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 |
|---|---|---|---|---|---|
| 3 | g.14141627C>A | CA351536410 | TMEM43 | c.*1065C>A (n.*1065C>A) c.1035C>A (p.Asn345Lys) n.327+2330C>A c.236+2330C>A c.930C>A (p.Asn310Lys) | |
| 3 | g.14141627C>G | CA351536411 | TMEM43 | c.*1065C>G (n.*1065C>G) c.1035C>G (p.Asn345Lys) n.327+2330C>G c.236+2330C>G c.930C>G (p.Asn310Lys) | gnomAD v4 |
| 3 | g.14141627C>T | CA432552875 | TMEM43 | c.*1065C>T (n.*1065C>T) c.1035C>T (p.Asn345=) n.327+2330C>T c.236+2330C>T c.930C>T (p.Asn310=) | |
| 3 | g.14141628A>C | CA351536412 | TMEM43 | c.*1066A>C (n.*1066A>C) c.1036A>C (p.Ile346Leu) n.327+2331A>C c.236+2331A>C c.931A>C (p.Ile311Leu) | |
| 3 | g.14141628A>G | CA351536413 | TMEM43 | c.*1066A>G (n.*1066A>G) c.1036A>G (p.Ile346Val) n.327+2331A>G c.236+2331A>G c.931A>G (p.Ile311Val) | ClinVar dbSNP |
| 3 | g.14141628A>T | CA351536414 | TMEM43 | c.*1066A>T (n.*1066A>T) c.1036A>T (p.Ile346Phe) n.327+2331A>T c.236+2331A>T c.931A>T (p.Ile311Phe) | |
| 3 | g.14141629T>A | CA351536416 | TMEM43 | c.*1067T>A (n.*1067T>A) c.1037T>A (p.Ile346Asn) n.327+2332T>A c.236+2332T>A c.932T>A (p.Ile311Asn) | |
| 3 | g.14141629T>C | CA351536417 | TMEM43 | c.*1067T>C (n.*1067T>C) c.1037T>C (p.Ile346Thr) n.327+2332T>C c.236+2332T>C c.932T>C (p.Ile311Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.14141629T>G | CA351536415 | TMEM43 | c.*1067T>G (n.*1067T>G) c.1037T>G (p.Ile346Ser) n.327+2332T>G c.236+2332T>G c.932T>G (p.Ile311Ser) | |
| 3 | g.14141629T= | CA1346973828 | TMEM43 | c.*1067T= (n.*1067T=) c.1037T= (p.Ile346=) n.327+2332T= c.236+2332T= c.932T= (p.Ile311=) | |
| 3 | g.14141630T>A | CA432552879 | TMEM43 | c.*1068T>A (n.*1068T>A) c.1038T>A (p.Ile346=) n.327+2333T>A c.236+2333T>A c.933T>A (p.Ile311=) | |
| 3 | g.14141630T>C | CA432552880 | TMEM43 | c.*1068T>C (n.*1068T>C) c.1038T>C (p.Ile346=) n.327+2333T>C c.236+2333T>C c.933T>C (p.Ile311=) | ClinVar dbSNP |
| 3 | g.14141630T>G | CA351536418 | TMEM43 | c.*1068T>G (n.*1068T>G) c.1038T>G (p.Ile346Met) n.327+2333T>G c.236+2333T>G c.933T>G (p.Ile311Met) | |
| 3 | g.14141630T= | CA1346973829 | TMEM43 | c.*1068T= (n.*1068T=) c.1038T= (p.Ile346=) n.327+2333T= c.236+2333T= c.933T= (p.Ile311=) | |
| 3 | g.14141631G>A | CA351536419 | TMEM43 | c.*1069G>A (n.*1069G>A) c.1039G>A (p.Gly347Ser) n.327+2334G>A c.236+2334G>A c.934G>A (p.Gly312Ser) | gnomAD v4 |
| 3 | g.14141631G>C | CA351536420 | TMEM43 | c.*1069G>C (n.*1069G>C) c.1039G>C (p.Gly347Arg) n.327+2334G>C c.236+2334G>C c.934G>C (p.Gly312Arg) | |
