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.70942356_70942367delinsAGTGGAAAGTTG | CA1554171485 | SMN1 | c.274-2_283delinsAGTGGAAAGTTG c.274-362_274-351delinsAGTGGAAAGTTG (n.274-362_274-351delinsAGTGGAAAGTTG) | |
| 5 | g.70942358_70942368del | CA913189520 | SMN1 | c.274_284del c.274-360_274-350del (n.274-360_274-350del) | ClinVar dbSNP |
| 5 | g.70942362A= | CA1554171486 | SMN1 | c.278A= (p.Lys93=) c.274-356A= (n.274-356A=) | |
| 5 | g.70942362A>C | CA360093290 | SMN1 | c.278A>C (p.Lys93Thr) c.274-356A>C (n.274-356A>C) | ClinVar dbSNP |
| 5 | g.70942362A>G | CA360093293 | SMN1 | c.278A>G (p.Lys93Arg) c.274-356A>G (n.274-356A>G) | |
| 5 | g.70942362A>T | CA360093296 | SMN1 | c.278A>T (p.Lys93Ile) c.274-356A>T (n.274-356A>T) | |
| 5 | g.70942363A>C | CA360093307 | SMN1 | c.279A>C (p.Lys93Asn) c.274-355A>C (n.274-355A>C) | |
| 5 | g.70942363A>G | CA444965913 | SMN1 | c.279A>G (p.Lys93=) c.274-355A>G (n.274-355A>G) | |
| 5 | g.70942363A>T | CA360093312 | SMN1 | c.279A>T (p.Lys93Asn) c.274-355A>T (n.274-355A>T) | |
| 5 | g.70942364G>A | CA360093317 | SMN1 | c.280G>A (p.Val94Ile) c.274-354G>A (n.274-354G>A) | |
| 5 | g.70942364G>C | CA360093323 | SMN1 | c.280G>C (p.Val94Leu) c.274-354G>C (n.274-354G>C) | |
| 5 | g.70942364G= | CA1554171487 | SMN1 | c.280G= (p.Val94=) c.274-354G= (n.274-354G=) | |
| 5 | g.70942364G>T | CA360093320 | SMN1 | c.280G>T (p.Val94Phe) c.274-354G>T (n.274-354G>T) | ClinVar dbSNP |
| 5 | g.70942365T>A | CA360093328 | SMN1 | c.281T>A (p.Val94Asp) c.274-353T>A (n.274-353T>A) | |
| 5 | g.70942365T>C | CA360093335 | SMN1 | c.281T>C (p.Val94Ala) c.274-353T>C (n.274-353T>C) | |
| 5 | g.70942365T>G | CA360093332 | SMN1 | c.281T>G (p.Val94Gly) c.274-353T>G (n.274-353T>G) | |
| 5 | g.70942366T>A | CA444965934 | SMN1 | c.282T>A (p.Val94=) c.274-352T>A (n.274-352T>A) | |
| 5 | g.70942366T>C | CA444965936 | SMN1 | c.282T>C (p.Val94=) c.274-352T>C (n.274-352T>C) | |
| 5 | g.70942366T>G | CA444965939 | SMN1 | c.282T>G (p.Val94=) c.274-352T>G (n.274-352T>G) | |
| 5 | g.70942367G>A | CA360093339 | SMN1 | c.283G>A (p.Gly95Arg) c.274-351G>A (n.274-351G>A) | |
| 5 | g.70942367G>C | CA254690 | SMN1 | c.283G>C (p.Gly95Arg) c.274-351G>C (n.274-351G>C) | ClinVar dbSNP |
| 5 | g.70942367G= | CA1554171488 | SMN1 | c.283G= (p.Gly95=) c.274-351G= (n.274-351G=) | |
| 5 | g.70942367G>T | CA360093345 | SMN1 | c.283G>T (p.Gly95Trp) c.274-351G>T (n.274-351G>T) | |
| 5 | g.70942370del | CA2695204541 | SMN1 | c.286del (p.Asp96ThrfsTer?) c.274-348del (n.274-348del) | |
