WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.12813003_12813004del | CA2579747983 | USP9Y | c.4560_4561del (p.Gln1520HisfsTer7) n.4572_4573del c.4326_4327del (p.Gln1442HisfsTer7) c.4575_4576del (p.Gln1525HisfsTer7) | |
| Y | g.12813003G>A | CA519896340 | USP9Y | c.4560G>A (p.Gln1520=) n.4572G>A c.4326G>A (p.Gln1442=) c.4575G>A (p.Gln1525=) | |
| Y | g.12813003G>C | CA414992674 | USP9Y | c.4560G>C (p.Gln1520His) n.4572G>C c.4326G>C (p.Gln1442His) c.4575G>C (p.Gln1525His) | |
| Y | g.12813003G>T | CA414992676 | USP9Y | c.4560G>T (p.Gln1520His) n.4572G>T c.4326G>T (p.Gln1442His) c.4575G>T (p.Gln1525His) | |
| Y | g.12813004A>C | CA414992678 | USP9Y | c.4561A>C (p.Ile1521Leu) n.4573A>C c.4327A>C (p.Ile1443Leu) c.4576A>C (p.Ile1526Leu) | |
| Y | g.12813004A>G | CA414992681 | USP9Y | c.4561A>G (p.Ile1521Val) n.4573A>G c.4327A>G (p.Ile1443Val) c.4576A>G (p.Ile1526Val) | |
| Y | g.12813004A>T | CA414992680 | USP9Y | c.4561A>T (p.Ile1521Leu) n.4573A>T c.4327A>T (p.Ile1443Leu) c.4576A>T (p.Ile1526Leu) | |
| Y | g.12813005T>A | CA414992686 | USP9Y | c.4562T>A (p.Ile1521Lys) n.4574T>A c.4328T>A (p.Ile1443Lys) c.4577T>A (p.Ile1526Lys) | |
| Y | g.12813005T>C | CA414992692 | USP9Y | c.4562T>C (p.Ile1521Thr) n.4574T>C c.4328T>C (p.Ile1443Thr) c.4577T>C (p.Ile1526Thr) | |
| Y | g.12813005T>G | CA414992689 | USP9Y | c.4562T>G (p.Ile1521Arg) n.4574T>G c.4328T>G (p.Ile1443Arg) c.4577T>G (p.Ile1526Arg) | |
| Y | g.12813006A= | CA2470559353 | USP9Y | c.4563A= (p.Ile1521=) n.4575A= c.4329A= (p.Ile1443=) c.4578A= (p.Ile1526=) | |
| Y | g.12813006A>C | CA519896357 | USP9Y | c.4563A>C (p.Ile1521=) n.4575A>C c.4329A>C (p.Ile1443=) c.4578A>C (p.Ile1526=) | |
| Y | g.12813006A>G | CA10573334 | USP9Y | c.4563A>G (p.Ile1521Met) n.4575A>G c.4329A>G (p.Ile1443Met) c.4578A>G (p.Ile1526Met) | dbSNP ExAC gnomAD v2 |
| Y | g.12813006A>T | CA519896362 | USP9Y | c.4563A>T (p.Ile1521=) n.4575A>T c.4329A>T (p.Ile1443=) c.4578A>T (p.Ile1526=) | |
| Y | g.12813007G>A | CA414992705 | USP9Y | c.4564G>A (p.Val1522Ile) n.4576G>A c.4330G>A (p.Val1444Ile) c.4579G>A (p.Val1527Ile) | |
| Y | g.12813007G>C | CA414992708 | USP9Y | c.4564G>C (p.Val1522Leu) n.4576G>C c.4330G>C (p.Val1444Leu) c.4579G>C (p.Val1527Leu) | |
| Y | g.12813007G>T | CA414992710 | USP9Y | c.4564G>T (p.Val1522Leu) n.4576G>T c.4330G>T (p.Val1444Leu) c.4579G>T (p.Val1527Leu) | |
| Y | g.12813008T>A | CA414992713 | USP9Y | c.4565T>A (p.Val1522Glu) n.4577T>A c.4331T>A (p.Val1444Glu) c.4580T>A (p.Val1527Glu) | |
| Y | g.12813008T>C | CA414992715 | USP9Y | c.4565T>C (p.Val1522Ala) n.4577T>C c.4331T>C (p.Val1444Ala) c.4580T>C (p.Val1527Ala) | |
| Y | g.12813008T>G | CA414992719 | USP9Y | c.4565T>G (p.Val1522Gly) n.4577T>G c.4331T>G (p.Val1444Gly) c.4580T>G (p.Val1527Gly) | |
| Y | g.12813009A= | CA2470559354 | USP9Y | c.4566A= (p.Val1522=) n.4578A= c.4332A= (p.Val1444=) c.4581A= (p.Val1527=) | |
| Y | g.12813009A>C | CA519896384 | USP9Y | c.4566A>C (p.Val1522=) n.4578A>C c.4332A>C (p.Val1444=) c.4581A>C (p.Val1527=) | |
| Y | g.12813009A>G | CA519896382 | USP9Y | c.4566A>G (p.Val1522=) n.4578A>G c.4332A>G (p.Val1444=) c.4581A>G (p.Val1527=) | |
| Y | g.12813009A>T | CA519896380 | USP9Y | c.4566A>T (p.Val1522=) n.4578A>T c.4332A>T (p.Val1444=) c.4581A>T (p.Val1527=) | |
