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.44152339_44152360del | CA2695203001 | GCK | c.*276_*297del (n.*276_*297del) c.278_299del (p.Glu93AlafsTer2) n.764_785del c.281_302del (p.Glu94AlafsTer2) c.275_296del (p.Glu92AlafsTer2) | |
| 7 | g.44152358_44152367del | CA2695203006 | GCK | c.*272_*281del (n.*272_*281del) c.274_283del (p.Gly92ArgfsTer7) n.760_769del c.277_286del (p.Gly93ArgfsTer7) c.271_280del (p.Gly91ArgfsTer7) | |
| 7 | g.44152361_44152370del | CA2695203007 | GCK | c.*264_*273del (n.*264_*273del) c.266_275del (p.Val89GlufsTer10) n.752_761del c.269_278del (p.Val90GlufsTer10) c.263_272del (p.Val88GlufsTer10) | |
| 7 | g.44152360C>A | CA367402880 | GCK | c.*272G>T (n.*272G>T) c.274G>T (p.Gly92Ter) n.760G>T c.277G>T (p.Gly93Ter) c.271G>T (p.Gly91Ter) | |
| 7 | g.44152360C>G | CA367402881 | GCK | c.*272G>C (n.*272G>C) c.274G>C (p.Gly92Arg) n.760G>C c.277G>C (p.Gly93Arg) c.271G>C (p.Gly91Arg) | |
| 7 | g.44152360C>T | CA367402883 | GCK | c.*272G>A (n.*272G>A) c.274G>A (p.Gly92Arg) n.760G>A c.277G>A (p.Gly93Arg) c.271G>A (p.Gly91Arg) | |
| 7 | g.44152361C>A | CA454610264 | GCK | c.*271G>T (n.*271G>T) c.273G>T (p.Val91=) n.759G>T c.276G>T (p.Val92=) c.270G>T (p.Val90=) | |
| 7 | g.44152361C>G | CA454610265 | GCK | c.*271G>C (n.*271G>C) c.273G>C (p.Val91=) n.759G>C c.276G>C (p.Val92=) c.270G>C (p.Val90=) | |
| 7 | g.44152361C>T | CA454610266 | GCK | c.*271G>A (n.*271G>A) c.273G>A (p.Val91=) n.759G>A c.276G>A (p.Val92=) c.270G>A (p.Val90=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44152362A>C | CA367402885 | GCK | c.*270T>G (n.*270T>G) c.272T>G (p.Val91Gly) n.758T>G c.275T>G (p.Val92Gly) c.269T>G (p.Val90Gly) | |
| 7 | g.44152362A>G | CA367402886 | GCK | c.*270T>C (n.*270T>C) c.272T>C (p.Val91Ala) n.758T>C c.275T>C (p.Val92Ala) c.269T>C (p.Val90Ala) | |
| 7 | g.44152362A>T | CA367402888 | GCK | c.*270T>A (n.*270T>A) c.272T>A (p.Val91Glu) n.758T>A c.275T>A (p.Val92Glu) c.269T>A (p.Val90Glu) | |
| 7 | g.44152363C>A | CA367402890 | GCK | c.*269G>T (n.*269G>T) c.271G>T (p.Val91Leu) n.757G>T c.274G>T (p.Val92Leu) c.268G>T (p.Val90Leu) | |
| 7 | g.44152363C>G | CA367402892 | GCK | c.*269G>C (n.*269G>C) c.271G>C (p.Val91Leu) n.757G>C c.274G>C (p.Val92Leu) c.268G>C (p.Val90Leu) | |
| 7 | g.44152363C>T | CA367402893 | GCK | c.*269G>A (n.*269G>A) c.271G>A (p.Val91Met) n.757G>A c.274G>A (p.Val92Met) c.268G>A (p.Val90Met) | gnomAD v4 |
| 7 | g.44152364C>A | CA367402895 | GCK | c.*268G>T (n.*268G>T) c.270G>T (p.Lys90Asn) n.756G>T c.273G>T (p.Lys91Asn) c.267G>T (p.Lys89Asn) | |
