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 |
|---|---|---|---|---|---|
| 2 | g.189571756_189571819delinsCAATCCCTTTGGATTGTGATTGCAGTAGCAGTACTGGCCAAATTTGCAATATTTGCAATAGTGA | CA1315650365 | SLC40A1 | c.410_473delinsTCACTATTGCAAATATTGCAAATTTGGCCAGTACTGCTACTGCAATCACAATCCAAAGGGATTG (p.Ile137=) c.290_353delinsTCACTATTGCAAATATTGCAAATTTGGCCAGTACTGCTACTGCAATCACAATCCAAAGGGATTG (p.Ile97=) | |
| 2 | g.189571757_189571819del | CA916735262 | SLC40A1 | c.410_472del (p.Ile137_Trp158delinsArg) c.290_352del (p.Ile97_Trp118delinsArg) | dbSNP gnomAD v4 |
| 2 | g.189571799T>A | CA10581910 | SLC40A1 | c.430A>T (p.Asn144Tyr) c.310A>T (p.Asn104Tyr) | ClinVar dbSNP |
| 2 | g.189571799T>C | CA349989223 | SLC40A1 | c.430A>G (p.Asn144Asp) c.310A>G (p.Asn104Asp) | ClinVar dbSNP gnomAD v4 |
| 2 | g.189571799T>G | CA117515 | SLC40A1 | c.430A>C (p.Asn144His) c.310A>C (p.Asn104His) | ClinVar dbSNP |
| 2 | g.189571799T= | CA1315650421 | SLC40A1 | c.430A= (p.Asn144=) c.310A= (p.Asn104=) | |
| 2 | g.189571800T>A | CA430367378 | SLC40A1 | c.429A>T (p.Ala143=) c.309A>T (p.Ala103=) | |
| 2 | g.189571800T>C | CA430367380 | SLC40A1 | c.429A>G (p.Ala143=) c.309A>G (p.Ala103=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189571800T>G | CA430367379 | SLC40A1 | c.429A>C (p.Ala143=) c.309A>C (p.Ala103=) | |
| 2 | g.189571800T= | CA1315650430 | SLC40A1 | c.429A= (p.Ala143=) c.309A= (p.Ala103=) | |
| 2 | g.189571801G>A | CA349989224 | SLC40A1 | c.428C>T (p.Ala143Val) c.308C>T (p.Ala103Val) | |
| 2 | g.189571801G>C | CA349989225 | SLC40A1 | c.428C>G (p.Ala143Gly) c.308C>G (p.Ala103Gly) | |
| 2 | g.189571801G= | CA1315650434 | SLC40A1 | c.428C= (p.Ala143=) c.308C= (p.Ala103=) | |
| 2 | g.189571801G>T | CA62903703 | SLC40A1 | c.428C>A (p.Ala143Glu) c.308C>A (p.Ala103Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189571802C>A | CA349989226 | SLC40A1 | c.427G>T (p.Ala143Ser) c.307G>T (p.Ala103Ser) | |
| 2 | g.189571802C>G | CA349989228 | SLC40A1 | c.427G>C (p.Ala143Pro) c.307G>C (p.Ala103Pro) | |
| 2 | g.189571802C>T | CA349989227 | SLC40A1 | c.427G>A (p.Ala143Thr) c.307G>A (p.Ala103Thr) | |
| 2 | g.189571803A>C | CA349989229 | SLC40A1 | c.426T>G (p.Ile142Met) c.306T>G (p.Ile102Met) | |
| 2 | g.189571803A>G | CA430367381 | SLC40A1 | c.426T>C (p.Ile142=) c.306T>C (p.Ile102=) | |
| 2 | g.189571803A>T | CA430367382 | SLC40A1 | c.426T>A (p.Ile142=) c.306T>A (p.Ile102=) | |
| 2 | g.189571804A>C | CA349989230 | SLC40A1 | c.425T>G (p.Ile142Ser) c.305T>G (p.Ile102Ser) | |
| 2 | g.189571804A>G | CA349989231 | SLC40A1 | c.425T>C (p.Ile142Thr) c.305T>C (p.Ile102Thr) | gnomAD v4 |
| 2 | g.189571804A>T | CA349989232 | SLC40A1 | c.425T>A (p.Ile142Asn) c.305T>A (p.Ile102Asn) | |
