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 |
|---|---|---|---|---|---|
| 12 | g.51913161_51913175del | CA2573148772 | ACVRL1 | c.166_180del (p.Lys56_Cys60del) c.124_138del (p.Lys42_Cys46del) c.103+626_103+640del (n.103+626_103+640del) | ClinVar dbSNP |
| 12 | g.51913163G>A | CA480063079 | ACVRL1 | c.168G>A (p.Lys56=) c.126G>A (p.Lys42=) c.103+628G>A (n.103+628G>A) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51913163G>C | CA384897627 | ACVRL1 | c.168G>C (p.Lys56Asn) c.126G>C (p.Lys42Asn) c.103+628G>C (n.103+628G>C) | |
| 12 | g.51913163G>T | CA384897625 | ACVRL1 | c.168G>T (p.Lys56Asn) c.126G>T (p.Lys42Asn) c.103+628G>T (n.103+628G>T) | gnomAD v4 |
| 12 | g.51913166dup | CA1139662693 | ACVRL1 | c.171dup (p.Pro58AlafsTer?) c.129dup (p.Pro44AlafsTer?) c.103+631dup (n.103+631dup) | ClinVar dbSNP |
| 12 | g.51913167_51913180del | CA2573148773 | ACVRL1 | c.172_185del (p.Pro58GlyfsTer?) c.130_143del (p.Pro44GlyfsTer?) c.103+632_103+645del (n.103+632_103+645del) | ClinVar dbSNP |
| 12 | g.51913170_51913185del | CA2580086428 | ACVRL1 | c.175_190del (p.Thr59GlyfsTer4) c.133_148del (p.Thr45GlyfsTer4) c.103+635_103+650del (n.103+635_103+650del) | ClinVar |
| 12 | g.51913164G>A | CA6572819 | ACVRL1 | c.169G>A (p.Gly57Arg) c.127G>A (p.Gly43Arg) c.103+629G>A (n.103+629G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51913164G>C | CA384897630 | ACVRL1 | c.169G>C (p.Gly57Arg) c.127G>C (p.Gly43Arg) c.103+629G>C (n.103+629G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51913164G= | CA2036266953 | ACVRL1 | c.169G= (p.Gly57=) c.127G= (p.Gly43=) c.103+629G= (n.103+629G=) | |
| 12 | g.51913164G>T | CA384897632 | ACVRL1 | c.169G>T (p.Gly57Trp) c.127G>T (p.Gly43Trp) c.103+629G>T (n.103+629G>T) | gnomAD v4 |
| 12 | g.51913165G>A | CA384897634 | ACVRL1 | c.170G>A (p.Gly57Glu) c.128G>A (p.Gly43Glu) c.103+630G>A (n.103+630G>A) | |
| 12 | g.51913165G>C | CA384897635 | ACVRL1 | c.170G>C (p.Gly57Ala) c.128G>C (p.Gly43Ala) c.103+630G>C (n.103+630G>C) | |
| 12 | g.51913165G= | CA2036266954 | ACVRL1 | c.170G= (p.Gly57=) c.128G= (p.Gly43=) c.103+630G= (n.103+630G=) | |
| 12 | g.51913165G>T | CA384897636 | ACVRL1 | c.170G>T (p.Gly57Val) c.128G>T (p.Gly43Val) c.103+630G>T (n.103+630G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51913165_51913169del | CA2580086429 | ACVRL1 | c.170_174del (p.Gly57AspfsTer?) c.128_132del (p.Gly43AspfsTer?) c.103+630_103+634del (n.103+630_103+634del) | ClinVar |
| 12 | g.51913166G>A | CA480063085 | ACVRL1 | c.171G>A (p.Gly57=) c.129G>A (p.Gly43=) c.103+631G>A (n.103+631G>A) | gnomAD v4 |
| 12 | g.51913166G>C | CA480063086 | ACVRL1 | c.171G>C (p.Gly57=) c.129G>C (p.Gly43=) c.103+631G>C (n.103+631G>C) | |
| 12 | g.51913166G>T | CA480063087 | ACVRL1 | c.171G>T (p.Gly57=) c.129G>T (p.Gly43=) c.103+631G>T (n.103+631G>T) | gnomAD v4 |
| 12 | g.51913167C>A | CA384897639 | ACVRL1 | c.172C>A (p.Pro58Thr) c.130C>A (p.Pro44Thr) c.103+632C>A (n.103+632C>A) | gnomAD v4 |
| 12 | g.51913167C= | CA2036266956 | ACVRL1 | c.172C= (p.Pro58=) c.130C= (p.Pro44=) c.103+632C= (n.103+632C=) | |
| 12 | g.51913167C>G | CA384897638 | ACVRL1 | c.172C>G (p.Pro58Ala) c.130C>G (p.Pro44Ala) c.103+632C>G (n.103+632C>G) | |
| 12 | g.51913167C>T | CA6572820 | ACVRL1 | c.172C>T (p.Pro58Ser) c.130C>T (p.Pro44Ser) c.103+632C>T (n.103+632C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51913167_51913183delinsTGCACAGTAGTG | CA2580086430 | ACVRL1 | c.172_188delinsTGCACAGTAGTG (p.Pro58CysfsTer?) c.130_146delinsTGCACAGTAGTG (p.Pro44CysfsTer?) c.103+632_103+648delinsTGCACAGTAGTG (n.103+632_103+648delinsTGCACAGTAGTG) | ClinVar |
