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.32339856_32339858del | CA2695217893 | BRCA2 | c.5501_5503del (p.Ser1834del) c.5132_5134del (p.Ser1711del) n.5501_5503del | |
| 13 | g.32339856_32339859del | CA2580087599 | BRCA2 | c.5501_5504del (p.Ser1834IlefsTer5) c.5132_5135del (p.Ser1711IlefsTer5) n.5501_5504del | ClinVar |
| 13 | g.32339856_32339859delinsGTAA | CA2082823981 | BRCA2 | c.5501_5504delinsGTAA (p.Ser1834=) c.5132_5135delinsGTAA (p.Ser1711=) n.5501_5504delinsGTAA | |
| 13 | g.32339857T>A | CA387785802 | BRCA2 | c.5502T>A (p.Ser1834Arg) c.5133T>A (p.Ser1711Arg) n.5502T>A | ClinVar dbSNP |
| 13 | g.32339857T>C | CA483438505 | BRCA2 | c.5502T>C (p.Ser1834=) c.5133T>C (p.Ser1711=) n.5502T>C | |
| 13 | g.32339857T>G | CA387785804 | BRCA2 | c.5502T>G (p.Ser1834Arg) c.5133T>G (p.Ser1711Arg) n.5502T>G | |
| 13 | g.32339857T= | CA2082824005 | BRCA2 | c.5502T= (p.Ser1834=) c.5133T= (p.Ser1711=) n.5502T= | |
| 13 | g.32339861_32339863del | CA2082823989 | BRCA2 | c.5506_5508del (p.Asn1836del) c.5137_5139del (p.Asn1713del) n.5506_5508del | ClinVar dbSNP |
| 13 | g.32339858A= | CA2082824011 | BRCA2 | c.5503A= (p.Asn1835=) c.5134A= (p.Asn1712=) n.5503A= | |
| 13 | g.32339858A>C | CA387785806 | BRCA2 | c.5503A>C (p.Asn1835His) c.5134A>C (p.Asn1712His) n.5503A>C | |
| 13 | g.32339858A>G | CA022464 | BRCA2 | c.5503A>G (p.Asn1835Asp) c.5134A>G (p.Asn1712Asp) n.5503A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339858A>T | CA387785808 | BRCA2 | c.5503A>T (p.Asn1835Tyr) c.5134A>T (p.Asn1712Tyr) n.5503A>T | dbSNP |
| 13 | g.32339859dup | CA1139771860 | BRCA2 | c.5504dup (p.Asn1835LysfsTer2) c.5135dup (p.Asn1712LysfsTer2) n.5504dup | |
| 13 | g.32339859del | CA2727914592 | BRCA2 | c.5504del (p.Asn1835IlefsTer5) c.5135del (p.Asn1712IlefsTer5) n.5504del | dbSNP |
| 13 | g.32339859A= | CA2082824034 | BRCA2 | c.5504A= (p.Asn1835=) c.5135A= (p.Asn1712=) n.5504A= | |
| 13 | g.32339859A>C | CA387785809 | BRCA2 | c.5504A>C (p.Asn1835Thr) c.5135A>C (p.Asn1712Thr) n.5504A>C | dbSNP |
| 13 | g.32339859A>G | CA387785811 | BRCA2 | c.5504A>G (p.Asn1835Ser) c.5135A>G (p.Asn1712Ser) n.5504A>G | ClinVar dbSNP |
| 13 | g.32339859A>T | CA387785813 | BRCA2 | c.5504A>T (p.Asn1835Ile) c.5135A>T (p.Asn1712Ile) n.5504A>T | dbSNP |
| 13 | g.32339860T>A | CA387785815 | BRCA2 | c.5505T>A (p.Asn1835Lys) c.5136T>A (p.Asn1712Lys) n.5505T>A | |
| 13 | g.32339860T>C | CA483438511 | BRCA2 | c.5505T>C (p.Asn1835=) c.5136T>C (p.Asn1712=) n.5505T>C | ClinVar |
| 13 | g.32339860T>G | CA022469 | BRCA2 | c.5505T>G (p.Asn1835Lys) c.5136T>G (p.Asn1712Lys) n.5505T>G | ClinVar dbSNP |
| 13 | g.32339860T= | CA2082824045 | BRCA2 | c.5505T= (p.Asn1835=) c.5136T= (p.Asn1712=) n.5505T= | |
| 13 | g.32339861A>C | CA387785817 | BRCA2 | c.5506A>C (p.Asn1836His) c.5137A>C (p.Asn1713His) n.5506A>C | ClinVar dbSNP |
