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.44148538_44152555dup | CA1139771162 | GCK | c.*207-130_*678-705dup c.209-130_680-705dup n.695-130_2387dup c.212-130_683-705dup c.206-130_677-705dup c.209-130_629-705dup | |
| 7 | g.44152384A>C | CA367402978 | GCK | c.*248T>G (n.*248T>G) c.250T>G (p.Phe84Val) n.736T>G c.253T>G (p.Phe85Val) c.247T>G (p.Phe83Val) | COSMIC COSMIC COSMIC |
| 7 | g.44152384A>G | CA367402981 | GCK | c.*248T>C (n.*248T>C) c.250T>C (p.Phe84Leu) n.736T>C c.253T>C (p.Phe85Leu) c.247T>C (p.Phe83Leu) | gnomAD v4 |
| 7 | g.44152384A>T | CA367402977 | GCK | c.*248T>A (n.*248T>A) c.250T>A (p.Phe84Ile) n.736T>A c.253T>A (p.Phe85Ile) c.247T>A (p.Phe83Ile) | |
| 7 | g.44152385G>A | CA454610298 | GCK | c.*247C>T (n.*247C>T) c.249C>T (p.Asn83=) n.735C>T c.252C>T (p.Asn84=) c.246C>T (p.Asn82=) | gnomAD v4 |
| 7 | g.44152385G>C | CA367402982 | GCK | c.*247C>G (n.*247C>G) c.249C>G (p.Asn83Lys) n.735C>G c.252C>G (p.Asn84Lys) c.246C>G (p.Asn82Lys) | |
| 7 | g.44152385G>T | CA367402983 | GCK | c.*247C>A (n.*247C>A) c.249C>A (p.Asn83Lys) n.735C>A c.252C>A (p.Asn84Lys) c.246C>A (p.Asn82Lys) | |
| 7 | g.44152386T>A | CA367402985 | GCK | c.*246A>T (n.*246A>T) c.248A>T (p.Asn83Ile) n.734A>T c.251A>T (p.Asn84Ile) c.245A>T (p.Asn82Ile) | |
| 7 | g.44152386T>C | CA367402987 | GCK | c.*246A>G (n.*246A>G) c.248A>G (p.Asn83Ser) n.734A>G c.251A>G (p.Asn84Ser) c.245A>G (p.Asn82Ser) | |
| 7 | g.44152386T>G | CA367402988 | GCK | c.*246A>C (n.*246A>C) c.248A>C (p.Asn83Thr) n.734A>C c.251A>C (p.Asn84Thr) c.245A>C (p.Asn82Thr) | |
| 7 | g.44152387T>A | CA367402993 | GCK | c.*245A>T (n.*245A>T) c.247A>T (p.Asn83Tyr) n.733A>T c.250A>T (p.Asn84Tyr) c.244A>T (p.Asn82Tyr) | |
| 7 | g.44152387T>C | CA367402992 | GCK | c.*245A>G (n.*245A>G) c.247A>G (p.Asn83Asp) n.733A>G c.250A>G (p.Asn84Asp) c.244A>G (p.Asn82Asp) | |
| 7 | g.44152387T>G | CA367402990 | GCK | c.*245A>C (n.*245A>C) c.247A>C (p.Asn83His) n.733A>C c.250A>C (p.Asn84His) c.244A>C (p.Asn82His) | |
| 7 | g.44152388A>C | CA454610305 | GCK | c.*244T>G (n.*244T>G) c.246T>G (p.Thr82=) n.732T>G c.249T>G (p.Thr83=) c.243T>G (p.Thr81=) | gnomAD v4 |
| 7 | g.44152388A>G | CA454610307 | GCK | c.*244T>C (n.*244T>C) c.246T>C (p.Thr82=) n.732T>C c.249T>C (p.Thr83=) c.243T>C (p.Thr81=) | |
| 7 | g.44152388A>T | CA454610306 | GCK | c.*244T>A (n.*244T>A) c.246T>A (p.Thr82=) n.732T>A c.249T>A (p.Thr83=) c.243T>A (p.Thr81=) | |
