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.51915299_51915303del | CA2575161492 | ACVRL1 | c.577_581del (p.Gly193ProfsTer?) c.847_851del (p.Gly283ProfsTer?) c.325_329del (p.Gly109ProfsTer?) c.889_893del (p.Gly297ProfsTer?) c.58_62del (p.Gly20ProfsTer?) | |
| 12 | g.51915298_51915305delinsCGGCTCCC | CA2036269448 | ACVRL1 | c.576_583delinsCGGCTCCC (p.His192=) c.846_853delinsCGGCTCCC (p.His282=) c.324_331delinsCGGCTCCC (p.His108=) c.888_895delinsCGGCTCCC (p.His296=) c.57_64delinsCGGCTCCC (p.His19=) | |
| 12 | g.51915299G>A | CA384900538 | ACVRL1 | c.577G>A (p.Gly193Ser) c.847G>A (p.Gly283Ser) c.325G>A (p.Gly109Ser) c.889G>A (p.Gly297Ser) c.58G>A (p.Gly20Ser) | ClinVar gnomAD v4 |
| 12 | g.51915299G>C | CA384900540 | ACVRL1 | c.577G>C (p.Gly193Arg) c.847G>C (p.Gly283Arg) c.325G>C (p.Gly109Arg) c.889G>C (p.Gly297Arg) c.58G>C (p.Gly20Arg) | gnomAD v4 |
| 12 | g.51915299G>T | CA384900542 | ACVRL1 | c.577G>T (p.Gly193Cys) c.847G>T (p.Gly283Cys) c.325G>T (p.Gly109Cys) c.889G>T (p.Gly297Cys) c.58G>T (p.Gly20Cys) | |
| 12 | g.51915299_51915305delinsTT | CA1139662700 | ACVRL1 | c.577_583delinsTT (p.Gly193PhefsTer?) c.847_853delinsTT (p.Gly283PhefsTer?) c.325_331delinsTT (p.Gly109PhefsTer?) c.889_895delinsTT (p.Gly297PhefsTer?) c.58_64delinsTT (p.Gly20PhefsTer?) | ClinVar dbSNP |
| 12 | g.51915303_51915357del | CA2739272048 | ACVRL1 | c.581_635del (p.Ser194Ter) c.851_905del (p.Ser284Ter) c.329_383del (p.Ser110Ter) c.893_947del (p.Ser298Ter) c.62_116del (p.Ser21Ter) | ClinVar |
| 12 | g.51915300G>A | CA384900543 | ACVRL1 | c.578G>A (p.Gly193Asp) c.848G>A (p.Gly283Asp) c.326G>A (p.Gly109Asp) c.890G>A (p.Gly297Asp) c.59G>A (p.Gly20Asp) | COSMIC |
| 12 | g.51915300G>C | CA384900544 | ACVRL1 | c.578G>C (p.Gly193Ala) c.848G>C (p.Gly283Ala) c.326G>C (p.Gly109Ala) c.890G>C (p.Gly297Ala) c.59G>C (p.Gly20Ala) | |
| 12 | g.51915300G= | CA2036269449 | ACVRL1 | c.578G= (p.Gly193=) c.848G= (p.Gly283=) c.326G= (p.Gly109=) c.890G= (p.Gly297=) c.59G= (p.Gly20=) | |
| 12 | g.51915300G>T | CA384900547 | ACVRL1 | c.578G>T (p.Gly193Val) c.848G>T (p.Gly283Val) c.326G>T (p.Gly109Val) c.890G>T (p.Gly297Val) c.59G>T (p.Gly20Val) | ClinVar dbSNP |
| 12 | g.51915301C>A | CA480063167 | ACVRL1 | c.579C>A (p.Gly193=) c.849C>A (p.Gly283=) c.327C>A (p.Gly109=) c.891C>A (p.Gly297=) c.60C>A (p.Gly20=) | |
| 12 | g.51915301C= | CA2036269450 | ACVRL1 | c.579C= (p.Gly193=) c.849C= (p.Gly283=) c.327C= (p.Gly109=) c.891C= (p.Gly297=) c.60C= (p.Gly20=) | |
| 12 | g.51915301C>G | CA480063169 | ACVRL1 | c.579C>G (p.Gly193=) c.849C>G (p.Gly283=) c.327C>G (p.Gly109=) c.891C>G (p.Gly297=) c.60C>G (p.Gly20=) | |
| 12 | g.51915301C>T | CA480063168 | ACVRL1 | c.579C>T (p.Gly193=) c.849C>T (p.Gly283=) c.327C>T (p.Gly109=) c.891C>T (p.Gly297=) c.60C>T (p.Gly20=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915302T>A | CA384900548 | ACVRL1 | c.580T>A (p.Ser194Thr) c.850T>A (p.Ser284Thr) c.328T>A (p.Ser110Thr) c.892T>A (p.Ser298Thr) c.61T>A (p.Ser21Thr) | |
