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 |
|---|---|---|---|---|---|
| 8 | g.132897728_132897729delinsTG | CA2739269003 | TG | c.3081_3082delinsTG (p.Met1028Val) c.40_41delinsTG c.2820_2821delinsTG (p.Met941Val) | ClinVar |
| 8 | g.132897729A= | CA1820995312 | TG | c.3082A= (p.Met1028=) c.41A= c.2821A= (p.Met941=) | |
| 8 | g.132897729A>C | CA372240156 | TG | c.3082A>C (p.Met1028Leu) c.41A>C c.2821A>C (p.Met941Leu) | |
| 8 | g.132897729A>G | CA122638 | TG | c.3082A>G (p.Met1028Val) c.41A>G c.2821A>G (p.Met941Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132897729A>T | CA372240160 | TG | c.3082A>T (p.Met1028Leu) c.41A>T c.2821A>T (p.Met941Leu) | |
| 8 | g.132897730T>A | CA4883612 | TG | c.3083T>A (p.Met1028Lys) c.42T>A c.2822T>A (p.Met941Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132897730T>C | CA372240166 | TG | c.3083T>C (p.Met1028Thr) c.42T>C c.2822T>C (p.Met941Thr) | gnomAD v4 |
| 8 | g.132897730T>G | CA372240163 | TG | c.3083T>G (p.Met1028Arg) c.42T>G c.2822T>G (p.Met941Arg) | |
| 8 | g.132897730T= | CA1820995313 | TG | c.3083T= (p.Met1028=) c.42T= c.2822T= (p.Met941=) | |
| 8 | g.132897731G>A | CA372240172 | TG | c.3084G>A (p.Met1028Ile) c.43G>A c.2823G>A (p.Met941Ile) | |
| 8 | g.132897731G>C | CA372240175 | TG | c.3084G>C (p.Met1028Ile) c.43G>C c.2823G>C (p.Met941Ile) | |
| 8 | g.132897731G= | CA1820995314 | TG | c.3084G= (p.Met1028=) c.43G= c.2823G= (p.Met941=) | |
| 8 | g.132897731G>T | CA372240177 | TG | c.3084G>T (p.Met1028Ile) c.43G>T c.2823G>T (p.Met941Ile) | |
| 8 | g.132897732C>A | CA372240187 | TG | c.3085C>A (p.Pro1029Thr) c.44C>A c.2824C>A (p.Pro942Thr) | |
| 8 | g.132897732C= | CA1820995315 | TG | c.3085C= (p.Pro1029=) c.44C= c.2824C= (p.Pro942=) | |
| 8 | g.132897732C>G | CA372240189 | TG | c.3085C>G (p.Pro1029Ala) c.44C>G c.2824C>G (p.Pro942Ala) | |
| 8 | g.132897732C>T | CA4883613 | TG | c.3085C>T (p.Pro1029Ser) c.44C>T c.2824C>T (p.Pro942Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132897733dup | CA186291928 | TG | c.3086dup (p.Gln1030ThrfsTer3) c.45dup c.2825dup (p.Gln943ThrfsTer3) | dbSNP |
| 8 | g.132897733C>A | CA372240190 | TG | c.3086C>A (p.Pro1029Gln) c.45C>A c.2825C>A (p.Pro942Gln) | |
| 8 | g.132897733C= | CA1820995316 | TG | c.3086C= (p.Pro1029=) c.45C= c.2825C= (p.Pro942=) | |
| 8 | g.132897733C>G | CA372240191 | TG | c.3086C>G (p.Pro1029Arg) c.45C>G c.2825C>G (p.Pro942Arg) | |
| 8 | g.132897733C>T | CA372240192 | TG | c.3086C>T (p.Pro1029Leu) c.45C>T c.2825C>T (p.Pro942Leu) | dbSNP |
| 8 | g.132897735_132897736del | CA2688649323 | TG | c.3088_3089del (p.Gln1030ValfsTer2) c.47_48del c.2827_2828del (p.Gln943ValfsTer2) | gnomAD v4 |
| 8 | g.132897734A>C | CA463008845 | TG | c.3087A>C (p.Pro1029=) n.1A>C c.46A>C c.2826A>C (p.Pro942=) | |
| 8 | g.132897734A>G | CA463008846 | TG | c.3087A>G (p.Pro1029=) n.1A>G c.46A>G c.2826A>G (p.Pro942=) | |