| 7 | g.44152389G>A | CA367402995 | GCK | c.*243C>T (n.*243C>T) c.245C>T (p.Thr82Ile) n.731C>T c.248C>T (p.Thr83Ile) c.242C>T (p.Thr81Ile) | ClinVar |
| 7 | g.44152389G>C | CA367402997 | GCK | c.*243C>G (n.*243C>G) c.245C>G (p.Thr82Ser) n.731C>G c.248C>G (p.Thr83Ser) c.242C>G (p.Thr81Ser) | |
| 7 | g.44152389G>T | CA367402998 | GCK | c.*243C>A (n.*243C>A) c.245C>A (p.Thr82Asn) n.731C>A c.248C>A (p.Thr83Asn) c.242C>A (p.Thr81Asn) | |
| 7 | g.44152390T>A | CA367403000 | GCK | c.*242A>T (n.*242A>T) c.244A>T (p.Thr82Ser) n.730A>T c.247A>T (p.Thr83Ser) c.241A>T (p.Thr81Ser) | |
| 7 | g.44152390T>C | CA367403002 | GCK | c.*242A>G (n.*242A>G) c.244A>G (p.Thr82Ala) n.730A>G c.247A>G (p.Thr83Ala) c.241A>G (p.Thr81Ala) | |
| 7 | g.44152390T>G | CA367403003 | GCK | c.*242A>C (n.*242A>C) c.244A>C (p.Thr82Pro) n.730A>C c.247A>C (p.Thr83Pro) c.241A>C (p.Thr81Pro) | |
| 7 | g.44152391G>A | CA454610309 | GCK | c.*241C>T (n.*241C>T) c.243C>T (p.Gly81=) n.729C>T c.246C>T (p.Gly82=) c.240C>T (p.Gly80=) | |
| 7 | g.44152391G>C | CA454610310 | GCK | c.*241C>G (n.*241C>G) c.243C>G (p.Gly81=) n.729C>G c.246C>G (p.Gly82=) c.240C>G (p.Gly80=) | |
| 7 | g.44152391G>T | CA454610312 | GCK | c.*241C>A (n.*241C>A) c.243C>A (p.Gly81=) n.729C>A c.246C>A (p.Gly82=) c.240C>A (p.Gly80=) | |
| 7 | g.44152392C>A | CA367403008 | GCK | c.*240G>T (n.*240G>T) c.242G>T (p.Gly81Val) n.728G>T c.245G>T (p.Gly82Val) c.239G>T (p.Gly80Val) | |
| 7 | g.44152392C= | CA1703637072 | GCK | c.*240G= (n.*240G=) c.242G= (p.Gly81=) n.728G= c.245G= (p.Gly82=) c.239G= (p.Gly80=) | |
| 7 | g.44152392C>G | CA367403006 | GCK | c.*240G>C (n.*240G>C) c.242G>C (p.Gly81Ala) n.728G>C c.245G>C (p.Gly82Ala) c.239G>C (p.Gly80Ala) | |
| 7 | g.44152392C>T | CA157919284 | GCK | c.*240G>A (n.*240G>A) c.242G>A (p.Gly81Asp) n.728G>A c.245G>A (p.Gly82Asp) c.239G>A (p.Gly80Asp) | dbSNP |
| 7 | g.44152393C>A | CA367403010 | GCK | c.*239G>T (n.*239G>T) c.241G>T (p.Gly81Cys) n.727G>T c.244G>T (p.Gly82Cys) c.238G>T (p.Gly80Cys) | |
| 7 | g.44152393C>G | CA367403013 | GCK | c.*239G>C (n.*239G>C) c.241G>C (p.Gly81Arg) n.727G>C c.244G>C (p.Gly82Arg) c.238G>C (p.Gly80Arg) | |
| 7 | g.44152393C>T | CA367403011 | GCK | c.*239G>A (n.*239G>A) c.241G>A (p.Gly81Ser) n.727G>A c.244G>A (p.Gly82Ser) c.238G>A (p.Gly80Ser) | |
| 7 | g.44152394A>C | CA454610315 | GCK | c.*238T>G (n.*238T>G) c.240T>G (p.Gly80=) n.726T>G c.243T>G (p.Gly81=) c.237T>G (p.Gly79=) | |
