Canonical Allele Identifier: CA863361267
Gene: APTX HGNC NCBI

Linked Data

dbSNP Id: rs1411060535

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32984716_32984719del , CM000671.2:g.32984716_32984719del GRCh38
NC_000009.11:g.32984714_32984717del , CM000671.1:g.32984714_32984717del GRCh37
NC_000009.10:g.32974714_32974717del NCBI36
NG_012821.1:g.21911_21914del
NG_012821.2:g.45414_45417del

Transcript Alleles

HGVS Amino-acid Change
ENST00000309615.8:c.521_524del ENSP00000311547.4:p.His174LeufsTer6
ENST00000379817.7:c.683_686del MANE Select ENSP00000369145.2:p.His228LeufsTer6
ENST00000379819.6:c.683_686del ENSP00000369147.2:p.His228LeufsTer6
ENST00000379825.7:c.683_686del ENSP00000369153.3:p.His228LeufsTer6
ENST00000397172.8:c.467_470del ENSP00000380357.4:p.His156LeufsTer6
ENST00000436040.7:c.521_524del ENSP00000400806.4:p.His174LeufsTer6
ENST00000460940.6:c.*388+1253_*388+1256del ENSP00000418311.1:n.*388+1253_*388+1256del
ENST00000463596.6:c.683_686del ENSP00000419846.1:p.His228LeufsTer6
ENST00000464632.6:c.*413_*416del ENSP00000418069.2:n.*413_*416del
ENST00000465003.6:c.*413_*416del ENSP00000419430.2:n.*413_*416del
ENST00000467331.6:c.*528_*531del ENSP00000418733.1:n.*528_*531del
ENST00000468275.6:c.683_686del ENSP00000420263.2:p.His228LeufsTer6
ENST00000472896.6:c.*477_*480del ENSP00000417804.2:n.*477_*480del
ENST00000474658.7:c.*126_*129del ENSP00000417750.3:n.*126_*129del
ENST00000476858.6:c.521_524del ENSP00000419042.2:p.His174LeufsTer6
ENST00000477119.2:c.566_569del ENSP00000417649.2:p.His189LeufsTer6
ENST00000478279.6:c.*310_*313del ENSP00000419597.2:n.*310_*313del
ENST00000479656.6:c.*528_*531del ENSP00000420071.1:n.*528_*531del
ENST00000480031.6:c.*477_*480del ENSP00000417684.1:n.*477_*480del
ENST00000482687.6:c.*388+1253_*388+1256del ENSP00000419289.2:n.*388+1253_*388+1256del
ENST00000483148.6:c.*310_*313del ENSP00000419723.1:n.*310_*313del
ENST00000485479.6:c.*404_*407del ENSP00000418144.1:n.*404_*407del
ENST00000495360.6:c.*426_*429del ENSP00000419623.2:n.*426_*429del
ENST00000671774.1:n.281_284del
ENST00000671912.1:c.279+1253_279+1256del ENSP00000500871.1:n.279+1253_279+1256del
ENST00000672152.1:n.740+1253_740+1256del
ENST00000672244.1:c.381+1253_381+1256del ENSP00000499875.1:n.381+1253_381+1256del
ENST00000672281.1:n.880_883del
ENST00000672286.1:n.944_947del
ENST00000672438.1:c.419_422del ENSP00000499997.1:p.His140LeufsTer6
ENST00000672476.1:n.875_878del
ENST00000672493.1:n.1222_1225del
ENST00000672519.1:c.*388+1253_*388+1256del ENSP00000500320.1:n.*388+1253_*388+1256del
ENST00000672535.1:c.*413_*416del ENSP00000499872.1:n.*413_*416del
ENST00000672615.1:n.760_763del
ENST00000672846.1:c.*413_*416del ENSP00000500396.1:n.*413_*416del
ENST00000673114.1:n.547_550del
ENST00000673171.1:n.620+1253_620+1256del
ENST00000673211.1:n.765_768del
ENST00000673248.1:c.419_422del ENSP00000500601.1:p.His140LeufsTer6
ENST00000673333.1:n.961_964del
ENST00000673360.1:c.*126_*129del ENSP00000500360.1:n.*126_*129del
ENST00000673416.1:c.419_422del ENSP00000500738.1:p.His140LeufsTer6
