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 |
|---|---|---|---|---|---|
| 13 | g.32339554_32340264del | CA2580087342 | BRCA2 | c.5199_5909del (p.Glu1734_Ser1970del) c.4830_5540del (p.Glu1611_Ser1847del) n.5199_5909del | ClinVar |
| 13 | g.32339776_32340004delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA | CA2082823130 | BRCA2 | c.5421_5649delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA (p.Asp1807=) c.5052_5280delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA (p.Asp1684=) n.5421_5649delinsTATTTGCGTTGAGGAACTTGTGACTAGCTCTTCACCCTGCAAAAATAAAAATGCAGCCATTAAATTGTCCATATCTAATAGTAATAATTTTGAGGTAGGGCCACCTGCATTTAGGATAGCCAGTGGTAAAATCGTTTGTGTTTCACATGAAACAATTAAAAAAGTGAAAGACATATTTACAGACAGTTTCAGTAAAGTAATTAAGGAAAACAACGAGAATAAATCAAAA | |
| 13 | g.32339783_32340010del | CA1139663219 | BRCA2 | c.5428_5655del (p.Val1810_Cys1885del) c.5059_5286del (p.Val1687_Cys1762del) n.5428_5655del | ClinVar dbSNP |
| 13 | g.32339921_32339939del | CA2695217895 | BRCA2 | c.5566_5584del (p.His1856Ter) c.5197_5215del (p.His1733Ter) n.5566_5584del | |
| 13 | g.32339928_32339931del | CA2499222202 | BRCA2 | c.5573_5576del (p.Thr1858IlefsTer4) c.5204_5207del (p.Thr1735IlefsTer4) n.5573_5576del | |
| 13 | g.32339928_32339932delinsCAATT | CA2082824835 | BRCA2 | c.5573_5577delinsCAATT (p.Thr1858=) c.5204_5208delinsCAATT (p.Thr1735=) n.5573_5577delinsCAATT | |
| 13 | g.32339928_32339933delinsCAATTA | CA2082824841 | BRCA2 | c.5573_5578delinsCAATTA (p.Thr1858=) c.5204_5209delinsCAATTA (p.Thr1735=) n.5573_5578delinsCAATTA | |
| 13 | g.32339931_32339934del | CA022586 | BRCA2 | c.5576_5579del (p.Ile1859LysfsTer3) c.5207_5210del (p.Ile1736LysfsTer3) n.5576_5579del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32339931_32339935del | CA919242537 | BRCA2 | c.5576_5580del (p.Ile1859LysfsTer12) c.5207_5211del (p.Ile1736LysfsTer12) n.5576_5580del | dbSNP |
| 13 | g.32339930_32339931delinsAT | CA2082824867 | BRCA2 | c.5575_5576delinsAT (p.Ile1859=) c.5206_5207delinsAT (p.Ile1736=) n.5575_5576delinsAT | |
| 13 | g.32339931T>A | CA387786005 | BRCA2 | c.5576T>A (p.Ile1859Asn) c.5207T>A (p.Ile1736Asn) n.5576T>A | |
| 13 | g.32339931T>C | CA387786006 | BRCA2 | c.5576T>C (p.Ile1859Thr) c.5207T>C (p.Ile1736Thr) n.5576T>C | dbSNP |
| 13 | g.32339931T>G | CA387786007 | BRCA2 | c.5576T>G (p.Ile1859Ser) c.5207T>G (p.Ile1736Ser) n.5576T>G | |
| 13 | g.32339932del | CA022612 | BRCA2 | c.5577del (p.Val1862Ter) c.5208del (p.Val1739Ter) n.5577del | ClinVar dbSNP |
| 13 | g.32339931_32339935delinsTTAAA | CA2082824888 | BRCA2 | c.5576_5580delinsTTAAA (p.Ile1859=) c.5207_5211delinsTTAAA (p.Ile1736=) n.5576_5580delinsTTAAA | |
| 13 | g.32339932T>A | CA483438702 | BRCA2 | c.5577T>A (p.Ile1859=) c.5208T>A (p.Ile1736=) n.5577T>A | |
| 13 | g.32339932T>C | CA483438704 | BRCA2 | c.5577T>C (p.Ile1859=) c.5208T>C (p.Ile1736=) n.5577T>C | |
| 13 | g.32339932T>G | CA387786008 | BRCA2 | c.5577T>G (p.Ile1859Met) c.5208T>G (p.Ile1736Met) n.5577T>G | ClinVar dbSNP |
| 13 | g.32339932T= | CA2082824900 | BRCA2 | c.5577T= (p.Ile1859=) c.5208T= (p.Ile1736=) n.5577T= | |
| 13 | g.32339932_32339935del | CA022608 | BRCA2 | c.5577_5580del (p.Lys1861Ter) c.5208_5211del (p.Lys1738Ter) n.5577_5580del | ClinVar dbSNP |
| 13 | g.32339932_32339936delinsTAAAA | CA2082824895 | BRCA2 | c.5577_5581delinsTAAAA (p.Ile1859=) c.5208_5212delinsTAAAA (p.Ile1736=) n.5577_5581delinsTAAAA | |
| 13 | g.32339933A= | CA2082824934 | BRCA2 | c.5578A= (p.Lys1860=) c.5209A= (p.Lys1737=) n.5578A= | |
