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_32337434dup | CA16619682 | BRCA2 | c.3077_3079dup (p.Lys1026_Ser1027insLys) c.2708_2710dup (p.Lys903_Ser904insLys) n.3077_3079dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337432_32337434del | CA913190905 | BRCA2 | c.3077_3079del (p.Lys1026del) c.2708_2710del (p.Lys903del) n.3077_3079del | 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.32337430_32337431delinsGA | CA2082814188 | BRCA2 | c.3075_3076delinsGA (p.Lys1025=) c.2706_2707delinsGA (p.Lys902=) n.3075_3076delinsGA | |
| 13 | g.32337430_32337431delinsTT | CA017179 | BRCA2 | c.3075_3076delinsTT (p.Lys1025AsnfsTer2) c.2706_2707delinsTT (p.Lys902AsnfsTer2) n.3075_3076delinsTT | ClinVar dbSNP |
| 13 | g.32337430_32337432delinsGAA | CA2082814185 | BRCA2 | c.3075_3077delinsGAA (p.Lys1025=) c.2706_2708delinsGAA (p.Lys902=) n.3075_3077delinsGAA | |
| 13 | g.32337435_32337462del | CA1139663135 | BRCA2 | c.3080_3107del (p.Ser1027AsnfsTer7) c.2711_2738del (p.Ser904AsnfsTer7) n.3080_3107del | ClinVar dbSNP |
| 13 | g.32337431A= | CA2082814208 | BRCA2 | c.3076A= (p.Lys1026=) c.2707A= (p.Lys903=) n.3076A= | |
| 13 | g.32337431A>C | CA387775189 | BRCA2 | c.3076A>C (p.Lys1026Gln) c.2707A>C (p.Lys903Gln) n.3076A>C | |
| 13 | g.32337431A>G | CA387775191 | BRCA2 | c.3076A>G (p.Lys1026Glu) c.2707A>G (p.Lys903Glu) n.3076A>G | gnomAD v4 |
| 13 | g.32337431A>T | CA017194 | BRCA2 | c.3076A>T (p.Lys1026Ter) c.2707A>T (p.Lys903Ter) n.3076A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337431_32337432del | CA16042138 | BRCA2 | c.3076_3077del (p.Lys1026GlufsTer9) c.2707_2708del (p.Lys903GlufsTer9) n.3076_3077del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337432del | CA16613865 | BRCA2 | c.3077del (p.Lys1026ArgfsTer17) c.2708del (p.Lys903ArgfsTer17) n.3077del | ClinVar dbSNP |
| 13 | g.32337432A= | CA2082814219 | BRCA2 | c.3077A= (p.Lys1026=) c.2708A= (p.Lys903=) n.3077A= | |
| 13 | g.32337432A>C | CA387775196 | BRCA2 | c.3077A>C (p.Lys1026Thr) c.2708A>C (p.Lys903Thr) n.3077A>C | ClinVar dbSNP |
| 13 | g.32337432A>G | CA16614262 | BRCA2 | c.3077A>G (p.Lys1026Arg) c.2708A>G (p.Lys903Arg) n.3077A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337432A>T | CA387775194 | BRCA2 | c.3077A>T (p.Lys1026Met) c.2708A>T (p.Lys903Met) n.3077A>T | |
| 13 | g.32337433G>A | CA6940662 | BRCA2 | c.3078G>A (p.Lys1026=) c.2709G>A (p.Lys903=) n.3078G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337433G>C | CA387775200 | BRCA2 | c.3078G>C (p.Lys1026Asn) c.2709G>C (p.Lys903Asn) n.3078G>C | ClinVar dbSNP |
| 13 | g.32337433G= | CA2082814237 | BRCA2 | c.3078G= (p.Lys1026=) c.2709G= (p.Lys903=) n.3078G= | |
| 13 | g.32337433G>T | CA387775203 | BRCA2 | c.3078G>T (p.Lys1026Asn) c.2709G>T (p.Lys903Asn) n.3078G>T | dbSNP gnomAD v4 |
| 13 | g.32337434A>C | CA387775204 | BRCA2 | c.3079A>C (p.Ser1027Arg) c.2710A>C (p.Ser904Arg) n.3079A>C | |
| 13 | g.32337434A>G | CA387775206 | BRCA2 | c.3079A>G (p.Ser1027Gly) c.2710A>G (p.Ser904Gly) n.3079A>G | ClinVar |
| 13 | g.32337434A>T | CA387775208 | BRCA2 | c.3079A>T (p.Ser1027Cys) c.2710A>T (p.Ser904Cys) n.3079A>T | 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 |