ENST00000673485.1:n.880_883del
ENST00000673487.1:c.*413_*416del ENSP00000500943.1:n.*413_*416del
ENST00000673598.1:c.161_164del ENSP00000499991.1:p.His54LeufsTer6
ENST00000309615.7:c.521_524del ENSP00000311547.4:p.His174LeufsTer6
ENST00000379812.9:c.509_512del ENSP00000369140.5:p.His170LeufsTer6
ENST00000379813.7:c.665_668del ENSP00000369141.4:p.His222LeufsTer6
ENST00000379817.6:c.683_686del ENSP00000369145.2:p.His228LeufsTer6
ENST00000379819.5:c.725_728del ENSP00000369147.1:p.His242LeufsTer6
ENST00000379825.6:c.725_728del ENSP00000369153.2:p.His242LeufsTer6
ENST00000397172.7:c.509_512del ENSP00000380357.3:p.His170LeufsTer6
ENST00000436040.6:c.683_686del ENSP00000400806.3:p.His228LeufsTer6
ENST00000460940.5:c.*388+1253_*388+1256del ENSP00000418311.1:n.*388+1253_*388+1256del
ENST00000463596.5:c.683_686del ENSP00000419846.1:p.His228LeufsTer6
ENST00000464632.5:c.*413_*416del ENSP00000418069.1:n.*413_*416del
ENST00000465003.5:c.*310_*313del ENSP00000419430.1:n.*310_*313del
ENST00000467331.5:c.*528_*531del ENSP00000418733.1:n.*528_*531del
ENST00000468275.5:c.683_686del ENSP00000420263.1:p.His228LeufsTer6
ENST00000472896.5:c.*273+1253_*273+1256del ENSP00000417804.1:n.*273+1253_*273+1256del
ENST00000473221.5:c.563_566del ENSP00000419020.1:p.His188LeufsTer6
ENST00000474658.6:c.350_353del
ENST00000476858.5:c.563_566del ENSP00000419042.1:p.His188LeufsTer6
ENST00000478279.5:c.*310_*313del ENSP00000419597.1:n.*310_*313del
ENST00000479656.5:c.*528_*531del ENSP00000420071.1:n.*528_*531del
ENST00000480031.5:c.*477_*480del ENSP00000417684.1:n.*477_*480del
ENST00000482687.5:c.543+1253_543+1256del ENSP00000419289.1:n.543+1253_543+1256del
ENST00000483148.5:c.*170+1253_*170+1256del ENSP00000419723.1:n.*170+1253_*170+1256del
ENST00000485479.5:c.*413_*416del ENSP00000418144.1:n.*413_*416del
ENST00000486724.5:n.419_422del
ENST00000494649.5:c.*528_*531del ENSP00000417634.1:n.*528_*531del
ENST00000495360.5:c.*413_*416del ENSP00000419623.1:n.*413_*416del
NM_001195248.1:c.725_728del NP_001182177.1:p.His242LeufsTer6
NM_001195249.1:c.683_686del NP_001182178.1:p.His228LeufsTer6
NM_001195250.1:c.563_566del NP_001182179.1:p.His188LeufsTer6
NM_001195251.1:c.683_686del NP_001182180.1:p.His228LeufsTer6
NM_001195252.1:c.509_512del NP_001182181.1:p.His170LeufsTer6
NM_001195254.1:c.521_524del NP_001182183.1:p.His174LeufsTer6
NM_175069.2:c.725_728del NP_778239.1:p.His242LeufsTer6
NM_175073.2:c.683_686del NP_778243.1:p.His228LeufsTer6
NR_036576.1:n.757_760del
NR_036577.1:n.647_650del
NR_036578.1:n.779_782del
NR_036579.1:n.926_929del
XM_006716791.2:c.683_686del XP_006716854.1:p.His228LeufsTer6
XM_006716792.2:c.419_422del XP_006716855.1:p.His140LeufsTer6
XM_011517936.1:c.419_422del XP_011516238.1:p.His140LeufsTer6
XM_011517937.1:c.419_422del XP_011516239.1:p.His140LeufsTer6
XM_011517938.1:c.419_422del XP_011516240.1:p.His140LeufsTer6
XM_011517939.1:c.419_422del XP_011516241.1:p.His140LeufsTer6
XR_428423.2:n.622+1253_622+1256del
XR_929276.1:n.762_765del
XR_929277.1:n.762_765del
XR_929279.1:n.622+1253_622+1256del
