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.32340106_32340965del | CA645585173 | BRCA2 | c.5751_6610del (p.His1918CysfsTer20) c.5382_6241del (p.His1795CysfsTer20) n.5751_6610del | COSMIC COSMIC |
| 13 | g.32340398_32341353del | CA2582073544 | BRCA2 | c.6043_6841+157del c.5674_6472+157del n.6043_6841+157del | |
| 13 | g.32340798_32340802del | CA2695217833 | BRCA2 | c.6443_6447del (p.Ser2148Ter) c.6074_6078del (p.Ser2025Ter) n.6443_6447del | |
| 13 | g.32340798_32340800delinsCTA | CA2082814541 | BRCA2 | c.6443_6445delinsCTA (p.Ser2148=) c.6074_6076delinsCTA (p.Ser2025=) n.6443_6445delinsCTA | |
| 13 | g.32340798_32340802delinsCTATT | CA2082814544 | BRCA2 | c.6443_6447delinsCTATT (p.Ser2148=) c.6074_6078delinsCTATT (p.Ser2025=) n.6443_6447delinsCTATT | |
| 13 | g.32340799_32340800delinsTA | CA2082814577 | BRCA2 | c.6444_6445delinsTA (p.Ser2148=) c.6075_6076delinsTA (p.Ser2025=) n.6444_6445delinsTA | |
| 13 | g.32340800_32340801dup | CA919242714 | BRCA2 | c.6445_6446dup (p.Lys2150LeufsTer19) c.6076_6077dup (p.Lys2027LeufsTer19) n.6445_6446dup | ClinVar dbSNP |
| 13 | g.32340800_32340801del | CA024050 | BRCA2 | c.6445_6446del (p.Ile2149Ter) c.6076_6077del (p.Ile2026Ter) n.6445_6446del | ClinVar dbSNP |
| 13 | g.32340799_32340802del | CA024046 | BRCA2 | c.6444_6447del (p.Ile2149LysfsTer18) c.6075_6078del (p.Ile2026LysfsTer18) n.6444_6447del | ClinVar dbSNP |
| 13 | g.32340799_32340804delinsTATTAA | CA2082814578 | BRCA2 | c.6444_6449delinsTATTAA (p.Ser2148=) c.6075_6080delinsTATTAA (p.Ser2025=) n.6444_6449delinsTATTAA | |
| 13 | g.32340799_32340813delinsTATTAAAGTTTCTCC | CA2082814573 | BRCA2 | c.6444_6458delinsTATTAAAGTTTCTCC (p.Ser2148=) c.6075_6089delinsTATTAAAGTTTCTCC (p.Ser2025=) n.6444_6458delinsTATTAAAGTTTCTCC | |
| 13 | g.32340800del | CA024054 | BRCA2 | c.6445del (p.Ile2149LeufsTer19) c.6076del (p.Ile2026LeufsTer19) n.6445del | ClinVar dbSNP |
| 13 | g.32340800A= | CA2082814613 | BRCA2 | c.6445A= (p.Ile2149=) c.6076A= (p.Ile2026=) n.6445A= | |
| 13 | g.32340800A>C | CA16619745 | BRCA2 | c.6445A>C (p.Ile2149Leu) c.6076A>C (p.Ile2026Leu) n.6445A>C | ClinVar dbSNP |
| 13 | g.32340800A>G | CA024052 | BRCA2 | c.6445A>G (p.Ile2149Val) c.6076A>G (p.Ile2026Val) n.6445A>G | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32340800A>T | CA387789319 | BRCA2 | c.6445A>T (p.Ile2149Phe) c.6076A>T (p.Ile2026Phe) n.6445A>T | |
| 13 | g.32340800dup | CA2580087906 | BRCA2 | c.6445dup (p.Ile2149AsnfsTer2) c.6076dup (p.Ile2026AsnfsTer2) n.6445dup | ClinVar |
| 13 | g.32340800_32340801delinsAT | CA2082814603 | BRCA2 | c.6445_6446delinsAT (p.Ile2149=) c.6076_6077delinsAT (p.Ile2026=) n.6445_6446delinsAT | |
| 13 | g.32340800_32340802delinsATT | CA2082814606 | BRCA2 | c.6445_6447delinsATT (p.Ile2149=) c.6076_6078delinsATT (p.Ile2026=) n.6445_6447delinsATT | |
| 13 | g.32340801_32340804del | CA2497029989 | BRCA2 | c.6446_6449del (p.Ile2149LysfsTer18) c.6077_6080del (p.Ile2026LysfsTer18) n.6446_6449del | |
| 13 | g.32340801_32340805del | CA024058 | BRCA2 | c.6446_6450del (p.Ile2149SerfsTer25) c.6077_6081del (p.Ile2026SerfsTer25) n.6446_6450del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340800_32340806del | CA916084397 | BRCA2 | c.6445_6451del (p.Ile2149PhefsTer17) c.6076_6082del (p.Ile2026PhefsTer17) n.6445_6451del | |
| 13 | g.32340802_32340815del | CA913188564 | BRCA2 | c.6447_6460del (p.Lys2150SerfsTer21) c.6078_6091del (p.Lys2027SerfsTer21) n.6447_6460del | ClinVar dbSNP |
| 13 | g.32340801T>A | CA387789320 | BRCA2 | c.6446T>A (p.Ile2149Asn) c.6077T>A (p.Ile2026Asn) n.6446T>A | dbSNP |
