | GNPTAB | c.3491T>C (p.Val1164Ala) c.389T>C (n.389T>C) c.3410T>C (p.Val1137Ala) c.3275T>C (p.Val1092Ala) c.2264T>C (p.Val755Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101753483A>T | CA386292596 | GNPTAB | c.3491T>A (p.Val1164Glu) c.389T>A (n.389T>A) c.3410T>A (p.Val1137Glu) c.3275T>A (p.Val1092Glu) c.2264T>A (p.Val755Glu) | |
| 12 | g.101753483_101753487delinsACTGT | CA2058950582 | GNPTAB | c.3487_3491delinsACAGT (p.Thr1163=) c.385_389delinsACAGT (n.385_389delinsACAGT) c.3406_3410delinsACAGT (p.Thr1136=) c.3271_3275delinsACAGT (p.Thr1091=) c.2260_2264delinsACAGT (p.Thr754=) | |
| 12 | g.101753484C>A | CA386292601 | GNPTAB | c.3490G>T (p.Val1164Leu) c.388G>T (n.388G>T) c.3409G>T (p.Val1137Leu) c.3274G>T (p.Val1092Leu) c.2263G>T (p.Val755Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101753484C= | CA2058950583 | GNPTAB | c.3490G= (p.Val1164=) c.388G= (n.388G=) c.3409G= (p.Val1137=) c.3274G= (p.Val1092=) c.2263G= (p.Val755=) | |
| 12 | g.101753484C>G | CA386292603 | GNPTAB | c.3490G>C (p.Val1164Leu) c.388G>C (n.388G>C) c.3409G>C (p.Val1137Leu) c.3274G>C (p.Val1092Leu) c.2263G>C (p.Val755Leu) | |
| 12 | g.101753484C>T | CA386292605 | GNPTAB | c.3490G>A (p.Val1164Met) c.388G>A (n.388G>A) c.3409G>A (p.Val1137Met) c.3274G>A (p.Val1092Met) c.2263G>A (p.Val755Met) | |
| 12 | g.101753487_101753490del | CA343403 | GNPTAB | c.3487_3490del (p.Thr1163Ter) c.385_388del (n.385_388del) c.3406_3409del (p.Thr1136Ter) c.3271_3274del (p.Thr1091Ter) c.2260_2263del (p.Thr754Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101753485T>A | CA481317695 | GNPTAB | c.3489A>T (p.Thr1163=) c.387A>T (n.387A>T) c.3408A>T (p.Thr1136=) c.3273A>T (p.Thr1091=) c.2262A>T (p.Thr754=) | gnomAD v4 |
| 12 | g.101753485T>C | CA481317697 | GNPTAB | c.3489A>G (p.Thr1163=) c.387A>G (n.387A>G) c.3408A>G (p.Thr1136=) c.3273A>G (p.Thr1091=) c.2262A>G (p.Thr754=) | ClinVar gnomAD v4 |
| 12 | g.101753485T>G | CA6746136 | GNPTAB | c.3489A>C (p.Thr1163=) c.387A>C (n.387A>C) c.3408A>C (p.Thr1136=) c.3273A>C (p.Thr1091=) c.2262A>C (p.Thr754=) | dbSNP ExAC gnomAD v2 |