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 |
|---|---|---|---|---|---|
| 3 | g.186620640_186620650del | CA2668956815 | AHSG | c.814_824del (p.Val272ArgfsTer?) c.817_827del (p.Val273ArgfsTer?) c.811_821del (p.Val271ArgfsTer?) c.730_740del (p.Val244ArgfsTer?) | gnomAD v4 |
| 3 | g.186620644T>A | CA355715600 | AHSG | c.818T>A (p.Val273Glu) c.821T>A (p.Val274Glu) c.815T>A (p.Val272Glu) c.734T>A (p.Val245Glu) | |
| 3 | g.186620644T>C | CA355715601 | AHSG | c.818T>C (p.Val273Ala) c.821T>C (p.Val274Ala) c.815T>C (p.Val272Ala) c.734T>C (p.Val245Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.186620644T>G | CA355715602 | AHSG | c.818T>G (p.Val273Gly) c.821T>G (p.Val274Gly) c.815T>G (p.Val272Gly) c.734T>G (p.Val245Gly) | gnomAD v4 |
| 3 | g.186620644T= | CA1427019584 | AHSG | c.818T= (p.Val273=) c.821T= (p.Val274=) c.815T= (p.Val272=) c.734T= (p.Val245=) | |
| 3 | g.186620645G>A | CA437358373 | AHSG | c.819G>A (p.Val273=) c.822G>A (p.Val274=) c.816G>A (p.Val272=) c.735G>A (p.Val245=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.186620645G>C | CA437358374 | AHSG | c.819G>C (p.Val273=) c.822G>C (p.Val274=) c.816G>C (p.Val272=) c.735G>C (p.Val245=) | |
| 3 | g.186620645G= | CA1427019585 | AHSG | c.819G= (p.Val273=) c.822G= (p.Val274=) c.816G= (p.Val272=) c.735G= (p.Val245=) | |
| 3 | g.186620645G>T | CA437358375 | AHSG | c.819G>T (p.Val273=) c.822G>T (p.Val274=) c.816G>T (p.Val272=) c.735G>T (p.Val245=) | |
| 3 | g.186620646G>A | CA355715605 | AHSG | c.820G>A (p.Asp274Asn) c.823G>A (p.Asp275Asn) c.817G>A (p.Asp273Asn) c.736G>A (p.Asp246Asn) | gnomAD v4 |
| 3 | g.186620646G>C | CA355715603 | AHSG | c.820G>C (p.Asp274His) c.823G>C (p.Asp275His) c.817G>C (p.Asp273His) c.736G>C (p.Asp246His) | |
| 3 | g.186620646G>T | CA355715604 | AHSG | c.820G>T (p.Asp274Tyr) c.823G>T (p.Asp275Tyr) c.817G>T (p.Asp273Tyr) c.736G>T (p.Asp246Tyr) | |
| 3 | g.186620647A>C | CA355715606 | AHSG | c.821A>C (p.Asp274Ala) c.824A>C (p.Asp275Ala) c.818A>C (p.Asp273Ala) c.737A>C (p.Asp246Ala) | |
| 3 | g.186620647A>G | CA355715607 | AHSG | c.821A>G (p.Asp274Gly) c.824A>G (p.Asp275Gly) c.818A>G (p.Asp273Gly) c.737A>G (p.Asp246Gly) | |
| 3 | g.186620647A>T | CA355715608 | AHSG | c.821A>T (p.Asp274Val) c.824A>T (p.Asp275Val) c.818A>T (p.Asp273Val) c.737A>T (p.Asp246Val) | |
| 3 | g.186620648C>A | CA355715609 | AHSG | c.822C>A (p.Asp274Glu) c.825C>A (p.Asp275Glu) c.819C>A (p.Asp273Glu) c.738C>A (p.Asp246Glu) | |
| 3 | g.186620648C>G | CA355715610 | AHSG | c.822C>G (p.Asp274Glu) c.825C>G (p.Asp275Glu) c.819C>G (p.Asp273Glu) c.738C>G (p.Asp246Glu) | |
| 3 | g.186620648C>T | CA437358383 | AHSG | c.822C>T (p.Asp274=) c.825C>T (p.Asp275=) c.819C>T (p.Asp273=) c.738C>T (p.Asp246=) | gnomAD v4 |
| 3 | g.186620649C>A | CA355715611 | AHSG | c.823C>A (p.Pro275Thr) c.826C>A (p.Pro276Thr) c.820C>A (p.Pro274Thr) c.739C>A (p.Pro247Thr) | |
| 3 | g.186620649C>G | CA355715613 | AHSG | c.823C>G (p.Pro275Ala) c.826C>G (p.Pro276Ala) c.820C>G (p.Pro274Ala) c.739C>G (p.Pro247Ala) | |
| 3 | g.186620649C>T | CA355715612 | AHSG | c.823C>T (p.Pro275Ser) c.826C>T (p.Pro276Ser) c.820C>T (p.Pro274Ser) c.739C>T (p.Pro247Ser) | gnomAD v4 |
| 3 | g.186620650C>A | CA2745049 | AHSG | c.824C>A (p.Pro275Gln) c.827C>A (p.Pro276Gln) c.821C>A (p.Pro274Gln) c.740C>A (p.Pro247Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.186620650C= | CA1427019586 | AHSG | c.824C= (p.Pro275=) c.827C= (p.Pro276=) c.821C= (p.Pro274=) c.740C= (p.Pro247=) | |
| 3 | g.186620650C>G | CA355715614 | AHSG | c.824C>G (p.Pro275Arg) c.827C>G (p.Pro276Arg) c.821C>G (p.Pro274Arg) c.740C>G (p.Pro247Arg) | |
| 3 | g.186620650C>T | CA355715615 | AHSG | c.824C>T (p.Pro275Leu) c.827C>T (p.Pro276Leu) c.821C>T (p.Pro274Leu) c.740C>T (p.Pro247Leu) | |
| 3 | g.186620651A>C | CA437358387 | AHSG | c.825A>C (p.Pro275=) c.828A>C (p.Pro276=) c.822A>C (p.Pro274=) c.741A>C (p.Pro247=) | |
| 3 | g.186620651A>G | CA437358389 | AHSG | c.825A>G (p.Pro275=) c.828A>G (p.Pro276=) c.822A>G (p.Pro274=) c.741A>G (p.Pro247=) | gnomAD v4 |
| 3 | g.186620651A>T | CA437358390 | AHSG | c.825A>T (p.Pro275=) c.828A>T (p.Pro276=) c.822A>T (p.Pro274=) c.741A>T (p.Pro247=) | |
| 3 | g.186620652G>A | CA2745050 | AHSG | c.826G>A (p.Asp276Asn) c.829G>A (p.Asp277Asn) c.823G>A (p.Asp275Asn) c.742G>A (p.Asp248Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.186620652G>C | CA355715616 | AHSG | c.826G>C (p.Asp276His) c.829G>C (p.Asp277His) c.823G>C (p.Asp275His) c.742G>C (p.Asp248His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.186620652G= | CA1427019587 | AHSG | c.826G= (p.Asp276=) c.829G= (p.Asp277=) c.823G= (p.Asp275=) c.742G= (p.Asp248=) | |
| 3 | g.186620652G>T | CA355715617 | AHSG | c.826G>T (p.Asp276Tyr) c.829G>T (p.Asp277Tyr) c.823G>T (p.Asp275Tyr) c.742G>T (p.Asp248Tyr) | |
| 3 | g.186620653A>C | CA355715618 | AHSG | c.827A>C (p.Asp276Ala) c.830A>C (p.Asp277Ala) c.824A>C (p.Asp275Ala) c.743A>C (p.Asp248Ala) | |
