Canonical Allele Identifier: CA2689694317
Gene: APTX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.32984639_32984640insCTTAATCATTCT , CM000671.2:g.32984639_32984640insCTTAATCATTCT GRCh38
NC_000009.11:g.32984637_32984638insCTTAATCATTCT , CM000671.1:g.32984637_32984638insCTTAATCATTCT GRCh37
NC_000009.10:g.32974637_32974638insCTTAATCATTCT NCBI36
NG_012821.1:g.21989_21990insAGAATGATTAAG
NG_012821.2:g.45492_45493insAGAATGATTAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000309615.8:c.599_600insAGAATGATTAAG ENSP00000311547.4:p.Pro201GlufsTer2
ENST00000379817.7:c.761_762insAGAATGATTAAG MANE Select ENSP00000369145.2:p.Pro255GlufsTer2
ENST00000379819.6:c.761_762insAGAATGATTAAG ENSP00000369147.2:p.Pro255GlufsTer2
ENST00000379825.7:c.761_762insAGAATGATTAAG ENSP00000369153.3:p.Pro255GlufsTer2
ENST00000397172.8:c.545_546insAGAATGATTAAG ENSP00000380357.4:p.Pro183GlufsTer2
ENST00000436040.7:c.599_600insAGAATGATTAAG ENSP00000400806.4:p.Pro201GlufsTer2
ENST00000460940.6:c.*388+1331_*388+1332insAGAATGATTAAG ENSP00000418311.1:n.*388+1331_*388+1332insAGAATGATTAAG
ENST00000463596.6:c.761_762insAGAATGATTAAG ENSP00000419846.1:p.Pro255GlufsTer2
ENST00000465003.6:c.*491_*492insAGAATGATTAAG ENSP00000419430.2:n.*491_*492insAGAATGATTAAG
ENST00000467331.6:c.*606_*607insAGAATGATTAAG ENSP00000418733.1:n.*606_*607insAGAATGATTAAG
ENST00000468275.6:c.761_762insAGAATGATTAAG ENSP00000420263.2:p.Pro255GlufsTer2
ENST00000472896.6:c.*555_*556insAGAATGATTAAG ENSP00000417804.2:n.*555_*556insAGAATGATTAAG
ENST00000474658.7:c.*204_*205insAGAATGATTAAG ENSP00000417750.3:n.*204_*205insAGAATGATTAAG
ENST00000476858.6:c.599_600insAGAATGATTAAG ENSP00000419042.2:p.Pro201GlufsTer2
ENST00000477119.2:c.644_645insAGAATGATTAAG ENSP00000417649.2:p.Pro216GlufsTer2
ENST00000479656.6:c.*606_*607insAGAATGATTAAG ENSP00000420071.1:n.*606_*607insAGAATGATTAAG
ENST00000482687.6:c.*388+1331_*388+1332insAGAATGATTAAG ENSP00000419289.2:n.*388+1331_*388+1332insAGAATGATTAAG
ENST00000483148.6:c.*388_*389insAGAATGATTAAG ENSP00000419723.1:n.*388_*389insAGAATGATTAAG
ENST00000485479.6:c.*482_*483insAGAATGATTAAG ENSP00000418144.1:n.*482_*483insAGAATGATTAAG
ENST00000495360.6:c.*504_*505insAGAATGATTAAG ENSP00000419623.2:n.*504_*505insAGAATGATTAAG
ENST00000671774.1:n.359_360insAGAATGATTAAG
ENST00000671912.1:c.279+1331_279+1332insAGAATGATTAAG ENSP00000500871.1:n.279+1331_279+1332insAGAATGATTAAG
ENST00000672152.1:n.740+1331_740+1332insAGAATGATTAAG
ENST00000672244.1:c.381+1331_381+1332insAGAATGATTAAG ENSP00000499875.1:n.381+1331_381+1332insAGAATGATTAAG
ENST00000672281.1:n.958_959insAGAATGATTAAG
ENST00000672286.1:n.1022_1023insAGAATGATTAAG
ENST00000672438.1:c.497_498insAGAATGATTAAG ENSP00000499997.1:p.Pro167GlufsTer2
ENST00000672476.1:n.953_954insAGAATGATTAAG
ENST00000672493.1:n.1300_1301insAGAATGATTAAG
ENST00000672519.1:c.*388+1331_*388+1332insAGAATGATTAAG ENSP00000500320.1:n.*388+1331_*388+1332insAGAATGATTAAG
ENST00000672535.1:c.*491_*492insAGAATGATTAAG ENSP00000499872.1:n.*491_*492insAGAATGATTAAG
ENST00000672615.1:n.838_839insAGAATGATTAAG
ENST00000672846.1:c.*491_*492insAGAATGATTAAG ENSP00000500396.1:n.*491_*492insAGAATGATTAAG
