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 |
|---|---|---|---|---|---|
| 1 | g.172665641_172665725delinsCATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAA | CA1207431644 | FASLG | c.471_555delinsCATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAA (p.Ser157=) c.*41_*125delinsCATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAA (n.*41_*125delinsCATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAA) | |
| 1 | g.172665642_172665726delinsATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAAA | CA1141189174 | FASLG | c.472_556delinsATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAAA (p.Met158=) c.*42_*126delinsATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAAA (n.*42_*126delinsATGCCTCTGGAATGGGAAGACACCTATGGAATTGTCCTGCTTTCTGGAGTGAAGTATAAGAAGGGTGGCCTTGTGATCAATGAAA) | |
| 1 | g.172665643_172665726del | CA126563 | FASLG | c.473_556del (p.Met158_Glu185del) c.*43_*126del (n.*43_*126del) | ClinVar dbSNP |
| 1 | g.172665643T>A | CA343805930 | FASLG | c.473T>A (p.Met158Lys) c.*43T>A (n.*43T>A) | |
| 1 | g.172665643T>C | CA343805928 | FASLG | c.473T>C (p.Met158Thr) c.*43T>C (n.*43T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.172665643T>G | CA343805929 | FASLG | c.473T>G (p.Met158Arg) c.*43T>G (n.*43T>G) | |
| 1 | g.172665643T= | CA1207431645 | FASLG | c.473T= (p.Met158=) c.*43T= (n.*43T=) | |
| 1 | g.172665644G>A | CA343805931 | FASLG | c.474G>A (p.Met158Ile) c.*44G>A (n.*44G>A) | |
| 1 | g.172665644G>C | CA32979640 | FASLG | c.474G>C (p.Met158Ile) c.*44G>C (n.*44G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.172665644G= | CA1207431646 | FASLG | c.474G= (p.Met158=) c.*44G= (n.*44G=) | |
| 1 | g.172665644G>T | CA343805932 | FASLG | c.474G>T (p.Met158Ile) c.*44G>T (n.*44G>T) | |
| 1 | g.172665645C>A | CA343805933 | FASLG | c.475C>A (p.Pro159Thr) c.*45C>A (n.*45C>A) | gnomAD v4 |
| 1 | g.172665645C>G | CA343805934 | FASLG | c.475C>G (p.Pro159Ala) c.*45C>G (n.*45C>G) | |
| 1 | g.172665645C>T | CA343805935 | FASLG | c.475C>T (p.Pro159Ser) c.*45C>T (n.*45C>T) | |
| 1 | g.172665646C>A | CA343805936 | FASLG | c.476C>A (p.Pro159His) c.*46C>A (n.*46C>A) | |
| 1 | g.172665646C>G | CA343805937 | FASLG | c.476C>G (p.Pro159Arg) c.*46C>G (n.*46C>G) | |
| 1 | g.172665646C>T | CA343805938 | FASLG | c.476C>T (p.Pro159Leu) c.*46C>T (n.*46C>T) | |
| 1 | g.172665647T>A | CA421944408 | FASLG | c.477T>A (p.Pro159=) c.*47T>A (n.*47T>A) | |
| 1 | g.172665647T>C | CA421944409 | FASLG | c.477T>C (p.Pro159=) c.*47T>C (n.*47T>C) | |
| 1 | g.172665647T>G | CA421944410 | FASLG | c.477T>G (p.Pro159=) c.*47T>G (n.*47T>G) | |
| 1 | g.172665648C>A | CA343805939 | FASLG | c.478C>A (p.Leu160Met) c.*48C>A (n.*48C>A) | |
