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.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
| 13 | g.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
| 13 | g.32337239_32337498delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT | CA2082812358 | BRCA2 | c.2884_3143delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT (p.His962=) c.2515_2774delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT (p.His839=) n.2884_3143delinsCATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATATCCTACTAGTTTAGCTTGTGTTGAAATTGT | |
| 13 | g.32337240_32337469delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT | CA2082812369 | BRCA2 | c.2885_3114delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT (p.His962=) c.2516_2745delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT (p.His839=) n.2885_3114delinsATATAAAAATGACTCTAGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATAAAATACCAGAAAAAAATAATGATTACATGAACAAATGGGCAGGACTCTTAGGTCCAATTTCAAATCACAGTTTTGGAGGTAGCTTCAGAACAGCTTCAAATAAGGAAATCAAGCTCTCTGAACATAACATTAAGAAGAGCAAAATGTTCTTCAAAGATATTGAAGAACAATAT | |
| 13 | g.32337241_32337499del | CA1139663129 | BRCA2 | c.2886_3144del (p.His962GlnfsTer6) c.2517_2775del (p.His839GlnfsTer6) n.2886_3144del | ClinVar dbSNP |
| 13 | g.32337241_32337469del | CA1139663130 | BRCA2 | c.2886_3114del (p.Ile963LeufsTer4) c.2517_2745del (p.Ile840LeufsTer4) n.2886_3114del | ClinVar dbSNP |
| 13 | g.32337367T>A | CA387774757 | BRCA2 | c.3012T>A (p.Ser1004Arg) c.2643T>A (p.Ser881Arg) n.3012T>A | dbSNP |
| 13 | g.32337367T>C | CA483437378 | BRCA2 | c.3012T>C (p.Ser1004=) c.2643T>C (p.Ser881=) n.3012T>C | dbSNP |
| 13 | g.32337367T>G | CA387774760 | BRCA2 | c.3012T>G (p.Ser1004Arg) c.2643T>G (p.Ser881Arg) n.3012T>G | ClinVar dbSNP |
| 13 | g.32337367T= | CA2082813699 | BRCA2 | c.3012T= (p.Ser1004=) c.2643T= (p.Ser881=) n.3012T= | |
| 13 | g.32337369_32337370dup | CA017053 | BRCA2 | c.3014_3015dup (p.Gly1006LeufsTer?) c.2645_2646dup (p.Gly883LeufsTer?) n.3014_3015dup | ClinVar dbSNP |
| 13 | g.32337370del | CA2499222123 | BRCA2 | c.3015del (p.Phe1005LeufsTer?) c.2646del (p.Phe882LeufsTer?) n.3015del | ClinVar dbSNP |
| 13 | g.32337368T>A | CA387774784 | BRCA2 | c.3013T>A (p.Phe1005Ile) c.2644T>A (p.Phe882Ile) n.3013T>A | dbSNP |
| 13 | g.32337368T>C | CA387774780 | BRCA2 | c.3013T>C (p.Phe1005Leu) c.2644T>C (p.Phe882Leu) n.3013T>C | dbSNP |
| 13 | g.32337368T>G | CA387774778 | BRCA2 | c.3013T>G (p.Phe1005Val) c.2644T>G (p.Phe882Val) n.3013T>G | |
| 13 | g.32337369T>A | CA387774787 | BRCA2 | c.3014T>A (p.Phe1005Tyr) c.2645T>A (p.Phe882Tyr) n.3014T>A | dbSNP |
| 13 | g.32337369T>C | CA387774789 | BRCA2 | c.3014T>C (p.Phe1005Ser) c.2645T>C (p.Phe882Ser) n.3014T>C | ClinVar dbSNP |
| 13 | g.32337369T>G | CA387774793 | BRCA2 | c.3014T>G (p.Phe1005Cys) c.2645T>G (p.Phe882Cys) n.3014T>G | ClinVar |
| 13 | g.32337369T= | CA2082813705 | BRCA2 | c.3014T= (p.Phe1005=) c.2645T= (p.Phe882=) n.3014T= | |
| 13 | g.32337370T>A | CA387774797 | BRCA2 | c.3015T>A (p.Phe1005Leu) c.2646T>A (p.Phe882Leu) n.3015T>A | |
| 13 | g.32337370T>C | CA483437386 | BRCA2 | c.3015T>C (p.Phe1005=) c.2646T>C (p.Phe882=) n.3015T>C | ClinVar |
| 13 | g.32337370T>G | CA387774798 | BRCA2 | c.3015T>G (p.Phe1005Leu) c.2646T>G (p.Phe882Leu) n.3015T>G | |