| 3 | g.186620653A>G | CA355715619 | AHSG | c.827A>G (p.Asp276Gly) c.830A>G (p.Asp277Gly) c.824A>G (p.Asp275Gly) c.743A>G (p.Asp248Gly) | |
| 3 | g.186620653A>T | CA355715620 | AHSG | c.827A>T (p.Asp276Val) c.830A>T (p.Asp277Val) c.824A>T (p.Asp275Val) c.743A>T (p.Asp248Val) | |
| 3 | g.186620654T>A | CA355715621 | AHSG | c.828T>A (p.Asp276Glu) c.831T>A (p.Asp277Glu) c.825T>A (p.Asp275Glu) c.744T>A (p.Asp248Glu) | |
| 3 | g.186620654T>C | CA437358394 | AHSG | c.828T>C (p.Asp276=) c.831T>C (p.Asp277=) c.825T>C (p.Asp275=) c.744T>C (p.Asp248=) | |
| 3 | g.186620654T>G | CA355715622 | AHSG | c.828T>G (p.Asp276Glu) c.831T>G (p.Asp277Glu) c.825T>G (p.Asp275Glu) c.744T>G (p.Asp248Glu) | |
| 3 | g.186620655G>A | CA89628753 | AHSG | c.829G>A (p.Ala277Thr) c.832G>A (p.Ala278Thr) c.826G>A (p.Ala276Thr) c.745G>A (p.Ala249Thr) | dbSNP gnomAD v4 |
| 3 | g.186620655G>C | CA355715624 | AHSG | c.829G>C (p.Ala277Pro) c.832G>C (p.Ala278Pro) c.826G>C (p.Ala276Pro) c.745G>C (p.Ala249Pro) | |
| 3 | g.186620655G= | CA1427019588 | AHSG | c.829G= (p.Ala277=) c.832G= (p.Ala278=) c.826G= (p.Ala276=) c.745G= (p.Ala249=) | |
| 3 | g.186620655G>T | CA355715623 | AHSG | c.829G>T (p.Ala277Ser) c.832G>T (p.Ala278Ser) c.826G>T (p.Ala276Ser) c.745G>T (p.Ala249Ser) | gnomAD v4 |
| 3 | g.186620656C>A | CA355715625 | AHSG | c.830C>A (p.Ala277Glu) c.833C>A (p.Ala278Glu) c.827C>A (p.Ala276Glu) c.746C>A (p.Ala249Glu) | |
| 3 | g.186620656C>G | CA355715626 | AHSG | c.830C>G (p.Ala277Gly) c.833C>G (p.Ala278Gly) c.827C>G (p.Ala276Gly) c.746C>G (p.Ala249Gly) | |
| 3 | g.186620656C>T | CA355715627 | AHSG | c.830C>T (p.Ala277Val) c.833C>T (p.Ala278Val) c.827C>T (p.Ala276Val) c.746C>T (p.Ala249Val) | |
| 3 | g.186620657A= | CA1427019589 | AHSG | c.831A= (p.Ala277=) c.834A= (p.Ala278=) c.828A= (p.Ala276=) c.747A= (p.Ala249=) | |
| 3 | g.186620657A>C | CA437358400 | AHSG | c.831A>C (p.Ala277=) c.834A>C (p.Ala278=) c.828A>C (p.Ala276=) c.747A>C (p.Ala249=) | |
| 3 | g.186620657A>G | CA437358401 | AHSG | c.831A>G (p.Ala277=) c.834A>G (p.Ala278=) c.828A>G (p.Ala276=) c.747A>G (p.Ala249=) | |
| 3 | g.186620657A>T | CA437358402 | AHSG | c.831A>T (p.Ala277=) c.834A>T (p.Ala278=) c.828A>T (p.Ala276=) c.747A>T (p.Ala249=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.186620658C>A | CA355715628 | AHSG | c.832C>A (p.Pro278Thr) c.835C>A (p.Pro279Thr) c.829C>A (p.Pro277Thr) c.748C>A (p.Pro250Thr) | dbSNP |