| 12 | g.51913168C>A | CA384897641 | ACVRL1 | c.173C>A (p.Pro58His) c.131C>A (p.Pro44His) c.103+633C>A (n.103+633C>A) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51913168C= | CA2036266960 | ACVRL1 | c.173C= (p.Pro58=) c.131C= (p.Pro44=) c.103+633C= (n.103+633C=) | |
| 12 | g.51913168C>G | CA384897643 | ACVRL1 | c.173C>G (p.Pro58Arg) c.131C>G (p.Pro44Arg) c.103+633C>G (n.103+633C>G) | |
| 12 | g.51913168C>T | CA384897645 | ACVRL1 | c.173C>T (p.Pro58Leu) c.131C>T (p.Pro44Leu) c.103+633C>T (n.103+633C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51913168_51913169insCACA | CA2499221744 | ACVRL1 | c.173_174insCACA (p.Cys60TyrfsTer?) c.131_132insCACA (p.Cys46TyrfsTer?) c.103+633_103+634insCACA (n.103+633_103+634insCACA) | ClinVar dbSNP |
| 12 | g.51913169T>A | CA480063090 | ACVRL1 | c.174T>A (p.Pro58=) c.132T>A (p.Pro44=) c.103+634T>A (n.103+634T>A) | |
| 12 | g.51913169T>C | CA480063091 | ACVRL1 | c.174T>C (p.Pro58=) c.132T>C (p.Pro44=) c.103+634T>C (n.103+634T>C) | gnomAD v4 |
| 12 | g.51913169T>G | CA480063089 | ACVRL1 | c.174T>G (p.Pro58=) c.132T>G (p.Pro44=) c.103+634T>G (n.103+634T>G) | |
| 12 | g.51913169delinsCACATTGCAAGGTGCAAGGGTGC | CA2580086432 | ACVRL1 | c.174delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys60LeufsTer?) c.132delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys46LeufsTer?) c.103+634delinsCACATTGCAAGGTGCAAGGGTGC (n.103+634delinsCACATTGCAAGGTGCAAGGGTGC) | ClinVar |
| 12 | g.51913170A>C | CA384897648 | ACVRL1 | c.175A>C (p.Thr59Pro) c.133A>C (p.Thr45Pro) c.103+635A>C (n.103+635A>C) | |
| 12 | g.51913170A>G | CA384897650 | ACVRL1 | c.175A>G (p.Thr59Ala) c.133A>G (p.Thr45Ala) c.103+635A>G (n.103+635A>G) | |
| 12 | g.51913170A>T | CA384897651 | ACVRL1 | c.175A>T (p.Thr59Ser) c.133A>T (p.Thr45Ser) c.103+635A>T (n.103+635A>T) | |
| 12 | g.51913171C>A | CA384897655 | ACVRL1 | c.176C>A (p.Thr59Asn) c.134C>A (p.Thr45Asn) c.103+636C>A (n.103+636C>A) | COSMIC COSMIC |
| 12 | g.51913171C= | CA2036266961 | ACVRL1 | c.176C= (p.Thr59=) c.134C= (p.Thr45=) c.103+636C= (n.103+636C=) | |
| 12 | g.51913171C>G | CA384897653 | ACVRL1 | c.176C>G (p.Thr59Ser) c.134C>G (p.Thr45Ser) c.103+636C>G (n.103+636C>G) | |
| 12 | g.51913171C>T | CA6572821 | ACVRL1 | c.176C>T (p.Thr59Ile) c.134C>T (p.Thr45Ile) c.103+636C>T (n.103+636C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51913172C>A | CA480063092 | ACVRL1 | c.177C>A (p.Thr59=) c.135C>A (p.Thr45=) c.103+637C>A (n.103+637C>A) | |
| 12 | g.51913172C>G | CA480063093 | ACVRL1 | c.177C>G (p.Thr59=) c.135C>G (p.Thr45=) c.103+637C>G (n.103+637C>G) | |
| 12 | g.51913172C>T | CA480063095 | ACVRL1 | c.177C>T (p.Thr59=) c.135C>T (p.Thr45=) c.103+637C>T (n.103+637C>T) | |
| 12 | g.51913173T>A | CA384897657 | ACVRL1 | c.178T>A (p.Cys60Ser) c.136T>A (p.Cys46Ser) c.103+638T>A (n.103+638T>A) | |
| 12 | g.51913173T>C | CA384897660 | ACVRL1 | c.178T>C (p.Cys60Arg) c.136T>C (p.Cys46Arg) c.103+638T>C (n.103+638T>C) | |
| 12 | g.51913173T>G | CA384897661 | ACVRL1 | c.178T>G (p.Cys60Gly) c.136T>G (p.Cys46Gly) c.103+638T>G (n.103+638T>G) | |
| 12 | g.51913173_51913174delinsCT | CA2695216665 | ACVRL1 | c.178_179delinsCT (p.Cys60Leu) c.136_137delinsCT (p.Cys46Leu) c.103+638_103+639delinsCT (n.103+638_103+639delinsCT) | |
| 12 | g.51913174G>A | CA384897662 | ACVRL1 | c.179G>A (p.Cys60Tyr) c.137G>A (p.Cys46Tyr) c.103+639G>A (n.103+639G>A) | |
| 12 | g.51913174G>C | CA384897664 | ACVRL1 | c.179G>C (p.Cys60Ser) c.137G>C (p.Cys46Ser) c.103+639G>C (n.103+639G>C) | ClinVar dbSNP |
| 12 | g.51913174G= | CA2036266964 | ACVRL1 | c.179G= (p.Cys60=) c.137G= (p.Cys46=) c.103+639G= (n.103+639G=) |