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 |
|---|---|---|---|---|---|
| 5 | g.70936291_70945268del | CA915943371 | SMN1 | c.82-2548_723+515del c.82-2548_628-798del c.82-2548_522+515del c.82-2548_427-798del | ClinVar |
| 5 | g.70938897T>A | CA360092164 | SMN1 | c.140T>A (p.Val47Glu) | |
| 5 | g.70938897T>C | CA360092165 | SMN1 | c.140T>C (p.Val47Ala) | |
| 5 | g.70938897T>G | CA360092167 | SMN1 | c.140T>G (p.Val47Gly) | |
| 5 | g.70938898G>A | CA444964049 | SMN1 | c.141G>A (p.Val47=) | |
| 5 | g.70938898G>C | CA444964050 | SMN1 | c.141G>C (p.Val47=) | |
| 5 | g.70938898G>T | CA444964053 | SMN1 | c.141G>T (p.Val47=) | |
| 5 | g.70938899G>A | CA360092170 | SMN1 | c.142G>A (p.Ala48Thr) | |
| 5 | g.70938899G>C | CA360092171 | SMN1 | c.142G>C (p.Ala48Pro) | |
| 5 | g.70938899G>T | CA360092173 | SMN1 | c.142G>T (p.Ala48Ser) | |
| 5 | g.70938900C>A | CA360092175 | SMN1 | c.143C>A (p.Ala48Asp) | |
| 5 | g.70938900C>G | CA360092178 | SMN1 | c.143C>G (p.Ala48Gly) | |
| 5 | g.70938900C>T | CA360092181 | SMN1 | c.143C>T (p.Ala48Val) | |
| 5 | g.70938901T>A | CA444964070 | SMN1 | c.144T>A (p.Ala48=) | |
| 5 | g.70938901T>C | CA444964075 | SMN1 | c.144T>C (p.Ala48=) | |
| 5 | g.70938901T>G | CA444964073 | SMN1 | c.144T>G (p.Ala48=) | |
| 5 | g.70938902T>A | CA360092191 | SMN1 | c.145T>A (p.Ser49Thr) | |
| 5 | g.70938902T>C | CA360092189 | SMN1 | c.145T>C (p.Ser49Pro) | |
| 5 | g.70938902T>G | CA360092186 | SMN1 | c.145T>G (p.Ser49Ala) | |
| 5 | g.70938903C>A | CA360092194 | SMN1 | c.146C>A (p.Ser49Ter) | |
| 5 | g.70938903C>G | CA360092197 | SMN1 | c.146C>G (p.Ser49Ter) | |
| 5 | g.70938903C>T | CA360092200 | SMN1 | c.146C>T (p.Ser49Leu) | |
| 5 | g.70938904A>C | CA444964103 | SMN1 | c.147A>C (p.Ser49=) | |
| 5 | g.70938904A>G | CA444964106 | SMN1 | c.147A>G (p.Ser49=) | |
| 5 | g.70938904A>T | CA444964109 | SMN1 | c.147A>T (p.Ser49=) | |
| 5 | g.70938905T>A | CA360092203 | SMN1 | c.148T>A (p.Phe50Ile) | |
| 5 | g.70938905T>C | CA360092206 | SMN1 | c.148T>C (p.Phe50Leu) | |
| 5 | g.70938905T>G | CA360092209 | SMN1 | c.148T>G (p.Phe50Val) | |
| 5 | g.70938906T>A | CA360092218 | SMN1 | c.149T>A (p.Phe50Tyr) | |
| 5 | g.70938906T>C | CA360092213 | SMN1 | c.149T>C (p.Phe50Ser) | |
| 5 | g.70938906T>G | CA360092216 | SMN1 | c.149T>G (p.Phe50Cys) | |
| 5 | g.70938907T>A | CA360092221 | SMN1 | c.150T>A (p.Phe50Leu) | |
| 5 | g.70938907T>C | CA444964129 | SMN1 | c.150T>C (p.Phe50=) | |
| 5 | g.70938907T>G | CA360092224 | SMN1 | c.150T>G (p.Phe50Leu) | |
| 5 | g.70938908A>C | CA360092227 | SMN1 | c.151A>C (p.Lys51Gln) | |
| 5 | g.70938908A>G | CA360092229 | SMN1 | c.151A>G (p.Lys51Glu) | |
| 5 | g.70938908A>T | CA360092232 | SMN1 | c.151A>T (p.Lys51Ter) | |
| 5 | g.70938909A>C | CA360092237 | SMN1 | c.152A>C (p.Lys51Thr) | |
| 5 | g.70938909A>G | CA360092245 | SMN1 | c.152A>G (p.Lys51Arg) | |
| 5 | g.70938909A>T | CA360092239 | SMN1 | c.152A>T (p.Lys51Met) | |
| 5 | g.70938910G>A | CA444964151 | SMN1 | c.153G>A (p.Lys51=) | |
| 5 | g.70938910G>C | CA360092248 | SMN1 | c.153G>C (p.Lys51Asn) | |
| 5 | g.70938910G>T | CA360092250 | SMN1 | c.153G>T (p.Lys51Asn) | |
| 5 | g.70938911G>A | CA360092254 | SMN1 | c.153+1G>A (n.153+1G>A) | |
| 5 | g.70938911G>C | CA360092257 | SMN1 | c.153+1G>C (n.153+1G>C) | |
| 5 | g.70938911G>T | CA360092260 | SMN1 | c.153+1G>T (n.153+1G>T) | |
| 5 | g.70938912T>A | CA360092263 | SMN1 | c.153+2T>A (n.153+2T>A) | |
| 5 | g.70938912T>C | CA360092267 | SMN1 | c.153+2T>C (n.153+2T>C) | |
| 5 | g.70938912T>G | CA360092269 | SMN1 | c.153+2T>G (n.153+2T>G) |