| 13 | g.32339933A>C | CA387786010 | BRCA2 | c.5578A>C (p.Lys1860Gln) c.5209A>C (p.Lys1737Gln) n.5578A>C | ClinVar dbSNP |
| 13 | g.32339933A>G | CA387786009 | BRCA2 | c.5578A>G (p.Lys1860Glu) c.5209A>G (p.Lys1737Glu) n.5578A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32339933A>T | CA022617 | BRCA2 | c.5578A>T (p.Lys1860Ter) c.5209A>T (p.Lys1737Ter) n.5578A>T | ClinVar dbSNP |
| 13 | g.32339938dup | CA022630 | BRCA2 | c.5583dup (p.Val1862SerfsTer11) c.5214dup (p.Val1739SerfsTer11) n.5583dup | ClinVar dbSNP |
| 13 | g.32339938del | CA022633 | BRCA2 | c.5583del (p.Val1862Ter) c.5214del (p.Val1739Ter) n.5583del | ClinVar dbSNP |
| 13 | g.32339937_32339938del | CA1139770809 | BRCA2 | c.5582_5583del (p.Lys1861SerfsTer11) c.5213_5214del (p.Lys1738SerfsTer11) n.5582_5583del | |
| 13 | g.32339936_32339938del | CA2082824927 | BRCA2 | c.5581_5583del (p.Lys1861del) c.5212_5214del (p.Lys1738del) n.5581_5583del | ClinVar dbSNP |
| 13 | g.32339935_32339938del | CA10589319 | BRCA2 | c.5580_5583del (p.Lys1861Ter) c.5211_5214del (p.Lys1738Ter) n.5580_5583del | ClinVar dbSNP |
| 13 | g.32339934A= | CA2082824949 | BRCA2 | c.5579A= (p.Lys1860=) c.5210A= (p.Lys1737=) n.5579A= | |
| 13 | g.32339934A>C | CA387786011 | BRCA2 | c.5579A>C (p.Lys1860Thr) c.5210A>C (p.Lys1737Thr) n.5579A>C | |
| 13 | g.32339934A>G | CA387786012 | BRCA2 | c.5579A>G (p.Lys1860Arg) c.5210A>G (p.Lys1737Arg) n.5579A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339934A>T | CA387786013 | BRCA2 | c.5579A>T (p.Lys1860Ile) c.5210A>T (p.Lys1737Ile) n.5579A>T | dbSNP |
| 13 | g.32339934_32339939delinsAAAAAG | CA2082824947 | BRCA2 | c.5579_5584delinsAAAAAG (p.Lys1860=) c.5210_5215delinsAAAAAG (p.Lys1737=) n.5579_5584delinsAAAAAG | |
| 13 | g.32339935A>C | CA387786015 | BRCA2 | c.5580A>C (p.Lys1860Asn) c.5211A>C (p.Lys1737Asn) n.5580A>C | |
| 13 | g.32339935A>G | CA483438715 | BRCA2 | c.5580A>G (p.Lys1860=) c.5211A>G (p.Lys1737=) n.5580A>G | |
| 13 | g.32339935A>T | CA387786014 | BRCA2 | c.5580A>T (p.Lys1860Asn) c.5211A>T (p.Lys1737Asn) n.5580A>T | dbSNP |
| 13 | g.32339935_32339939del | CA022622 | BRCA2 | c.5580_5584del (p.Lys1860AsnfsTer11) c.5211_5215del (p.Lys1737AsnfsTer11) n.5580_5584del | ClinVar dbSNP |
| 13 | g.32339936A= | CA2082824974 | BRCA2 | c.5581A= (p.Lys1861=) c.5212A= (p.Lys1738=) n.5581A= | |
| 13 | g.32339936A>C | CA387786016 | BRCA2 | c.5581A>C (p.Lys1861Gln) c.5212A>C (p.Lys1738Gln) n.5581A>C | |
| 13 | g.32339936A>G | CA387786017 | BRCA2 | c.5581A>G (p.Lys1861Glu) c.5212A>G (p.Lys1738Glu) n.5581A>G | ClinVar dbSNP |
| 13 | g.32339936A>T | CA387786018 | BRCA2 | c.5581A>T (p.Lys1861Ter) c.5212A>T (p.Lys1738Ter) n.5581A>T | dbSNP |
| 13 | g.32339937A>C | CA387786019 | BRCA2 | c.5582A>C (p.Lys1861Thr) c.5213A>C (p.Lys1738Thr) n.5582A>C | |
| 13 | g.32339937A>G | CA387786020 | BRCA2 | c.5582A>G (p.Lys1861Arg) c.5213A>G (p.Lys1738Arg) n.5582A>G | |
| 13 | g.32339937A>T | CA387786021 | BRCA2 | c.5582A>T (p.Lys1861Ile) c.5213A>T (p.Lys1738Ile) n.5582A>T | dbSNP |
| 13 | g.32339937_32339941delinsAAGTG | CA2082824985 | BRCA2 | c.5582_5586delinsAAGTG (p.Lys1861=) c.5213_5217delinsAAGTG (p.Lys1738=) n.5582_5586delinsAAGTG | |
| 13 | g.32339938A= | CA2082824994 | BRCA2 | c.5583A= (p.Lys1861=) c.5214A= (p.Lys1738=) n.5583A= | |
| 13 | g.32339938A>C | CA387786022 | BRCA2 | c.5583A>C (p.Lys1861Asn) c.5214A>C (p.Lys1738Asn) n.5583A>C | |
| 13 | g.32339938A>G | CA6940888 | BRCA2 | c.5583A>G (p.Lys1861=) c.5214A>G (p.Lys1738=) n.5583A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |