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 |
|---|---|---|---|---|---|
| 20 | g.46725333_46725337del | CA2653170735 | SLC2A10 | c.297_301del (p.Trp100GlyfsTer?) n.449_453del c.360_364del (p.Trp121GlyfsTer?) c.306_310del (p.Trp103GlyfsTer?) n.496_500del n.483_487del | gnomAD v4 |
| 20 | g.46725331_46725341delinsGCCTGGCTGGT | CA2366796145 | SLC2A10 | c.295_305delinsGCCTGGCTGGT (p.Ala99=) n.447_457delinsGCCTGGCTGGT c.358_368delinsGCCTGGCTGGT (p.Ala120=) c.304_314delinsGCCTGGCTGGT (p.Ala102=) n.494_504delinsGCCTGGCTGGT n.481_491delinsGCCTGGCTGGT | |
| 20 | g.46725337_46725346del | CA2366796146 | SLC2A10 | c.301_310del (p.Leu101AlafsTer?) n.453_462del c.364_373del (p.Leu122AlafsTer?) c.310_319del (p.Leu104AlafsTer?) n.500_509del n.487_496del | dbSNP |
| 20 | g.46725335G>A | CA409266740 | SLC2A10 | c.299G>A (p.Trp100Ter) n.451G>A c.362G>A (p.Trp121Ter) c.308G>A (p.Trp103Ter) n.498G>A n.485G>A | dbSNP |
| 20 | g.46725335G>C | CA409266741 | SLC2A10 | c.299G>C (p.Trp100Ser) n.451G>C c.362G>C (p.Trp121Ser) c.308G>C (p.Trp103Ser) n.498G>C n.485G>C | |
| 20 | g.46725335G= | CA2366796149 | SLC2A10 | c.299G= (p.Trp100=) n.451G= c.362G= (p.Trp121=) c.308G= (p.Trp103=) n.498G= n.485G= | |
| 20 | g.46725335G>T | CA409266742 | SLC2A10 | c.299G>T (p.Trp100Leu) n.451G>T c.362G>T (p.Trp121Leu) c.308G>T (p.Trp103Leu) n.498G>T n.485G>T | |
| 20 | g.46725336G>A | CA409266743 | SLC2A10 | c.300G>A (p.Trp100Ter) n.452G>A c.363G>A (p.Trp121Ter) c.309G>A (p.Trp103Ter) n.499G>A n.486G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725336G>C | CA10649790 | SLC2A10 | c.300G>C (p.Trp100Cys) n.452G>C c.363G>C (p.Trp121Cys) c.309G>C (p.Trp103Cys) n.499G>C n.486G>C | ClinVar dbSNP |
| 20 | g.46725336G= | CA2366796150 | SLC2A10 | c.300G= (p.Trp100=) n.452G= c.363G= (p.Trp121=) c.309G= (p.Trp103=) n.499G= n.486G= | |
| 20 | g.46725336G>T | CA409266744 | SLC2A10 | c.300G>T (p.Trp100Cys) n.452G>T c.363G>T (p.Trp121Cys) c.309G>T (p.Trp103Cys) n.499G>T n.486G>T | |
| 20 | g.46725337C>A | CA409266745 | SLC2A10 | c.301C>A (p.Leu101Met) n.453C>A c.364C>A (p.Leu122Met) c.310C>A (p.Leu104Met) n.500C>A n.487C>A | |
| 20 | g.46725337C>G | CA409266746 | SLC2A10 | c.301C>G (p.Leu101Val) n.453C>G c.364C>G (p.Leu122Val) c.310C>G (p.Leu104Val) n.500C>G n.487C>G | |
| 20 | g.46725337C>T | CA510847533 | SLC2A10 | c.301C>T (p.Leu101=) n.453C>T c.364C>T (p.Leu122=) c.310C>T (p.Leu104=) n.500C>T n.487C>T | |
| 20 | g.46725338T>A | CA409266747 | SLC2A10 | c.302T>A (p.Leu101Gln) n.454T>A c.365T>A (p.Leu122Gln) c.311T>A (p.Leu104Gln) n.501T>A n.488T>A | |
