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.32339797_32339800dup | CA10589313 | BRCA2 | c.5442_5445dup (p.Ser1816AspfsTer2) c.5073_5076dup (p.Ser1693AspfsTer2) n.5442_5445dup | ClinVar dbSNP |
| 13 | g.32339797_32339799delinsGAC | CA2082823347 | BRCA2 | c.5442_5444delinsGAC (p.Val1814=) c.5073_5075delinsGAC (p.Val1691=) n.5442_5444delinsGAC | |
| 13 | g.32339797_32339799delinsTAA | CA16619725 | BRCA2 | c.5442_5444delinsTAA (p.Thr1815Asn) c.5073_5075delinsTAA (p.Thr1692Asn) n.5442_5444delinsTAA | ClinVar dbSNP |
| 13 | g.32339799C>A | CA387785552 | BRCA2 | c.5444C>A (p.Thr1815Asn) c.5075C>A (p.Thr1692Asn) n.5444C>A | ClinVar dbSNP |
| 13 | g.32339799C= | CA2082823396 | BRCA2 | c.5444C= (p.Thr1815=) c.5075C= (p.Thr1692=) n.5444C= | |
| 13 | g.32339799C>G | CA387785561 | BRCA2 | c.5444C>G (p.Thr1815Ser) c.5075C>G (p.Thr1692Ser) n.5444C>G | dbSNP |
| 13 | g.32339799C>T | CA022341 | BRCA2 | c.5444C>T (p.Thr1815Ile) c.5075C>T (p.Thr1692Ile) n.5444C>T | ClinVar dbSNP |
| 13 | g.32339801_32339804del | CA10654943 | BRCA2 | c.5446_5449del (p.Ser1816LeufsTer23) c.5077_5080del (p.Ser1693LeufsTer23) n.5446_5449del | |
| 13 | g.32339800T>A | CA483438417 | BRCA2 | c.5445T>A (p.Thr1815=) c.5076T>A (p.Thr1692=) n.5445T>A | dbSNP |
| 13 | g.32339800T>C | CA10583114 | BRCA2 | c.5445T>C (p.Thr1815=) c.5076T>C (p.Thr1692=) n.5445T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339800T>G | CA483438416 | BRCA2 | c.5445T>G (p.Thr1815=) c.5076T>G (p.Thr1692=) n.5445T>G | ClinVar dbSNP |
| 13 | g.32339800T= | CA2082823406 | BRCA2 | c.5445T= (p.Thr1815=) c.5076T= (p.Thr1692=) n.5445T= | |
| 13 | g.32339801A>C | CA387785569 | BRCA2 | c.5446A>C (p.Ser1816Arg) c.5077A>C (p.Ser1693Arg) n.5446A>C | |
| 13 | g.32339801A>G | CA387785570 | BRCA2 | c.5446A>G (p.Ser1816Gly) c.5077A>G (p.Ser1693Gly) n.5446A>G | ClinVar |
| 13 | g.32339801A>T | CA387785571 | BRCA2 | c.5446A>T (p.Ser1816Cys) c.5077A>T (p.Ser1693Cys) n.5446A>T | dbSNP |
| 13 | g.32339801dup | CA919242524 | BRCA2 | c.5446dup (p.Ser1816LysfsTer8) c.5077dup (p.Ser1693LysfsTer8) n.5446dup | dbSNP |
| 13 | g.32339802del | CA16621959 | BRCA2 | c.5447del (p.Ser1816ThrfsTer24) c.5078del (p.Ser1693ThrfsTer24) n.5447del | |
| 13 | g.32339802G>A | CA387785573 | BRCA2 | c.5447G>A (p.Ser1816Asn) c.5078G>A (p.Ser1693Asn) n.5447G>A | dbSNP |
| 13 | g.32339802G>C | CA387785576 | BRCA2 | c.5447G>C (p.Ser1816Thr) c.5078G>C (p.Ser1693Thr) n.5447G>C | dbSNP |
| 13 | g.32339802G= | CA2082823425 | BRCA2 | c.5447G= (p.Ser1816=) c.5078G= (p.Ser1693=) n.5447G= | |
| 13 | g.32339802G>T | CA387785577 | BRCA2 | c.5447G>T (p.Ser1816Ile) c.5078G>T (p.Ser1693Ile) n.5447G>T | ClinVar dbSNP |
| 13 | g.32339803C>A | CA387785579 | BRCA2 | c.5448C>A (p.Ser1816Arg) c.5079C>A (p.Ser1693Arg) n.5448C>A | ClinVar dbSNP |
| 13 | g.32339803C= | CA2082823436 | BRCA2 | c.5448C= (p.Ser1816=) c.5079C= (p.Ser1693=) n.5448C= | |
