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 |
|---|---|---|---|---|---|
| 7 | g.5641185C>A | CA366710402 | RNF216 | c.2351G>T (p.Cys784Phe) c.*1468G>T (n.*1468G>T) c.2180G>T (p.Cys727Phe) n.568G>T c.1046G>T (p.Cys349Phe) | |
| 7 | g.5641185C>G | CA366710405 | RNF216 | c.2351G>C (p.Cys784Ser) c.*1468G>C (n.*1468G>C) c.2180G>C (p.Cys727Ser) n.568G>C c.1046G>C (p.Cys349Ser) | |
| 7 | g.5641185C>T | CA366710408 | RNF216 | c.2351G>A (p.Cys784Tyr) c.*1468G>A (n.*1468G>A) c.2180G>A (p.Cys727Tyr) n.568G>A c.1046G>A (p.Cys349Tyr) | |
| 7 | g.5641186A>C | CA366710420 | RNF216 | c.2350T>G (p.Cys784Gly) c.*1467T>G (n.*1467T>G) c.2179T>G (p.Cys727Gly) n.567T>G c.1045T>G (p.Cys349Gly) | |
| 7 | g.5641186A>G | CA366710416 | RNF216 | c.2350T>C (p.Cys784Arg) c.*1467T>C (n.*1467T>C) c.2179T>C (p.Cys727Arg) n.567T>C c.1045T>C (p.Cys349Arg) | gnomAD v4 |
| 7 | g.5641186A>T | CA366710412 | RNF216 | c.2350T>A (p.Cys784Ser) c.*1467T>A (n.*1467T>A) c.2179T>A (p.Cys727Ser) n.567T>A c.1045T>A (p.Cys349Ser) | |
| 7 | g.5641187C>A | CA366710424 | RNF216 | c.2349G>T (p.Glu783Asp) c.*1466G>T (n.*1466G>T) c.2178G>T (p.Glu726Asp) n.566G>T c.1044G>T (p.Glu348Asp) | |
| 7 | g.5641187C>G | CA366710429 | RNF216 | c.2349G>C (p.Glu783Asp) c.*1466G>C (n.*1466G>C) c.2178G>C (p.Glu726Asp) n.566G>C c.1044G>C (p.Glu348Asp) | |
| 7 | g.5641187C>T | CA453640028 | RNF216 | c.2349G>A (p.Glu783=) c.*1466G>A (n.*1466G>A) c.2178G>A (p.Glu726=) n.566G>A c.1044G>A (p.Glu348=) | |
| 7 | g.5641188T>A | CA366710433 | RNF216 | c.2348A>T (p.Glu783Val) c.*1465A>T (n.*1465A>T) c.2177A>T (p.Glu726Val) n.565A>T c.1043A>T (p.Glu348Val) | |
| 7 | g.5641188T>C | CA366710435 | RNF216 | c.2348A>G (p.Glu783Gly) c.*1465A>G (n.*1465A>G) c.2177A>G (p.Glu726Gly) n.565A>G c.1043A>G (p.Glu348Gly) | gnomAD v4 |
| 7 | g.5641188T>G | CA366710440 | RNF216 | c.2348A>C (p.Glu783Ala) c.*1465A>C (n.*1465A>C) c.2177A>C (p.Glu726Ala) n.565A>C c.1043A>C (p.Glu348Ala) | gnomAD v4 |
| 7 | g.5641189C>A | CA366710451 | RNF216 | c.2347G>T (p.Glu783Ter) c.*1464G>T (n.*1464G>T) c.2176G>T (p.Glu726Ter) n.564G>T c.1042G>T (p.Glu348Ter) | |
| 7 | g.5641189C= | CA1685037881 | RNF216 | c.2347G= (p.Glu783=) c.*1464G= (n.*1464G=) c.2176G= (p.Glu726=) n.564G= c.1042G= (p.Glu348=) | |
| 7 | g.5641189C>G | CA4147845 | RNF216 | c.2347G>C (p.Glu783Gln) c.*1464G>C (n.*1464G>C) c.2176G>C (p.Glu726Gln) n.564G>C c.1042G>C (p.Glu348Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5641189C>T | CA366710459 | RNF216 | c.2347G>A (p.Glu783Lys) c.*1464G>A (n.*1464G>A) c.2176G>A (p.Glu726Lys) n.564G>A c.1042G>A (p.Glu348Lys) | |
| 7 | g.5641190C>A | CA366710469 | RNF216 | c.2346G>T (p.Gln782His) c.*1463G>T (n.*1463G>T) c.2175G>T (p.Gln725His) n.563G>T c.1041G>T (p.Gln347His) | |
| 7 | g.5641190C>G | CA366710473 | RNF216 | c.2346G>C (p.Gln782His) c.*1463G>C (n.*1463G>C) c.2175G>C (p.Gln725His) n.563G>C c.1041G>C (p.Gln347His) | |
| 7 | g.5641190C>T | CA453640033 | RNF216 | c.2346G>A (p.Gln782=) c.*1463G>A (n.*1463G>A) c.2175G>A (p.Gln725=) n.563G>A c.1041G>A (p.Gln347=) | gnomAD v4 |
| 7 | g.5641191T>A | CA366710477 | RNF216 | c.2345A>T (p.Gln782Leu) c.*1462A>T (n.*1462A>T) c.2174A>T (p.Gln725Leu) n.562A>T c.1040A>T (p.Gln347Leu) | |
| 7 | g.5641191T>C | CA366710480 | RNF216 | c.2345A>G (p.Gln782Arg) c.*1462A>G (n.*1462A>G) c.2174A>G (p.Gln725Arg) n.562A>G c.1040A>G (p.Gln347Arg) | dbSNP |
| 7 | g.5641191T>G | CA366710483 | RNF216 | c.2345A>C (p.Gln782Pro) c.*1462A>C (n.*1462A>C) c.2174A>C (p.Gln725Pro) n.562A>C c.1040A>C (p.Gln347Pro) | |
| 7 | g.5641191T= | CA1685037883 | RNF216 | c.2345A= (p.Gln782=) c.*1462A= (n.*1462A=) c.2174A= (p.Gln725=) n.562A= c.1040A= (p.Gln347=) | |
| 7 | g.5641192G>A | CA366710488 | RNF216 | c.2344C>T (p.Gln782Ter) c.*1461C>T (n.*1461C>T) c.2173C>T (p.Gln725Ter) n.561C>T c.1039C>T (p.Gln347Ter) | gnomAD v4 |
| 7 | g.5641192G>C | CA366710489 | RNF216 | c.2344C>G (p.Gln782Glu) c.*1461C>G (n.*1461C>G) c.2173C>G (p.Gln725Glu) n.561C>G c.1039C>G (p.Gln347Glu) | |
| 7 | g.5641192G>T | CA366710486 | RNF216 | c.2344C>A (p.Gln782Lys) c.*1461C>A (n.*1461C>A) c.2173C>A (p.Gln725Lys) n.561C>A c.1039C>A (p.Gln347Lys) | |
| 7 | g.5641193G>A | CA453640039 | RNF216 | c.2343C>T (p.Cys781=) c.*1460C>T (n.*1460C>T) c.2172C>T (p.Cys724=) n.560C>T c.1038C>T (p.Cys346=) | gnomAD v4 |
| 7 | g.5641193G>C | CA153208307 | RNF216 | c.2343C>G (p.Cys781Trp) c.*1460C>G (n.*1460C>G) c.2172C>G (p.Cys724Trp) n.560C>G c.1038C>G (p.Cys346Trp) | dbSNP |
| 7 | g.5641193G= | CA1685037886 | RNF216 | c.2343C= (p.Cys781=) c.*1460C= (n.*1460C=) c.2172C= (p.Cys724=) n.560C= c.1038C= (p.Cys346=) | |
| 7 | g.5641193G>T | CA366710491 | RNF216 | c.2343C>A (p.Cys781Ter) c.*1460C>A (n.*1460C>A) c.2172C>A (p.Cys724Ter) n.560C>A c.1038C>A (p.Cys346Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.5641194C>A | CA366710497 | RNF216 | c.2342G>T (p.Cys781Phe) c.*1459G>T (n.*1459G>T) c.2171G>T (p.Cys724Phe) n.559G>T c.1037G>T (p.Cys346Phe) | |
| 7 | g.5641194C>G | CA366710506 | RNF216 | c.2342G>C (p.Cys781Ser) c.*1459G>C (n.*1459G>C) c.2171G>C (p.Cys724Ser) n.559G>C c.1037G>C (p.Cys346Ser) | |
| 7 | g.5641194C>T | CA366710501 | RNF216 | c.2342G>A (p.Cys781Tyr) c.*1459G>A (n.*1459G>A) c.2171G>A (p.Cys724Tyr) n.559G>A c.1037G>A (p.Cys346Tyr) | |
| 7 | g.5641195A>C | CA366710509 | RNF216 | c.2341T>G (p.Cys781Gly) c.*1458T>G (n.*1458T>G) c.2170T>G (p.Cys724Gly) n.558T>G c.1036T>G (p.Cys346Gly) | |
| 7 | g.5641195A>G | CA366710511 | RNF216 | c.2341T>C (p.Cys781Arg) c.*1458T>C (n.*1458T>C) c.2170T>C (p.Cys724Arg) n.558T>C c.1036T>C (p.Cys346Arg) | |
| 7 | g.5641195A>T | CA366710514 | RNF216 | c.2341T>A (p.Cys781Ser) c.*1458T>A (n.*1458T>A) c.2170T>A (p.Cys724Ser) n.558T>A c.1036T>A (p.Cys346Ser) | |
| 7 | g.5641196del | CA2578822605 | RNF216 | c.2341del (p.Cys781AlafsTer?) c.*1458del (n.*1458del) c.2170del (p.Cys724AlafsTer?) n.558del c.1036del (p.Cys346AlafsTer?) | |
| 7 | g.5641195_5641208dup | CA2681658198 | RNF216 | c.2328_2341dup (p.Cys781TyrfsTer?) c.*1445_*1458dup (n.*1445_*1458dup) c.2157_2170dup (p.Cys724TyrfsTer?) n.545_558dup c.1023_1036dup (p.Cys346TyrfsTer?) | gnomAD v4 |
| 7 | g.5641196A>C | CA453640045 | RNF216 | c.2340T>G (p.Pro780=) c.*1457T>G (n.*1457T>G) c.2169T>G (p.Pro723=) n.557T>G c.1035T>G (p.Pro345=) | |
| 7 | g.5641196A>G | CA453640044 | RNF216 | c.2340T>C (p.Pro780=) c.*1457T>C (n.*1457T>C) c.2169T>C (p.Pro723=) n.557T>C c.1035T>C (p.Pro345=) | |
| 7 | g.5641196A>T | CA453640043 | RNF216 | c.2340T>A (p.Pro780=) c.*1457T>A (n.*1457T>A) c.2169T>A (p.Pro723=) n.557T>A c.1035T>A (p.Pro345=) | |
| 7 | g.5641197G>A | CA4147846 | RNF216 | c.2339C>T (p.Pro780Leu) c.*1456C>T (n.*1456C>T) c.2168C>T (p.Pro723Leu) n.556C>T c.1034C>T (p.Pro345Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.5641197G>C | CA366710521 | RNF216 | c.2339C>G (p.Pro780Arg) c.*1456C>G (n.*1456C>G) c.2168C>G (p.Pro723Arg) n.556C>G c.1034C>G (p.Pro345Arg) | |
| 7 | g.5641197G= | CA1685037892 | RNF216 | c.2339C= (p.Pro780=) c.*1456C= (n.*1456C=) c.2168C= (p.Pro723=) n.556C= c.1034C= (p.Pro345=) | |
| 7 | g.5641197G>T | CA366710528 | RNF216 | c.2339C>A (p.Pro780His) c.*1456C>A (n.*1456C>A) c.2168C>A (p.Pro723His) n.556C>A c.1034C>A (p.Pro345His) | |
| 7 | g.5641198G>A | CA153208311 | RNF216 | c.2338C>T (p.Pro780Ser) c.*1455C>T (n.*1455C>T) c.2167C>T (p.Pro723Ser) n.555C>T c.1033C>T (p.Pro345Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.5641198G>C | CA366710535 | RNF216 | c.2338C>G (p.Pro780Ala) c.*1455C>G (n.*1455C>G) c.2167C>G (p.Pro723Ala) n.555C>G c.1033C>G (p.Pro345Ala) | dbSNP |
| 7 | g.5641198G= | CA1685037897 | RNF216 | c.2338C= (p.Pro780=) c.*1455C= (n.*1455C=) c.2167C= (p.Pro723=) n.555C= c.1033C= (p.Pro345=) | |
| 7 | g.5641198G>T | CA366710539 | RNF216 | c.2338C>A (p.Pro780Thr) c.*1455C>A (n.*1455C>A) c.2167C>A (p.Pro723Thr) n.555C>A c.1033C>A (p.Pro345Thr) | |
| 7 | g.5641199G>A | CA453640049 | RNF216 | c.2337C>T (p.Ala779=) c.*1454C>T (n.*1454C>T) c.2166C>T (p.Ala722=) n.554C>T c.1032C>T (p.Ala344=) | gnomAD v4 |