| 7 | g.44152394A>G | CA454610316 | GCK | c.*238T>C (n.*238T>C) c.240T>C (p.Gly80=) n.726T>C c.243T>C (p.Gly81=) c.237T>C (p.Gly79=) | |
| 7 | g.44152394A>T | CA454610317 | GCK | c.*238T>A (n.*238T>A) c.240T>A (p.Gly80=) n.726T>A c.243T>A (p.Gly81=) c.237T>A (p.Gly79=) | |
| 7 | g.44152395C>A | CA367403015 | GCK | c.*237G>T (n.*237G>T) c.239G>T (p.Gly80Val) n.725G>T c.242G>T (p.Gly81Val) c.236G>T (p.Gly79Val) | COSMIC COSMIC |
| 7 | g.44152395C>G | CA367403019 | GCK | c.*237G>C (n.*237G>C) c.239G>C (p.Gly80Ala) n.725G>C c.242G>C (p.Gly81Ala) c.236G>C (p.Gly79Ala) | |
| 7 | g.44152395C>T | CA367403017 | GCK | c.*237G>A (n.*237G>A) c.239G>A (p.Gly80Asp) n.725G>A c.242G>A (p.Gly81Asp) c.236G>A (p.Gly79Asp) | |
| 7 | g.44152396C>A | CA367403020 | GCK | c.*236G>T (n.*236G>T) c.238G>T (p.Gly80Cys) n.724G>T c.241G>T (p.Gly81Cys) c.235G>T (p.Gly79Cys) | |
| 7 | g.44152396C= | CA1703637073 | GCK | c.*236G= (n.*236G=) c.238G= (p.Gly80=) n.724G= c.241G= (p.Gly81=) c.235G= (p.Gly79=) | |
| 7 | g.44152396C>G | CA367403022 | GCK | c.*236G>C (n.*236G>C) c.238G>C (p.Gly80Arg) n.724G>C c.241G>C (p.Gly81Arg) c.235G>C (p.Gly79Arg) | |
| 7 | g.44152396C>T | CA367403023 | GCK | c.*236G>A (n.*236G>A) c.238G>A (p.Gly80Ser) n.724G>A c.241G>A (p.Gly81Ser) c.235G>A (p.Gly79Ser) | ClinVar dbSNP |
| 7 | g.44152397C>A | CA454610325 | GCK | c.*235G>T (n.*235G>T) c.237G>T (p.Leu79=) n.723G>T c.240G>T (p.Leu80=) c.234G>T (p.Leu78=) | |
| 7 | g.44152397C= | CA1703637074 | GCK | c.*235G= (n.*235G=) c.237G= (p.Leu79=) n.723G= c.240G= (p.Leu80=) c.234G= (p.Leu78=) | |
| 7 | g.44152397C>G | CA4239685 | GCK | c.*235G>C (n.*235G>C) c.237G>C (p.Leu79=) n.723G>C c.240G>C (p.Leu80=) c.234G>C (p.Leu78=) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 7 | g.44152397C>T | CA4239686 | GCK | c.*235G>A (n.*235G>A) c.237G>A (p.Leu79=) n.723G>A c.240G>A (p.Leu80=) c.234G>A (p.Leu78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44152398A>C | CA367403026 | GCK | c.*234T>G (n.*234T>G) c.236T>G (p.Leu79Arg) n.722T>G c.239T>G (p.Leu80Arg) c.233T>G (p.Leu78Arg) | |
| 7 | g.44152398A>G | CA367403028 | GCK | c.*234T>C (n.*234T>C) c.236T>C (p.Leu79Pro) n.722T>C c.239T>C (p.Leu80Pro) c.233T>C (p.Leu78Pro) | |
| 7 | g.44152398A>T | CA367403030 | GCK | c.*234T>A (n.*234T>A) c.236T>A (p.Leu79Gln) n.722T>A c.239T>A (p.Leu80Gln) c.233T>A (p.Leu78Gln) | |
| 7 | g.44152399G>A | CA454610327 | GCK | c.*233C>T (n.*233C>T) c.235C>T (p.Leu79=) n.721C>T c.238C>T (p.Leu80=) c.232C>T (p.Leu78=) |