| 12 | g.51915302T>C | CA384900551 | ACVRL1 | c.580T>C (p.Ser194Pro) c.850T>C (p.Ser284Pro) c.328T>C (p.Ser110Pro) c.892T>C (p.Ser298Pro) c.61T>C (p.Ser21Pro) | ClinVar |
| 12 | g.51915302T>G | CA384900550 | ACVRL1 | c.580T>G (p.Ser194Ala) c.850T>G (p.Ser284Ala) c.328T>G (p.Ser110Ala) c.892T>G (p.Ser298Ala) c.61T>G (p.Ser21Ala) | dbSNP |
| 12 | g.51915302T= | CA2036269451 | ACVRL1 | c.580T= (p.Ser194=) c.850T= (p.Ser284=) c.328T= (p.Ser110=) c.892T= (p.Ser298=) c.61T= (p.Ser21=) | |
| 12 | g.51915303C>A | CA384900553 | ACVRL1 | c.581C>A (p.Ser194Tyr) c.851C>A (p.Ser284Tyr) c.329C>A (p.Ser110Tyr) c.893C>A (p.Ser298Tyr) c.62C>A (p.Ser21Tyr) | |
| 12 | g.51915303C= | CA2036269452 | ACVRL1 | c.581C= (p.Ser194=) c.851C= (p.Ser284=) c.329C= (p.Ser110=) c.893C= (p.Ser298=) c.62C= (p.Ser21=) | |
| 12 | g.51915303C>G | CA6573008 | ACVRL1 | c.581C>G (p.Ser194Cys) c.851C>G (p.Ser284Cys) c.329C>G (p.Ser110Cys) c.893C>G (p.Ser298Cys) c.62C>G (p.Ser21Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915303C>T | CA384900555 | ACVRL1 | c.581C>T (p.Ser194Phe) c.851C>T (p.Ser284Phe) c.329C>T (p.Ser110Phe) c.893C>T (p.Ser298Phe) c.62C>T (p.Ser21Phe) | ClinVar dbSNP |
| 12 | g.51915305dup | CA2695216742 | ACVRL1 | c.583dup (p.Leu195ProfsTer?) c.853dup (p.Leu285ProfsTer?) c.331dup (p.Leu111ProfsTer?) c.895dup (p.Leu299ProfsTer?) c.64dup (p.Leu22ProfsTer?) | |
| 12 | g.51915304C>A | CA480063170 | ACVRL1 | c.582C>A (p.Ser194=) c.852C>A (p.Ser284=) c.330C>A (p.Ser110=) c.894C>A (p.Ser298=) c.63C>A (p.Ser21=) | |
| 12 | g.51915304C>G | CA480063171 | ACVRL1 | c.582C>G (p.Ser194=) c.852C>G (p.Ser284=) c.330C>G (p.Ser110=) c.894C>G (p.Ser298=) c.63C>G (p.Ser21=) | |
| 12 | g.51915304C>T | CA480063172 | ACVRL1 | c.582C>T (p.Ser194=) c.852C>T (p.Ser284=) c.330C>T (p.Ser110=) c.894C>T (p.Ser298=) c.63C>T (p.Ser21=) | |
| 12 | g.51915305C>A | CA384900559 | ACVRL1 | c.583C>A (p.Leu195Ile) c.853C>A (p.Leu285Ile) c.331C>A (p.Leu111Ile) c.895C>A (p.Leu299Ile) c.64C>A (p.Leu22Ile) | |
| 12 | g.51915305C= | CA2036269453 | ACVRL1 | c.583C= (p.Leu195=) c.853C= (p.Leu285=) c.331C= (p.Leu111=) c.895C= (p.Leu299=) c.64C= (p.Leu22=) | |
| 12 | g.51915305C>G | CA384900560 | ACVRL1 | c.583C>G (p.Leu195Val) c.853C>G (p.Leu285Val) c.331C>G (p.Leu111Val) c.895C>G (p.Leu299Val) c.64C>G (p.Leu22Val) | |
| 12 | g.51915305C>T | CA384900562 | ACVRL1 | c.583C>T (p.Leu195Phe) c.853C>T (p.Leu285Phe) c.331C>T (p.Leu111Phe) c.895C>T (p.Leu299Phe) c.64C>T (p.Leu22Phe) | ClinVar dbSNP |
| 12 | g.51915306T>A | CA384900564 | ACVRL1 | c.584T>A (p.Leu195His) c.854T>A (p.Leu285His) c.332T>A (p.Leu111His) c.896T>A (p.Leu299His) c.65T>A (p.Leu22His) | |
| 12 | g.51915306T>C | CA384900566 | ACVRL1 | c.584T>C (p.Leu195Pro) c.854T>C (p.Leu285Pro) c.332T>C (p.Leu111Pro) c.896T>C (p.Leu299Pro) c.65T>C (p.Leu22Pro) | ClinVar dbSNP |