| 13 | g.32337371G>A | CA387774800 | BRCA2 | c.3016G>A (p.Gly1006Arg) c.2647G>A (p.Gly883Arg) n.3016G>A | ClinVar dbSNP |
| 13 | g.32337371G>C | CA387774803 | BRCA2 | c.3016G>C (p.Gly1006Arg) c.2647G>C (p.Gly883Arg) n.3016G>C | |
| 13 | g.32337371G= | CA2082813715 | BRCA2 | c.3016G= (p.Gly1006=) c.2647G= (p.Gly883=) n.3016G= | |
| 13 | g.32337371G>T | CA10586509 | BRCA2 | c.3016G>T (p.Gly1006Ter) c.2647G>T (p.Gly883Ter) n.3016G>T | ClinVar dbSNP |
| 13 | g.32337372del | CA1139768328 | BRCA2 | c.3017del (p.Gly1006GlufsTer?) c.2648del (p.Gly883GlufsTer?) n.3017del | |
| 13 | g.32337372G>A | CA387774809 | BRCA2 | c.3017G>A (p.Gly1006Glu) c.2648G>A (p.Gly883Glu) n.3017G>A | dbSNP |
| 13 | g.32337372G>C | CA387774811 | BRCA2 | c.3017G>C (p.Gly1006Ala) c.2648G>C (p.Gly883Ala) n.3017G>C | dbSNP |
| 13 | g.32337372G>T | CA387774814 | BRCA2 | c.3017G>T (p.Gly1006Val) c.2648G>T (p.Gly883Val) n.3017G>T | dbSNP |
| 13 | g.32337372_32337373delinsGA | CA2082813724 | BRCA2 | c.3017_3018delinsGA (p.Gly1006=) c.2648_2649delinsGA (p.Gly883=) n.3017_3018delinsGA | |
| 13 | g.32337373del | CA017059 | BRCA2 | c.3018del (p.Gly1007ValfsTer?) c.2649del (p.Gly884ValfsTer?) n.3018del | ClinVar dbSNP |
| 13 | g.32337373A>C | CA483437391 | BRCA2 | c.3018A>C (p.Gly1006=) c.2649A>C (p.Gly883=) n.3018A>C | |
| 13 | g.32337373A>G | CA483437393 | BRCA2 | c.3018A>G (p.Gly1006=) c.2649A>G (p.Gly883=) n.3018A>G | dbSNP |
| 13 | g.32337373A>T | CA483437395 | BRCA2 | c.3018A>T (p.Gly1006=) c.2649A>T (p.Gly883=) n.3018A>T | dbSNP |
| 13 | g.32337374G>A | CA387774823 | BRCA2 | c.3019G>A (p.Gly1007Ser) c.2650G>A (p.Gly884Ser) n.3019G>A | ClinVar dbSNP |
| 13 | g.32337374G>C | CA387774825 | BRCA2 | c.3019G>C (p.Gly1007Arg) c.2650G>C (p.Gly884Arg) n.3019G>C | dbSNP |
| 13 | g.32337374G>T | CA387774819 | BRCA2 | c.3019G>T (p.Gly1007Cys) c.2650G>T (p.Gly884Cys) n.3019G>T | dbSNP |
| 13 | g.32337375G>A | CA387774831 | BRCA2 | c.3020G>A (p.Gly1007Asp) c.2651G>A (p.Gly884Asp) n.3020G>A | ClinVar dbSNP |
| 13 | g.32337375G>C | CA387774828 | BRCA2 | c.3020G>C (p.Gly1007Ala) c.2651G>C (p.Gly884Ala) n.3020G>C | dbSNP |
| 13 | g.32337375G= | CA2082813732 | BRCA2 | c.3020G= (p.Gly1007=) c.2651G= (p.Gly884=) n.3020G= | |
| 13 | g.32337375G>T | CA387774833 | BRCA2 | c.3020G>T (p.Gly1007Val) c.2651G>T (p.Gly884Val) n.3020G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337376T>A | CA483437401 | BRCA2 | c.3021T>A (p.Gly1007=) c.2652T>A (p.Gly884=) n.3021T>A | |
| 13 | g.32337376T>C | CA483437402 | BRCA2 | c.3021T>C (p.Gly1007=) c.2652T>C (p.Gly884=) n.3021T>C | ClinVar gnomAD v4 |
| 13 | g.32337376T>G | CA483437403 | BRCA2 | c.3021T>G (p.Gly1007=) c.2652T>G (p.Gly884=) n.3021T>G | dbSNP |
| 13 | g.32337377A= | CA2082813738 | BRCA2 | c.3022A= (p.Ser1008=) c.2653A= (p.Ser885=) n.3022A= | |
| 13 | g.32337377A>C | CA387774836 | BRCA2 | c.3022A>C (p.Ser1008Arg) c.2653A>C (p.Ser885Arg) n.3022A>C | |
| 13 | g.32337377A>G | CA387774854 | BRCA2 | c.3022A>G (p.Ser1008Gly) c.2653A>G (p.Ser885Gly) n.3022A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337377A>T | CA387774858 | BRCA2 | c.3022A>T (p.Ser1008Cys) c.2653A>T (p.Ser885Cys) n.3022A>T | dbSNP |
| 13 | g.32337378G>A | CA387774863 | BRCA2 | c.3023G>A (p.Ser1008Asn) c.2654G>A (p.Ser885Asn) n.3023G>A | dbSNP |