| 5 | g.70942368G>A | CA360093350 | SMN1 | c.284G>A (p.Gly95Glu) c.274-350G>A (n.274-350G>A) | |
| 5 | g.70942368G>C | CA360093352 | SMN1 | c.284G>C (p.Gly95Ala) c.274-350G>C (n.274-350G>C) | |
| 5 | g.70942368G>T | CA360093354 | SMN1 | c.284G>T (p.Gly95Val) c.274-350G>T (n.274-350G>T) | |
| 5 | g.70942369G>A | CA444965964 | SMN1 | c.285G>A (p.Gly95=) c.274-349G>A (n.274-349G>A) | |
| 5 | g.70942369G>C | CA444965968 | SMN1 | c.285G>C (p.Gly95=) c.274-349G>C (n.274-349G>C) | |
| 5 | g.70942369G>T | CA444965967 | SMN1 | c.285G>T (p.Gly95=) c.274-349G>T (n.274-349G>T) | |
| 5 | g.70942370G>A | CA360093359 | SMN1 | c.286G>A (p.Asp96Asn) c.274-348G>A (n.274-348G>A) | |
| 5 | g.70942370G>C | CA360093362 | SMN1 | c.286G>C (p.Asp96His) c.274-348G>C (n.274-348G>C) | |
| 5 | g.70942370G>T | CA360093365 | SMN1 | c.286G>T (p.Asp96Tyr) c.274-348G>T (n.274-348G>T) | |
| 5 | g.70942371A>C | CA360093368 | SMN1 | c.287A>C (p.Asp96Ala) c.274-347A>C (n.274-347A>C) | |
| 5 | g.70942371A>G | CA360093371 | SMN1 | c.287A>G (p.Asp96Gly) c.274-347A>G (n.274-347A>G) | |
| 5 | g.70942371A>T | CA360093373 | SMN1 | c.287A>T (p.Asp96Val) c.274-347A>T (n.274-347A>T) | |
| 5 | g.70942372C>A | CA360093381 | SMN1 | c.288C>A (p.Asp96Glu) c.274-346C>A (n.274-346C>A) | |
| 5 | g.70942372C>G | CA360093378 | SMN1 | c.288C>G (p.Asp96Glu) c.274-346C>G (n.274-346C>G) | |
| 5 | g.70942372C>T | CA444965977 | SMN1 | c.288C>T (p.Asp96=) c.274-346C>T (n.274-346C>T) | |
| 5 | g.70942373A>C | CA360093384 | SMN1 | c.289A>C (p.Lys97Gln) c.274-345A>C (n.274-345A>C) | |
| 5 | g.70942373A>G | CA360093388 | SMN1 | c.289A>G (p.Lys97Glu) c.274-345A>G (n.274-345A>G) | |
| 5 | g.70942373A>T | CA360093393 | SMN1 | c.289A>T (p.Lys97Ter) c.274-345A>T (n.274-345A>T) | |
| 5 | g.70942375del | CA2573050771 | SMN1 | c.291del (p.Lys97AsnfsTer?) c.274-343del (n.274-343del) | ClinVar dbSNP |
| 5 | g.70942374A>C | CA360093396 | SMN1 | c.290A>C (p.Lys97Thr) c.274-344A>C (n.274-344A>C) | |
| 5 | g.70942374A>G | CA360093400 | SMN1 | c.290A>G (p.Lys97Arg) c.274-344A>G (n.274-344A>G) | |
| 5 | g.70942374A>T | CA360093402 | SMN1 | c.290A>T (p.Lys97Ile) c.274-344A>T (n.274-344A>T) | |
| 5 | g.70942375A>C | CA360093407 | SMN1 | c.291A>C (p.Lys97Asn) c.274-343A>C (n.274-343A>C) | |
| 5 | g.70942375A>G | CA444965999 | SMN1 | c.291A>G (p.Lys97=) c.274-343A>G (n.274-343A>G) | |
| 5 | g.70942375A>T | CA360093410 | SMN1 | c.291A>T (p.Lys97Asn) c.274-343A>T (n.274-343A>T) |