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.189571759T>A | CA349989136 | SLC40A1 | c.470A>T (p.Asp157Val) c.350A>T (p.Asp117Val) | dbSNP |
| 2 | g.189571759T>C | CA117519 | SLC40A1 | c.470A>G (p.Asp157Gly) c.350A>G (p.Asp117Gly) | ClinVar dbSNP |
| 2 | g.189571759T>G | CA349989137 | SLC40A1 | c.470A>C (p.Asp157Ala) c.350A>C (p.Asp117Ala) | |
| 2 | g.189571759T= | CA1315650379 | SLC40A1 | c.470A= (p.Asp157=) c.350A= (p.Asp117=) | |
| 2 | g.189571760C>A | CA349989138 | SLC40A1 | c.469G>T (p.Asp157Tyr) c.349G>T (p.Asp117Tyr) | |
| 2 | g.189571760C= | CA1315650382 | SLC40A1 | c.469G= (p.Asp157=) c.349G= (p.Asp117=) | |
| 2 | g.189571760C>G | CA349989139 | SLC40A1 | c.469G>C (p.Asp157His) c.349G>C (p.Asp117His) | |
| 2 | g.189571760C>T | CA349989140 | SLC40A1 | c.469G>A (p.Asp157Asn) c.349G>A (p.Asp117Asn) | dbSNP |
| 2 | g.189571761C>A | CA349989141 | SLC40A1 | c.468G>T (p.Arg156Ser) c.348G>T (p.Arg116Ser) | |
| 2 | g.189571761C= | CA1315650386 | SLC40A1 | c.468G= (p.Arg156=) c.348G= (p.Arg116=) | |
| 2 | g.189571761C>G | CA349989142 | SLC40A1 | c.468G>C (p.Arg156Ser) c.348G>C (p.Arg116Ser) | |
| 2 | g.189571761C>T | CA430367351 | SLC40A1 | c.468G>A (p.Arg156=) c.348G>A (p.Arg116=) | dbSNP gnomAD v4 |
| 2 | g.189571762C>A | CA349989143 | SLC40A1 | c.467G>T (p.Arg156Met) c.347G>T (p.Arg116Met) | |
| 2 | g.189571762C= | CA1315650390 | SLC40A1 | c.467G= (p.Arg156=) c.347G= (p.Arg116=) | |
| 2 | g.189571762C>G | CA349989144 | SLC40A1 | c.467G>C (p.Arg156Thr) c.347G>C (p.Arg116Thr) | |
| 2 | g.189571762C>T | CA349989145 | SLC40A1 | c.467G>A (p.Arg156Lys) c.347G>A (p.Arg116Lys) | dbSNP |
| 2 | g.189571763T>A | CA349989147 | SLC40A1 | c.466A>T (p.Arg156Trp) c.346A>T (p.Arg116Trp) | |
| 2 | g.189571763T>C | CA349989146 | SLC40A1 | c.466A>G (p.Arg156Gly) c.346A>G (p.Arg116Gly) | |
| 2 | g.189571763T>G | CA430367352 | SLC40A1 | c.466A>C (p.Arg156=) c.346A>C (p.Arg116=) | |
| 2 | g.189571764T>A | CA349989148 | SLC40A1 | c.465A>T (p.Gln155His) c.345A>T (p.Gln115His) | |
| 2 | g.189571764T>C | CA430367353 | SLC40A1 | c.465A>G (p.Gln155=) c.345A>G (p.Gln115=) | |
| 2 | g.189571764T>G | CA349989149 | SLC40A1 | c.465A>C (p.Gln155His) c.345A>C (p.Gln115His) | |
| 2 | g.189571765T>A | CA349989150 | SLC40A1 | c.464A>T (p.Gln155Leu) c.344A>T (p.Gln115Leu) | |
| 2 | g.189571765T>C | CA349989151 | SLC40A1 | c.464A>G (p.Gln155Arg) c.344A>G (p.Gln115Arg) | |
