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.32339734_32339740del | CA1139771100 | BRCA2 | c.5379_5385del (p.Asn1793LysfsTer10) c.5010_5016del (p.Asn1670LysfsTer10) n.5379_5385del | |
| 13 | g.32339737A>C | CA483438675 | BRCA2 | c.5382A>C (p.Val1794=) c.5013A>C (p.Val1671=) n.5382A>C | |
| 13 | g.32339737A>G | CA483438677 | BRCA2 | c.5382A>G (p.Val1794=) c.5013A>G (p.Val1671=) n.5382A>G | ClinVar |
| 13 | g.32339737A>T | CA483438679 | BRCA2 | c.5382A>T (p.Val1794=) c.5013A>T (p.Val1671=) n.5382A>T | ClinVar dbSNP |
| 13 | g.32339740dup | CA913190950 | BRCA2 | c.5385dup (p.Asp1796ArgfsTer11) c.5016dup (p.Asp1673ArgfsTer11) n.5385dup | ClinVar dbSNP |
| 13 | g.32339740del | CA2727874185 | BRCA2 | c.5385del (p.Asp1796MetfsTer9) c.5016del (p.Asp1673MetfsTer9) n.5385del | dbSNP |
| 13 | g.32339738A>C | CA387785211 | BRCA2 | c.5383A>C (p.Lys1795Gln) c.5014A>C (p.Lys1672Gln) n.5383A>C | |
| 13 | g.32339738A>G | CA387785213 | BRCA2 | c.5383A>G (p.Lys1795Glu) c.5014A>G (p.Lys1672Glu) n.5383A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339738A>T | CA387785217 | BRCA2 | c.5383A>T (p.Lys1795Ter) c.5014A>T (p.Lys1672Ter) n.5383A>T | dbSNP |
| 13 | g.32339741_32339748del | CA2580087363 | BRCA2 | c.5386_5393del (p.Asp1796CysfsTer8) c.5017_5024del (p.Asp1673CysfsTer8) n.5386_5393del | ClinVar |
| 13 | g.32339739A= | CA2082822717 | BRCA2 | c.5384A= (p.Lys1795=) c.5015A= (p.Lys1672=) n.5384A= | |
| 13 | g.32339739A>C | CA387785220 | BRCA2 | c.5384A>C (p.Lys1795Thr) c.5015A>C (p.Lys1672Thr) n.5384A>C | ClinVar dbSNP |
| 13 | g.32339739A>G | CA387785221 | BRCA2 | c.5384A>G (p.Lys1795Arg) c.5015A>G (p.Lys1672Arg) n.5384A>G | ClinVar dbSNP |
| 13 | g.32339739A>T | CA387785224 | BRCA2 | c.5384A>T (p.Lys1795Ile) c.5015A>T (p.Lys1672Ile) n.5384A>T | |
| 13 | g.32339739_32339741delinsAAG | CA2082822714 | BRCA2 | c.5384_5386delinsAAG (p.Lys1795=) c.5015_5017delinsAAG (p.Lys1672=) n.5384_5386delinsAAG | |
| 13 | g.32339740A= | CA2082822736 | BRCA2 | c.5385A= (p.Lys1795=) c.5016A= (p.Lys1672=) n.5385A= | |
| 13 | g.32339740A>C | CA387785228 | BRCA2 | c.5385A>C (p.Lys1795Asn) c.5016A>C (p.Lys1672Asn) n.5385A>C | |
| 13 | g.32339740A>G | CA483438681 | BRCA2 | c.5385A>G (p.Lys1795=) c.5016A>G (p.Lys1672=) n.5385A>G | dbSNP |
| 13 | g.32339740A>T | CA387785231 | BRCA2 | c.5385A>T (p.Lys1795Asn) c.5016A>T (p.Lys1672Asn) n.5385A>T | ClinVar dbSNP |
| 13 | g.32339740_32339741delinsAG | CA2082822741 | BRCA2 | c.5385_5386delinsAG (p.Lys1795=) c.5016_5017delinsAG (p.Lys1672=) n.5385_5386delinsAG | |
| 13 | g.32339741_32339742del | CA022186 | BRCA2 | c.5386_5387del (p.Asp1796CysfsTer10) c.5017_5018del (p.Asp1673CysfsTer10) n.5386_5387del | ClinVar dbSNP |
| 13 | g.32339741del | CA022191 | BRCA2 | c.5386del (p.Asp1796MetfsTer9) c.5017del (p.Asp1673MetfsTer9) n.5386del | ClinVar dbSNP |
| 13 | g.32339741G>A | CA387785235 | BRCA2 | c.5386G>A (p.Asp1796Asn) c.5017G>A (p.Asp1673Asn) n.5386G>A | ClinVar dbSNP |
| 13 | g.32339741G>C | CA387785238 | BRCA2 | c.5386G>C (p.Asp1796His) c.5017G>C (p.Asp1673His) n.5386G>C | dbSNP |