| Y | g.12813009_12813010insT | CA1139264734 | USP9Y | c.4566_4567insT (p.Asp1523Ter) n.4578_4579insT c.4332_4333insT (p.Asp1445Ter) c.4581_4582insT (p.Asp1528Ter) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.12813010G>A | CA414992722 | USP9Y | c.4567G>A (p.Asp1523Asn) n.4579G>A c.4333G>A (p.Asp1445Asn) c.4582G>A (p.Asp1528Asn) | |
| Y | g.12813010G>C | CA414992725 | USP9Y | c.4567G>C (p.Asp1523His) n.4579G>C c.4333G>C (p.Asp1445His) c.4582G>C (p.Asp1528His) | |
| Y | g.12813010G>T | CA414992729 | USP9Y | c.4567G>T (p.Asp1523Tyr) n.4579G>T c.4333G>T (p.Asp1445Tyr) c.4582G>T (p.Asp1528Tyr) | |
| Y | g.12813011A>C | CA414992737 | USP9Y | c.4568A>C (p.Asp1523Ala) n.4580A>C c.4334A>C (p.Asp1445Ala) c.4583A>C (p.Asp1528Ala) | |
| Y | g.12813011A>G | CA414992732 | USP9Y | c.4568A>G (p.Asp1523Gly) n.4580A>G c.4334A>G (p.Asp1445Gly) c.4583A>G (p.Asp1528Gly) | |
| Y | g.12813011A>T | CA414992734 | USP9Y | c.4568A>T (p.Asp1523Val) n.4580A>T c.4334A>T (p.Asp1445Val) c.4583A>T (p.Asp1528Val) | |
| Y | g.12813012C>A | CA414992741 | USP9Y | c.4569C>A (p.Asp1523Glu) n.4581C>A c.4335C>A (p.Asp1445Glu) c.4584C>A (p.Asp1528Glu) | |
| Y | g.12813012C>G | CA414992743 | USP9Y | c.4569C>G (p.Asp1523Glu) n.4581C>G c.4335C>G (p.Asp1445Glu) c.4584C>G (p.Asp1528Glu) | |
| Y | g.12813012C>T | CA519896400 | USP9Y | c.4569C>T (p.Asp1523=) n.4581C>T c.4335C>T (p.Asp1445=) c.4584C>T (p.Asp1528=) | |
| Y | g.12813013T>A | CA414992745 | USP9Y | c.4570T>A (p.Cys1524Ser) n.4582T>A c.4336T>A (p.Cys1446Ser) c.4585T>A (p.Cys1529Ser) | |
| Y | g.12813013T>C | CA414992747 | USP9Y | c.4570T>C (p.Cys1524Arg) n.4582T>C c.4336T>C (p.Cys1446Arg) c.4585T>C (p.Cys1529Arg) | |
| Y | g.12813013T>G | CA414992751 | USP9Y | c.4570T>G (p.Cys1524Gly) n.4582T>G c.4336T>G (p.Cys1446Gly) c.4585T>G (p.Cys1529Gly) | |
| Y | g.12813014G>A | CA414992753 | USP9Y | c.4571G>A (p.Cys1524Tyr) n.4583G>A c.4337G>A (p.Cys1446Tyr) c.4586G>A (p.Cys1529Tyr) | |
| Y | g.12813014G>C | CA414992756 | USP9Y | c.4571G>C (p.Cys1524Ser) n.4583G>C c.4337G>C (p.Cys1446Ser) c.4586G>C (p.Cys1529Ser) | |
| Y | g.12813014G>T | CA414992759 | USP9Y | c.4571G>T (p.Cys1524Phe) n.4583G>T c.4337G>T (p.Cys1446Phe) c.4586G>T (p.Cys1529Phe) | |
| Y | g.12813015T>A | CA414992762 | USP9Y | c.4572T>A (p.Cys1524Ter) n.4584T>A c.4338T>A (p.Cys1446Ter) c.4587T>A (p.Cys1529Ter) | |
| Y | g.12813015T>C | CA519896420 | USP9Y | c.4572T>C (p.Cys1524=) n.4584T>C c.4338T>C (p.Cys1446=) c.4587T>C (p.Cys1529=) | |
| Y | g.12813015T>G | CA414992764 | USP9Y | c.4572T>G (p.Cys1524Trp) n.4584T>G c.4338T>G (p.Cys1446Trp) c.4587T>G (p.Cys1529Trp) | |
| Y | g.12813016T>A | CA414992767 | USP9Y | c.4573T>A (p.Leu1525Met) n.4585T>A c.4339T>A (p.Leu1447Met) c.4588T>A (p.Leu1530Met) | |
| Y | g.12813016T>C | CA519896428 | USP9Y | c.4573T>C (p.Leu1525=) n.4585T>C c.4339T>C (p.Leu1447=) c.4588T>C (p.Leu1530=) | |
| Y | g.12813016T>G | CA414992770 | USP9Y | c.4573T>G (p.Leu1525Val) n.4585T>G c.4339T>G (p.Leu1447Val) c.4588T>G (p.Leu1530Val) | |
| Y | g.12813017T>A | CA414992772 | USP9Y | c.4574T>A (p.Leu1525Ter) n.4586T>A c.4340T>A (p.Leu1447Ter) c.4589T>A (p.Leu1530Ter) | |
| Y | g.12813017T>C | CA414992775 | USP9Y | c.4574T>C (p.Leu1525Ser) n.4586T>C c.4340T>C (p.Leu1447Ser) c.4589T>C (p.Leu1530Ser) | |
| Y | g.12813017T>G | CA414992778 | USP9Y | c.4574T>G (p.Leu1525Trp) n.4586T>G c.4340T>G (p.Leu1447Trp) c.4589T>G (p.Leu1530Trp) | |
| Y | g.12813018G>A | CA519896437 | USP9Y | c.4575G>A (p.Leu1525=) n.4587G>A c.4341G>A (p.Leu1447=) c.4590G>A (p.Leu1530=) |