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.32339821_32339823delinsTAA | CA2082823646 | BRCA2 | c.5466_5468delinsTAA (p.Asn1822=) c.5097_5099delinsTAA (p.Asn1699=) n.5466_5468delinsTAA | |
| 13 | g.32339822A= | CA2082823664 | BRCA2 | c.5467A= (p.Lys1823=) c.5098A= (p.Lys1700=) n.5467A= | |
| 13 | g.32339822A>C | CA022376 | BRCA2 | c.5467A>C (p.Lys1823Gln) c.5098A>C (p.Lys1700Gln) n.5467A>C | ClinVar dbSNP |
| 13 | g.32339822A>G | CA022382 | BRCA2 | c.5467A>G (p.Lys1823Glu) c.5098A>G (p.Lys1700Glu) n.5467A>G | ClinVar dbSNP |
| 13 | g.32339822A>T | CA387785666 | BRCA2 | c.5467A>T (p.Lys1823Ter) c.5098A>T (p.Lys1700Ter) n.5467A>T | ClinVar dbSNP |
| 13 | g.32339826dup | CA022391 | BRCA2 | c.5471dup (p.Asn1824LysfsTer5) c.5102dup (p.Asn1701LysfsTer5) n.5471dup | ClinVar dbSNP |
| 13 | g.32339826del | CA022402 | BRCA2 | c.5471del (p.Asn1824MetfsTer16) c.5102del (p.Asn1701MetfsTer16) n.5471del | ClinVar dbSNP |
| 13 | g.32339825_32339826del | CA022385 | BRCA2 | c.5470_5471del (p.Asn1824CysfsTer4) c.5101_5102del (p.Asn1701CysfsTer4) n.5470_5471del | ClinVar dbSNP |
| 13 | g.32339823A>C | CA387785670 | BRCA2 | c.5468A>C (p.Lys1823Thr) c.5099A>C (p.Lys1700Thr) n.5468A>C | |
| 13 | g.32339823A>G | CA387785669 | BRCA2 | c.5468A>G (p.Lys1823Arg) c.5099A>G (p.Lys1700Arg) n.5468A>G | ClinVar dbSNP |
| 13 | g.32339823A>T | CA387785668 | BRCA2 | c.5468A>T (p.Lys1823Ile) c.5099A>T (p.Lys1700Ile) n.5468A>T | dbSNP |
| 13 | g.32339824A= | CA2082823681 | BRCA2 | c.5469A= (p.Lys1823=) c.5100A= (p.Lys1700=) n.5469A= | |
| 13 | g.32339824A>C | CA6940875 | BRCA2 | c.5469A>C (p.Lys1823Asn) c.5100A>C (p.Lys1700Asn) n.5469A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339824A>G | CA483438454 | BRCA2 | c.5469A>G (p.Lys1823=) c.5100A>G (p.Lys1700=) n.5469A>G | |
| 13 | g.32339824A>T | CA387785672 | BRCA2 | c.5469A>T (p.Lys1823Asn) c.5100A>T (p.Lys1700Asn) n.5469A>T | dbSNP |
| 13 | g.32339825A>C | CA387785674 | BRCA2 | c.5470A>C (p.Asn1824His) c.5101A>C (p.Asn1701His) n.5470A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339825A>G | CA387785676 | BRCA2 | c.5470A>G (p.Asn1824Asp) c.5101A>G (p.Asn1701Asp) n.5470A>G | |
| 13 | g.32339825A>T | CA387785678 | BRCA2 | c.5470A>T (p.Asn1824Tyr) c.5101A>T (p.Asn1701Tyr) n.5470A>T | |
| 13 | g.32339825_32339826insCCAAACACACCCAACAC | CA2798719391 | BRCA2 | c.5470_5471insCCAAACACACCCAACAC (p.Asn1824ThrfsTer22) c.5101_5102insCCAAACACACCCAACAC (p.Asn1701ThrfsTer22) n.5470_5471insCCAAACACACCCAACAC | |
| 13 | g.32339826A= | CA2082823694 | BRCA2 | c.5471A= (p.Asn1824=) c.5102A= (p.Asn1701=) n.5471A= | |
| 13 | g.32339826A>C | CA387785679 | BRCA2 | c.5471A>C (p.Asn1824Thr) c.5102A>C (p.Asn1701Thr) n.5471A>C | |
| 13 | g.32339826A>G | CA022396 | BRCA2 | c.5471A>G (p.Asn1824Ser) c.5102A>G (p.Asn1701Ser) n.5471A>G | ClinVar dbSNP |
| 13 | g.32339826A>T | CA387785680 | BRCA2 | c.5471A>T (p.Asn1824Ile) c.5102A>T (p.Asn1701Ile) n.5471A>T | dbSNP |
