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.32337432_32337453del | CA645573224 | BRCA2 | c.3077_3098del (p.Lys1026IlefsTer10) c.2708_2729del (p.Lys903IlefsTer10) n.3077_3098del | COSMIC COSMIC |
| 13 | g.32337429_32337457delinsAGAAGAGCAAAATGTTCTTCAAAGATATT | CA2082814174 | BRCA2 | c.3074_3102delinsAGAAGAGCAAAATGTTCTTCAAAGATATT (p.Lys1025=) c.2705_2733delinsAGAAGAGCAAAATGTTCTTCAAAGATATT (p.Lys902=) n.3074_3102delinsAGAAGAGCAAAATGTTCTTCAAAGATATT | |
| 13 | g.32337435_32337462del | CA1139663135 | BRCA2 | c.3080_3107del (p.Ser1027AsnfsTer7) c.2711_2738del (p.Ser904AsnfsTer7) n.3080_3107del | ClinVar dbSNP |
| 13 | g.32337435del | CA2622599265 | BRCA2 | c.3080del (p.Ser1027ThrfsTer16) c.2711del (p.Ser904ThrfsTer16) n.3080del | gnomAD v4 |
| 13 | g.32337435G>A | CA6940663 | BRCA2 | c.3080G>A (p.Ser1027Asn) c.2711G>A (p.Ser904Asn) n.3080G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 13 | g.32337435G>C | CA387775211 | BRCA2 | c.3080G>C (p.Ser1027Thr) c.2711G>C (p.Ser904Thr) n.3080G>C | dbSNP |
| 13 | g.32337435G= | CA2082814249 | BRCA2 | c.3080G= (p.Ser1027=) c.2711G= (p.Ser904=) n.3080G= | |
| 13 | g.32337435G>T | CA387775213 | BRCA2 | c.3080G>T (p.Ser1027Ile) c.2711G>T (p.Ser904Ile) n.3080G>T | dbSNP |
| 13 | g.32337435_32337437delinsCC | CA2580087041 | BRCA2 | c.3080_3082delinsCC (p.Ser1027ThrfsTer16) c.2711_2713delinsCC (p.Ser904ThrfsTer16) n.3080_3082delinsCC | ClinVar |
| 13 | g.32337436C>A | CA387775216 | BRCA2 | c.3081C>A (p.Ser1027Arg) c.2712C>A (p.Ser904Arg) n.3081C>A | ClinVar dbSNP |
| 13 | g.32337436C= | CA2082814256 | BRCA2 | c.3081C= (p.Ser1027=) c.2712C= (p.Ser904=) n.3081C= | |
| 13 | g.32337436C>G | CA387775218 | BRCA2 | c.3081C>G (p.Ser1027Arg) c.2712C>G (p.Ser904Arg) n.3081C>G | ClinVar |
| 13 | g.32337436C>T | CA483437540 | BRCA2 | c.3081C>T (p.Ser1027=) c.2712C>T (p.Ser904=) n.3081C>T | ClinVar |
| 13 | g.32337437A>C | CA387775224 | BRCA2 | c.3082A>C (p.Lys1028Gln) c.2713A>C (p.Lys905Gln) n.3082A>C | gnomAD v4 |
| 13 | g.32337437A>G | CA387775222 | BRCA2 | c.3082A>G (p.Lys1028Glu) c.2713A>G (p.Lys905Glu) n.3082A>G | |
| 13 | g.32337437A>T | CA387775220 | BRCA2 | c.3082A>T (p.Lys1028Ter) c.2713A>T (p.Lys905Ter) n.3082A>T | dbSNP |
| 13 | g.32337438A= | CA2082814262 | BRCA2 | c.3083A= (p.Lys1028=) c.2714A= (p.Lys905=) n.3083A= | |
| 13 | g.32337438A>C | CA387775229 | BRCA2 | c.3083A>C (p.Lys1028Thr) c.2714A>C (p.Lys905Thr) n.3083A>C | ClinVar |
| 13 | g.32337438A>G | CA017201 | BRCA2 | c.3083A>G (p.Lys1028Arg) c.2714A>G (p.Lys905Arg) n.3083A>G | ClinVar dbSNP |
| 13 | g.32337438A>T | CA387775230 | BRCA2 | c.3083A>T (p.Lys1028Ile) c.2714A>T (p.Lys905Ile) n.3083A>T | dbSNP |
| 13 | g.32337439A= | CA2082814271 | BRCA2 | c.3084A= (p.Lys1028=) c.2715A= (p.Lys905=) n.3084A= | |
