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 |
|---|---|---|---|---|---|
| 19 | g.7267627C>A | CA403159635 | INSR | c.370G>T (p.Glu124Ter) n.345G>T c.448G>T (p.Glu150Ter) | |
| 19 | g.7267627C= | CA2320836486 | INSR | c.370G= (p.Glu124=) n.345G= c.448G= (p.Glu150=) | |
| 19 | g.7267627C>G | CA403159636 | INSR | c.370G>C (p.Glu124Gln) n.345G>C c.448G>C (p.Glu150Gln) | |
| 19 | g.7267627C>T | CA304648013 | INSR | c.370G>A (p.Glu124Lys) n.345G>A c.448G>A (p.Glu150Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267628G>A | CA505481874 | INSR | c.369C>T (p.Phe123=) n.344C>T c.447C>T (p.Phe149=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267628G>C | CA403159638 | INSR | c.369C>G (p.Phe123Leu) n.344C>G c.447C>G (p.Phe149Leu) | |
| 19 | g.7267628G= | CA2320836487 | INSR | c.369C= (p.Phe123=) n.344C= c.447C= (p.Phe149=) | |
| 19 | g.7267628G>T | CA403159637 | INSR | c.369C>A (p.Phe123Leu) n.344C>A c.447C>A (p.Phe149Leu) | |
| 19 | g.7267629A>C | CA403159639 | INSR | c.368T>G (p.Phe123Cys) n.343T>G c.446T>G (p.Phe149Cys) | |
| 19 | g.7267629A>G | CA403159640 | INSR | c.368T>C (p.Phe123Ser) n.343T>C c.446T>C (p.Phe149Ser) | |
| 19 | g.7267629A>T | CA403159641 | INSR | c.368T>A (p.Phe123Tyr) n.343T>A c.446T>A (p.Phe149Tyr) | |
| 19 | g.7267629_7267630insGGACTCCCTCGGAATGATAGCCCGGGAGTTAGTCTGCAAATA | CA2569019124 | INSR | c.368_369insATTTGCAGACTAACTCCCGGGCTATCATTCCGAGGGAGTCCT (p.Phe123LeufsTer5) n.343_344insATTTGCAGACTAACTCCCGGGCTATCATTCCGAGGGAGTCCT c.446_447insATTTGCAGACTAACTCCCGGGCTATCATTCCGAGGGAGTCCT (p.Phe149LeufsTer5) | |
| 19 | g.7267630A>C | CA403159642 | INSR | c.367T>G (p.Phe123Val) n.342T>G c.445T>G (p.Phe149Val) | |
| 19 | g.7267630A>G | CA403159643 | INSR | c.367T>C (p.Phe123Leu) n.342T>C c.445T>C (p.Phe149Leu) | |
| 19 | g.7267630A>T | CA403159644 | INSR | c.367T>A (p.Phe123Ile) n.342T>A c.445T>A (p.Phe149Ile) | |
| 19 | g.7267631G>A | CA505481875 | INSR | c.366C>T (p.Ile122=) n.341C>T c.444C>T (p.Ile148=) | |
| 19 | g.7267631G>C | CA403159645 | INSR | c.366C>G (p.Ile122Met) n.341C>G c.444C>G (p.Ile148Met) | |
| 19 | g.7267631G>T | CA505481876 | INSR | c.366C>A (p.Ile122=) n.341C>A c.444C>A (p.Ile148=) | |
| 19 | g.7267632A>C | CA403159646 | INSR | c.365T>G (p.Ile122Ser) n.340T>G c.443T>G (p.Ile148Ser) | |
| 19 | g.7267632A>G | CA403159647 | INSR | c.365T>C (p.Ile122Thr) n.340T>C c.443T>C (p.Ile148Thr) | |
| 19 | g.7267632A>T | CA403159648 | INSR | c.365T>A (p.Ile122Asn) n.340T>A c.443T>A (p.Ile148Asn) | |
| 19 | g.7267633T>A | CA403159896 | INSR | c.364A>T (p.Ile122Phe) n.339A>T c.442A>T (p.Ile148Phe) | |
| 19 | g.7267633T>C | CA403159897 | INSR | c.364A>G (p.Ile122Val) n.339A>G c.442A>G (p.Ile148Val) | |
| 19 | g.7267633T>G | CA403159898 | INSR | c.364A>C (p.Ile122Leu) n.339A>C c.442A>C (p.Ile148Leu) | |