| 3 | g.14141631G= | CA1346973830 | TMEM43 | c.*1069G= (n.*1069G=) c.1039G= (p.Gly347=) n.327+2334G= c.236+2334G= c.934G= (p.Gly312=) | |
| 3 | g.14141631G>T | CA051047 | TMEM43 | c.*1069G>T (n.*1069G>T) c.1039G>T (p.Gly347Cys) n.327+2334G>T c.236+2334G>T c.934G>T (p.Gly312Cys) | dbSNP ExAC gnomAD v2 |
| 3 | g.14141632G>A | CA351536421 | TMEM43 | c.*1070G>A (n.*1070G>A) c.1040G>A (p.Gly347Asp) n.327+2335G>A c.236+2335G>A c.935G>A (p.Gly312Asp) | |
| 3 | g.14141632G>C | CA351536422 | TMEM43 | c.*1070G>C (n.*1070G>C) c.1040G>C (p.Gly347Ala) n.327+2335G>C c.236+2335G>C c.935G>C (p.Gly312Ala) | |
| 3 | g.14141632G>T | CA351536423 | TMEM43 | c.*1070G>T (n.*1070G>T) c.1040G>T (p.Gly347Val) n.327+2335G>T c.236+2335G>T c.935G>T (p.Gly312Val) | |
| 3 | g.14141633C>A | CA432552886 | TMEM43 | c.*1071C>A (n.*1071C>A) c.1041C>A (p.Gly347=) n.327+2336C>A c.236+2336C>A c.936C>A (p.Gly312=) | |
| 3 | g.14141633C= | CA1346973831 | TMEM43 | c.*1071C= (n.*1071C=) c.1041C= (p.Gly347=) n.327+2336C= c.236+2336C= c.936C= (p.Gly312=) | |
| 3 | g.14141633C>G | CA432552884 | TMEM43 | c.*1071C>G (n.*1071C>G) c.1041C>G (p.Gly347=) n.327+2336C>G c.236+2336C>G c.936C>G (p.Gly312=) | |
| 3 | g.14141633C>T | CA432552885 | TMEM43 | c.*1071C>T (n.*1071C>T) c.1041C>T (p.Gly347=) n.327+2336C>T c.236+2336C>T c.936C>T (p.Gly312=) | ClinVar dbSNP |
| 3 | g.14141634C>A | CA351536424 | TMEM43 | c.*1072C>A (n.*1072C>A) c.1042C>A (p.Leu348Met) n.327+2337C>A c.236+2337C>A c.937C>A (p.Leu313Met) | |
| 3 | g.14141634C= | CA1346973832 | TMEM43 | c.*1072C= (n.*1072C=) c.1042C= (p.Leu348=) n.327+2337C= c.236+2337C= c.937C= (p.Leu313=) | |
| 3 | g.14141634C>G | CA051056 | TMEM43 | c.*1072C>G (n.*1072C>G) c.1042C>G (p.Leu348Val) n.327+2337C>G c.236+2337C>G c.937C>G (p.Leu313Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.14141634C>T | CA432552887 | TMEM43 | c.*1072C>T (n.*1072C>T) c.1042C>T (p.Leu348=) n.327+2337C>T c.236+2337C>T c.937C>T (p.Leu313=) | |
| 3 | g.14141635T>A | CA351536425 | TMEM43 | c.*1073T>A (n.*1073T>A) c.1043T>A (p.Leu348Gln) n.327+2338T>A c.236+2338T>A c.938T>A (p.Leu313Gln) | |
| 3 | g.14141635T>C | CA351536426 | TMEM43 | c.*1073T>C (n.*1073T>C) c.1043T>C (p.Leu348Pro) n.327+2338T>C c.236+2338T>C c.938T>C (p.Leu313Pro) | |
| 3 | g.14141635T>G | CA351536427 | TMEM43 | c.*1073T>G (n.*1073T>G) c.1043T>G (p.Leu348Arg) n.327+2338T>G c.236+2338T>G c.938T>G (p.Leu313Arg) | |
| 3 | g.14141636G>A | CA432552891 | TMEM43 | c.*1074G>A (n.*1074G>A) c.1044G>A (p.Leu348=) n.327+2339G>A c.236+2339G>A c.939G>A (p.Leu313=) | |