| 13 | g.32340801T>C | CA387789321 | BRCA2 | c.6446T>C (p.Ile2149Thr) c.6077T>C (p.Ile2026Thr) n.6446T>C | dbSNP |
| 13 | g.32340801T>G | CA387789322 | BRCA2 | c.6446T>G (p.Ile2149Ser) c.6077T>G (p.Ile2026Ser) n.6446T>G | ClinVar dbSNP |
| 13 | g.32340801T= | CA2082814630 | BRCA2 | c.6446T= (p.Ile2149=) c.6077T= (p.Ile2026=) n.6446T= | |
| 13 | g.32340801_32340802del | CA10579695 | BRCA2 | c.6446_6447del (p.Ile2149LysfsTer26) c.6077_6078del (p.Ile2026LysfsTer26) n.6446_6447del | ClinVar dbSNP |
| 13 | g.32340802del | CA10589378 | BRCA2 | c.6447del (p.Val2151PhefsTer17) c.6078del (p.Val2028PhefsTer17) n.6447del | ClinVar dbSNP |
| 13 | g.32340801_32340803delinsTTA | CA2082814632 | BRCA2 | c.6446_6448delinsTTA (p.Ile2149=) c.6077_6079delinsTTA (p.Ile2026=) n.6446_6448delinsTTA | |
| 13 | g.32340802T>A | CA483438871 | BRCA2 | c.6447T>A (p.Ile2149=) c.6078T>A (p.Ile2026=) n.6447T>A | dbSNP |
| 13 | g.32340802T>C | CA483438872 | BRCA2 | c.6447T>C (p.Ile2149=) c.6078T>C (p.Ile2026=) n.6447T>C | ClinVar dbSNP |
| 13 | g.32340802T>G | CA387789323 | BRCA2 | c.6447T>G (p.Ile2149Met) c.6078T>G (p.Ile2026Met) n.6447T>G | ClinVar dbSNP |
| 13 | g.32340802T= | CA2082814649 | BRCA2 | c.6447T= (p.Ile2149=) c.6078T= (p.Ile2026=) n.6447T= | |
| 13 | g.32340802_32340803del | CA024060 | BRCA2 | c.6447_6448del (p.Lys2150SerfsTer25) c.6078_6079del (p.Lys2027SerfsTer25) n.6447_6448del | ClinVar dbSNP |
| 13 | g.32340802_32340803dup | CA024063 | BRCA2 | c.6447_6448dup (p.Lys2150IlefsTer19) c.6078_6079dup (p.Lys2027IlefsTer19) n.6447_6448dup | ClinVar dbSNP |
| 13 | g.32340802_32340804delinsTAA | CA2082814651 | BRCA2 | c.6447_6449delinsTAA (p.Ile2149=) c.6078_6080delinsTAA (p.Ile2026=) n.6447_6449delinsTAA | |
| 13 | g.32340802_32340803insCAGA | CA2499222237 | BRCA2 | c.6447_6448insCAGA (p.Lys2150GlnfsTer27) c.6078_6079insCAGA (p.Lys2027GlnfsTer27) n.6447_6448insCAGA | dbSNP |
| 13 | g.32340803A= | CA2082814688 | BRCA2 | c.6448A= (p.Lys2150=) c.6079A= (p.Lys2027=) n.6448A= | |
| 13 | g.32340803A>C | CA387789324 | BRCA2 | c.6448A>C (p.Lys2150Gln) c.6079A>C (p.Lys2027Gln) n.6448A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32340803A>G | CA387789325 | BRCA2 | c.6448A>G (p.Lys2150Glu) c.6079A>G (p.Lys2027Glu) n.6448A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340803A>T | CA387789326 | BRCA2 | c.6448A>T (p.Lys2150Ter) c.6079A>T (p.Lys2027Ter) n.6448A>T | dbSNP |
| 13 | g.32340805dup | CA024068 | BRCA2 | c.6450dup (p.Val2151SerfsTer25) c.6081dup (p.Val2028SerfsTer25) n.6450dup | ClinVar dbSNP |
| 13 | g.32340804_32340805dup | CA1139663237 | BRCA2 | c.6449_6450dup (p.Val2151LysfsTer18) c.6080_6081dup (p.Val2028LysfsTer18) n.6449_6450dup | ClinVar dbSNP |
| 13 | g.32340805del | CA10586558 | BRCA2 | c.6450del (p.Val2151PhefsTer17) c.6081del (p.Val2028PhefsTer17) n.6450del | ClinVar dbSNP |
| 13 | g.32340804_32340805del | CA024064 | BRCA2 | c.6449_6450del (p.Lys2150SerfsTer25) c.6080_6081del (p.Lys2027SerfsTer25) n.6449_6450del | ClinVar dbSNP |
| 13 | g.32340803_32340813delinsAAAGTTTCTCC | CA2082814681 | BRCA2 | c.6448_6458delinsAAAGTTTCTCC (p.Lys2150=) c.6079_6089delinsAAAGTTTCTCC (p.Lys2027=) n.6448_6458delinsAAAGTTTCTCC | |
| 13 | g.32340804A>C | CA387789328 | BRCA2 | c.6449A>C (p.Lys2150Thr) c.6080A>C (p.Lys2027Thr) n.6449A>C | |
| 13 | g.32340804A>G | CA387789327 | BRCA2 | c.6449A>G (p.Lys2150Arg) c.6080A>G (p.Lys2027Arg) n.6449A>G | |
| 13 | g.32340804A>T | CA387789329 | BRCA2 | c.6449A>T (p.Lys2150Ile) c.6080A>T (p.Lys2027Ile) n.6449A>T | dbSNP |