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.32337324_32337337delinsTGAACAAATGGGCA | CA2082813294 | BRCA2 | c.2969_2982delinsTGAACAAATGGGCA (p.Met990=) c.2600_2613delinsTGAACAAATGGGCA (p.Met867=) n.2969_2982delinsTGAACAAATGGGCA | |
| 13 | g.32337326_32337338del | CA10589182 | BRCA2 | c.2971_2983del (p.Asn991AspfsTer3) c.2602_2614del (p.Asn868AspfsTer3) n.2971_2983del | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337335del | CA1139532605 | BRCA2 | c.2980del (p.Ala994GlnfsTer4) c.2611del (p.Ala871GlnfsTer4) n.2980del | ClinVar dbSNP |
| 13 | g.32337335_32337339del | CA2695218023 | BRCA2 | c.2980_2984del (p.Ala994ThrfsTer13) c.2611_2615del (p.Ala871ThrfsTer13) n.2980_2984del | |
| 13 | g.32337333_32337341del | CA2697551738 | BRCA2 | c.2978_2986del (p.Trp993_Leu996delinsPhe) c.2609_2617del (p.Trp870_Leu873delinsPhe) n.2978_2986del | ClinVar |
| 13 | g.32337335G>A | CA016949 | BRCA2 | c.2980G>A (p.Ala994Thr) c.2611G>A (p.Ala871Thr) n.2980G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337335G>C | CA387774565 | BRCA2 | c.2980G>C (p.Ala994Pro) c.2611G>C (p.Ala871Pro) n.2980G>C | dbSNP |
| 13 | g.32337335G= | CA2082813359 | BRCA2 | c.2980G= (p.Ala994=) c.2611G= (p.Ala871=) n.2980G= | |
| 13 | g.32337335G>T | CA387774566 | BRCA2 | c.2980G>T (p.Ala994Ser) c.2611G>T (p.Ala871Ser) n.2980G>T | dbSNP |
| 13 | g.32337336C>A | CA387774567 | BRCA2 | c.2981C>A (p.Ala994Glu) c.2612C>A (p.Ala871Glu) n.2981C>A | dbSNP |
| 13 | g.32337336C= | CA2082813367 | BRCA2 | c.2981C= (p.Ala994=) c.2612C= (p.Ala871=) n.2981C= | |
| 13 | g.32337336C>G | CA387774568 | BRCA2 | c.2981C>G (p.Ala994Gly) c.2612C>G (p.Ala871Gly) n.2981C>G | dbSNP gnomAD v4 |
| 13 | g.32337336C>T | CA016957 | BRCA2 | c.2981C>T (p.Ala994Val) c.2612C>T (p.Ala871Val) n.2981C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337337A= | CA2082813376 | BRCA2 | c.2982A= (p.Ala994=) c.2613A= (p.Ala871=) n.2982A= | |
| 13 | g.32337337A>C | CA483437278 | BRCA2 | c.2982A>C (p.Ala994=) c.2613A>C (p.Ala871=) n.2982A>C | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337337A>G | CA483437279 | BRCA2 | c.2982A>G (p.Ala994=) c.2613A>G (p.Ala871=) n.2982A>G | |
| 13 | g.32337337A>T | CA483437281 | BRCA2 | c.2982A>T (p.Ala994=) c.2613A>T (p.Ala871=) n.2982A>T | ClinVar |
| 13 | g.32337338G>A | CA387774571 | BRCA2 | c.2983G>A (p.Gly995Arg) c.2614G>A (p.Gly872Arg) n.2983G>A | ClinVar dbSNP |
| 13 | g.32337338G>C | CA387774573 | BRCA2 | c.2983G>C (p.Gly995Arg) c.2614G>C (p.Gly872Arg) n.2983G>C | dbSNP |
| 13 | g.32337338G= | CA2082813384 | BRCA2 | c.2983G= (p.Gly995=) c.2614G= (p.Gly872=) n.2983G= | |
| 13 | g.32337338G>T | CA10589183 | BRCA2 | c.2983G>T (p.Gly995Ter) c.2614G>T (p.Gly872Ter) n.2983G>T | ClinVar dbSNP |