| 2 | g.189571765T>G | CA349989152 | SLC40A1 | c.464A>C (p.Gln155Pro) c.344A>C (p.Gln115Pro) | |
| 2 | g.189571766G>A | CA349989153 | SLC40A1 | c.463C>T (p.Gln155Ter) c.343C>T (p.Gln115Ter) | |
| 2 | g.189571766G>C | CA349989154 | SLC40A1 | c.463C>G (p.Gln155Glu) c.343C>G (p.Gln115Glu) | |
| 2 | g.189571766G>T | CA349989155 | SLC40A1 | c.463C>A (p.Gln155Lys) c.343C>A (p.Gln115Lys) | |
| 2 | g.189571767G>A | CA430367354 | SLC40A1 | c.462C>T (p.Ile154=) c.342C>T (p.Ile114=) | dbSNP |
| 2 | g.189571767G>C | CA349989156 | SLC40A1 | c.462C>G (p.Ile154Met) c.342C>G (p.Ile114Met) | |
| 2 | g.189571767G= | CA1315650391 | SLC40A1 | c.462C= (p.Ile154=) c.342C= (p.Ile114=) | |
| 2 | g.189571767G>T | CA430367355 | SLC40A1 | c.462C>A (p.Ile154=) c.342C>A (p.Ile114=) | |
| 2 | g.189571768A>C | CA349989157 | SLC40A1 | c.461T>G (p.Ile154Ser) c.341T>G (p.Ile114Ser) | |
| 2 | g.189571768A>G | CA349989158 | SLC40A1 | c.461T>C (p.Ile154Thr) c.341T>C (p.Ile114Thr) | |
| 2 | g.189571768A>T | CA349989159 | SLC40A1 | c.461T>A (p.Ile154Asn) c.341T>A (p.Ile114Asn) | |
| 2 | g.189571769T>A | CA349989161 | SLC40A1 | c.460A>T (p.Ile154Phe) c.340A>T (p.Ile114Phe) | |
| 2 | g.189571769T>C | CA349989162 | SLC40A1 | c.460A>G (p.Ile154Val) c.340A>G (p.Ile114Val) | gnomAD v4 |
| 2 | g.189571769T>G | CA349989160 | SLC40A1 | c.460A>C (p.Ile154Leu) c.340A>C (p.Ile114Leu) | |
| 2 | g.189571770T>A | CA430367356 | SLC40A1 | c.459A>T (p.Thr153=) c.339A>T (p.Thr113=) | |
| 2 | g.189571770T>C | CA430367357 | SLC40A1 | c.459A>G (p.Thr153=) c.339A>G (p.Thr113=) | |
| 2 | g.189571770T>G | CA2024227 | SLC40A1 | c.459A>C (p.Thr153=) c.339A>C (p.Thr113=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189571770T= | CA1315650392 | SLC40A1 | c.459A= (p.Thr153=) c.339A= (p.Thr113=) | |
| 2 | g.189571771G>A | CA349989163 | SLC40A1 | c.458C>T (p.Thr153Ile) c.338C>T (p.Thr113Ile) | |
| 2 | g.189571771G>C | CA349989164 | SLC40A1 | c.458C>G (p.Thr153Arg) c.338C>G (p.Thr113Arg) | |
| 2 | g.189571771G>T | CA349989165 | SLC40A1 | c.458C>A (p.Thr153Lys) c.338C>A (p.Thr113Lys) | |
| 2 | g.189571772T>A | CA349989168 | SLC40A1 | c.457A>T (p.Thr153Ser) c.337A>T (p.Thr113Ser) | |
| 2 | g.189571772T>C | CA349989167 | SLC40A1 | c.457A>G (p.Thr153Ala) c.337A>G (p.Thr113Ala) | |
| 2 | g.189571772T>G | CA349989166 | SLC40A1 | c.457A>C (p.Thr153Pro) c.337A>C (p.Thr113Pro) |