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.44149810_44149812dup | CA2580615881 | GCK | c.*628_*630dup (n.*628_*630dup) c.630_632dup (p.Met210_Ile211insMet) n.1116_1118dup c.633_635dup (p.Met211_Ile212insMet) c.627_629dup (p.Met209_Ile210insMet) c.579_581dup (p.Met193_Ile194insMet) | ClinVar |
| 7 | g.44149809C>A | CA213814 | GCK | c.*628G>T (n.*628G>T) c.630G>T (p.Met210Ile) n.1116G>T c.633G>T (p.Met211Ile) c.627G>T (p.Met209Ile) c.579G>T (p.Met193Ile) | ClinVar dbSNP |
| 7 | g.44149809C= | CA1703635872 | GCK | c.*628G= (n.*628G=) c.630G= (p.Met210=) n.1116G= c.633G= (p.Met211=) c.627G= (p.Met209=) c.579G= (p.Met193=) | |
| 7 | g.44149809C>G | CA367401294 | GCK | c.*628G>C (n.*628G>C) c.630G>C (p.Met210Ile) n.1116G>C c.633G>C (p.Met211Ile) c.627G>C (p.Met209Ile) c.579G>C (p.Met193Ile) | |
| 7 | g.44149809C>T | CA367401296 | GCK | c.*628G>A (n.*628G>A) c.630G>A (p.Met210Ile) n.1116G>A c.633G>A (p.Met211Ile) c.627G>A (p.Met209Ile) c.579G>A (p.Met193Ile) | ClinVar |
| 7 | g.44149810A= | CA1703635873 | GCK | c.*627T= (n.*627T=) c.629T= (p.Met210=) n.1115T= c.632T= (p.Met211=) c.626T= (p.Met209=) c.578T= (p.Met193=) | |
| 7 | g.44149810A>C | CA367401297 | GCK | c.*627T>G (n.*627T>G) c.629T>G (p.Met210Arg) n.1115T>G c.632T>G (p.Met211Arg) c.626T>G (p.Met209Arg) c.578T>G (p.Met193Arg) | |
| 7 | g.44149810A>G | CA367401300 | GCK | c.*627T>C (n.*627T>C) c.629T>C (p.Met210Thr) n.1115T>C c.632T>C (p.Met211Thr) c.626T>C (p.Met209Thr) c.578T>C (p.Met193Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44149810A>T | CA204367 | GCK | c.*627T>A (n.*627T>A) c.629T>A (p.Met210Lys) n.1115T>A c.632T>A (p.Met211Lys) c.626T>A (p.Met209Lys) c.578T>A (p.Met193Lys) | ClinVar dbSNP |
| 7 | g.44149811T>A | CA367401302 | GCK | c.*626A>T (n.*626A>T) c.628A>T (p.Met210Leu) n.1114A>T c.631A>T (p.Met211Leu) c.625A>T (p.Met209Leu) c.577A>T (p.Met193Leu) | |
| 7 | g.44149811T>C | CA367401305 | GCK | c.*626A>G (n.*626A>G) c.628A>G (p.Met210Val) n.1114A>G c.631A>G (p.Met211Val) c.625A>G (p.Met209Val) c.577A>G (p.Met193Val) | ClinVar |
| 7 | g.44149811T>G | CA367401303 | GCK | c.*626A>C (n.*626A>C) c.628A>C (p.Met210Leu) n.1114A>C c.631A>C (p.Met211Leu) c.625A>C (p.Met209Leu) c.577A>C (p.Met193Leu) | |
| 7 | g.44149811_44149812delinsCT | CA2018007653 | GCK | c.*625_*626delinsAG (n.*625_*626delinsAG) c.627_628delinsAG (p.Met210Val) n.1113_1114delinsAG c.630_631delinsAG (p.Met211Val) c.624_625delinsAG (p.Met209Val) c.576_577delinsAG (p.Met193Val) | ClinVar |
| 7 | g.44149812C>A | CA454609084 | GCK | c.*625G>T (n.*625G>T) c.627G>T (p.Thr209=) n.1113G>T c.630G>T (p.Thr210=) c.624G>T (p.Thr208=) c.576G>T (p.Thr192=) | |
| 7 | g.44149812C= | CA1703635874 | GCK | c.*625G= (n.*625G=) c.627G= (p.Thr209=) n.1113G= c.630G= (p.Thr210=) c.624G= (p.Thr208=) c.576G= (p.Thr192=) | |
| 7 | g.44149812C>G | CA454609083 | GCK | c.*625G>C (n.*625G>C) c.627G>C (p.Thr209=) n.1113G>C c.630G>C (p.Thr210=) c.624G>C (p.Thr208=) c.576G>C (p.Thr192=) | |