| 13 | g.32339803C>G | CA387785581 | BRCA2 | c.5448C>G (p.Ser1816Arg) c.5079C>G (p.Ser1693Arg) n.5448C>G | dbSNP |
| 13 | g.32339803C>T | CA483438421 | BRCA2 | c.5448C>T (p.Ser1816=) c.5079C>T (p.Ser1693=) n.5448C>T | ClinVar dbSNP |
| 13 | g.32339804T>A | CA387785589 | BRCA2 | c.5449T>A (p.Ser1817Thr) c.5080T>A (p.Ser1694Thr) n.5449T>A | dbSNP |
| 13 | g.32339804T>C | CA387785586 | BRCA2 | c.5449T>C (p.Ser1817Pro) c.5080T>C (p.Ser1694Pro) n.5449T>C | ClinVar dbSNP |
| 13 | g.32339804T>G | CA10579655 | BRCA2 | c.5449T>G (p.Ser1817Ala) c.5080T>G (p.Ser1694Ala) n.5449T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339804T= | CA2082823451 | BRCA2 | c.5449T= (p.Ser1817=) c.5080T= (p.Ser1694=) n.5449T= | |
| 13 | g.32339805C>A | CA387785590 | BRCA2 | c.5450C>A (p.Ser1817Tyr) c.5081C>A (p.Ser1694Tyr) n.5450C>A | dbSNP |
| 13 | g.32339805C= | CA2082823461 | BRCA2 | c.5450C= (p.Ser1817=) c.5081C= (p.Ser1694=) n.5450C= | |
| 13 | g.32339805C>G | CA6940871 | BRCA2 | c.5450C>G (p.Ser1817Cys) c.5081C>G (p.Ser1694Cys) n.5450C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339805C>T | CA387785593 | BRCA2 | c.5450C>T (p.Ser1817Phe) c.5081C>T (p.Ser1694Phe) n.5450C>T | ClinVar dbSNP |
| 13 | g.32339806T>A | CA483438424 | BRCA2 | c.5451T>A (p.Ser1817=) c.5082T>A (p.Ser1694=) n.5451T>A | dbSNP |
| 13 | g.32339806T>C | CA483438425 | BRCA2 | c.5451T>C (p.Ser1817=) c.5082T>C (p.Ser1694=) n.5451T>C | ClinVar dbSNP |
| 13 | g.32339806T>G | CA483438426 | BRCA2 | c.5451T>G (p.Ser1817=) c.5082T>G (p.Ser1694=) n.5451T>G | |
| 13 | g.32339806T= | CA2082823476 | BRCA2 | c.5451T= (p.Ser1817=) c.5082T= (p.Ser1694=) n.5451T= | |
| 13 | g.32339807T>A | CA387785595 | BRCA2 | c.5452T>A (p.Ser1818Thr) c.5083T>A (p.Ser1695Thr) n.5452T>A | |
| 13 | g.32339807T>C | CA387785597 | BRCA2 | c.5452T>C (p.Ser1818Pro) c.5083T>C (p.Ser1695Pro) n.5452T>C | |
| 13 | g.32339807T>G | CA387785599 | BRCA2 | c.5452T>G (p.Ser1818Ala) c.5083T>G (p.Ser1695Ala) n.5452T>G | |
| 13 | g.32339808C>A | CA387785604 | BRCA2 | c.5453C>A (p.Ser1818Ter) c.5084C>A (p.Ser1695Ter) n.5453C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339808C= | CA2082823489 | BRCA2 | c.5453C= (p.Ser1818=) c.5084C= (p.Ser1695=) n.5453C= | |
| 13 | g.32339808C>G | CA387785606 | BRCA2 | c.5453C>G (p.Ser1818Ter) c.5084C>G (p.Ser1695Ter) n.5453C>G | dbSNP |
| 13 | g.32339808C>T | CA387785608 | BRCA2 | c.5453C>T (p.Ser1818Leu) c.5084C>T (p.Ser1695Leu) n.5453C>T | dbSNP |
| 13 | g.32339808_32339809delinsCA | CA2082823486 | BRCA2 | c.5453_5454delinsCA (p.Ser1818=) c.5084_5085delinsCA (p.Ser1695=) n.5453_5454delinsCA | |
| 13 | g.32339809del | CA022345 | BRCA2 | c.5454del (p.Cys1820AlafsTer20) c.5085del (p.Cys1697AlafsTer20) n.5454del | ClinVar dbSNP |
| 13 | g.32339809A= | CA2082823517 | BRCA2 | c.5454A= (p.Ser1818=) c.5085A= (p.Ser1695=) n.5454A= |