Linked Data
dbSNP Id:
rs775631019
ExAC:
9:32984881 A / AAC
gnomAD v2:
9-32984881-A-AAC
gnomAD v4:
9-32984883-A-AAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32984885_32984886dup , CM000671.2:g.32984885_32984886dup | GRCh38 |
| NC_000009.11:g.32984883_32984884dup , CM000671.1:g.32984883_32984884dup | GRCh37 |
| NC_000009.10:g.32974883_32974884dup | NCBI36 |
| NG_012821.1:g.21744_21745dup | |
| NG_012821.2:g.45247_45248dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309615.8:c.382-28_382-27dup | ENSP00000311547.4:n.382-28_382-27dup | |
| ENST00000379817.7:c.544-28_544-27dup MANE Select | ENSP00000369145.2:n.544-28_544-27dup | |
| ENST00000379819.6:c.544-28_544-27dup | ENSP00000369147.2:n.544-28_544-27dup | |
| ENST00000379825.7:c.544-28_544-27dup | ENSP00000369153.3:n.544-28_544-27dup | |
| ENST00000397172.8:c.328-28_328-27dup | ENSP00000380357.4:n.328-28_328-27dup | |
| ENST00000436040.7:c.382-28_382-27dup | ENSP00000400806.4:n.382-28_382-27dup | |
| ENST00000460940.6:c.*388+1086_*388+1087dup | ENSP00000418311.1:n.*388+1086_*388+1087dup | |
| ENST00000463596.6:c.544-28_544-27dup | ENSP00000419846.1:n.544-28_544-27dup | |
| ENST00000464632.6:c.*274-28_*274-27dup | ENSP00000418069.2:n.*274-28_*274-27dup | |
| ENST00000465003.6:c.*274-28_*274-27dup | ENSP00000419430.2:n.*274-28_*274-27dup | |
| ENST00000467331.6:c.*389-28_*389-27dup | ENSP00000418733.1:n.*389-28_*389-27dup | |
| ENST00000468275.6:c.544-28_544-27dup | ENSP00000420263.2:n.544-28_544-27dup | |
| ENST00000472896.6:c.*338-28_*338-27dup | ENSP00000417804.2:n.*338-28_*338-27dup | |
| ENST00000474658.7:c.194-28_194-27dup | ENSP00000417750.3:n.194-28_194-27dup | |
| ENST00000476858.6:c.382-28_382-27dup | ENSP00000419042.2:n.382-28_382-27dup | |
| ENST00000477119.2:c.427-28_427-27dup | ENSP00000417649.2:n.427-28_427-27dup | |
| ENST00000478279.6:c.*171-28_*171-27dup | ENSP00000419597.2:n.*171-28_*171-27dup | |
| ENST00000479656.6:c.*389-28_*389-27dup | ENSP00000420071.1:n.*389-28_*389-27dup | |
| ENST00000480031.6:c.*338-28_*338-27dup | ENSP00000417684.1:n.*338-28_*338-27dup | |
| ENST00000482687.6:c.*388+1086_*388+1087dup | ENSP00000419289.2:n.*388+1086_*388+1087dup | |
| ENST00000483148.6:c.*171-28_*171-27dup | ENSP00000419723.1:n.*171-28_*171-27dup | |
| ENST00000485479.6:c.*265-28_*265-27dup | ENSP00000418144.1:n.*265-28_*265-27dup | |
| ENST00000495360.6:c.*287-28_*287-27dup | ENSP00000419623.2:n.*287-28_*287-27dup | |
| ENST00000671774.1:n.142-28_142-27dup | ||
| ENST00000671912.1:c.279+1086_279+1087dup | ENSP00000500871.1:n.279+1086_279+1087dup | |
| ENST00000672152.1:n.740+1086_740+1087dup | ||
| ENST00000672244.1:c.381+1086_381+1087dup | ENSP00000499875.1:n.381+1086_381+1087dup | |
| ENST00000672281.1:n.741-28_741-27dup | ||
| ENST00000672286.1:n.805-28_805-27dup | ||
| ENST00000672438.1:c.280-28_280-27dup | ENSP00000499997.1:n.280-28_280-27dup | |