| 7 | g.44149812C>T | CA4239568 | GCK | c.*625G>A (n.*625G>A) c.627G>A (p.Thr209=) n.1113G>A c.630G>A (p.Thr210=) c.624G>A (p.Thr208=) c.576G>A (p.Thr192=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44149813G>A | CA367401309 | GCK | c.*624C>T (n.*624C>T) c.626C>T (p.Thr209Met) n.1112C>T c.629C>T (p.Thr210Met) c.623C>T (p.Thr208Met) c.575C>T (p.Thr192Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44149813G>C | CA367401307 | GCK | c.*624C>G (n.*624C>G) c.626C>G (p.Thr209Arg) n.1112C>G c.629C>G (p.Thr210Arg) c.623C>G (p.Thr208Arg) c.575C>G (p.Thr192Arg) | |
| 7 | g.44149813G= | CA1703635875 | GCK | c.*624C= (n.*624C=) c.626C= (p.Thr209=) n.1112C= c.629C= (p.Thr210=) c.623C= (p.Thr208=) c.575C= (p.Thr192=) | |
| 7 | g.44149813G>T | CA367401310 | GCK | c.*624C>A (n.*624C>A) c.626C>A (p.Thr209Lys) n.1112C>A c.629C>A (p.Thr210Lys) c.623C>A (p.Thr208Lys) c.575C>A (p.Thr192Lys) | |
| 7 | g.44149814T>A | CA367401312 | GCK | c.*623A>T (n.*623A>T) c.625A>T (p.Thr209Ser) n.1111A>T c.628A>T (p.Thr210Ser) c.622A>T (p.Thr208Ser) c.574A>T (p.Thr192Ser) | |
| 7 | g.44149814T>C | CA367401315 | GCK | c.*623A>G (n.*623A>G) c.625A>G (p.Thr209Ala) n.1111A>G c.628A>G (p.Thr210Ala) c.622A>G (p.Thr208Ala) c.574A>G (p.Thr192Ala) | |
| 7 | g.44149814T>G | CA367401314 | GCK | c.*623A>C (n.*623A>C) c.625A>C (p.Thr209Pro) n.1111A>C c.628A>C (p.Thr210Pro) c.622A>C (p.Thr208Pro) c.574A>C (p.Thr192Pro) | |
| 7 | g.44149815G>A | CA454609088 | GCK | c.*622C>T (n.*622C>T) c.624C>T (p.Ala208=) n.1110C>T c.627C>T (p.Ala209=) c.621C>T (p.Ala207=) c.573C>T (p.Ala191=) | |
| 7 | g.44149815G>C | CA454609092 | GCK | c.*622C>G (n.*622C>G) c.624C>G (p.Ala208=) n.1110C>G c.627C>G (p.Ala209=) c.621C>G (p.Ala207=) c.573C>G (p.Ala191=) | |
| 7 | g.44149815G>T | CA454609090 | GCK | c.*622C>A (n.*622C>A) c.624C>A (p.Ala208=) n.1110C>A c.627C>A (p.Ala209=) c.621C>A (p.Ala207=) c.573C>A (p.Ala191=) | |
| 7 | g.44149816G>A | CA4239569 | GCK | c.*621C>T (n.*621C>T) c.623C>T (p.Ala208Val) n.1109C>T c.626C>T (p.Ala209Val) c.620C>T (p.Ala207Val) c.572C>T (p.Ala191Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.44149816G>C | CA367401317 | GCK | c.*621C>G (n.*621C>G) c.623C>G (p.Ala208Gly) n.1109C>G c.626C>G (p.Ala209Gly) c.620C>G (p.Ala207Gly) c.572C>G (p.Ala191Gly) | |
| 7 | g.44149816G= | CA1703635876 | GCK | c.*621C= (n.*621C=) c.623C= (p.Ala208=) n.1109C= c.626C= (p.Ala209=) c.620C= (p.Ala207=) c.572C= (p.Ala191=) | |
| 7 | g.44149816G>T | CA367401318 | GCK | c.*621C>A (n.*621C>A) c.623C>A (p.Ala208Asp) n.1109C>A c.626C>A (p.Ala209Asp) c.620C>A (p.Ala207Asp) c.572C>A (p.Ala191Asp) | |
| 7 | g.44149817C>A | CA367401319 | GCK | c.*620G>T (n.*620G>T) c.622G>T (p.Ala208Ser) n.1108G>T c.625G>T (p.Ala209Ser) c.619G>T (p.Ala207Ser) c.571G>T (p.Ala191Ser) | gnomAD v4 |