| 13 | g.32339861A>G | CA387785821 | BRCA2 | c.5506A>G (p.Asn1836Asp) c.5137A>G (p.Asn1713Asp) n.5506A>G | ClinVar |
| 13 | g.32339861A>T | CA387785819 | BRCA2 | c.5506A>T (p.Asn1836Tyr) c.5137A>T (p.Asn1713Tyr) n.5506A>T | dbSNP |
| 13 | g.32339862A= | CA2082824074 | BRCA2 | c.5507A= (p.Asn1836=) c.5138A= (p.Asn1713=) n.5507A= | |
| 13 | g.32339862A>C | CA022478 | BRCA2 | c.5507A>C (p.Asn1836Thr) c.5138A>C (p.Asn1713Thr) n.5507A>C | ClinVar dbSNP |
| 13 | g.32339862A>G | CA387785824 | BRCA2 | c.5507A>G (p.Asn1836Ser) c.5138A>G (p.Asn1713Ser) n.5507A>G | ClinVar dbSNP |
| 13 | g.32339862A>T | CA387785826 | BRCA2 | c.5507A>T (p.Asn1836Ile) c.5138A>T (p.Asn1713Ile) n.5507A>T | |
| 13 | g.32339863T>A | CA387785828 | BRCA2 | c.5508T>A (p.Asn1836Lys) c.5139T>A (p.Asn1713Lys) n.5508T>A | dbSNP |
| 13 | g.32339863T>C | CA483438513 | BRCA2 | c.5508T>C (p.Asn1836=) c.5139T>C (p.Asn1713=) n.5508T>C | ClinVar dbSNP |
| 13 | g.32339863T>G | CA022483 | BRCA2 | c.5508T>G (p.Asn1836Lys) c.5139T>G (p.Asn1713Lys) n.5508T>G | ClinVar dbSNP |
| 13 | g.32339863T= | CA2082824089 | BRCA2 | c.5508T= (p.Asn1836=) c.5139T= (p.Asn1713=) n.5508T= | |
| 13 | g.32339866dup | CA2573053813 | BRCA2 | c.5511dup (p.Glu1838Ter) c.5142dup (p.Glu1715Ter) n.5511dup | ClinVar dbSNP |
| 13 | g.32339866del | CA2695217894 | BRCA2 | c.5511del (p.Phe1837LeufsTer3) c.5142del (p.Phe1714LeufsTer3) n.5511del | dbSNP |
| 13 | g.32339864T>A | CA387785830 | BRCA2 | c.5509T>A (p.Phe1837Ile) c.5140T>A (p.Phe1714Ile) n.5509T>A | dbSNP |
| 13 | g.32339864T>C | CA387785832 | BRCA2 | c.5509T>C (p.Phe1837Leu) c.5140T>C (p.Phe1714Leu) n.5509T>C | ClinVar dbSNP |
| 13 | g.32339864T>G | CA387785835 | BRCA2 | c.5509T>G (p.Phe1837Val) c.5140T>G (p.Phe1714Val) n.5509T>G | |
| 13 | g.32339865T>A | CA387785836 | BRCA2 | c.5510T>A (p.Phe1837Tyr) c.5141T>A (p.Phe1714Tyr) n.5510T>A | dbSNP |
| 13 | g.32339865T>C | CA387785837 | BRCA2 | c.5510T>C (p.Phe1837Ser) c.5141T>C (p.Phe1714Ser) n.5510T>C | dbSNP |
| 13 | g.32339865T>G | CA387785838 | BRCA2 | c.5510T>G (p.Phe1837Cys) c.5141T>G (p.Phe1714Cys) n.5510T>G | |
| 13 | g.32339866T>A | CA387785839 | BRCA2 | c.5511T>A (p.Phe1837Leu) c.5142T>A (p.Phe1714Leu) n.5511T>A | dbSNP |
| 13 | g.32339866T>C | CA483438514 | BRCA2 | c.5511T>C (p.Phe1837=) c.5142T>C (p.Phe1714=) n.5511T>C | ClinVar dbSNP |
| 13 | g.32339866T>G | CA387785840 | BRCA2 | c.5511T>G (p.Phe1837Leu) c.5142T>G (p.Phe1714Leu) n.5511T>G | |
| 13 | g.32339867G>A | CA387785841 | BRCA2 | c.5512G>A (p.Glu1838Lys) c.5143G>A (p.Glu1715Lys) n.5512G>A | dbSNP |
| 13 | g.32339867G>C | CA387785845 | BRCA2 | c.5512G>C (p.Glu1838Gln) c.5143G>C (p.Glu1715Gln) n.5512G>C | dbSNP |
| 13 | g.32339867G= | CA2082824099 | BRCA2 | c.5512G= (p.Glu1838=) c.5143G= (p.Glu1715=) n.5512G= |