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.70942398_70942401dup | CA2695204543 | SMN1 | c.314_317dup (p.Cys107ArgfsTer12) c.274-320_274-317dup (n.274-320_274-317dup) | |
| 5 | g.70942399C>A | CA360093793 | SMN1 | c.315C>A (p.Asp105Glu) c.274-319C>A (n.274-319C>A) | |
| 5 | g.70942399C>G | CA360093795 | SMN1 | c.315C>G (p.Asp105Glu) c.274-319C>G (n.274-319C>G) | |
| 5 | g.70942399C>T | CA444966242 | SMN1 | c.315C>T (p.Asp105=) c.274-319C>T (n.274-319C>T) | |
| 5 | g.70942400G>A | CA360093797 | SMN1 | c.316G>A (p.Gly106Ser) c.274-318G>A (n.274-318G>A) | ClinVar dbSNP |
| 5 | g.70942400G>C | CA360093798 | SMN1 | c.316G>C (p.Gly106Arg) c.274-318G>C (n.274-318G>C) | |
| 5 | g.70942400G= | CA1554171490 | SMN1 | c.316G= (p.Gly106=) c.274-318G= (n.274-318G=) | |
| 5 | g.70942400G>T | CA360093799 | SMN1 | c.316G>T (p.Gly106Cys) c.274-318G>T (n.274-318G>T) | |
| 5 | g.70942401G>A | CA360093802 | SMN1 | c.317G>A (p.Gly106Asp) c.274-317G>A (n.274-317G>A) | |
| 5 | g.70942401G>C | CA360093804 | SMN1 | c.317G>C (p.Gly106Ala) c.274-317G>C (n.274-317G>C) | |
| 5 | g.70942401G>T | CA360093805 | SMN1 | c.317G>T (p.Gly106Val) c.274-317G>T (n.274-317G>T) | ClinVar |
| 5 | g.70942402T>A | CA444966261 | SMN1 | c.318T>A (p.Gly106=) c.274-316T>A (n.274-316T>A) | |
| 5 | g.70942402T>C | CA444966267 | SMN1 | c.318T>C (p.Gly106=) c.274-316T>C (n.274-316T>C) | |
| 5 | g.70942402T>G | CA444966269 | SMN1 | c.318T>G (p.Gly106=) c.274-316T>G (n.274-316T>G) | |
| 5 | g.70942403T>A | CA360093809 | SMN1 | c.319T>A (p.Cys107Ser) c.274-315T>A (n.274-315T>A) | |
| 5 | g.70942403T>C | CA360093811 | SMN1 | c.319T>C (p.Cys107Arg) c.274-315T>C (n.274-315T>C) | |
| 5 | g.70942403T>G | CA360093814 | SMN1 | c.319T>G (p.Cys107Gly) c.274-315T>G (n.274-315T>G) | |
| 5 | g.70942404G>A | CA360093822 | SMN1 | c.320G>A (p.Cys107Tyr) c.274-314G>A (n.274-314G>A) | |
| 5 | g.70942404G>C | CA360093819 | SMN1 | c.320G>C (p.Cys107Ser) c.274-314G>C (n.274-314G>C) | |
| 5 | g.70942404G>T | CA360093817 | SMN1 | c.320G>T (p.Cys107Phe) c.274-314G>T (n.274-314G>T) | |
| 5 | g.70942405C>A | CA360093824 | SMN1 | c.321C>A (p.Cys107Ter) c.274-313C>A (n.274-313C>A) | |
| 5 | g.70942405C>G | CA360093825 | SMN1 | c.321C>G (p.Cys107Trp) c.274-313C>G (n.274-313C>G) | |
| 5 | g.70942405C>T | CA444966285 | SMN1 | c.321C>T (p.Cys107=) c.274-313C>T (n.274-313C>T) | |
| 5 | g.70942406A>C | CA360093829 | SMN1 | c.322A>C (p.Ile108Leu) c.274-312A>C (n.274-312A>C) | |