| 7 | g.44149817C= | CA1703635877 | GCK | c.*620G= (n.*620G=) c.622G= (p.Ala208=) n.1108G= c.625G= (p.Ala209=) c.619G= (p.Ala207=) c.571G= (p.Ala191=) | |
| 7 | g.44149817C>G | CA367401320 | GCK | c.*620G>C (n.*620G>C) c.622G>C (p.Ala208Pro) n.1108G>C c.625G>C (p.Ala209Pro) c.619G>C (p.Ala207Pro) c.571G>C (p.Ala191Pro) | ClinVar |
| 7 | g.44149817C>T | CA367401322 | GCK | c.*620G>A (n.*620G>A) c.622G>A (p.Ala208Thr) n.1108G>A c.625G>A (p.Ala209Thr) c.619G>A (p.Ala207Thr) c.571G>A (p.Ala191Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44149818C>A | CA454609097 | GCK | c.*619G>T (n.*619G>T) c.621G>T (p.Val207=) n.1107G>T c.624G>T (p.Val208=) c.618G>T (p.Val206=) c.570G>T (p.Val190=) | |
| 7 | g.44149818C>G | CA454609098 | GCK | c.*619G>C (n.*619G>C) c.621G>C (p.Val207=) n.1107G>C c.624G>C (p.Val208=) c.618G>C (p.Val206=) c.570G>C (p.Val190=) | |
| 7 | g.44149818C>T | CA454609099 | GCK | c.*619G>A (n.*619G>A) c.621G>A (p.Val207=) n.1107G>A c.624G>A (p.Val208=) c.618G>A (p.Val206=) c.570G>A (p.Val190=) | gnomAD v4 |
| 7 | g.44149819A>C | CA367401323 | GCK | c.*618T>G (n.*618T>G) c.620T>G (p.Val207Gly) n.1106T>G c.623T>G (p.Val208Gly) c.617T>G (p.Val206Gly) c.569T>G (p.Val190Gly) | |
| 7 | g.44149819A>G | CA367401325 | GCK | c.*618T>C (n.*618T>C) c.620T>C (p.Val207Ala) n.1106T>C c.623T>C (p.Val208Ala) c.617T>C (p.Val206Ala) c.569T>C (p.Val190Ala) | |
| 7 | g.44149819A>T | CA367401327 | GCK | c.*618T>A (n.*618T>A) c.620T>A (p.Val207Glu) n.1106T>A c.623T>A (p.Val208Glu) c.617T>A (p.Val206Glu) c.569T>A (p.Val190Glu) | |
| 7 | g.44149820C>A | CA367401329 | GCK | c.*617G>T (n.*617G>T) c.619G>T (p.Val207Leu) n.1105G>T c.622G>T (p.Val208Leu) c.616G>T (p.Val206Leu) c.568G>T (p.Val190Leu) | |
| 7 | g.44149820C>G | CA367401330 | GCK | c.*617G>C (n.*617G>C) c.619G>C (p.Val207Leu) n.1105G>C c.622G>C (p.Val208Leu) c.616G>C (p.Val206Leu) c.568G>C (p.Val190Leu) | |
| 7 | g.44149820C>T | CA367401332 | GCK | c.*617G>A (n.*617G>A) c.619G>A (p.Val207Met) n.1105G>A c.622G>A (p.Val208Met) c.616G>A (p.Val206Met) c.568G>A (p.Val190Met) | |
| 7 | g.44149821C>A | CA454609106 | GCK | c.*616G>T (n.*616G>T) c.618G>T (p.Thr206=) n.1104G>T c.621G>T (p.Thr207=) c.615G>T (p.Thr205=) c.567G>T (p.Thr189=) | gnomAD v4 |
| 7 | g.44149821C= | CA1703635878 | GCK | c.*616G= (n.*616G=) c.618G= (p.Thr206=) n.1104G= c.621G= (p.Thr207=) c.615G= (p.Thr205=) c.567G= (p.Thr189=) | |
| 7 | g.44149821C>G | CA454609107 | GCK | c.*616G>C (n.*616G>C) c.618G>C (p.Thr206=) n.1104G>C c.621G>C (p.Thr207=) c.615G>C (p.Thr205=) c.567G>C (p.Thr189=) | |
| 7 | g.44149821C>T | CA152957 | GCK | c.*616G>A (n.*616G>A) c.618G>A (p.Thr206=) n.1104G>A c.621G>A (p.Thr207=) c.615G>A (p.Thr205=) c.567G>A (p.Thr189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44149822G>A | CA367401337 | GCK | c.*615C>T (n.*615C>T) c.617C>T (p.Thr206Met) n.1103C>T c.620C>T (p.Thr207Met) c.614C>T (p.Thr205Met) c.566C>T (p.Thr189Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |