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 |
|---|---|---|---|---|---|
| 14 | g.22813141C>A | CA485751966 | SLC7A7 | c.258G>T (p.Gly86=) c.-300+6497G>T (n.-300+6497G>T) n.873G>T | |
| 14 | g.22813141C= | CA2123167644 | SLC7A7 | c.258G= (p.Gly86=) c.-300+6497G= (n.-300+6497G=) n.873G= | |
| 14 | g.22813141C>G | CA485751964 | SLC7A7 | c.258G>C (p.Gly86=) c.-300+6497G>C (n.-300+6497G>C) n.873G>C | |
| 14 | g.22813141C>T | CA485751961 | SLC7A7 | c.258G>A (p.Gly86=) c.-300+6497G>A (n.-300+6497G>A) n.873G>A | dbSNP gnomAD v4 |
| 14 | g.22813142C>A | CA388922407 | SLC7A7 | c.257G>T (p.Gly86Val) c.-300+6496G>T (n.-300+6496G>T) n.872G>T | |
| 14 | g.22813142C>G | CA388922408 | SLC7A7 | c.257G>C (p.Gly86Ala) c.-300+6496G>C (n.-300+6496G>C) n.872G>C | gnomAD v4 |
| 14 | g.22813142C>T | CA388922409 | SLC7A7 | c.257G>A (p.Gly86Glu) c.-300+6496G>A (n.-300+6496G>A) n.872G>A | |
| 14 | g.22813143C>A | CA388922410 | SLC7A7 | c.256G>T (p.Gly86Trp) c.-300+6495G>T (n.-300+6495G>T) n.871G>T | |
| 14 | g.22813143C>G | CA388922411 | SLC7A7 | c.256G>C (p.Gly86Arg) c.-300+6495G>C (n.-300+6495G>C) n.871G>C | |
| 14 | g.22813143C>T | CA388922412 | SLC7A7 | c.256G>A (p.Gly86Arg) c.-300+6495G>A (n.-300+6495G>A) n.871G>A | |
| 14 | g.22813143_22813145delinsCAA | CA2123167645 | SLC7A7 | c.254_256delinsTTG (p.Phe85=) c.-300+6493_-300+6495delinsTTG (n.-300+6493_-300+6495delinsTTG) n.869_871delinsTTG | |
| 14 | g.22813144A= | CA2123167646 | SLC7A7 | c.255T= (p.Phe85=) c.-300+6494T= (n.-300+6494T=) n.870T= | |
| 14 | g.22813144A>C | CA388922413 | SLC7A7 | c.255T>G (p.Phe85Leu) c.-300+6494T>G (n.-300+6494T>G) n.870T>G | |
| 14 | g.22813144A>G | CA257714842 | SLC7A7 | c.255T>C (p.Phe85=) c.-300+6494T>C (n.-300+6494T>C) n.870T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.22813144A>T | CA388922414 | SLC7A7 | c.255T>A (p.Phe85Leu) c.-300+6494T>A (n.-300+6494T>A) n.870T>A | |
| 14 | g.22813145_22813146del | CA263810 | SLC7A7 | c.254_255del (p.Phe85TrpfsTer13) c.-300+6493_-300+6494del (n.-300+6493_-300+6494del) n.869_870del | ClinVar dbSNP |
| 14 | g.22813145A>C | CA388922417 | SLC7A7 | c.254T>G (p.Phe85Cys) c.-300+6493T>G (n.-300+6493T>G) n.869T>G | |
| 14 | g.22813145A>G | CA388922416 | SLC7A7 | c.254T>C (p.Phe85Ser) c.-300+6493T>C (n.-300+6493T>C) n.869T>C | |
| 14 | g.22813145A>T | CA388922415 | SLC7A7 | c.254T>A (p.Phe85Tyr) c.-300+6493T>A (n.-300+6493T>A) n.869T>A | |
| 14 | g.22813146_22813147insCACACCCAA | CA2800856484 | SLC7A7 | c.254_255insGGGTGTGTT (p.Val84_Phe85insLeuGlyVal) c.-300+6493_-300+6494insGGGTGTGTT (n.-300+6493_-300+6494insGGGTGTGTT) n.869_870insGGGTGTGTT | |
| 14 | g.22813146A= | CA2123167647 | SLC7A7 | c.253T= (p.Phe85=) c.-300+6492T= (n.-300+6492T=) n.868T= | |
| 14 | g.22813146A>C | CA388922418 | SLC7A7 | c.253T>G (p.Phe85Val) c.-300+6492T>G (n.-300+6492T>G) n.868T>G | |
| 14 | g.22813146A>G | CA388922419 | SLC7A7 | c.253T>C (p.Phe85Leu) c.-300+6492T>C (n.-300+6492T>C) n.868T>C | dbSNP |
| 14 | g.22813146A>T | CA388922420 | SLC7A7 | c.253T>A (p.Phe85Ile) c.-300+6492T>A (n.-300+6492T>A) n.868T>A | |