| 7 | g.44152364C= | CA1703637066 | GCK | c.*268G= (n.*268G=) c.270G= (p.Lys90=) n.756G= c.273G= (p.Lys91=) c.267G= (p.Lys89=) | |
| 7 | g.44152364C>G | CA367402896 | GCK | c.*268G>C (n.*268G>C) c.270G>C (p.Lys90Asn) n.756G>C c.273G>C (p.Lys91Asn) c.267G>C (p.Lys89Asn) | |
| 7 | g.44152364C>T | CA4239683 | GCK | c.*268G>A (n.*268G>A) c.270G>A (p.Lys90=) n.756G>A c.273G>A (p.Lys91=) c.267G>A (p.Lys89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152365T>A | CA367402901 | GCK | c.*267A>T (n.*267A>T) c.269A>T (p.Lys90Met) n.755A>T c.272A>T (p.Lys91Met) c.266A>T (p.Lys89Met) | |
| 7 | g.44152365T>C | CA367402903 | GCK | c.*267A>G (n.*267A>G) c.269A>G (p.Lys90Arg) n.755A>G c.272A>G (p.Lys91Arg) c.266A>G (p.Lys89Arg) | |
| 7 | g.44152365T>G | CA367402900 | GCK | c.*267A>C (n.*267A>C) c.269A>C (p.Lys90Thr) n.755A>C c.272A>C (p.Lys91Thr) c.266A>C (p.Lys89Thr) | ClinVar dbSNP |
| 7 | g.44152366T>A | CA367402908 | GCK | c.*266A>T (n.*266A>T) c.268A>T (p.Lys90Ter) n.754A>T c.271A>T (p.Lys91Ter) c.265A>T (p.Lys89Ter) | |
| 7 | g.44152366T>C | CA367402905 | GCK | c.*266A>G (n.*266A>G) c.268A>G (p.Lys90Glu) n.754A>G c.271A>G (p.Lys91Glu) c.265A>G (p.Lys89Glu) | |
| 7 | g.44152366T>G | CA367402906 | GCK | c.*266A>C (n.*266A>C) c.268A>C (p.Lys90Gln) n.754A>C c.271A>C (p.Lys91Gln) c.265A>C (p.Lys89Gln) | |
| 7 | g.44152367C>A | CA454610267 | GCK | c.*265G>T (n.*265G>T) c.267G>T (p.Val89=) n.753G>T c.270G>T (p.Val90=) c.264G>T (p.Val88=) | COSMIC COSMIC COSMIC |
| 7 | g.44152367C>G | CA454610268 | GCK | c.*265G>C (n.*265G>C) c.267G>C (p.Val89=) n.753G>C c.270G>C (p.Val90=) c.264G>C (p.Val88=) | |
| 7 | g.44152367C>T | CA454610269 | GCK | c.*265G>A (n.*265G>A) c.267G>A (p.Val89=) n.753G>A c.270G>A (p.Val90=) c.264G>A (p.Val88=) | gnomAD v4 |
| 7 | g.44152368A>C | CA367402909 | GCK | c.*264T>G (n.*264T>G) c.266T>G (p.Val89Gly) n.752T>G c.269T>G (p.Val90Gly) c.263T>G (p.Val88Gly) | |
| 7 | g.44152368A>G | CA367402910 | GCK | c.*264T>C (n.*264T>C) c.266T>C (p.Val89Ala) n.752T>C c.269T>C (p.Val90Ala) c.263T>C (p.Val88Ala) | |
| 7 | g.44152368A>T | CA367402914 | GCK | c.*264T>A (n.*264T>A) c.266T>A (p.Val89Glu) n.752T>A c.269T>A (p.Val90Glu) c.263T>A (p.Val88Glu) | |
| 7 | g.44152369C>A | CA367402916 | GCK | c.*263G>T (n.*263G>T) c.265G>T (p.Val89Leu) n.751G>T c.268G>T (p.Val90Leu) c.262G>T (p.Val88Leu) | |
| 7 | g.44152369C>G | CA367402918 | GCK | c.*263G>C (n.*263G>C) c.265G>C (p.Val89Leu) n.751G>C c.268G>C (p.Val90Leu) c.262G>C (p.Val88Leu) | |
| 7 | g.44152369C>T | CA367402921 | GCK | c.*263G>A (n.*263G>A) c.265G>A (p.Val89Met) n.751G>A c.268G>A (p.Val90Met) c.262G>A (p.Val88Met) | |