| ENST00000672476.1:n.736-28_736-27dup | ||
| ENST00000672493.1:n.1083-28_1083-27dup | ||
| ENST00000672519.1:c.*388+1086_*388+1087dup | ENSP00000500320.1:n.*388+1086_*388+1087dup | |
| ENST00000672535.1:c.*274-28_*274-27dup | ENSP00000499872.1:n.*274-28_*274-27dup | |
| ENST00000672615.1:n.621-28_621-27dup | ||
| ENST00000672846.1:c.*274-28_*274-27dup | ENSP00000500396.1:n.*274-28_*274-27dup | |
| ENST00000673114.1:n.408-28_408-27dup | ||
| ENST00000673171.1:n.620+1086_620+1087dup | ||
| ENST00000673211.1:n.626-28_626-27dup | ||
| ENST00000673248.1:c.280-28_280-27dup | ENSP00000500601.1:n.280-28_280-27dup | |
| ENST00000673333.1:n.822-28_822-27dup | ||
| ENST00000673360.1:c.194-28_194-27dup | ENSP00000500360.1:n.194-28_194-27dup | |
| ENST00000673416.1:c.280-28_280-27dup | ENSP00000500738.1:n.280-28_280-27dup | |
| ENST00000673485.1:n.741-28_741-27dup | ||
| ENST00000673487.1:c.*274-28_*274-27dup | ENSP00000500943.1:n.*274-28_*274-27dup | |
| ENST00000673598.1:c.22-28_22-27dup | ENSP00000499991.1:n.22-28_22-27dup | |
| ENST00000309615.7:c.382-28_382-27dup | ENSP00000311547.4:n.382-28_382-27dup | |
| ENST00000379812.9:c.370-28_370-27dup | ENSP00000369140.5:n.370-28_370-27dup | |
| ENST00000379813.7:c.526-28_526-27dup | ENSP00000369141.4:n.526-28_526-27dup | |
| ENST00000379817.6:c.544-28_544-27dup | ENSP00000369145.2:n.544-28_544-27dup | |
| ENST00000379819.5:c.586-28_586-27dup | ENSP00000369147.1:n.586-28_586-27dup | |
| ENST00000379825.6:c.586-28_586-27dup | ENSP00000369153.2:n.586-28_586-27dup | |
| ENST00000397172.7:c.370-28_370-27dup | ENSP00000380357.3:n.370-28_370-27dup | |
| ENST00000436040.6:c.544-28_544-27dup | ENSP00000400806.3:n.544-28_544-27dup | |
| ENST00000460940.5:c.*388+1086_*388+1087dup | ENSP00000418311.1:n.*388+1086_*388+1087dup | |
| ENST00000463596.5:c.544-28_544-27dup | ENSP00000419846.1:n.544-28_544-27dup | |
| ENST00000464632.5:c.*274-28_*274-27dup | ENSP00000418069.1:n.*274-28_*274-27dup | |
| ENST00000465003.5:c.*171-28_*171-27dup | ENSP00000419430.1:n.*171-28_*171-27dup | |
| ENST00000467331.5:c.*389-28_*389-27dup | ENSP00000418733.1:n.*389-28_*389-27dup | |
| ENST00000468275.5:c.544-28_544-27dup | ENSP00000420263.1:n.544-28_544-27dup | |
| ENST00000472896.5:c.*273+1086_*273+1087dup | ENSP00000417804.1:n.*273+1086_*273+1087dup | |
| ENST00000473221.5:c.424-28_424-27dup | ENSP00000419020.1:n.424-28_424-27dup | |
| ENST00000474658.6:c.211-28_211-27dup | ||
| ENST00000476858.5:c.424-28_424-27dup | ENSP00000419042.1:n.424-28_424-27dup | |
| ENST00000477119.1:c.382-28_382-27dup | ENSP00000417649.1:n.382-28_382-27dup | |
| ENST00000478279.5:c.*171-28_*171-27dup | ENSP00000419597.1:n.*171-28_*171-27dup | |
| ENST00000479656.5:c.*389-28_*389-27dup | ENSP00000420071.1:n.*389-28_*389-27dup | |
| ENST00000480031.5:c.*338-28_*338-27dup | ENSP00000417684.1:n.*338-28_*338-27dup | |
