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.99912472_99912479delinsAAAAAAAA | CA1148259336 | AGL | c.3904_3911delinsAAAAAAAA (p.Lys1302=) n.4115_4122delinsAAAAAAAA c.3856_3863delinsAAAAAAAA (p.Lys1286=) c.3853_3860delinsAAAAAAAA (p.Lys1285=) c.2164_2171delinsAAAAAAAA (p.Lys722=) | |
| 1 | g.99912479dup | CA967260 | AGL | c.3911dup (p.Asn1304LysfsTer7) n.4122dup c.3863dup (p.Asn1288LysfsTer7) c.3860dup (p.Asn1287LysfsTer7) c.2171dup (p.Asn724LysfsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.99912479del | CA967259 | AGL | c.3911del (p.Asn1304IlefsTer10) n.4122del c.3863del (p.Asn1288IlefsTer10) c.3860del (p.Asn1287IlefsTer10) c.2171del (p.Asn724IlefsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.99912479A>C | CA341338938 | AGL | c.3911A>C (p.Asn1304Thr) n.4122A>C c.3863A>C (p.Asn1288Thr) c.3860A>C (p.Asn1287Thr) c.2171A>C (p.Asn724Thr) | |
| 1 | g.99912479A>G | CA341338939 | AGL | c.3911A>G (p.Asn1304Ser) n.4122A>G c.3863A>G (p.Asn1288Ser) c.3860A>G (p.Asn1287Ser) c.2171A>G (p.Asn724Ser) | |
| 1 | g.99912479A>T | CA341338941 | AGL | c.3911A>T (p.Asn1304Ile) n.4122A>T c.3863A>T (p.Asn1288Ile) c.3860A>T (p.Asn1287Ile) c.2171A>T (p.Asn724Ile) | |
| 1 | g.99912479_99912480delinsAT | CA1183943115 | AGL | c.3911_3912delinsAT (p.Asn1304=) n.4122_4123delinsAT c.3863_3864delinsAT (p.Asn1288=) c.3860_3861delinsAT (p.Asn1287=) c.2171_2172delinsAT (p.Asn724=) | |
| 1 | g.99912480del | CA741020076 | AGL | c.3912del (p.Asn1304LysfsTer10) n.4123del c.3864del (p.Asn1288LysfsTer10) c.3861del (p.Asn1287LysfsTer10) c.2172del (p.Asn724LysfsTer10) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99912480T>A | CA341338942 | AGL | c.3912T>A (p.Asn1304Lys) n.4123T>A c.3864T>A (p.Asn1288Lys) c.3861T>A (p.Asn1287Lys) c.2172T>A (p.Asn724Lys) | ClinVar dbSNP |
| 1 | g.99912480T>C | CA419092554 | AGL | c.3912T>C (p.Asn1304=) n.4123T>C c.3864T>C (p.Asn1288=) c.3861T>C (p.Asn1287=) c.2172T>C (p.Asn724=) | |
| 1 | g.99912480T>G | CA341338943 | AGL | c.3912T>G (p.Asn1304Lys) n.4123T>G c.3864T>G (p.Asn1288Lys) c.3861T>G (p.Asn1287Lys) c.2172T>G (p.Asn724Lys) | |
| 1 | g.99912480T= | CA1183943119 | AGL | c.3912T= (p.Asn1304=) n.4123T= c.3864T= (p.Asn1288=) c.3861T= (p.Asn1287=) c.2172T= (p.Asn724=) | |
| 1 | g.99912481A= | CA1183943122 | AGL | c.3913A= (p.Ile1305=) n.4124A= c.3865A= (p.Ile1289=) c.3862A= (p.Ile1288=) c.2173A= (p.Ile725=) | |
| 1 | g.99912481A>C | CA341338944 | AGL | c.3913A>C (p.Ile1305Leu) n.4124A>C c.3865A>C (p.Ile1289Leu) c.3862A>C (p.Ile1288Leu) c.2173A>C (p.Ile725Leu) | |
| 1 | g.99912481A>G | CA341338946 | AGL | c.3913A>G (p.Ile1305Val) n.4124A>G c.3865A>G (p.Ile1289Val) c.3862A>G (p.Ile1288Val) c.2173A>G (p.Ile725Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99912481A>T | CA341338948 | AGL | c.3913A>T (p.Ile1305Phe) n.4124A>T c.3865A>T (p.Ile1289Phe) c.3862A>T (p.Ile1288Phe) c.2173A>T (p.Ile725Phe) | |