ENST00000673114.1:n.625_626insAGAATGATTAAG
ENST00000673171.1:n.620+1331_620+1332insAGAATGATTAAG
ENST00000673211.1:n.843_844insAGAATGATTAAG
ENST00000673248.1:c.497_498insAGAATGATTAAG ENSP00000500601.1:p.Pro167GlufsTer2
ENST00000673333.1:n.1039_1040insAGAATGATTAAG
ENST00000673360.1:c.*204_*205insAGAATGATTAAG ENSP00000500360.1:n.*204_*205insAGAATGATTAAG
ENST00000673416.1:c.497_498insAGAATGATTAAG ENSP00000500738.1:p.Pro167GlufsTer2
ENST00000673485.1:n.958_959insAGAATGATTAAG
ENST00000673487.1:c.*491_*492insAGAATGATTAAG ENSP00000500943.1:n.*491_*492insAGAATGATTAAG
ENST00000673598.1:c.239_240insAGAATGATTAAG ENSP00000499991.1:p.Pro81GlufsTer2
ENST00000309615.7:c.599_600insAGAATGATTAAG ENSP00000311547.4:p.Pro201GlufsTer2
ENST00000379812.9:c.587_588insAGAATGATTAAG ENSP00000369140.5:p.Pro197GlufsTer2
ENST00000379813.7:c.743_744insAGAATGATTAAG ENSP00000369141.4:p.Pro249GlufsTer2
ENST00000379817.6:c.761_762insAGAATGATTAAG ENSP00000369145.2:p.Pro255GlufsTer2
ENST00000379819.5:c.803_804insAGAATGATTAAG ENSP00000369147.1:p.Pro269GlufsTer2
ENST00000379825.6:c.803_804insAGAATGATTAAG ENSP00000369153.2:p.Pro269GlufsTer2
ENST00000397172.7:c.587_588insAGAATGATTAAG ENSP00000380357.3:p.Pro197GlufsTer2
ENST00000436040.6:c.761_762insAGAATGATTAAG ENSP00000400806.3:p.Pro255GlufsTer2
ENST00000460940.5:c.*388+1331_*388+1332insAGAATGATTAAG ENSP00000418311.1:n.*388+1331_*388+1332insAGAATGATTAAG
ENST00000463596.5:c.761_762insAGAATGATTAAG ENSP00000419846.1:p.Pro255GlufsTer2
ENST00000465003.5:c.*388_*389insAGAATGATTAAG ENSP00000419430.1:n.*388_*389insAGAATGATTAAG
ENST00000467331.5:c.*606_*607insAGAATGATTAAG ENSP00000418733.1:n.*606_*607insAGAATGATTAAG
ENST00000468275.5:c.761_762insAGAATGATTAAG ENSP00000420263.1:p.Pro255GlufsTer2
ENST00000472896.5:c.*273+1331_*273+1332insAGAATGATTAAG ENSP00000417804.1:n.*273+1331_*273+1332insAGAATGATTAAG
ENST00000473221.5:c.641_642insAGAATGATTAAG ENSP00000419020.1:p.Pro215GlufsTer2
ENST00000474658.6:c.428_429insAGAATGATTAAG
ENST00000476858.5:c.641_642insAGAATGATTAAG ENSP00000419042.1:p.Pro215GlufsTer2
ENST00000479656.5:c.*606_*607insAGAATGATTAAG ENSP00000420071.1:n.*606_*607insAGAATGATTAAG
ENST00000482687.5:c.543+1331_543+1332insAGAATGATTAAG ENSP00000419289.1:n.543+1331_543+1332insAGAATGATTAAG
ENST00000483148.5:c.*170+1331_*170+1332insAGAATGATTAAG ENSP00000419723.1:n.*170+1331_*170+1332insAGAATGATTAAG
ENST00000485479.5:c.*491_*492insAGAATGATTAAG ENSP00000418144.1:n.*491_*492insAGAATGATTAAG
ENST00000486724.5:n.497_498insAGAATGATTAAG
ENST00000494649.5:c.*606_*607insAGAATGATTAAG ENSP00000417634.1:n.*606_*607insAGAATGATTAAG
ENST00000495360.5:c.*491_*492insAGAATGATTAAG ENSP00000419623.1:n.*491_*492insAGAATGATTAAG
NM_001195248.1:c.803_804insAGAATGATTAAG NP_001182177.1:p.Pro269GlufsTer2
NM_001195249.1:c.761_762insAGAATGATTAAG NP_001182178.1:p.Pro255GlufsTer2
NM_001195250.1:c.641_642insAGAATGATTAAG NP_001182179.1:p.Pro215GlufsTer2
NM_001195251.1:c.761_762insAGAATGATTAAG NP_001182180.1:p.Pro255GlufsTer2
NM_001195252.1:c.587_588insAGAATGATTAAG NP_001182181.1:p.Pro197GlufsTer2
NM_001195254.1:c.599_600insAGAATGATTAAG NP_001182183.1:p.Pro201GlufsTer2