| 8 | g.132897734A>T | CA463008848 | TG | c.3087A>T (p.Pro1029=) n.1A>T c.46A>T c.2826A>T (p.Pro942=) | COSMIC |
| 8 | g.132897735C>A | CA372240195 | TG | c.3088C>A (p.Gln1030Lys) n.2C>A c.47C>A c.2827C>A (p.Gln943Lys) | |
| 8 | g.132897735C>G | CA372240196 | TG | c.3088C>G (p.Gln1030Glu) n.2C>G c.47C>G c.2827C>G (p.Gln943Glu) | |
| 8 | g.132897735C>T | CA372240200 | TG | c.3088C>T (p.Gln1030Ter) n.2C>T c.47C>T c.2827C>T (p.Gln943Ter) | gnomAD v4 |
| 8 | g.132897736A>C | CA372240203 | TG | c.3089A>C (p.Gln1030Pro) n.3A>C c.48A>C c.2828A>C (p.Gln943Pro) | |
| 8 | g.132897736A>G | CA372240206 | TG | c.3089A>G (p.Gln1030Arg) n.3A>G c.48A>G c.2828A>G (p.Gln943Arg) | gnomAD v4 |
| 8 | g.132897736A>T | CA372240201 | TG | c.3089A>T (p.Gln1030Leu) n.3A>T c.48A>T c.2828A>T (p.Gln943Leu) | |
| 8 | g.132897737G>A | CA4883614 | TG | c.3090G>A (p.Gln1030=) n.4G>A c.49G>A c.2829G>A (p.Gln943=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132897737G>C | CA372240214 | TG | c.3090G>C (p.Gln1030His) n.4G>C c.49G>C c.2829G>C (p.Gln943His) | |
| 8 | g.132897737G= | CA1820995317 | TG | c.3090G= (p.Gln1030=) n.4G= c.49G= c.2829G= (p.Gln943=) | |
| 8 | g.132897737G>T | CA372240217 | TG | c.3090G>T (p.Gln1030His) n.4G>T c.49G>T c.2829G>T (p.Gln943His) | |
| 8 | g.132897738T>A | CA372240221 | TG | c.3091T>A (p.Cys1031Ser) n.5T>A c.50T>A c.2830T>A (p.Cys944Ser) | |
| 8 | g.132897738T>C | CA372240224 | TG | c.3091T>C (p.Cys1031Arg) n.5T>C c.50T>C c.2830T>C (p.Cys944Arg) | |
| 8 | g.132897738T>G | CA372240232 | TG | c.3091T>G (p.Cys1031Gly) n.5T>G c.50T>G c.2830T>G (p.Cys944Gly) | |
| 8 | g.132897739G>A | CA372240241 | TG | c.3092G>A (p.Cys1031Tyr) n.6G>A c.51G>A c.2831G>A (p.Cys944Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132897739G>C | CA372240234 | TG | c.3092G>C (p.Cys1031Ser) n.6G>C c.51G>C c.2831G>C (p.Cys944Ser) | |
| 8 | g.132897739G= | CA1820995318 | TG | c.3092G= (p.Cys1031=) n.6G= c.51G= c.2831G= (p.Cys944=) | |
| 8 | g.132897739G>T | CA372240236 | TG | c.3092G>T (p.Cys1031Phe) n.6G>T c.51G>T c.2831G>T (p.Cys944Phe) | dbSNP |
| 8 | g.132897740T>A | CA372240242 | TG | c.3093T>A (p.Cys1031Ter) n.7T>A c.52T>A c.2832T>A (p.Cys944Ter) | |
| 8 | g.132897740T>C | CA463008869 | TG | c.3093T>C (p.Cys1031=) n.7T>C c.52T>C c.2832T>C (p.Cys944=) | |
| 8 | g.132897740T>G | CA372240243 | TG | c.3093T>G (p.Cys1031Trp) n.7T>G c.52T>G c.2832T>G (p.Cys944Trp) | |
| 8 | g.132897741G>A | CA372240244 | TG | c.3094G>A (p.Asp1032Asn) n.8G>A c.53G>A c.2833G>A (p.Asp945Asn) | |
| 8 | g.132897741G>C | CA372240245 | TG | c.3094G>C (p.Asp1032His) n.8G>C c.53G>C c.2833G>C (p.Asp945His) | |
| 8 | g.132897741G>T | CA372240247 | TG | c.3094G>T (p.Asp1032Tyr) n.8G>T c.53G>T c.2833G>T (p.Asp945Tyr) | |
| 8 | g.132897742A= | CA1820995319 | TG | c.3095A= (p.Asp1032=) n.9A= c.54A= c.2834A= (p.Asp945=) |