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 |
|---|---|---|---|---|---|
| 19 | g.18594341_18594361dup | CA2583602752 | CRLF1 | c.1105_1125dup (p.Lys375_Lys376insGlnPheLeuGlyTrpLeuLys) n.82_102dup c.1039_1059dup (p.Lys353_Lys354insGlnPheLeuGlyTrpLeuLys) | gnomAD v4 |
| 19 | g.18594340C>A | CA404850219 | CRLF1 | c.1119G>T (p.Trp373Cys) n.96G>T c.1053G>T (p.Trp351Cys) | |
| 19 | g.18594340C>G | CA404850218 | CRLF1 | c.1119G>C (p.Trp373Cys) n.96G>C c.1053G>C (p.Trp351Cys) | |
| 19 | g.18594340C>T | CA404850217 | CRLF1 | c.1119G>A (p.Trp373Ter) n.96G>A c.1053G>A (p.Trp351Ter) | gnomAD v4 |
| 19 | g.18594341C>A | CA404850220 | CRLF1 | c.1118G>T (p.Trp373Leu) n.95G>T c.1052G>T (p.Trp351Leu) | |
| 19 | g.18594341C>G | CA404850222 | CRLF1 | c.1118G>C (p.Trp373Ser) n.95G>C c.1052G>C (p.Trp351Ser) | |
| 19 | g.18594341C>T | CA404850221 | CRLF1 | c.1118G>A (p.Trp373Ter) n.95G>A c.1052G>A (p.Trp351Ter) | |
| 19 | g.18594342A= | CA2326431052 | CRLF1 | c.1117T= (p.Trp373=) n.94T= c.1051T= (p.Trp351=) | |
| 19 | g.18594342A>C | CA404850223 | CRLF1 | c.1117T>G (p.Trp373Gly) n.94T>G c.1051T>G (p.Trp351Gly) | |
| 19 | g.18594342A>G | CA404850224 | CRLF1 | c.1117T>C (p.Trp373Arg) n.94T>C c.1051T>C (p.Trp351Arg) | |
| 19 | g.18594342A>T | CA9313997 | CRLF1 | c.1117T>A (p.Trp373Arg) n.94T>A c.1051T>A (p.Trp351Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18594343G>A | CA506044092 | CRLF1 | c.1116C>T (p.Gly372=) n.93C>T c.1050C>T (p.Gly350=) | |
| 19 | g.18594343G>C | CA506044094 | CRLF1 | c.1116C>G (p.Gly372=) n.93C>G c.1050C>G (p.Gly350=) | |
| 19 | g.18594343G>T | CA506044093 | CRLF1 | c.1116C>A (p.Gly372=) n.93C>A c.1050C>A (p.Gly350=) | |
| 19 | g.18594344C>A | CA404850225 | CRLF1 | c.1115G>T (p.Gly372Val) n.92G>T c.1049G>T (p.Gly350Val) | |
| 19 | g.18594344C>G | CA404850226 | CRLF1 | c.1115G>C (p.Gly372Ala) n.92G>C c.1049G>C (p.Gly350Ala) | gnomAD v4 |
| 19 | g.18594344C>T | CA404850227 | CRLF1 | c.1115G>A (p.Gly372Asp) n.92G>A c.1049G>A (p.Gly350Asp) | |
| 19 | g.18594345C>A | CA404850228 | CRLF1 | c.1114G>T (p.Gly372Cys) n.91G>T c.1048G>T (p.Gly350Cys) | gnomAD v4 |
| 19 | g.18594345C>G | CA404850229 | CRLF1 | c.1114G>C (p.Gly372Arg) n.91G>C c.1048G>C (p.Gly350Arg) | |
| 19 | g.18594345C>T | CA404850230 | CRLF1 | c.1114G>A (p.Gly372Ser) n.91G>A c.1048G>A (p.Gly350Ser) | gnomAD v4 |
| 19 | g.18594346C>A | CA506044095 | CRLF1 | c.1113G>T (p.Leu371=) n.90G>T c.1047G>T (p.Leu349=) | |
| 19 | g.18594346C>G | CA506044096 | CRLF1 | c.1113G>C (p.Leu371=) n.90G>C c.1047G>C (p.Leu349=) | |
| 19 | g.18594346C>T | CA506044097 | CRLF1 | c.1113G>A (p.Leu371=) n.90G>A c.1047G>A (p.Leu349=) | |
| 19 | g.18594347A= | CA2326431053 | CRLF1 | c.1112T= (p.Leu371=) n.89T= c.1046T= (p.Leu349=) | |