| 20 | g.46725338T>C | CA409266748 | SLC2A10 | c.302T>C (p.Leu101Pro) n.454T>C c.365T>C (p.Leu122Pro) c.311T>C (p.Leu104Pro) n.501T>C n.488T>C | |
| 20 | g.46725338T>G | CA409266749 | SLC2A10 | c.302T>G (p.Leu101Arg) n.454T>G c.365T>G (p.Leu122Arg) c.311T>G (p.Leu104Arg) n.501T>G n.488T>G | |
| 20 | g.46725339G>A | CA9891951 | SLC2A10 | c.303G>A (p.Leu101=) n.455G>A c.366G>A (p.Leu122=) c.312G>A (p.Leu104=) n.502G>A n.489G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725339G>C | CA510847534 | SLC2A10 | c.303G>C (p.Leu101=) n.455G>C c.366G>C (p.Leu122=) c.312G>C (p.Leu104=) n.502G>C n.489G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725339G= | CA2366796151 | SLC2A10 | c.303G= (p.Leu101=) n.455G= c.366G= (p.Leu122=) c.312G= (p.Leu104=) n.502G= n.489G= | |
| 20 | g.46725339G>T | CA9891952 | SLC2A10 | c.303G>T (p.Leu101=) n.455G>T c.366G>T (p.Leu122=) c.312G>T (p.Leu104=) n.502G>T n.489G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725340G>A | CA409266752 | SLC2A10 | c.304G>A (p.Val102Ile) n.456G>A c.367G>A (p.Val123Ile) c.313G>A (p.Val105Ile) n.503G>A n.490G>A | |
| 20 | g.46725340G>C | CA409266751 | SLC2A10 | c.304G>C (p.Val102Leu) n.456G>C c.367G>C (p.Val123Leu) c.313G>C (p.Val105Leu) n.503G>C n.490G>C | gnomAD v4 |
| 20 | g.46725340G>T | CA409266750 | SLC2A10 | c.304G>T (p.Val102Phe) n.456G>T c.367G>T (p.Val123Phe) c.313G>T (p.Val105Phe) n.503G>T n.490G>T | COSMIC |
| 20 | g.46725341T>A | CA409266753 | SLC2A10 | c.305T>A (p.Val102Asp) n.457T>A c.368T>A (p.Val123Asp) c.314T>A (p.Val105Asp) n.504T>A n.491T>A | |
| 20 | g.46725341T>C | CA409266754 | SLC2A10 | c.305T>C (p.Val102Ala) n.457T>C c.368T>C (p.Val123Ala) c.314T>C (p.Val105Ala) n.504T>C n.491T>C | |
| 20 | g.46725341T>G | CA409266755 | SLC2A10 | c.305T>G (p.Val102Gly) n.457T>G c.368T>G (p.Val123Gly) c.314T>G (p.Val105Gly) n.504T>G n.491T>G | |
| 20 | g.46725342C>A | CA510847535 | SLC2A10 | c.306C>A (p.Val102=) n.458C>A c.369C>A (p.Val123=) c.315C>A (p.Val105=) n.505C>A n.492C>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46725342C= | CA2366796152 | SLC2A10 | c.306C= (p.Val102=) n.458C= c.369C= (p.Val123=) c.315C= (p.Val105=) n.505C= n.492C= | |
| 20 | g.46725342C>G | CA510847536 | SLC2A10 | c.306C>G (p.Val102=) n.458C>G c.369C>G (p.Val123=) c.315C>G (p.Val105=) n.505C>G n.492C>G | |
| 20 | g.46725342C>T | CA315755423 | SLC2A10 | c.306C>T (p.Val102=) n.458C>T c.369C>T (p.Val123=) c.315C>T (p.Val105=) n.505C>T n.492C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725343C>A | CA409266756 | SLC2A10 | c.307C>A (p.Leu103Met) n.459C>A c.370C>A (p.Leu124Met) c.316C>A (p.Leu106Met) n.506C>A n.493C>A | |