| 1 | g.99912482T>A | CA341338952 | AGL | c.3914T>A (p.Ile1305Asn) n.4125T>A c.3866T>A (p.Ile1289Asn) c.3863T>A (p.Ile1288Asn) c.2174T>A (p.Ile725Asn) | |
| 1 | g.99912482T>C | CA341338954 | AGL | c.3914T>C (p.Ile1305Thr) n.4125T>C c.3866T>C (p.Ile1289Thr) c.3863T>C (p.Ile1288Thr) c.2174T>C (p.Ile725Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.99912482T>G | CA341338951 | AGL | c.3914T>G (p.Ile1305Ser) n.4125T>G c.3866T>G (p.Ile1289Ser) c.3863T>G (p.Ile1288Ser) c.2174T>G (p.Ile725Ser) | |
| 1 | g.99912482T= | CA1183943127 | AGL | c.3914T= (p.Ile1305=) n.4125T= c.3866T= (p.Ile1289=) c.3863T= (p.Ile1288=) c.2174T= (p.Ile725=) | |
| 1 | g.99912483T>A | CA419092563 | AGL | c.3915T>A (p.Ile1305=) n.4126T>A c.3867T>A (p.Ile1289=) c.3864T>A (p.Ile1288=) c.2175T>A (p.Ile725=) | |
| 1 | g.99912483T>C | CA419092565 | AGL | c.3915T>C (p.Ile1305=) n.4126T>C c.3867T>C (p.Ile1289=) c.3864T>C (p.Ile1288=) c.2175T>C (p.Ile725=) | gnomAD v4 |
| 1 | g.99912483T>G | CA341338955 | AGL | c.3915T>G (p.Ile1305Met) n.4126T>G c.3867T>G (p.Ile1289Met) c.3864T>G (p.Ile1288Met) c.2175T>G (p.Ile725Met) | |
| 1 | g.99912484T>A | CA341338960 | AGL | c.3916T>A (p.Phe1306Ile) n.4127T>A c.3868T>A (p.Phe1290Ile) c.3865T>A (p.Phe1289Ile) c.2176T>A (p.Phe726Ile) | |
| 1 | g.99912484T>C | CA341338957 | AGL | c.3916T>C (p.Phe1306Leu) n.4127T>C c.3868T>C (p.Phe1290Leu) c.3865T>C (p.Phe1289Leu) c.2176T>C (p.Phe726Leu) | |
| 1 | g.99912484T>G | CA341338958 | AGL | c.3916T>G (p.Phe1306Val) n.4127T>G c.3868T>G (p.Phe1290Val) c.3865T>G (p.Phe1289Val) c.2176T>G (p.Phe726Val) | |
| 1 | g.99912485T>A | CA341338968 | AGL | c.3917T>A (p.Phe1306Tyr) n.4128T>A c.3869T>A (p.Phe1290Tyr) c.3866T>A (p.Phe1289Tyr) c.2177T>A (p.Phe726Tyr) | |
| 1 | g.99912485T>C | CA27555392 | AGL | c.3917T>C (p.Phe1306Ser) n.4128T>C c.3869T>C (p.Phe1290Ser) c.3866T>C (p.Phe1289Ser) c.2177T>C (p.Phe726Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.99912485T>G | CA341338971 | AGL | c.3917T>G (p.Phe1306Cys) n.4128T>G c.3869T>G (p.Phe1290Cys) c.3866T>G (p.Phe1289Cys) c.2177T>G (p.Phe726Cys) | |
| 1 | g.99912485T= | CA1140611855 | AGL | c.3917T= (p.Phe1306=) n.4128T= c.3869T= (p.Phe1290=) c.3866T= (p.Phe1289=) c.2177T= (p.Phe726=) | |
| 1 | g.99912486C>A | CA341338972 | AGL | c.3918C>A (p.Phe1306Leu) n.4129C>A c.3870C>A (p.Phe1290Leu) c.3867C>A (p.Phe1289Leu) c.2178C>A (p.Phe726Leu) | |
| 1 | g.99912486C= | CA1147810722 | AGL | c.3918C= (p.Phe1306=) n.4129C= c.3870C= (p.Phe1290=) c.3867C= (p.Phe1289=) c.2178C= (p.Phe726=) | |
| 1 | g.99912486C>G | CA341338974 | AGL | c.3918C>G (p.Phe1306Leu) n.4129C>G c.3870C>G (p.Phe1290Leu) c.3867C>G (p.Phe1289Leu) c.2178C>G (p.Phe726Leu) | |