| 19 | g.18594347A>C | CA404850231 | CRLF1 | c.1112T>G (p.Leu371Arg) n.89T>G c.1046T>G (p.Leu349Arg) | dbSNP |
| 19 | g.18594347A>G | CA404850232 | CRLF1 | c.1112T>C (p.Leu371Pro) n.89T>C c.1046T>C (p.Leu349Pro) | |
| 19 | g.18594347A>T | CA404850233 | CRLF1 | c.1112T>A (p.Leu371Gln) n.89T>A c.1046T>A (p.Leu349Gln) | |
| 19 | g.18594348G>A | CA9313998 | CRLF1 | c.1111C>T (p.Leu371=) n.88C>T c.1045C>T (p.Leu349=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18594348G>C | CA404850235 | CRLF1 | c.1111C>G (p.Leu371Val) n.88C>G c.1045C>G (p.Leu349Val) | |
| 19 | g.18594348G= | CA2326431054 | CRLF1 | c.1111C= (p.Leu371=) n.88C= c.1045C= (p.Leu349=) | |
| 19 | g.18594348G>T | CA404850234 | CRLF1 | c.1111C>A (p.Leu371Met) n.88C>A c.1045C>A (p.Leu349Met) | |
| 19 | g.18594349G>A | CA506044098 | CRLF1 | c.1110C>T (p.Phe370=) n.87C>T c.1044C>T (p.Phe348=) | |
| 19 | g.18594349G>C | CA404850236 | CRLF1 | c.1110C>G (p.Phe370Leu) n.87C>G c.1044C>G (p.Phe348Leu) | |
| 19 | g.18594349G>T | CA404850237 | CRLF1 | c.1110C>A (p.Phe370Leu) n.87C>A c.1044C>A (p.Phe348Leu) | COSMIC |
| 19 | g.18594350A>C | CA404850238 | CRLF1 | c.1109T>G (p.Phe370Cys) n.86T>G c.1043T>G (p.Phe348Cys) | |
| 19 | g.18594350A>G | CA404850239 | CRLF1 | c.1109T>C (p.Phe370Ser) n.86T>C c.1043T>C (p.Phe348Ser) | |
| 19 | g.18594350A>T | CA404850240 | CRLF1 | c.1109T>A (p.Phe370Tyr) n.86T>A c.1043T>A (p.Phe348Tyr) | |
| 19 | g.18594351A= | CA2326431055 | CRLF1 | c.1108T= (p.Phe370=) n.85T= c.1042T= (p.Phe348=) | |
| 19 | g.18594351A>C | CA404850241 | CRLF1 | c.1108T>G (p.Phe370Val) n.85T>G c.1042T>G (p.Phe348Val) | |
| 19 | g.18594351A>G | CA404850242 | CRLF1 | c.1108T>C (p.Phe370Leu) n.85T>C c.1042T>C (p.Phe348Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18594351A>T | CA404850243 | CRLF1 | c.1108T>A (p.Phe370Ile) n.85T>A c.1042T>A (p.Phe348Ile) | |
| 19 | g.18594352C>A | CA404850244 | CRLF1 | c.1107G>T (p.Gln369His) n.84G>T c.1041G>T (p.Gln347His) | dbSNP gnomAD v4 |
| 19 | g.18594352C= | CA2326431056 | CRLF1 | c.1107G= (p.Gln369=) n.84G= c.1041G= (p.Gln347=) | |
| 19 | g.18594352C>G | CA404850245 | CRLF1 | c.1107G>C (p.Gln369His) n.84G>C c.1041G>C (p.Gln347His) | |
| 19 | g.18594352C>T | CA506044099 | CRLF1 | c.1107G>A (p.Gln369=) n.84G>A c.1041G>A (p.Gln347=) | |
| 19 | g.18594353T>A | CA404850247 | CRLF1 | c.1106A>T (p.Gln369Leu) n.83A>T c.1040A>T (p.Gln347Leu) | |
| 19 | g.18594353T>C | CA404850248 | CRLF1 | c.1106A>G (p.Gln369Arg) n.83A>G c.1040A>G (p.Gln347Arg) | gnomAD v4 |
| 19 | g.18594353T>G | CA404850246 | CRLF1 | c.1106A>C (p.Gln369Pro) n.83A>C c.1040A>C (p.Gln347Pro) | |
| 19 | g.18594354G>A | CA404850249 | CRLF1 | c.1105C>T (p.Gln369Ter) n.82C>T c.1039C>T (p.Gln347Ter) | |
| 19 | g.18594354G>C | CA404850250 | CRLF1 | c.1105C>G (p.Gln369Glu) n.82C>G c.1039C>G (p.Gln347Glu) |