| 13 | g.32339827T>A | CA387785681 | BRCA2 | c.5472T>A (p.Asn1824Lys) c.5103T>A (p.Asn1701Lys) n.5472T>A | dbSNP |
| 13 | g.32339827T>C | CA6940876 | BRCA2 | c.5472T>C (p.Asn1824=) c.5103T>C (p.Asn1701=) n.5472T>C | ClinVar dbSNP ExAC |
| 13 | g.32339827T>G | CA6940877 | BRCA2 | c.5472T>G (p.Asn1824Lys) c.5103T>G (p.Asn1701Lys) n.5472T>G | ClinVar dbSNP ExAC |
| 13 | g.32339827T= | CA2082823707 | BRCA2 | c.5472T= (p.Asn1824=) c.5103T= (p.Asn1701=) n.5472T= | |
| 13 | g.32339827dup | CA658656393 | BRCA2 | c.5472dup (p.Ala1825CysfsTer4) c.5103dup (p.Ala1702CysfsTer4) n.5472dup | ClinVar dbSNP |
| 13 | g.32339827_32339828insA | CA10589315 | BRCA2 | c.5472_5473insA (p.Ala1825SerfsTer4) c.5103_5104insA (p.Ala1702SerfsTer4) n.5472_5473insA | ClinVar dbSNP |
| 13 | g.32339828G>A | CA387785688 | BRCA2 | c.5473G>A (p.Ala1825Thr) c.5104G>A (p.Ala1702Thr) n.5473G>A | ClinVar dbSNP |
| 13 | g.32339828G>C | CA6940878 | BRCA2 | c.5473G>C (p.Ala1825Pro) c.5104G>C (p.Ala1702Pro) n.5473G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339828G= | CA2082823719 | BRCA2 | c.5473G= (p.Ala1825=) c.5104G= (p.Ala1702=) n.5473G= | |
| 13 | g.32339828G>T | CA387785686 | BRCA2 | c.5473G>T (p.Ala1825Ser) c.5104G>T (p.Ala1702Ser) n.5473G>T | dbSNP |
| 13 | g.32339829C>A | CA387785692 | BRCA2 | c.5474C>A (p.Ala1825Glu) c.5105C>A (p.Ala1702Glu) n.5474C>A | dbSNP |
| 13 | g.32339829C= | CA2082823724 | BRCA2 | c.5474C= (p.Ala1825=) c.5105C= (p.Ala1702=) n.5474C= | |
| 13 | g.32339829C>G | CA387785694 | BRCA2 | c.5474C>G (p.Ala1825Gly) c.5105C>G (p.Ala1702Gly) n.5474C>G | ClinVar dbSNP |
| 13 | g.32339829C>T | CA022409 | BRCA2 | c.5474C>T (p.Ala1825Val) c.5105C>T (p.Ala1702Val) n.5474C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339831_32339834dup | CA2695217891 | BRCA2 | c.5476_5479dup (p.Ile1827SerfsTer3) c.5107_5110dup (p.Ile1704SerfsTer3) n.5476_5479dup | |
| 13 | g.32339830A>C | CA483438459 | BRCA2 | c.5475A>C (p.Ala1825=) c.5106A>C (p.Ala1702=) n.5475A>C | |
| 13 | g.32339830A>G | CA483438461 | BRCA2 | c.5475A>G (p.Ala1825=) c.5106A>G (p.Ala1702=) n.5475A>G | ClinVar dbSNP |
| 13 | g.32339830A>T | CA483438463 | BRCA2 | c.5475A>T (p.Ala1825=) c.5106A>T (p.Ala1702=) n.5475A>T | dbSNP |
| 13 | g.32339831G>A | CA387785697 | BRCA2 | c.5476G>A (p.Ala1826Thr) c.5107G>A (p.Ala1703Thr) n.5476G>A | ClinVar dbSNP |
| 13 | g.32339831G>C | CA387785698 | BRCA2 | c.5476G>C (p.Ala1826Pro) c.5107G>C (p.Ala1703Pro) n.5476G>C | ClinVar dbSNP |
| 13 | g.32339831G= | CA2082823729 | BRCA2 | c.5476G= (p.Ala1826=) c.5107G= (p.Ala1703=) n.5476G= | |
| 13 | g.32339831G>T | CA387785700 | BRCA2 | c.5476G>T (p.Ala1826Ser) c.5107G>T (p.Ala1703Ser) n.5476G>T | dbSNP |
| 13 | g.32339832C>A | CA387785702 | BRCA2 | c.5477C>A (p.Ala1826Asp) c.5108C>A (p.Ala1703Asp) n.5477C>A | dbSNP |
| 13 | g.32339832C>G | CA387785703 | BRCA2 | c.5477C>G (p.Ala1826Gly) c.5108C>G (p.Ala1703Gly) n.5477C>G | dbSNP |