| 13 | g.32337339G>A | CA387774577 | BRCA2 | c.2984G>A (p.Gly995Glu) c.2615G>A (p.Gly872Glu) n.2984G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337339G>C | CA016963 | BRCA2 | c.2984G>C (p.Gly995Ala) c.2615G>C (p.Gly872Ala) n.2984G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337339G= | CA2082813396 | BRCA2 | c.2984G= (p.Gly995=) c.2615G= (p.Gly872=) n.2984G= | |
| 13 | g.32337339G>T | CA387774581 | BRCA2 | c.2984G>T (p.Gly995Val) c.2615G>T (p.Gly872Val) n.2984G>T | gnomAD v4 |
| 13 | g.32337340A>C | CA483437283 | BRCA2 | c.2985A>C (p.Gly995=) c.2616A>C (p.Gly872=) n.2985A>C | ClinVar dbSNP |
| 13 | g.32337340A>G | CA483437285 | BRCA2 | c.2985A>G (p.Gly995=) c.2616A>G (p.Gly872=) n.2985A>G | |
| 13 | g.32337340A>T | CA483437287 | BRCA2 | c.2985A>T (p.Gly995=) c.2616A>T (p.Gly872=) n.2985A>T | dbSNP COSMIC COSMIC |
| 13 | g.32337341C>A | CA387774584 | BRCA2 | c.2986C>A (p.Leu996Ile) c.2617C>A (p.Leu873Ile) n.2986C>A | dbSNP |
| 13 | g.32337341C= | CA2082813406 | BRCA2 | c.2986C= (p.Leu996=) c.2617C= (p.Leu873=) n.2986C= | |
| 13 | g.32337341C>G | CA387774588 | BRCA2 | c.2986C>G (p.Leu996Val) c.2617C>G (p.Leu873Val) n.2986C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337341C>T | CA387774591 | BRCA2 | c.2986C>T (p.Leu996Phe) c.2617C>T (p.Leu873Phe) n.2986C>T | |
| 13 | g.32337342T>A | CA387774594 | BRCA2 | c.2987T>A (p.Leu996His) c.2618T>A (p.Leu873His) n.2987T>A | ClinVar dbSNP |
| 13 | g.32337342T>C | CA387774596 | BRCA2 | c.2987T>C (p.Leu996Pro) c.2618T>C (p.Leu873Pro) n.2987T>C | ClinVar |
| 13 | g.32337342T>G | CA016971 | BRCA2 | c.2987T>G (p.Leu996Arg) c.2618T>G (p.Leu873Arg) n.2987T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337342T= | CA2082813418 | BRCA2 | c.2987T= (p.Leu996=) c.2618T= (p.Leu873=) n.2987T= | |
| 13 | g.32337342dup | CA609453775 | BRCA2 | c.2987dup (p.Gly998ArgfsTer11) c.2618dup (p.Gly875ArgfsTer11) n.2987dup | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337343C>A | CA483437289 | BRCA2 | c.2988C>A (p.Leu996=) c.2619C>A (p.Leu873=) n.2988C>A | |
| 13 | g.32337343C= | CA2082813429 | BRCA2 | c.2988C= (p.Leu996=) c.2619C= (p.Leu873=) n.2988C= | |
| 13 | g.32337343C>G | CA6940650 | BRCA2 | c.2988C>G (p.Leu996=) c.2619C>G (p.Leu873=) n.2988C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337343C>T | CA483437288 | BRCA2 | c.2988C>T (p.Leu996=) c.2619C>T (p.Leu873=) n.2988C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337343_32337345delinsCTT | CA2082813439 | BRCA2 | c.2988_2990delinsCTT (p.Leu996=) c.2619_2621delinsCTT (p.Leu873=) n.2988_2990delinsCTT | |
| 13 | g.32337343_32337346dup | CA2580086909 | BRCA2 | c.2988_2991dup (p.Gly998LeufsTer12) c.2619_2622dup (p.Gly875LeufsTer12) n.2988_2991dup | ClinVar |
| 13 | g.32337343_32337352del | CA2739277534 | BRCA2 | c.2988_2997del (p.Leu997PhefsTer?) c.2619_2628del (p.Leu874PhefsTer?) n.2988_2997del | ClinVar |