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.12735683dup | CA1139600272 | USP9Y | c.729dup (p.Asn244Ter) n.741dup c.495dup (p.Asn166Ter) | |
| Y | g.12735683del | CA519865389 | USP9Y | c.729del (p.Phe243LeufsTer6) n.741del c.495del (p.Phe165LeufsTer6) | COSMIC |
| Y | g.12735683T>A | CA414984549 | USP9Y | c.729T>A (p.Phe243Leu) n.741T>A c.495T>A (p.Phe165Leu) | |
| Y | g.12735683T>C | CA519865470 | USP9Y | c.729T>C (p.Phe243=) n.741T>C c.495T>C (p.Phe165=) | |
| Y | g.12735683T>G | CA414984550 | USP9Y | c.729T>G (p.Phe243Leu) n.741T>G c.495T>G (p.Phe165Leu) | |
| Y | g.12735684A= | CA2470555343 | USP9Y | c.730A= (p.Asn244=) n.742A= c.496A= (p.Asn166=) | |
| Y | g.12735684A>C | CA414984555 | USP9Y | c.730A>C (p.Asn244His) n.742A>C c.496A>C (p.Asn166His) | |
| Y | g.12735684A>G | CA10573061 | USP9Y | c.730A>G (p.Asn244Asp) n.742A>G c.496A>G (p.Asn166Asp) | dbSNP ExAC gnomAD v2 |
| Y | g.12735684A>T | CA414984556 | USP9Y | c.730A>T (p.Asn244Tyr) n.742A>T c.496A>T (p.Asn166Tyr) | |
| Y | g.12735685A>C | CA414984558 | USP9Y | c.731A>C (p.Asn244Thr) n.743A>C c.497A>C (p.Asn166Thr) | |
| Y | g.12735685A>G | CA414984561 | USP9Y | c.731A>G (p.Asn244Ser) n.743A>G c.497A>G (p.Asn166Ser) | |
| Y | g.12735685A>T | CA414984564 | USP9Y | c.731A>T (p.Asn244Ile) n.743A>T c.497A>T (p.Asn166Ile) | |
| Y | g.12735686T>A | CA414984579 | USP9Y | c.732T>A (p.Asn244Lys) n.744T>A c.498T>A (p.Asn166Lys) | |
| Y | g.12735686T>C | CA519865498 | USP9Y | c.732T>C (p.Asn244=) n.744T>C c.498T>C (p.Asn166=) | |
| Y | g.12735686T>G | CA414984568 | USP9Y | c.732T>G (p.Asn244Lys) n.744T>G c.498T>G (p.Asn166Lys) | |
| Y | g.12735687G>A | CA414984584 | USP9Y | c.733G>A (p.Gly245Arg) n.745G>A c.499G>A (p.Gly167Arg) | |
| Y | g.12735687G>C | CA414984585 | USP9Y | c.733G>C (p.Gly245Arg) n.745G>C c.499G>C (p.Gly167Arg) | |
| Y | g.12735687G>T | CA414984587 | USP9Y | c.733G>T (p.Gly245Ter) n.745G>T c.499G>T (p.Gly167Ter) | |
| Y | g.12735688G>A | CA414984590 | USP9Y | c.734G>A (p.Gly245Glu) n.746G>A c.500G>A (p.Gly167Glu) | |
| Y | g.12735688G>C | CA414984598 | USP9Y | c.734G>C (p.Gly245Ala) n.746G>C c.500G>C (p.Gly167Ala) | |
| Y | g.12735688G>T | CA414984601 | USP9Y | c.734G>T (p.Gly245Val) n.746G>T c.500G>T (p.Gly167Val) | |
| Y | g.12735689A>C | CA519865524 | USP9Y | c.735A>C (p.Gly245=) n.747A>C c.501A>C (p.Gly167=) | |
| Y | g.12735689A>G | CA519865529 | USP9Y | c.735A>G (p.Gly245=) n.747A>G c.501A>G (p.Gly167=) | |
| Y | g.12735689A>T | CA519865530 | USP9Y | c.735A>T (p.Gly245=) n.747A>T c.501A>T (p.Gly167=) | |
| Y | g.12735690T>A | CA414984608 | USP9Y | c.736T>A (p.Ser246Thr) n.748T>A c.502T>A (p.Ser168Thr) | |