| 2 | g.189571805T>A | CA349989235 | SLC40A1 | c.424A>T (p.Ile142Phe) c.304A>T (p.Ile102Phe) | |
| 2 | g.189571805T>C | CA349989234 | SLC40A1 | c.424A>G (p.Ile142Val) c.304A>G (p.Ile102Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.189571805T>G | CA349989233 | SLC40A1 | c.424A>C (p.Ile142Leu) c.304A>C (p.Ile102Leu) | |
| 2 | g.189571805T= | CA1315650437 | SLC40A1 | c.424A= (p.Ile142=) c.304A= (p.Ile102=) | |
| 2 | g.189571806A>C | CA349989236 | SLC40A1 | c.423T>G (p.Asn141Lys) c.303T>G (p.Asn101Lys) | |
| 2 | g.189571806A>G | CA430367383 | SLC40A1 | c.423T>C (p.Asn141=) c.303T>C (p.Asn101=) | |
| 2 | g.189571806A>T | CA349989237 | SLC40A1 | c.423T>A (p.Asn141Lys) c.303T>A (p.Asn101Lys) | |
| 2 | g.189571807T>A | CA349989238 | SLC40A1 | c.422A>T (p.Asn141Ile) c.302A>T (p.Asn101Ile) | |
| 2 | g.189571807T>C | CA349989239 | SLC40A1 | c.422A>G (p.Asn141Ser) c.302A>G (p.Asn101Ser) | |
| 2 | g.189571807T>G | CA349989240 | SLC40A1 | c.422A>C (p.Asn141Thr) c.302A>C (p.Asn101Thr) | |
| 2 | g.189571808T>A | CA349989241 | SLC40A1 | c.421A>T (p.Asn141Tyr) c.301A>T (p.Asn101Tyr) | |
| 2 | g.189571808T>C | CA349989242 | SLC40A1 | c.421A>G (p.Asn141Asp) c.301A>G (p.Asn101Asp) | |
| 2 | g.189571808T>G | CA349989243 | SLC40A1 | c.421A>C (p.Asn141His) c.301A>C (p.Asn101His) | |
| 2 | g.189571809T>A | CA430367384 | SLC40A1 | c.420A>T (p.Ala140=) c.300A>T (p.Ala100=) | |
| 2 | g.189571809T>C | CA430367385 | SLC40A1 | c.420A>G (p.Ala140=) c.300A>G (p.Ala100=) | |
| 2 | g.189571809T>G | CA430367386 | SLC40A1 | c.420A>C (p.Ala140=) c.300A>C (p.Ala100=) | |
| 2 | g.189571810G>A | CA349989244 | SLC40A1 | c.419C>T (p.Ala140Val) c.299C>T (p.Ala100Val) | |
| 2 | g.189571810G>C | CA349989245 | SLC40A1 | c.419C>G (p.Ala140Gly) c.299C>G (p.Ala100Gly) | |
| 2 | g.189571810G>T | CA349989246 | SLC40A1 | c.419C>A (p.Ala140Glu) c.299C>A (p.Ala100Glu) | |
| 2 | g.189571811C>A | CA349989247 | SLC40A1 | c.418G>T (p.Ala140Ser) c.298G>T (p.Ala100Ser) | |
| 2 | g.189571811C= | CA1315650442 | SLC40A1 | c.418G= (p.Ala140=) c.298G= (p.Ala100=) | |
| 2 | g.189571811C>G | CA349989248 | SLC40A1 | c.418G>C (p.Ala140Pro) c.298G>C (p.Ala100Pro) | |
| 2 | g.189571811C>T | CA349989249 | SLC40A1 | c.418G>A (p.Ala140Thr) c.298G>A (p.Ala100Thr) | dbSNP gnomAD v4 |
| 2 | g.189571812A>C | CA349989250 | SLC40A1 | c.417T>G (p.Ile139Met) c.297T>G (p.Ile99Met) | |
| 2 | g.189571812A>G | CA430367387 | SLC40A1 | c.417T>C (p.Ile139=) c.297T>C (p.Ile99=) | |
| 2 | g.189571812A>T | CA430367388 | SLC40A1 | c.417T>A (p.Ile139=) c.297T>A (p.Ile99=) | |
| 2 | g.189571813A>C | CA349989251 | SLC40A1 | c.416T>G (p.Ile139Ser) c.296T>G (p.Ile99Ser) |