| ENST00000482687.5:c.543+1086_543+1087dup | ENSP00000419289.1:n.543+1086_543+1087dup | |
| ENST00000483148.5:c.*170+1086_*170+1087dup | ENSP00000419723.1:n.*170+1086_*170+1087dup | |
| ENST00000485479.5:c.*274-28_*274-27dup | ENSP00000418144.1:n.*274-28_*274-27dup | |
| ENST00000486724.5:n.280-28_280-27dup | ||
| ENST00000494649.5:c.*389-28_*389-27dup | ENSP00000417634.1:n.*389-28_*389-27dup | |
| ENST00000495360.5:c.*274-28_*274-27dup | ENSP00000419623.1:n.*274-28_*274-27dup | |
| NM_001195248.1:c.586-28_586-27dup | NP_001182177.1:n.586-28_586-27dup | |
| NM_001195249.1:c.544-28_544-27dup | NP_001182178.1:n.544-28_544-27dup | |
| NM_001195250.1:c.424-28_424-27dup | NP_001182179.1:n.424-28_424-27dup | |
| NM_001195251.1:c.544-28_544-27dup | NP_001182180.1:n.544-28_544-27dup | |
| NM_001195252.1:c.370-28_370-27dup | NP_001182181.1:n.370-28_370-27dup | |
| NM_001195254.1:c.382-28_382-27dup | NP_001182183.1:n.382-28_382-27dup | |
| NM_175069.2:c.586-28_586-27dup | NP_778239.1:n.586-28_586-27dup | |
| NM_175073.2:c.544-28_544-27dup | NP_778243.1:n.544-28_544-27dup | |
| NR_036576.1:n.618-28_618-27dup | ||
| NR_036577.1:n.508-28_508-27dup | ||
| NR_036578.1:n.640-28_640-27dup | ||
| NR_036579.1:n.787-28_787-27dup | ||
| XM_006716791.2:c.544-28_544-27dup | XP_006716854.1:n.544-28_544-27dup | |
| XM_006716792.2:c.280-28_280-27dup | XP_006716855.1:n.280-28_280-27dup | |
| XM_011517936.1:c.280-28_280-27dup | XP_011516238.1:n.280-28_280-27dup | |
| XM_011517937.1:c.280-28_280-27dup | XP_011516239.1:n.280-28_280-27dup | |
| XM_011517938.1:c.280-28_280-27dup | XP_011516240.1:n.280-28_280-27dup | |
| XM_011517939.1:c.280-28_280-27dup | XP_011516241.1:n.280-28_280-27dup | |
| XR_428423.2:n.622+1086_622+1087dup | ||
| XR_929276.1:n.623-28_623-27dup | ||
| XR_929277.1:n.623-28_623-27dup | ||
| XR_929279.1:n.622+1086_622+1087dup | ||
| XM_006716791.4:c.544-28_544-27dup | XP_006716854.1:n.544-28_544-27dup | |
| XM_006716792.3:c.280-28_280-27dup | XP_006716855.1:n.280-28_280-27dup | |
| XM_011517938.2:c.280-28_280-27dup | XP_011516240.1:n.280-28_280-27dup | |
| XM_011517939.3:c.280-28_280-27dup | XP_011516241.1:n.280-28_280-27dup | |
| XM_017014831.1:c.586-28_586-27dup | XP_016870320.1:n.586-28_586-27dup | |
| XM_017014832.1:c.586-28_586-27dup | XP_016870321.1:n.586-28_586-27dup | |
| XM_017014833.2:c.586-28_586-27dup | XP_016870322.1:n.586-28_586-27dup | |
| XM_017014836.2:c.586-28_586-27dup | XP_016870325.1:n.586-28_586-27dup | |
| XM_017014837.2:c.382-28_382-27dup | XP_016870326.1:n.382-28_382-27dup | |
| XM_017014838.1:c.280-28_280-27dup | XP_016870327.1:n.280-28_280-27dup | |
| XM_024447575.1:c.544-28_544-27dup | XP_024303343.1:n.544-28_544-27dup | |
| XM_024447576.1:c.544-28_544-27dup | XP_024303344.1:n.544-28_544-27dup | |
| XM_024447577.1:c.544-28_544-27dup | XP_024303345.1:n.544-28_544-27dup | |