| 1 | g.99912486C>T | CA967261 | AGL | c.3918C>T (p.Phe1306=) n.4129C>T c.3870C>T (p.Phe1290=) c.3867C>T (p.Phe1289=) c.2178C>T (p.Phe726=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99912487C>A | CA341338975 | AGL | c.3919C>A (p.Pro1307Thr) n.4130C>A c.3871C>A (p.Pro1291Thr) c.3868C>A (p.Pro1290Thr) c.2179C>A (p.Pro727Thr) | |
| 1 | g.99912487C>G | CA341338976 | AGL | c.3919C>G (p.Pro1307Ala) n.4130C>G c.3871C>G (p.Pro1291Ala) c.3868C>G (p.Pro1290Ala) c.2179C>G (p.Pro727Ala) | |
| 1 | g.99912487C>T | CA341338983 | AGL | c.3919C>T (p.Pro1307Ser) n.4130C>T c.3871C>T (p.Pro1291Ser) c.3868C>T (p.Pro1290Ser) c.2179C>T (p.Pro727Ser) | COSMIC COSMIC |
| 1 | g.99912488C>A | CA341338986 | AGL | c.3920C>A (p.Pro1307His) n.4131C>A c.3872C>A (p.Pro1291His) c.3869C>A (p.Pro1290His) c.2180C>A (p.Pro727His) | |
| 1 | g.99912488C= | CA1183943135 | AGL | c.3920C= (p.Pro1307=) n.4131C= c.3872C= (p.Pro1291=) c.3869C= (p.Pro1290=) c.2180C= (p.Pro727=) | |
| 1 | g.99912488C>G | CA27555401 | AGL | c.3920C>G (p.Pro1307Arg) n.4131C>G c.3872C>G (p.Pro1291Arg) c.3869C>G (p.Pro1290Arg) c.2180C>G (p.Pro727Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99912488C>T | CA341338984 | AGL | c.3920C>T (p.Pro1307Leu) n.4131C>T c.3872C>T (p.Pro1291Leu) c.3869C>T (p.Pro1290Leu) c.2180C>T (p.Pro727Leu) | gnomAD v4 |
| 1 | g.99912489T>A | CA419092591 | AGL | c.3921T>A (p.Pro1307=) n.4132T>A c.3873T>A (p.Pro1291=) c.3870T>A (p.Pro1290=) c.2181T>A (p.Pro727=) | |
| 1 | g.99912489T>C | CA419092594 | AGL | c.3921T>C (p.Pro1307=) n.4132T>C c.3873T>C (p.Pro1291=) c.3870T>C (p.Pro1290=) c.2181T>C (p.Pro727=) | |
| 1 | g.99912489T>G | CA419092597 | AGL | c.3921T>G (p.Pro1307=) n.4132T>G c.3873T>G (p.Pro1291=) c.3870T>G (p.Pro1290=) c.2181T>G (p.Pro727=) | ClinVar gnomAD v4 |
| 1 | g.99912490T>A | CA341338988 | AGL | c.3922T>A (p.Tyr1308Asn) n.4133T>A c.3874T>A (p.Tyr1292Asn) c.3871T>A (p.Tyr1291Asn) c.2182T>A (p.Tyr728Asn) | |
| 1 | g.99912490T>C | CA341338991 | AGL | c.3922T>C (p.Tyr1308His) n.4133T>C c.3874T>C (p.Tyr1292His) c.3871T>C (p.Tyr1291His) c.2182T>C (p.Tyr728His) | |
| 1 | g.99912490T>G | CA341338994 | AGL | c.3922T>G (p.Tyr1308Asp) n.4133T>G c.3874T>G (p.Tyr1292Asp) c.3871T>G (p.Tyr1291Asp) c.2182T>G (p.Tyr728Asp) | |
| 1 | g.99912491A>C | CA341339000 | AGL | c.3923A>C (p.Tyr1308Ser) n.4134A>C c.3875A>C (p.Tyr1292Ser) c.3872A>C (p.Tyr1291Ser) c.2183A>C (p.Tyr728Ser) | |
| 1 | g.99912491A>G | CA341339002 | AGL | c.3923A>G (p.Tyr1308Cys) n.4134A>G c.3875A>G (p.Tyr1292Cys) c.3872A>G (p.Tyr1291Cys) c.2183A>G (p.Tyr728Cys) | ClinVar gnomAD v4 |
| 1 | g.99912491A>T | CA341339003 | AGL | c.3923A>T (p.Tyr1308Phe) n.4134A>T c.3875A>T (p.Tyr1292Phe) c.3872A>T (p.Tyr1291Phe) c.2183A>T (p.Tyr728Phe) |