| 13 | g.32337439A>C | CA387775232 | BRCA2 | c.3084A>C (p.Lys1028Asn) c.2715A>C (p.Lys905Asn) n.3084A>C | ClinVar dbSNP |
| 13 | g.32337439A>G | CA483437543 | BRCA2 | c.3084A>G (p.Lys1028=) c.2715A>G (p.Lys905=) n.3084A>G | dbSNP |
| 13 | g.32337439A>T | CA387775233 | BRCA2 | c.3084A>T (p.Lys1028Asn) c.2715A>T (p.Lys905Asn) n.3084A>T | |
| 13 | g.32337440A= | CA2082814285 | BRCA2 | c.3085A= (p.Met1029=) c.2716A= (p.Met906=) n.3085A= | |
| 13 | g.32337440A>C | CA16619683 | BRCA2 | c.3085A>C (p.Met1029Leu) c.2716A>C (p.Met906Leu) n.3085A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337440A>G | CA017207 | BRCA2 | c.3085A>G (p.Met1029Val) c.2716A>G (p.Met906Val) n.3085A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337440A>T | CA387775235 | BRCA2 | c.3085A>T (p.Met1029Leu) c.2716A>T (p.Met906Leu) n.3085A>T | dbSNP |
| 13 | g.32337441T>A | CA387775238 | BRCA2 | c.3086T>A (p.Met1029Lys) c.2717T>A (p.Met906Lys) n.3086T>A | dbSNP |
| 13 | g.32337441T>C | CA387775241 | BRCA2 | c.3086T>C (p.Met1029Thr) c.2717T>C (p.Met906Thr) n.3086T>C | ClinVar dbSNP |
| 13 | g.32337441T>G | CA387775243 | BRCA2 | c.3086T>G (p.Met1029Arg) c.2717T>G (p.Met906Arg) n.3086T>G | dbSNP |
| 13 | g.32337441dup | CA916080209 | BRCA2 | c.3086dup (p.Met1029IlefsTer7) c.2717dup (p.Met906IlefsTer7) n.3086dup | ClinVar dbSNP |
| 13 | g.32337442G>A | CA387775246 | BRCA2 | c.3087G>A (p.Met1029Ile) c.2718G>A (p.Met906Ile) n.3087G>A | ClinVar dbSNP |
| 13 | g.32337442G>C | CA387775250 | BRCA2 | c.3087G>C (p.Met1029Ile) c.2718G>C (p.Met906Ile) n.3087G>C | dbSNP |
| 13 | g.32337442G>T | CA387775251 | BRCA2 | c.3087G>T (p.Met1029Ile) c.2718G>T (p.Met906Ile) n.3087G>T | |
| 13 | g.32337443T>A | CA387775253 | BRCA2 | c.3088T>A (p.Phe1030Ile) c.2719T>A (p.Phe907Ile) n.3088T>A | dbSNP |
| 13 | g.32337443T>C | CA387775256 | BRCA2 | c.3088T>C (p.Phe1030Leu) c.2719T>C (p.Phe907Leu) n.3088T>C | |
| 13 | g.32337443T>G | CA017215 | BRCA2 | c.3088T>G (p.Phe1030Val) c.2719T>G (p.Phe907Val) n.3088T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337443T= | CA2082814301 | BRCA2 | c.3088T= (p.Phe1030=) c.2719T= (p.Phe907=) n.3088T= | |
| 13 | g.32337444T>A | CA387775262 | BRCA2 | c.3089T>A (p.Phe1030Tyr) c.2720T>A (p.Phe907Tyr) n.3089T>A | dbSNP |
| 13 | g.32337444T>C | CA387775263 | BRCA2 | c.3089T>C (p.Phe1030Ser) c.2720T>C (p.Phe907Ser) n.3089T>C | ClinVar dbSNP |
| 13 | g.32337444T>G | CA387775266 | BRCA2 | c.3089T>G (p.Phe1030Cys) c.2720T>G (p.Phe907Cys) n.3089T>G | |
| 13 | g.32337444T= | CA2082814308 | BRCA2 | c.3089T= (p.Phe1030=) c.2720T= (p.Phe907=) n.3089T= | |
| 13 | g.32337444_32337445insAT | CA2082814307 | BRCA2 | c.3089_3090insAT (p.Phe1030LeufsTer14) c.2720_2721insAT (p.Phe907LeufsTer14) n.3089_3090insAT | dbSNP |