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.44152377A>C | CA367402951 | GCK | c.*255T>G (n.*255T>G) c.257T>G (p.Val86Gly) n.743T>G c.260T>G (p.Val87Gly) c.254T>G (p.Val85Gly) | |
| 7 | g.44152377A>G | CA367402952 | GCK | c.*255T>C (n.*255T>C) c.257T>C (p.Val86Ala) n.743T>C c.260T>C (p.Val87Ala) c.254T>C (p.Val85Ala) | |
| 7 | g.44152377A>T | CA367402953 | GCK | c.*255T>A (n.*255T>A) c.257T>A (p.Val86Glu) n.743T>A c.260T>A (p.Val87Glu) c.254T>A (p.Val85Glu) | |
| 7 | g.44152378C>A | CA367402955 | GCK | c.*254G>T (n.*254G>T) c.256G>T (p.Val86Leu) n.742G>T c.259G>T (p.Val87Leu) c.253G>T (p.Val85Leu) | gnomAD v4 |
| 7 | g.44152378C>G | CA367402957 | GCK | c.*254G>C (n.*254G>C) c.256G>C (p.Val86Leu) n.742G>C c.259G>C (p.Val87Leu) c.253G>C (p.Val85Leu) | |
| 7 | g.44152378C>T | CA367402954 | GCK | c.*254G>A (n.*254G>A) c.256G>A (p.Val86Met) n.742G>A c.259G>A (p.Val87Met) c.253G>A (p.Val85Met) | |
| 7 | g.44152379_44152380del | CA2580077163 | GCK | c.*253_*254del (n.*253_*254del) c.255_256del (p.Arg85SerfsTer10) n.741_742del c.258_259del (p.Arg86SerfsTer10) c.252_253del (p.Arg84SerfsTer10) | ClinVar |
| 7 | g.44152379C>A | CA367402958 | GCK | c.*253G>T (n.*253G>T) c.255G>T (p.Arg85Ser) n.741G>T c.258G>T (p.Arg86Ser) c.252G>T (p.Arg84Ser) | ClinVar dbSNP |
| 7 | g.44152379C= | CA1703637069 | GCK | c.*253G= (n.*253G=) c.255G= (p.Arg85=) n.741G= c.258G= (p.Arg86=) c.252G= (p.Arg84=) | |
| 7 | g.44152379C>G | CA367402959 | GCK | c.*253G>C (n.*253G>C) c.255G>C (p.Arg85Ser) n.741G>C c.258G>C (p.Arg86Ser) c.252G>C (p.Arg84Ser) | |
| 7 | g.44152379C>T | CA454610288 | GCK | c.*253G>A (n.*253G>A) c.255G>A (p.Arg85=) n.741G>A c.258G>A (p.Arg86=) c.252G>A (p.Arg84=) | |
| 7 | g.44152380C>A | CA367402962 | GCK | c.*252G>T (n.*252G>T) c.254G>T (p.Arg85Met) n.740G>T c.257G>T (p.Arg86Met) c.251G>T (p.Arg84Met) | |
| 7 | g.44152380C>G | CA367402964 | GCK | c.*252G>C (n.*252G>C) c.254G>C (p.Arg85Thr) n.740G>C c.257G>C (p.Arg86Thr) c.251G>C (p.Arg84Thr) | |
| 7 | g.44152380C>T | CA367402965 | GCK | c.*252G>A (n.*252G>A) c.254G>A (p.Arg85Lys) n.740G>A c.257G>A (p.Arg86Lys) c.251G>A (p.Arg84Lys) | |
| 7 | g.44152381T>A | CA213773 | GCK | c.*251A>T (n.*251A>T) c.253A>T (p.Arg85Trp) n.739A>T c.256A>T (p.Arg86Trp) c.250A>T (p.Arg84Trp) | ClinVar dbSNP |
| 7 | g.44152381T>C | CA367402966 | GCK | c.*251A>G (n.*251A>G) c.253A>G (p.Arg85Gly) n.739A>G c.256A>G (p.Arg86Gly) c.250A>G (p.Arg84Gly) | |
| 7 | g.44152381T>G | CA454610293 | GCK | c.*251A>C (n.*251A>C) c.253A>C (p.Arg85=) n.739A>C c.256A>C (p.Arg86=) c.250A>C (p.Arg84=) | |
| 7 | g.44152381T= | CA1703637070 | GCK | c.*251A= (n.*251A=) c.253A= (p.Arg85=) n.739A= c.256A= (p.Arg86=) c.250A= (p.Arg84=) | |
| 7 | g.44152382G>A | CA454610296 | GCK | c.*250C>T (n.*250C>T) c.252C>T (p.Phe84=) n.738C>T c.255C>T (p.Phe85=) c.249C>T (p.Phe83=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44152382G>C | CA367402968 | GCK | c.*250C>G (n.*250C>G) c.252C>G (p.Phe84Leu) n.738C>G c.255C>G (p.Phe85Leu) c.249C>G (p.Phe83Leu) | |
| 7 | g.44152382G= | CA1703637071 | GCK | c.*250C= (n.*250C=) c.252C= (p.Phe84=) n.738C= c.255C= (p.Phe85=) c.249C= (p.Phe83=) | |
| 7 | g.44152382G>T | CA367402970 | GCK | c.*250C>A (n.*250C>A) c.252C>A (p.Phe84Leu) n.738C>A c.255C>A (p.Phe85Leu) c.249C>A (p.Phe83Leu) | |
| 7 | g.44152383A>C | CA367402971 | GCK | c.*249T>G (n.*249T>G) c.251T>G (p.Phe84Cys) n.737T>G c.254T>G (p.Phe85Cys) c.248T>G (p.Phe83Cys) | |
| 7 | g.44152383A>G | CA367402973 | GCK | c.*249T>C (n.*249T>C) c.251T>C (p.Phe84Ser) n.737T>C c.254T>C (p.Phe85Ser) c.248T>C (p.Phe83Ser) | ClinVar dbSNP |
| 7 | g.44152383A>T | CA367402975 | GCK | c.*249T>A (n.*249T>A) c.251T>A (p.Phe84Tyr) n.737T>A c.254T>A (p.Phe85Tyr) c.248T>A (p.Phe83Tyr) | |
| 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=) |