| 1 | g.172665648C>G | CA343805940 | FASLG | c.478C>G (p.Leu160Val) c.*48C>G (n.*48C>G) | |
| 1 | g.172665648C>T | CA421944411 | FASLG | c.478C>T (p.Leu160=) c.*48C>T (n.*48C>T) | |
| 1 | g.172665649T>A | CA343805941 | FASLG | c.479T>A (p.Leu160Gln) c.*49T>A (n.*49T>A) | |
| 1 | g.172665649T>C | CA343805943 | FASLG | c.479T>C (p.Leu160Pro) c.*49T>C (n.*49T>C) | |
| 1 | g.172665649T>G | CA343805942 | FASLG | c.479T>G (p.Leu160Arg) c.*49T>G (n.*49T>G) | |
| 1 | g.172665650G>A | CA421944412 | FASLG | c.480G>A (p.Leu160=) c.*50G>A (n.*50G>A) | gnomAD v4 |
| 1 | g.172665650G>C | CA421944413 | FASLG | c.480G>C (p.Leu160=) c.*50G>C (n.*50G>C) | |
| 1 | g.172665650G>T | CA421944414 | FASLG | c.480G>T (p.Leu160=) c.*50G>T (n.*50G>T) | |
| 1 | g.172665651G>A | CA343805944 | FASLG | c.481G>A (p.Glu161Lys) c.*51G>A (n.*51G>A) | COSMIC |
| 1 | g.172665651G>C | CA343805945 | FASLG | c.481G>C (p.Glu161Gln) c.*51G>C (n.*51G>C) | |
| 1 | g.172665651G>T | CA343805946 | FASLG | c.481G>T (p.Glu161Ter) c.*51G>T (n.*51G>T) | gnomAD v4 |
| 1 | g.172665652A= | CA1207431647 | FASLG | c.482A= (p.Glu161=) c.*52A= (n.*52A=) | |
| 1 | g.172665652A>C | CA343805947 | FASLG | c.482A>C (p.Glu161Ala) c.*52A>C (n.*52A>C) | |
| 1 | g.172665652A>G | CA343805948 | FASLG | c.482A>G (p.Glu161Gly) c.*52A>G (n.*52A>G) | |
| 1 | g.172665652A>T | CA343805949 | FASLG | c.482A>T (p.Glu161Val) c.*52A>T (n.*52A>T) | dbSNP |
| 1 | g.172665653A>C | CA343805950 | FASLG | c.483A>C (p.Glu161Asp) c.*53A>C (n.*53A>C) | |
| 1 | g.172665653A>G | CA421944415 | FASLG | c.483A>G (p.Glu161=) c.*53A>G (n.*53A>G) | gnomAD v4 |
| 1 | g.172665653A>T | CA343805951 | FASLG | c.483A>T (p.Glu161Asp) c.*53A>T (n.*53A>T) | |
| 1 | g.172665654T>A | CA343805952 | FASLG | c.484T>A (p.Trp162Arg) c.*54T>A (n.*54T>A) | |
| 1 | g.172665654T>C | CA343805953 | FASLG | c.484T>C (p.Trp162Arg) c.*54T>C (n.*54T>C) | ClinVar dbSNP |
| 1 | g.172665654T>G | CA343805954 | FASLG | c.484T>G (p.Trp162Gly) c.*54T>G (n.*54T>G) | |
| 1 | g.172665655G>A | CA343805957 | FASLG | c.485G>A (p.Trp162Ter) c.*55G>A (n.*55G>A) | |
| 1 | g.172665655G>C | CA343805956 | FASLG | c.485G>C (p.Trp162Ser) c.*55G>C (n.*55G>C) | |
| 1 | g.172665655G>T | CA343805955 | FASLG | c.485G>T (p.Trp162Leu) c.*55G>T (n.*55G>T) | |
| 1 | g.172665656G>A | CA343805958 | FASLG | c.486G>A (p.Trp162Ter) c.*56G>A (n.*56G>A) | |
| 1 | g.172665656G>C | CA343805960 | FASLG | c.486G>C (p.Trp162Cys) c.*56G>C (n.*56G>C) | |
| 1 | g.172665656G>T | CA343805959 | FASLG | c.486G>T (p.Trp162Cys) c.*56G>T (n.*56G>T) | gnomAD v4 |
| 1 | g.172665657G>A | CA343805961 | FASLG | c.487G>A (p.Glu163Lys) c.*57G>A (n.*57G>A) | COSMIC |
| 1 | g.172665657G>C | CA343805962 | FASLG | c.487G>C (p.Glu163Gln) c.*57G>C (n.*57G>C) |