| 5 | g.70942406A>G | CA360093830 | SMN1 | c.322A>G (p.Ile108Val) c.274-312A>G (n.274-312A>G) | |
| 5 | g.70942406A>T | CA360093832 | SMN1 | c.322A>T (p.Ile108Phe) c.274-312A>T (n.274-312A>T) | |
| 5 | g.70942407T>A | CA360093836 | SMN1 | c.323T>A (p.Ile108Asn) c.274-311T>A (n.274-311T>A) | |
| 5 | g.70942407T>C | CA360093838 | SMN1 | c.323T>C (p.Ile108Thr) c.274-311T>C (n.274-311T>C) | |
| 5 | g.70942407T>G | CA360093840 | SMN1 | c.323T>G (p.Ile108Ser) c.274-311T>G (n.274-311T>G) | |
| 5 | g.70942408T>A | CA444966308 | SMN1 | c.324T>A (p.Ile108=) c.274-310T>A (n.274-310T>A) | |
| 5 | g.70942408T>C | CA444966320 | SMN1 | c.324T>C (p.Ile108=) c.274-310T>C (n.274-310T>C) | |
| 5 | g.70942408T>G | CA360093843 | SMN1 | c.324T>G (p.Ile108Met) c.274-310T>G (n.274-310T>G) | |
| 5 | g.70942409T>A | CA360093845 | SMN1 | c.325T>A (p.Tyr109Asn) c.274-309T>A (n.274-309T>A) | |
| 5 | g.70942409T>C | CA360093846 | SMN1 | c.325T>C (p.Tyr109His) c.274-309T>C (n.274-309T>C) | |
| 5 | g.70942409T>G | CA360093848 | SMN1 | c.325T>G (p.Tyr109Asp) c.274-309T>G (n.274-309T>G) | |
| 5 | g.70942410A>C | CA360093850 | SMN1 | c.326A>C (p.Tyr109Ser) c.274-308A>C (n.274-308A>C) | |
| 5 | g.70942410A>G | CA360093852 | SMN1 | c.326A>G (p.Tyr109Cys) c.274-308A>G (n.274-308A>G) | |
| 5 | g.70942410A>T | CA360093855 | SMN1 | c.326A>T (p.Tyr109Phe) c.274-308A>T (n.274-308A>T) | |
| 5 | g.70942411C>A | CA360093857 | SMN1 | c.327C>A (p.Tyr109Ter) c.274-307C>A (n.274-307C>A) | |
| 5 | g.70942411C>G | CA360093859 | SMN1 | c.327C>G (p.Tyr109Ter) c.274-307C>G (n.274-307C>G) | |
| 5 | g.70942411C>T | CA444966348 | SMN1 | c.327C>T (p.Tyr109=) c.274-307C>T (n.274-307C>T) | |
| 5 | g.70942412C>A | CA360093862 | SMN1 | c.328C>A (p.Pro110Thr) c.274-306C>A (n.274-306C>A) | |
| 5 | g.70942412C>G | CA360093864 | SMN1 | c.328C>G (p.Pro110Ala) c.274-306C>G (n.274-306C>G) | |
| 5 | g.70942412C>T | CA360093866 | SMN1 | c.328C>T (p.Pro110Ser) c.274-306C>T (n.274-306C>T) | |
| 5 | g.70942413C>A | CA360093869 | SMN1 | c.329C>A (p.Pro110Gln) c.274-305C>A (n.274-305C>A) | |
| 5 | g.70942413C>G | CA360093870 | SMN1 | c.329C>G (p.Pro110Arg) c.274-305C>G (n.274-305C>G) | |
| 5 | g.70942413C>T | CA360093873 | SMN1 | c.329C>T (p.Pro110Leu) c.274-305C>T (n.274-305C>T) | |
| 5 | g.70942414A>C | CA444966367 | SMN1 | c.330A>C (p.Pro110=) c.274-304A>C (n.274-304A>C) | |
| 5 | g.70942414A>G | CA444966371 | SMN1 | c.330A>G (p.Pro110=) c.274-304A>G (n.274-304A>G) |