| 14 | g.22813147G>A | CA485751971 | SLC7A7 | c.252C>T (p.Val84=) c.-300+6491C>T (n.-300+6491C>T) n.867C>T | |
| 14 | g.22813147G>C | CA485751973 | SLC7A7 | c.252C>G (p.Val84=) c.-300+6491C>G (n.-300+6491C>G) n.867C>G | |
| 14 | g.22813147G>T | CA485751974 | SLC7A7 | c.252C>A (p.Val84=) c.-300+6491C>A (n.-300+6491C>A) n.867C>A | |
| 14 | g.22813148A>C | CA388922421 | SLC7A7 | c.251T>G (p.Val84Gly) c.-300+6490T>G (n.-300+6490T>G) n.866T>G | |
| 14 | g.22813148A>G | CA388922422 | SLC7A7 | c.251T>C (p.Val84Ala) c.-300+6490T>C (n.-300+6490T>C) n.866T>C | |
| 14 | g.22813148A>T | CA388922423 | SLC7A7 | c.251T>A (p.Val84Asp) c.-300+6490T>A (n.-300+6490T>A) n.866T>A | |
| 14 | g.22813149C>A | CA388922424 | SLC7A7 | c.250G>T (p.Val84Phe) c.-300+6489G>T (n.-300+6489G>T) n.865G>T | gnomAD v4 |
| 14 | g.22813149C= | CA2123167648 | SLC7A7 | c.250G= (p.Val84=) c.-300+6489G= (n.-300+6489G=) n.865G= | |
| 14 | g.22813149C>G | CA388922425 | SLC7A7 | c.250G>C (p.Val84Leu) c.-300+6489G>C (n.-300+6489G>C) n.865G>C | |
| 14 | g.22813149C>T | CA7104740 | SLC7A7 | c.250G>A (p.Val84Ile) c.-300+6489G>A (n.-300+6489G>A) n.865G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.22813150G>A | CA7104741 | SLC7A7 | c.249C>T (p.Ser83=) c.-300+6488C>T (n.-300+6488C>T) n.864C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.22813150G>C | CA485751979 | SLC7A7 | c.249C>G (p.Ser83=) c.-300+6488C>G (n.-300+6488C>G) n.864C>G | ClinVar gnomAD v4 |
| 14 | g.22813150G= | CA2123167649 | SLC7A7 | c.249C= (p.Ser83=) c.-300+6488C= (n.-300+6488C=) n.864C= | |
| 14 | g.22813150G>T | CA485751980 | SLC7A7 | c.249C>A (p.Ser83=) c.-300+6488C>A (n.-300+6488C>A) n.864C>A | gnomAD v4 |
| 14 | g.22813151G>A | CA388922426 | SLC7A7 | c.248C>T (p.Ser83Phe) c.-300+6487C>T (n.-300+6487C>T) n.863C>T | gnomAD v4 COSMIC |
| 14 | g.22813151G>C | CA388922427 | SLC7A7 | c.248C>G (p.Ser83Cys) c.-300+6487C>G (n.-300+6487C>G) n.863C>G | |
| 14 | g.22813151G>T | CA388922429 | SLC7A7 | c.248C>A (p.Ser83Tyr) c.-300+6487C>A (n.-300+6487C>A) n.863C>A | ClinVar |
| 14 | g.22813152A>C | CA388922436 | SLC7A7 | c.247T>G (p.Ser83Ala) c.-300+6486T>G (n.-300+6486T>G) n.862T>G | |
| 14 | g.22813152A>G | CA388922431 | SLC7A7 | c.247T>C (p.Ser83Pro) c.-300+6486T>C (n.-300+6486T>C) n.862T>C | |
| 14 | g.22813152A>T | CA388922434 | SLC7A7 | c.247T>A (p.Ser83Thr) c.-300+6486T>A (n.-300+6486T>A) n.862T>A | |
| 14 | g.22813153G>A | CA485751982 | SLC7A7 | c.246C>T (p.Phe82=) c.-300+6485C>T (n.-300+6485C>T) n.861C>T | |
| 14 | g.22813153G>C | CA388922438 | SLC7A7 | c.246C>G (p.Phe82Leu) c.-300+6485C>G (n.-300+6485C>G) n.861C>G | |
| 14 | g.22813153G>T | CA388922439 | SLC7A7 | c.246C>A (p.Phe82Leu) c.-300+6485C>A (n.-300+6485C>A) n.861C>A | |
| 14 | g.22813154A= | CA2123167650 | SLC7A7 | c.245T= (p.Phe82=) c.-300+6484T= (n.-300+6484T=) n.860T= | |
| 14 | g.22813154A>C | CA7104742 | SLC7A7 | c.245T>G (p.Phe82Cys) c.-300+6484T>G (n.-300+6484T>G) n.860T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.22813154A>G | CA388922441 | SLC7A7 | c.245T>C (p.Phe82Ser) c.-300+6484T>C (n.-300+6484T>C) n.860T>C |