| XM_024447578.1:c.586-28_586-27dup | XP_024303346.1:n.586-28_586-27dup | |
| XM_024447579.1:c.544-28_544-27dup | XP_024303347.1:n.544-28_544-27dup | |
| XM_024447580.1:c.382-28_382-27dup | XP_024303348.1:n.382-28_382-27dup | |
| XM_024447581.1:c.280-28_280-27dup | XP_024303349.1:n.280-28_280-27dup | |
| XM_024447582.1:c.280-28_280-27dup | XP_024303350.1:n.280-28_280-27dup | |
| XR_001746325.2:n.623-28_623-27dup | ||
| XR_001746326.2:n.631-28_631-27dup | ||
| XR_428423.3:n.622+1086_622+1087dup | ||
| XR_929276.3:n.623-28_623-27dup | ||
| XR_929277.3:n.623-28_623-27dup | ||
| NM_001195248.2:c.544-28_544-27dup MANE Select | NP_001182177.2:n.544-28_544-27dup | |
| NM_001195250.2:c.382-28_382-27dup | NP_001182179.2:n.382-28_382-27dup | |
| NM_001195252.2:c.328-28_328-27dup | NP_001182181.2:n.328-28_328-27dup | |
| NM_001368995.1:c.544-28_544-27dup | NP_001355924.1:n.544-28_544-27dup | |
| NM_001368996.1:c.544-28_544-27dup | NP_001355925.1:n.544-28_544-27dup | |
| NM_001368997.1:c.544-28_544-27dup | NP_001355926.1:n.544-28_544-27dup | |
| NM_001368998.1:c.544-28_544-27dup | NP_001355927.1:n.544-28_544-27dup | |
| NM_001368999.1:c.544-28_544-27dup | NP_001355928.1:n.544-28_544-27dup | |
| NM_001369000.1:c.382-28_382-27dup | NP_001355929.1:n.382-28_382-27dup | |
| NM_001369001.1:c.382-28_382-27dup | NP_001355930.1:n.382-28_382-27dup | |
| NM_001369002.1:c.280-28_280-27dup | NP_001355931.1:n.280-28_280-27dup | |
| NM_001369003.1:c.280-28_280-27dup | NP_001355932.1:n.280-28_280-27dup | |
| NM_001369004.1:c.280-28_280-27dup | NP_001355933.1:n.280-28_280-27dup | |
| NM_001369005.1:c.280-28_280-27dup | NP_001355934.1:n.280-28_280-27dup | |
| NM_001369006.1:c.280-28_280-27dup | NP_001355935.1:n.280-28_280-27dup | |
| NM_001370669.1:c.280-28_280-27dup | NP_001357598.1:n.280-28_280-27dup | |
| NM_001370670.1:c.280-28_280-27dup | NP_001357599.1:n.280-28_280-27dup | |
| NM_001370673.1:c.280-28_280-27dup | NP_001357602.1:n.280-28_280-27dup | |
| NM_175069.3:c.544-28_544-27dup | NP_778239.2:n.544-28_544-27dup | |
| NR_160920.1:n.609+1086_609+1087dup | ||
| NR_160921.1:n.514-28_514-27dup | ||
| NR_160922.1:n.745-28_745-27dup | ||
| NR_160923.1:n.549-28_549-27dup | ||
| NR_160924.1:n.554-28_554-27dup | ||
| NR_160925.1:n.750-28_750-27dup | ||
| NR_160926.1:n.540-28_540-27dup | ||
| NR_160927.1:n.859+1086_859+1087dup | ||
| NR_160928.1:n.749+1086_749+1087dup | ||
| NR_160929.1:n.663+1086_663+1087dup | ||
| NR_160930.1:n.490-28_490-27dup | ||
| NR_160931.1:n.729-28_729-27dup | ||
| NM_001195249.2:c.544-28_544-27dup | NP_001182178.1:n.544-28_544-27dup | |
| NM_001195251.2:c.544-28_544-27dup | NP_001182180.1:n.544-28_544-27dup | |
| NM_001195254.2:c.382-28_382-27dup | NP_001182183.1:n.382-28_382-27dup | |
| NM_175073.3:c.544-28_544-27dup | NP_778243.1:n.544-28_544-27dup | |
| NR_036577.2:n.495-28_495-27dup |