| 12 | g.51915306T>G | CA384900568 | ACVRL1 | c.584T>G (p.Leu195Arg) c.854T>G (p.Leu285Arg) c.332T>G (p.Leu111Arg) c.896T>G (p.Leu299Arg) c.65T>G (p.Leu22Arg) | |
| 12 | g.51915306T= | CA2036269454 | ACVRL1 | c.584T= (p.Leu195=) c.854T= (p.Leu285=) c.332T= (p.Leu111=) c.896T= (p.Leu299=) c.65T= (p.Leu22=) | |
| 12 | g.51915307C>A | CA480063173 | ACVRL1 | c.585C>A (p.Leu195=) c.855C>A (p.Leu285=) c.333C>A (p.Leu111=) c.897C>A (p.Leu299=) c.66C>A (p.Leu22=) | |
| 12 | g.51915307C>G | CA480063174 | ACVRL1 | c.585C>G (p.Leu195=) c.855C>G (p.Leu285=) c.333C>G (p.Leu111=) c.897C>G (p.Leu299=) c.66C>G (p.Leu22=) | |
| 12 | g.51915307C>T | CA480063175 | ACVRL1 | c.585C>T (p.Leu195=) c.855C>T (p.Leu285=) c.333C>T (p.Leu111=) c.897C>T (p.Leu299=) c.66C>T (p.Leu22=) | |
| 12 | g.51915308T>A | CA384900572 | ACVRL1 | c.586T>A (p.Tyr196Asn) c.856T>A (p.Tyr286Asn) c.334T>A (p.Tyr112Asn) c.898T>A (p.Tyr300Asn) c.67T>A (p.Tyr23Asn) | |
| 12 | g.51915308T>C | CA384900571 | ACVRL1 | c.586T>C (p.Tyr196His) c.856T>C (p.Tyr286His) c.334T>C (p.Tyr112His) c.898T>C (p.Tyr300His) c.67T>C (p.Tyr23His) | gnomAD v4 |
| 12 | g.51915308T>G | CA384900569 | ACVRL1 | c.586T>G (p.Tyr196Asp) c.856T>G (p.Tyr286Asp) c.334T>G (p.Tyr112Asp) c.898T>G (p.Tyr300Asp) c.67T>G (p.Tyr23Asp) | |
| 12 | g.51915309A>C | CA384900573 | ACVRL1 | c.587A>C (p.Tyr196Ser) c.857A>C (p.Tyr286Ser) c.335A>C (p.Tyr112Ser) c.899A>C (p.Tyr300Ser) c.68A>C (p.Tyr23Ser) | |
| 12 | g.51915309A>G | CA384900574 | ACVRL1 | c.587A>G (p.Tyr196Cys) c.857A>G (p.Tyr286Cys) c.335A>G (p.Tyr112Cys) c.899A>G (p.Tyr300Cys) c.68A>G (p.Tyr23Cys) | |
| 12 | g.51915309A>T | CA384900575 | ACVRL1 | c.587A>T (p.Tyr196Phe) c.857A>T (p.Tyr286Phe) c.335A>T (p.Tyr112Phe) c.899A>T (p.Tyr300Phe) c.68A>T (p.Tyr23Phe) | |
| 12 | g.51915310C>A | CA384900576 | ACVRL1 | c.588C>A (p.Tyr196Ter) c.858C>A (p.Tyr286Ter) c.336C>A (p.Tyr112Ter) c.900C>A (p.Tyr300Ter) c.69C>A (p.Tyr23Ter) | ClinVar dbSNP |
| 12 | g.51915310C= | CA2036269455 | ACVRL1 | c.588C= (p.Tyr196=) c.858C= (p.Tyr286=) c.336C= (p.Tyr112=) c.900C= (p.Tyr300=) c.69C= (p.Tyr23=) | |
| 12 | g.51915310C>G | CA384900578 | ACVRL1 | c.588C>G (p.Tyr196Ter) c.858C>G (p.Tyr286Ter) c.336C>G (p.Tyr112Ter) c.900C>G (p.Tyr300Ter) c.69C>G (p.Tyr23Ter) | |
| 12 | g.51915310C>T | CA6573009 | ACVRL1 | c.588C>T (p.Tyr196=) c.858C>T (p.Tyr286=) c.336C>T (p.Tyr112=) c.900C>T (p.Tyr300=) c.69C>T (p.Tyr23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915310_51915311insA | CA2580086478 | ACVRL1 | c.588_589insA (p.Asp197ArgfsTer?) c.858_859insA (p.Asp287ArgfsTer?) c.336_337insA (p.Asp113ArgfsTer?) c.900_901insA (p.Asp301ArgfsTer?) c.69_70insA (p.Asp24ArgfsTer?) | ClinVar |
| 12 | g.51915311G>A | CA384900580 | ACVRL1 | c.589G>A (p.Asp197Asn) c.859G>A (p.Asp287Asn) c.337G>A (p.Asp113Asn) c.901G>A (p.Asp301Asn) c.70G>A (p.Asp24Asn) |