| 19 | g.7267633_7267634insTCGGTGTGAAAATGATGGATTGAAGCGCCATGCAAGCACCCTTATGCTGTGAAGCTGATTTAGTCTGCAAATAAGAAGCAGCCT | CA2501115231 | INSR | c.364_365insGGCTGCTTCTTATTTGCAGACTAAATCAGCTTCACAGCATAAGGGTGCTTGCATGGCGCTTCAATCCATCATTTTCACACCGAA (p.Val121_Ile122insArgLeuLeuLeuIleCysArgLeuAsnGlnLeuHisSerIleArgValLeuAlaTrpArgPheAsnProSerPheSerHisArg) n.339_340insGGCTGCTTCTTATTTGCAGACTAAATCAGCTTCACAGCATAAGGGTGCTTGCATGGCGCTTCAATCCATCATTTTCACACCGAA c.442_443insGGCTGCTTCTTATTTGCAGACTAAATCAGCTTCACAGCATAAGGGTGCTTGCATGGCGCTTCAATCCATCATTTTCACACCGAA (p.Val147_Ile148insArgLeuLeuLeuIleCysArgLeuAsnGlnLeuHisSerIleArgValLeuAlaTrpArgPheAsnProSerPheSerHisArg) | |
| 19 | g.7267634G>A | CA505481923 | INSR | c.363C>T (p.Val121=) n.338C>T c.441C>T (p.Val147=) | |
| 19 | g.7267634G>C | CA505481924 | INSR | c.363C>G (p.Val121=) n.338C>G c.441C>G (p.Val147=) | |
| 19 | g.7267634G>T | CA505481925 | INSR | c.363C>A (p.Val121=) n.338C>A c.441C>A (p.Val147=) | |
| 19 | g.7267635A>C | CA403159900 | INSR | c.362T>G (p.Val121Gly) n.337T>G c.440T>G (p.Val147Gly) | |
| 19 | g.7267635A>G | CA403159901 | INSR | c.362T>C (p.Val121Ala) n.337T>C c.440T>C (p.Val147Ala) | |
| 19 | g.7267635A>T | CA403159899 | INSR | c.362T>A (p.Val121Asp) n.337T>A c.440T>A (p.Val147Asp) | |
| 19 | g.7267636C>A | CA403159902 | INSR | c.361G>T (p.Val121Phe) n.336G>T c.439G>T (p.Val147Phe) | |
| 19 | g.7267636C>G | CA403159904 | INSR | c.361G>C (p.Val121Leu) n.336G>C c.439G>C (p.Val147Leu) | |
| 19 | g.7267636C>T | CA403159903 | INSR | c.361G>A (p.Val121Ile) n.336G>A c.439G>A (p.Val147Ile) | |
| 19 | g.7267637C>A | CA505481929 | INSR | c.360G>T (p.Leu120=) n.335G>T c.438G>T (p.Leu146=) | |
| 19 | g.7267637C>G | CA505481930 | INSR | c.360G>C (p.Leu120=) n.335G>C c.438G>C (p.Leu146=) | |
| 19 | g.7267637C>T | CA505481931 | INSR | c.360G>A (p.Leu120=) n.335G>A c.438G>A (p.Leu146=) | |
| 19 | g.7267638A>C | CA403159905 | INSR | c.359T>G (p.Leu120Arg) n.334T>G c.437T>G (p.Leu146Arg) | |
| 19 | g.7267638A>G | CA403159906 | INSR | c.359T>C (p.Leu120Pro) n.334T>C c.437T>C (p.Leu146Pro) | gnomAD v3 gnomAD v4 |
| 19 | g.7267638A>T | CA403159907 | INSR | c.359T>A (p.Leu120Gln) n.334T>A c.437T>A (p.Leu146Gln) | |
| 19 | g.7267639G>A | CA505481932 | INSR | c.358C>T (p.Leu120=) n.333C>T c.436C>T (p.Leu146=) | gnomAD v4 |
| 19 | g.7267639G>C | CA403159908 | INSR | c.358C>G (p.Leu120Val) n.333C>G c.436C>G (p.Leu146Val) | |
| 19 | g.7267639G>T | CA403159909 | INSR | c.358C>A (p.Leu120Met) n.333C>A c.436C>A (p.Leu146Met) | |
| 19 | g.7267640C>A | CA505481935 | INSR | c.357G>T (p.Ala119=) n.332G>T c.435G>T (p.Ala145=) | gnomAD v4 |
| 19 | g.7267640C= | CA2320836488 | INSR | c.357G= (p.Ala119=) n.332G= c.435G= (p.Ala145=) | |
| 19 | g.7267640C>G | CA505481933 | INSR | c.357G>C (p.Ala119=) n.332G>C c.435G>C (p.Ala145=) | dbSNP |
| 19 | g.7267640C>T | CA9136132 | INSR | c.357G>A (p.Ala119=) n.332G>A c.435G>A (p.Ala145=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.7267641G>A | CA403159910 | INSR | c.356C>T (p.Ala119Val) n.331C>T c.434C>T (p.Ala145Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267641G>C | CA403159911 | INSR | c.356C>G (p.Ala119Gly) n.331C>G c.434C>G (p.Ala145Gly) | |
| 19 | g.7267641G= | CA2320836489 | INSR | c.356C= (p.Ala119=) n.331C= c.434C= (p.Ala145=) |