| 3 | g.14141636G>C | CA432552892 | TMEM43 | c.*1074G>C (n.*1074G>C) c.1044G>C (p.Leu348=) n.327+2339G>C c.236+2339G>C c.939G>C (p.Leu313=) | |
| 3 | g.14141636G>T | CA432552893 | TMEM43 | c.*1074G>T (n.*1074G>T) c.1044G>T (p.Leu348=) n.327+2339G>T c.236+2339G>T c.939G>T (p.Leu313=) | |
| 3 | g.14141637A>C | CA351536429 | TMEM43 | c.*1075A>C (n.*1075A>C) c.1045A>C (p.Lys349Gln) n.327+2340A>C c.236+2340A>C c.940A>C (p.Lys314Gln) | |
| 3 | g.14141637A>G | CA351536430 | TMEM43 | c.*1075A>G (n.*1075A>G) c.1045A>G (p.Lys349Glu) n.327+2340A>G c.236+2340A>G c.940A>G (p.Lys314Glu) | |
| 3 | g.14141637A>T | CA351536428 | TMEM43 | c.*1075A>T (n.*1075A>T) c.1045A>T (p.Lys349Ter) n.327+2340A>T c.236+2340A>T c.940A>T (p.Lys314Ter) | |
| 3 | g.14141638A>C | CA351536431 | TMEM43 | c.*1076A>C (n.*1076A>C) c.1046A>C (p.Lys349Thr) n.327+2341A>C c.236+2341A>C c.941A>C (p.Lys314Thr) | |
| 3 | g.14141638A>G | CA351536432 | TMEM43 | c.*1076A>G (n.*1076A>G) c.1046A>G (p.Lys349Arg) n.327+2341A>G c.236+2341A>G c.941A>G (p.Lys314Arg) | |
| 3 | g.14141638A>T | CA351536433 | TMEM43 | c.*1076A>T (n.*1076A>T) c.1046A>T (p.Lys349Ile) n.327+2341A>T c.236+2341A>T c.941A>T (p.Lys314Ile) | |
| 3 | g.14141639A>C | CA351536434 | TMEM43 | c.*1077A>C (n.*1077A>C) c.1047A>C (p.Lys349Asn) n.327+2342A>C c.236+2342A>C c.942A>C (p.Lys314Asn) | gnomAD v4 |
| 3 | g.14141639A>G | CA432552900 | TMEM43 | c.*1077A>G (n.*1077A>G) c.1047A>G (p.Lys349=) n.327+2342A>G c.236+2342A>G c.942A>G (p.Lys314=) | |
| 3 | g.14141639A>T | CA351536435 | TMEM43 | c.*1077A>T (n.*1077A>T) c.1047A>T (p.Lys349Asn) n.327+2342A>T c.236+2342A>T c.942A>T (p.Lys314Asn) | |
| 3 | g.14141640G>A | CA351536438 | TMEM43 | c.*1078G>A (n.*1078G>A) c.1048G>A (p.Ala350Thr) n.327+2343G>A c.236+2343G>A c.943G>A (p.Ala315Thr) | |
| 3 | g.14141640G>C | CA351536436 | TMEM43 | c.*1078G>C (n.*1078G>C) c.1048G>C (p.Ala350Pro) n.327+2343G>C c.236+2343G>C c.943G>C (p.Ala315Pro) | |
| 3 | g.14141640G>T | CA351536437 | TMEM43 | c.*1078G>T (n.*1078G>T) c.1048G>T (p.Ala350Ser) n.327+2343G>T c.236+2343G>T c.943G>T (p.Ala315Ser) | gnomAD v4 |
| 3 | g.14141641C>A | CA351536439 | TMEM43 | c.*1079C>A (n.*1079C>A) c.1049C>A (p.Ala350Asp) n.327+2344C>A c.236+2344C>A c.944C>A (p.Ala315Asp) | |
| 3 | g.14141641C>G | CA351536440 | TMEM43 | c.*1079C>G (n.*1079C>G) c.1049C>G (p.Ala350Gly) n.327+2344C>G c.236+2344C>G c.944C>G (p.Ala315Gly) | |
| 3 | g.14141641C>T | CA351536441 | TMEM43 | c.*1079C>T (n.*1079C>T) c.1049C>T (p.Ala350Val) n.327+2344C>T c.236+2344C>T c.944C>T (p.Ala315Val) |