| 13 | g.32339741G= | CA2082822752 | BRCA2 | c.5386G= (p.Asp1796=) c.5017G= (p.Asp1673=) n.5386G= | |
| 13 | g.32339741G>T | CA16619723 | BRCA2 | c.5386G>T (p.Asp1796Tyr) c.5017G>T (p.Asp1673Tyr) n.5386G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339742A= | CA2082822767 | BRCA2 | c.5387A= (p.Asp1796=) c.5018A= (p.Asp1673=) n.5387A= | |
| 13 | g.32339742A>C | CA387785249 | BRCA2 | c.5387A>C (p.Asp1796Ala) c.5018A>C (p.Asp1673Ala) n.5387A>C | |
| 13 | g.32339742A>G | CA387785244 | BRCA2 | c.5387A>G (p.Asp1796Gly) c.5018A>G (p.Asp1673Gly) n.5387A>G | |
| 13 | g.32339742A>T | CA387785246 | BRCA2 | c.5387A>T (p.Asp1796Val) c.5018A>T (p.Asp1673Val) n.5387A>T | dbSNP |
| 13 | g.32339743del | CA2499222195 | BRCA2 | c.5388del (p.Asp1796GlufsTer9) c.5019del (p.Asp1673GlufsTer9) n.5388del | |
| 13 | g.32339743T>A | CA387785251 | BRCA2 | c.5388T>A (p.Asp1796Glu) c.5019T>A (p.Asp1673Glu) n.5388T>A | dbSNP |
| 13 | g.32339743T>C | CA483438684 | BRCA2 | c.5388T>C (p.Asp1796=) c.5019T>C (p.Asp1673=) n.5388T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32339743T>G | CA387785253 | BRCA2 | c.5388T>G (p.Asp1796Glu) c.5019T>G (p.Asp1673Glu) n.5388T>G | dbSNP |
| 13 | g.32339743T= | CA2082822778 | BRCA2 | c.5388T= (p.Asp1796=) c.5019T= (p.Asp1673=) n.5388T= | |
| 13 | g.32339743dup | CA891844235 | BRCA2 | c.5388dup (p.Ala1797CysfsTer10) c.5019dup (p.Ala1674CysfsTer10) n.5388dup | ClinVar dbSNP |
| 13 | g.32339743_32339745delinsTGC | CA2082822775 | BRCA2 | c.5388_5390delinsTGC (p.Asp1796=) c.5019_5021delinsTGC (p.Asp1673=) n.5388_5390delinsTGC | |
| 13 | g.32339744G>A | CA387785257 | BRCA2 | c.5389G>A (p.Ala1797Thr) c.5020G>A (p.Ala1674Thr) n.5389G>A | dbSNP |
| 13 | g.32339744G>C | CA387785260 | BRCA2 | c.5389G>C (p.Ala1797Pro) c.5020G>C (p.Ala1674Pro) n.5389G>C | dbSNP |
| 13 | g.32339744G>T | CA387785262 | BRCA2 | c.5389G>T (p.Ala1797Ser) c.5020G>T (p.Ala1674Ser) n.5389G>T | |
| 13 | g.32339744_32339745del | CA022198 | BRCA2 | c.5389_5390del (p.Ala1797LysfsTer9) c.5020_5021del (p.Ala1674LysfsTer9) n.5389_5390del | ClinVar dbSNP |
| 13 | g.32339744_32339745delinsGC | CA2082822802 | BRCA2 | c.5389_5390delinsGC (p.Ala1797=) c.5020_5021delinsGC (p.Ala1674=) n.5389_5390delinsGC | |
| 13 | g.32339745del | CA022210 | BRCA2 | c.5390del (p.Ala1797GlufsTer8) c.5021del (p.Ala1674GlufsTer8) n.5390del | ClinVar dbSNP |
| 13 | g.32339745C>A | CA387785268 | BRCA2 | c.5390C>A (p.Ala1797Glu) c.5021C>A (p.Ala1674Glu) n.5390C>A | dbSNP |
| 13 | g.32339745C= | CA2082822814 | BRCA2 | c.5390C= (p.Ala1797=) c.5021C= (p.Ala1674=) n.5390C= | |
| 13 | g.32339745C>G | CA022204 | BRCA2 | c.5390C>G (p.Ala1797Gly) c.5021C>G (p.Ala1674Gly) n.5390C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32339745C>T | CA387785264 | BRCA2 | c.5390C>T (p.Ala1797Val) c.5021C>T (p.Ala1674Val) n.5390C>T | dbSNP |
| 13 | g.32339746A>C | CA483438688 | BRCA2 | c.5391A>C (p.Ala1797=) c.5022A>C (p.Ala1674=) n.5391A>C | |
| 13 | g.32339746A>G | CA483438689 | BRCA2 | c.5391A>G (p.Ala1797=) c.5022A>G (p.Ala1674=) n.5391A>G | ClinVar dbSNP |