| 7 | g.44152370C>A | CA454610270 | GCK | c.*262G>T (n.*262G>T) c.264G>T (p.Leu88=) n.750G>T c.267G>T (p.Leu89=) c.261G>T (p.Leu87=) | gnomAD v4 |
| 7 | g.44152370C= | CA1703637067 | GCK | c.*262G= (n.*262G=) c.264G= (p.Leu88=) n.750G= c.267G= (p.Leu89=) c.261G= (p.Leu87=) | |
| 7 | g.44152370C>G | CA454610271 | GCK | c.*262G>C (n.*262G>C) c.264G>C (p.Leu88=) n.750G>C c.267G>C (p.Leu89=) c.261G>C (p.Leu87=) | |
| 7 | g.44152370C>T | CA4239684 | GCK | c.*262G>A (n.*262G>A) c.264G>A (p.Leu88=) n.750G>A c.267G>A (p.Leu89=) c.261G>A (p.Leu87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152370_44152371insCATGCACAGATGTAACTGGCAGGCCACTTTGCT | CA2682576254 | GCK | c.*261_*262insAGCAAAGTGGCCTGCCAGTTACATCTGTGCATG (n.*261_*262insAGCAAAGTGGCCTGCCAGTTACATCTGTGCATG) c.263_264insAGCAAAGTGGCCTGCCAGTTACATCTGTGCATG (p.Leu88_Val89insAlaLysTrpProAlaSerTyrIleCysAlaTrp) n.749_750insAGCAAAGTGGCCTGCCAGTTACATCTGTGCATG c.266_267insAGCAAAGTGGCCTGCCAGTTACATCTGTGCATG (p.Leu89_Val90insAlaLysTrpProAlaSerTyrIleCysAlaTrp) c.260_261insAGCAAAGTGGCCTGCCAGTTACATCTGTGCATG (p.Leu87_Val88insAlaLysTrpProAlaSerTyrIleCysAlaTrp) | gnomAD v4 |
| 7 | g.44152371A>C | CA367402924 | GCK | c.*261T>G (n.*261T>G) c.263T>G (p.Leu88Arg) n.749T>G c.266T>G (p.Leu89Arg) c.260T>G (p.Leu87Arg) | |
| 7 | g.44152371A>G | CA367402925 | GCK | c.*261T>C (n.*261T>C) c.263T>C (p.Leu88Pro) n.749T>C c.266T>C (p.Leu89Pro) c.260T>C (p.Leu87Pro) | |
| 7 | g.44152371A>T | CA367402927 | GCK | c.*261T>A (n.*261T>A) c.263T>A (p.Leu88Gln) n.749T>A c.266T>A (p.Leu89Gln) c.260T>A (p.Leu87Gln) | |
| 7 | g.44152372G>A | CA454610273 | GCK | c.*260C>T (n.*260C>T) c.262C>T (p.Leu88=) n.748C>T c.265C>T (p.Leu89=) c.259C>T (p.Leu87=) | gnomAD v4 |
| 7 | g.44152372G>C | CA367402931 | GCK | c.*260C>G (n.*260C>G) c.262C>G (p.Leu88Val) n.748C>G c.265C>G (p.Leu89Val) c.259C>G (p.Leu87Val) | |
| 7 | g.44152372G>T | CA367402929 | GCK | c.*260C>A (n.*260C>A) c.262C>A (p.Leu88Met) n.748C>A c.265C>A (p.Leu89Met) c.259C>A (p.Leu87Met) | |
| 7 | g.44152373C>A | CA367402934 | GCK | c.*259G>T (n.*259G>T) c.261G>T (p.Met87Ile) n.747G>T c.264G>T (p.Met88Ile) c.258G>T (p.Met86Ile) | |
| 7 | g.44152373C>G | CA367402936 | GCK | c.*259G>C (n.*259G>C) c.261G>C (p.Met87Ile) n.747G>C c.264G>C (p.Met88Ile) c.258G>C (p.Met86Ile) | |
| 7 | g.44152373C>T | CA367402937 | GCK | c.*259G>A (n.*259G>A) c.261G>A (p.Met87Ile) n.747G>A c.264G>A (p.Met88Ile) c.258G>A (p.Met86Ile) | |
| 7 | g.44152374A>C | CA367402939 | GCK | c.*258T>G (n.*258T>G) c.260T>G (p.Met87Arg) n.746T>G c.263T>G (p.Met88Arg) c.257T>G (p.Met86Arg) |