| 20 | g.46725343C>G | CA409266757 | SLC2A10 | c.307C>G (p.Leu103Val) n.459C>G c.370C>G (p.Leu124Val) c.316C>G (p.Leu106Val) n.506C>G n.493C>G | |
| 20 | g.46725343C>T | CA510847537 | SLC2A10 | c.307C>T (p.Leu103=) n.459C>T c.370C>T (p.Leu124=) c.316C>T (p.Leu106=) n.506C>T n.493C>T | |
| 20 | g.46725344T>A | CA409266758 | SLC2A10 | c.308T>A (p.Leu103Gln) n.460T>A c.371T>A (p.Leu124Gln) c.317T>A (p.Leu106Gln) n.507T>A n.494T>A | |
| 20 | g.46725344T>C | CA409266760 | SLC2A10 | c.308T>C (p.Leu103Pro) n.460T>C c.371T>C (p.Leu124Pro) c.317T>C (p.Leu106Pro) n.507T>C n.494T>C | dbSNP gnomAD v4 |
| 20 | g.46725344T>G | CA409266759 | SLC2A10 | c.308T>G (p.Leu103Arg) n.460T>G c.371T>G (p.Leu124Arg) c.317T>G (p.Leu106Arg) n.507T>G n.494T>G | |
| 20 | g.46725344T= | CA2366796153 | SLC2A10 | c.308T= (p.Leu103=) n.460T= c.371T= (p.Leu124=) c.317T= (p.Leu106=) n.507T= n.494T= | |
| 20 | g.46725345G>A | CA510847538 | SLC2A10 | c.309G>A (p.Leu103=) n.461G>A c.372G>A (p.Leu124=) c.318G>A (p.Leu106=) n.508G>A n.495G>A | dbSNP |
| 20 | g.46725345G>C | CA510847540 | SLC2A10 | c.309G>C (p.Leu103=) n.461G>C c.372G>C (p.Leu124=) c.318G>C (p.Leu106=) n.508G>C n.495G>C | |
| 20 | g.46725345G= | CA2366796154 | SLC2A10 | c.309G= (p.Leu103=) n.461G= c.372G= (p.Leu124=) c.318G= (p.Leu106=) n.508G= n.495G= | |
| 20 | g.46725345G>T | CA510847539 | SLC2A10 | c.309G>T (p.Leu103=) n.461G>T c.372G>T (p.Leu124=) c.318G>T (p.Leu106=) n.508G>T n.495G>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46725346G>A | CA409266761 | SLC2A10 | c.310G>A (p.Gly104Ser) n.462G>A c.373G>A (p.Gly125Ser) c.319G>A (p.Gly107Ser) n.509G>A n.496G>A | |
| 20 | g.46725346G>C | CA409266762 | SLC2A10 | c.310G>C (p.Gly104Arg) n.462G>C c.373G>C (p.Gly125Arg) c.319G>C (p.Gly107Arg) n.509G>C n.496G>C | |
| 20 | g.46725346G>T | CA409266763 | SLC2A10 | c.310G>T (p.Gly104Cys) n.462G>T c.373G>T (p.Gly125Cys) c.319G>T (p.Gly107Cys) n.509G>T n.496G>T | |
| 20 | g.46725347G>A | CA16616473 | SLC2A10 | c.311G>A (p.Gly104Asp) n.463G>A c.374G>A (p.Gly125Asp) c.320G>A (p.Gly107Asp) n.510G>A n.497G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46725347G>C | CA409266764 | SLC2A10 | c.311G>C (p.Gly104Ala) n.463G>C c.374G>C (p.Gly125Ala) c.320G>C (p.Gly107Ala) n.510G>C n.497G>C | |
| 20 | g.46725347G= | CA2366796155 | SLC2A10 | c.311G= (p.Gly104=) n.463G= c.374G= (p.Gly125=) c.320G= (p.Gly107=) n.510G= n.497G= | |
| 20 | g.46725347G>T | CA409266765 | SLC2A10 | c.311G>T (p.Gly104Val) n.463G>T c.374G>T (p.Gly125Val) c.320G>T (p.Gly107Val) n.510G>T n.497G>T | |
| 20 | g.46725348C>A | CA510847541 | SLC2A10 | c.312C>A (p.Gly104=) n.464C>A c.375C>A (p.Gly125=) c.321C>A (p.Gly107=) n.511C>A n.498C>A |