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.51915290_51915298dup | CA2695216740 | ACVRL1 | c.568_576dup (p.His192_Gly193insHisGluHis) c.838_846dup (p.His282_Gly283insHisGluHis) c.316_324dup (p.His108_Gly109insHisGluHis) c.880_888dup (p.His296_Gly297insHisGluHis) c.49_57dup (p.His19_Gly20insHisGluHis) | |
| 12 | g.51915290_51915294del | CA2580086477 | ACVRL1 | c.568_572del (p.His190AlafsTer?) c.838_842del (p.His280AlafsTer?) c.316_320del (p.His106AlafsTer?) c.880_884del (p.His294AlafsTer?) c.49_53del (p.His17AlafsTer?) | ClinVar |
| 12 | g.51915293G>A | CA6573006 | ACVRL1 | c.571G>A (p.Glu191Lys) c.841G>A (p.Glu281Lys) c.319G>A (p.Glu107Lys) c.883G>A (p.Glu295Lys) c.52G>A (p.Glu18Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915293G>C | CA384900515 | ACVRL1 | c.571G>C (p.Glu191Gln) c.841G>C (p.Glu281Gln) c.319G>C (p.Glu107Gln) c.883G>C (p.Glu295Gln) c.52G>C (p.Glu18Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915293G= | CA2036269446 | ACVRL1 | c.571G= (p.Glu191=) c.841G= (p.Glu281=) c.319G= (p.Glu107=) c.883G= (p.Glu295=) c.52G= (p.Glu18=) | |
| 12 | g.51915293G>T | CA16613819 | ACVRL1 | c.571G>T (p.Glu191Ter) c.841G>T (p.Glu281Ter) c.319G>T (p.Glu107Ter) c.883G>T (p.Glu295Ter) c.52G>T (p.Glu18Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915294del | CA2695216741 | ACVRL1 | c.572del (p.Glu191GlyfsTer20) c.842del (p.Glu281GlyfsTer20) c.320del (p.Glu107GlyfsTer20) c.884del (p.Glu295GlyfsTer20) c.53del (p.Glu18GlyfsTer20) | |
| 12 | g.51915294A>C | CA384900517 | ACVRL1 | c.572A>C (p.Glu191Ala) c.842A>C (p.Glu281Ala) c.320A>C (p.Glu107Ala) c.884A>C (p.Glu295Ala) c.53A>C (p.Glu18Ala) | |
| 12 | g.51915294A>G | CA384900520 | ACVRL1 | c.572A>G (p.Glu191Gly) c.842A>G (p.Glu281Gly) c.320A>G (p.Glu107Gly) c.884A>G (p.Glu295Gly) c.53A>G (p.Glu18Gly) | |
| 12 | g.51915294A>T | CA384900519 | ACVRL1 | c.572A>T (p.Glu191Val) c.842A>T (p.Glu281Val) c.320A>T (p.Glu107Val) c.884A>T (p.Glu295Val) c.53A>T (p.Glu18Val) | |
| 12 | g.51915295G>A | CA480063166 | ACVRL1 | c.573G>A (p.Glu191=) c.843G>A (p.Glu281=) c.321G>A (p.Glu107=) c.885G>A (p.Glu295=) c.54G>A (p.Glu18=) | ClinVar gnomAD v4 |
| 12 | g.51915295G>C | CA384900522 | ACVRL1 | c.573G>C (p.Glu191Asp) c.843G>C (p.Glu281Asp) c.321G>C (p.Glu107Asp) c.885G>C (p.Glu295Asp) c.54G>C (p.Glu18Asp) | |
| 12 | g.51915295G>T | CA384900524 | ACVRL1 | c.573G>T (p.Glu191Asp) c.843G>T (p.Glu281Asp) c.321G>T (p.Glu107Asp) c.885G>T (p.Glu295Asp) c.54G>T (p.Glu18Asp) | COSMIC COSMIC |
| 12 | g.51915296C>A | CA384900526 | ACVRL1 | c.574C>A (p.His192Asn) c.844C>A (p.His282Asn) c.322C>A (p.His108Asn) c.886C>A (p.His296Asn) c.55C>A (p.His19Asn) | |
| 12 | g.51915296C>G | CA384900528 | ACVRL1 | c.574C>G (p.His192Asp) c.844C>G (p.His282Asp) c.322C>G (p.His108Asp) c.886C>G (p.His296Asp) c.55C>G (p.His19Asp) | |
| 12 | g.51915296C>T | CA384900527 | ACVRL1 | c.574C>T (p.His192Tyr) c.844C>T (p.His282Tyr) c.322C>T (p.His108Tyr) c.886C>T (p.His296Tyr) c.55C>T (p.His19Tyr) | gnomAD v4 |
| 12 | g.51915297A>C | CA384900531 | ACVRL1 | c.575A>C (p.His192Pro) c.845A>C (p.His282Pro) c.323A>C (p.His108Pro) c.887A>C (p.His296Pro) c.56A>C (p.His19Pro) | |
| 12 | g.51915297A>G | CA384900532 | ACVRL1 | c.575A>G (p.His192Arg) c.845A>G (p.His282Arg) c.323A>G (p.His108Arg) c.887A>G (p.His296Arg) c.56A>G (p.His19Arg) | |
| 12 | g.51915297A>T | CA384900534 | ACVRL1 | c.575A>T (p.His192Leu) c.845A>T (p.His282Leu) c.323A>T (p.His108Leu) c.887A>T (p.His296Leu) c.56A>T (p.His19Leu) | |
| 12 | g.51915298C>A | CA384900535 | ACVRL1 | c.576C>A (p.His192Gln) c.846C>A (p.His282Gln) c.324C>A (p.His108Gln) c.888C>A (p.His296Gln) c.57C>A (p.His19Gln) | gnomAD v4 |
| 12 | g.51915298C= | CA2036269447 | ACVRL1 | c.576C= (p.His192=) c.846C= (p.His282=) c.324C= (p.His108=) c.888C= (p.His296=) c.57C= (p.His19=) | |
| 12 | g.51915298C>G | CA384900536 | ACVRL1 | c.576C>G (p.His192Gln) c.846C>G (p.His282Gln) c.324C>G (p.His108Gln) c.888C>G (p.His296Gln) c.57C>G (p.His19Gln) | |
| 12 | g.51915298C>T | CA6573007 | ACVRL1 | c.576C>T (p.His192=) c.846C>T (p.His282=) c.324C>T (p.His108=) c.888C>T (p.His296=) c.57C>T (p.His19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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=) |