XM_006716791.4:c.683_686del XP_006716854.1:p.His228LeufsTer6
XM_006716792.3:c.419_422del XP_006716855.1:p.His140LeufsTer6
XM_011517938.2:c.419_422del XP_011516240.1:p.His140LeufsTer6
XM_011517939.3:c.419_422del XP_011516241.1:p.His140LeufsTer6
XM_017014831.1:c.725_728del XP_016870320.1:p.His242LeufsTer6
XM_017014832.1:c.725_728del XP_016870321.1:p.His242LeufsTer6
XM_017014833.2:c.725_728del XP_016870322.1:p.His242LeufsTer6
XM_017014836.2:c.725_728del XP_016870325.1:p.His242LeufsTer6
XM_017014837.2:c.521_524del XP_016870326.1:p.His174LeufsTer6
XM_017014838.1:c.419_422del XP_016870327.1:p.His140LeufsTer6
XM_024447575.1:c.683_686del XP_024303343.1:p.His228LeufsTer6
XM_024447576.1:c.683_686del XP_024303344.1:p.His228LeufsTer6
XM_024447577.1:c.683_686del XP_024303345.1:p.His228LeufsTer6
XM_024447578.1:c.725_728del XP_024303346.1:p.His242LeufsTer6
XM_024447579.1:c.683_686del XP_024303347.1:p.His228LeufsTer6
XM_024447580.1:c.521_524del XP_024303348.1:p.His174LeufsTer6
XM_024447581.1:c.419_422del XP_024303349.1:p.His140LeufsTer6
XM_024447582.1:c.419_422del XP_024303350.1:p.His140LeufsTer6
XR_001746325.2:n.762_765del
XR_001746326.2:n.770_773del
XR_428423.3:n.622+1253_622+1256del
XR_929276.3:n.762_765del
XR_929277.3:n.762_765del
NM_001195248.2:c.683_686del MANE Select NP_001182177.2:p.His228LeufsTer6
NM_001195250.2:c.521_524del NP_001182179.2:p.His174LeufsTer6
NM_001195252.2:c.467_470del NP_001182181.2:p.His156LeufsTer6
NM_001368995.1:c.683_686del NP_001355924.1:p.His228LeufsTer6
NM_001368996.1:c.683_686del NP_001355925.1:p.His228LeufsTer6
NM_001368997.1:c.683_686del NP_001355926.1:p.His228LeufsTer6
NM_001368998.1:c.683_686del NP_001355927.1:p.His228LeufsTer6
NM_001368999.1:c.683_686del NP_001355928.1:p.His228LeufsTer6
NM_001369000.1:c.521_524del NP_001355929.1:p.His174LeufsTer6
NM_001369001.1:c.521_524del NP_001355930.1:p.His174LeufsTer6
NM_001369002.1:c.419_422del NP_001355931.1:p.His140LeufsTer6
NM_001369003.1:c.419_422del NP_001355932.1:p.His140LeufsTer6
NM_001369004.1:c.419_422del NP_001355933.1:p.His140LeufsTer6
NM_001369005.1:c.419_422del NP_001355934.1:p.His140LeufsTer6
NM_001369006.1:c.419_422del NP_001355935.1:p.His140LeufsTer6
NM_001370669.1:c.419_422del NP_001357598.1:p.His140LeufsTer6
NM_001370670.1:c.419_422del NP_001357599.1:p.His140LeufsTer6
NM_001370673.1:c.419_422del NP_001357602.1:p.His140LeufsTer6
NM_175069.3:c.683_686del NP_778239.2:p.His228LeufsTer6
NR_160920.1:n.609+1253_609+1256del
NR_160921.1:n.653_656del
NR_160922.1:n.884_887del
NR_160923.1:n.688_691del
NR_160924.1:n.693_696del
NR_160925.1:n.889_892del
NR_160926.1:n.679_682del
NR_160927.1:n.859+1253_859+1256del
NR_160928.1:n.749+1253_749+1256del
NR_160929.1:n.663+1253_663+1256del
NR_160930.1:n.629_632del
NR_160931.1:n.868_871del
NM_001195249.2:c.683_686del NP_001182178.1:p.His228LeufsTer6
NM_001195251.2:c.683_686del NP_001182180.1:p.His228LeufsTer6
NM_001195254.2:c.521_524del NP_001182183.1:p.His174LeufsTer6
NM_175073.3:c.683_686del NP_778243.1:p.His228LeufsTer6
NR_036577.2:n.634_637del