| Y | g.12735690T>C | CA414984614 | USP9Y | c.736T>C (p.Ser246Pro) n.748T>C c.502T>C (p.Ser168Pro) | |
| Y | g.12735690T>G | CA414984618 | USP9Y | c.736T>G (p.Ser246Ala) n.748T>G c.502T>G (p.Ser168Ala) | |
| Y | g.12735691C>A | CA414984620 | USP9Y | c.737C>A (p.Ser246Ter) n.749C>A c.503C>A (p.Ser168Ter) | |
| Y | g.12735691C>G | CA414984622 | USP9Y | c.737C>G (p.Ser246Ter) n.749C>G c.503C>G (p.Ser168Ter) | |
| Y | g.12735691C>T | CA414984628 | USP9Y | c.737C>T (p.Ser246Leu) n.749C>T c.503C>T (p.Ser168Leu) | |
| Y | g.12735692A>C | CA519865550 | USP9Y | c.738A>C (p.Ser246=) n.750A>C c.504A>C (p.Ser168=) | |
| Y | g.12735692A>G | CA519865554 | USP9Y | c.738A>G (p.Ser246=) n.750A>G c.504A>G (p.Ser168=) | |
| Y | g.12735692A>T | CA519865558 | USP9Y | c.738A>T (p.Ser246=) n.750A>T c.504A>T (p.Ser168=) | |
| Y | g.12735693G>A | CA414984641 | USP9Y | c.739G>A (p.Ala247Thr) n.751G>A c.505G>A (p.Ala169Thr) | |
| Y | g.12735693G>C | CA414984639 | USP9Y | c.739G>C (p.Ala247Pro) n.751G>C c.505G>C (p.Ala169Pro) | |
| Y | g.12735693G>T | CA414984636 | USP9Y | c.739G>T (p.Ala247Ser) n.751G>T c.505G>T (p.Ala169Ser) | |
| Y | g.12735694C>A | CA414984645 | USP9Y | c.740C>A (p.Ala247Glu) n.752C>A c.506C>A (p.Ala169Glu) | |
| Y | g.12735694C>G | CA414984650 | USP9Y | c.740C>G (p.Ala247Gly) n.752C>G c.506C>G (p.Ala169Gly) | |
| Y | g.12735694C>T | CA414984653 | USP9Y | c.740C>T (p.Ala247Val) n.752C>T c.506C>T (p.Ala169Val) | |
| Y | g.12735695A>C | CA519865585 | USP9Y | c.741A>C (p.Ala247=) n.753A>C c.507A>C (p.Ala169=) | |
| Y | g.12735695A>G | CA519865589 | USP9Y | c.741A>G (p.Ala247=) n.753A>G c.507A>G (p.Ala169=) | |
| Y | g.12735695A>T | CA519865591 | USP9Y | c.741A>T (p.Ala247=) n.753A>T c.507A>T (p.Ala169=) | |
| Y | g.12735696T>A | CA414984654 | USP9Y | c.742T>A (p.Leu248Ile) n.754T>A c.508T>A (p.Leu170Ile) | |
| Y | g.12735696T>C | CA519865595 | USP9Y | c.742T>C (p.Leu248=) n.754T>C c.508T>C (p.Leu170=) | |
| Y | g.12735696T>G | CA414984657 | USP9Y | c.742T>G (p.Leu248Val) n.754T>G c.508T>G (p.Leu170Val) | |
| Y | g.12735697T>A | CA414984661 | USP9Y | c.743T>A (p.Leu248Ter) n.755T>A c.509T>A (p.Leu170Ter) | |
| Y | g.12735697T>C | CA414984662 | USP9Y | c.743T>C (p.Leu248Ser) n.755T>C c.509T>C (p.Leu170Ser) | |
| Y | g.12735697T>G | CA414984663 | USP9Y | c.743T>G (p.Leu248Ter) n.755T>G c.509T>G (p.Leu170Ter) | |
| Y | g.12735698A>C | CA414984665 | USP9Y | c.744A>C (p.Leu248Phe) n.756A>C c.510A>C (p.Leu170Phe) | |
| Y | g.12735698A>G | CA519865613 | USP9Y | c.744A>G (p.Leu248=) n.756A>G c.510A>G (p.Leu170=) |