NM_175069.2:c.803_804insAGAATGATTAAG NP_778239.1:p.Pro269GlufsTer2
NM_175073.2:c.761_762insAGAATGATTAAG NP_778243.1:p.Pro255GlufsTer2
NR_036576.1:n.835_836insAGAATGATTAAG
NR_036577.1:n.725_726insAGAATGATTAAG
NR_036578.1:n.857_858insAGAATGATTAAG
NR_036579.1:n.1004_1005insAGAATGATTAAG
XM_006716791.2:c.761_762insAGAATGATTAAG XP_006716854.1:p.Pro255GlufsTer2
XM_006716792.2:c.497_498insAGAATGATTAAG XP_006716855.1:p.Pro167GlufsTer2
XM_011517936.1:c.497_498insAGAATGATTAAG XP_011516238.1:p.Pro167GlufsTer2
XM_011517937.1:c.497_498insAGAATGATTAAG XP_011516239.1:p.Pro167GlufsTer2
XM_011517938.1:c.497_498insAGAATGATTAAG XP_011516240.1:p.Pro167GlufsTer2
XM_011517939.1:c.497_498insAGAATGATTAAG XP_011516241.1:p.Pro167GlufsTer2
XR_428423.2:n.622+1331_622+1332insAGAATGATTAAG
XR_929276.1:n.840_841insAGAATGATTAAG
XR_929277.1:n.840_841insAGAATGATTAAG
XR_929279.1:n.622+1331_622+1332insAGAATGATTAAG
XM_006716791.4:c.761_762insAGAATGATTAAG XP_006716854.1:p.Pro255GlufsTer2
XM_006716792.3:c.497_498insAGAATGATTAAG XP_006716855.1:p.Pro167GlufsTer2
XM_011517938.2:c.497_498insAGAATGATTAAG XP_011516240.1:p.Pro167GlufsTer2
XM_011517939.3:c.497_498insAGAATGATTAAG XP_011516241.1:p.Pro167GlufsTer2
XM_017014831.1:c.803_804insAGAATGATTAAG XP_016870320.1:p.Pro269GlufsTer2
XM_017014832.1:c.803_804insAGAATGATTAAG XP_016870321.1:p.Pro269GlufsTer2
XM_017014833.2:c.803_804insAGAATGATTAAG XP_016870322.1:p.Pro269GlufsTer2
XM_017014836.2:c.803_804insAGAATGATTAAG XP_016870325.1:p.Pro269GlufsTer2
XM_017014837.2:c.599_600insAGAATGATTAAG XP_016870326.1:p.Pro201GlufsTer2
XM_017014838.1:c.497_498insAGAATGATTAAG XP_016870327.1:p.Pro167GlufsTer2
XM_024447575.1:c.761_762insAGAATGATTAAG XP_024303343.1:p.Pro255GlufsTer2
XM_024447576.1:c.761_762insAGAATGATTAAG XP_024303344.1:p.Pro255GlufsTer2
XM_024447577.1:c.761_762insAGAATGATTAAG XP_024303345.1:p.Pro255GlufsTer2
XM_024447578.1:c.803_804insAGAATGATTAAG XP_024303346.1:p.Pro269GlufsTer2
XM_024447579.1:c.761_762insAGAATGATTAAG XP_024303347.1:p.Pro255GlufsTer2
XM_024447580.1:c.599_600insAGAATGATTAAG XP_024303348.1:p.Pro201GlufsTer2
XM_024447581.1:c.497_498insAGAATGATTAAG XP_024303349.1:p.Pro167GlufsTer2
XM_024447582.1:c.497_498insAGAATGATTAAG XP_024303350.1:p.Pro167GlufsTer2
XR_001746325.2:n.840_841insAGAATGATTAAG
XR_001746326.2:n.848_849insAGAATGATTAAG
XR_428423.3:n.622+1331_622+1332insAGAATGATTAAG
XR_929276.3:n.840_841insAGAATGATTAAG
XR_929277.3:n.840_841insAGAATGATTAAG
NM_001195248.2:c.761_762insAGAATGATTAAG MANE Select NP_001182177.2:p.Pro255GlufsTer2
NM_001195250.2:c.599_600insAGAATGATTAAG NP_001182179.2:p.Pro201GlufsTer2
NM_001195252.2:c.545_546insAGAATGATTAAG NP_001182181.2:p.Pro183GlufsTer2
NM_001368995.1:c.761_762insAGAATGATTAAG NP_001355924.1:p.Pro255GlufsTer2
NM_001368996.1:c.761_762insAGAATGATTAAG NP_001355925.1:p.Pro255GlufsTer2
NM_001368997.1:c.761_762insAGAATGATTAAG NP_001355926.1:p.Pro255GlufsTer2
NM_001368998.1:c.761_762insAGAATGATTAAG NP_001355927.1:p.Pro255GlufsTer2
NM_001368999.1:c.761_762insAGAATGATTAAG NP_001355928.1:p.Pro255GlufsTer2
NM_001369000.1:c.599_600insAGAATGATTAAG NP_001355929.1:p.Pro201GlufsTer2
NM_001369001.1:c.599_600insAGAATGATTAAG NP_001355930.1:p.Pro201GlufsTer2
NM_001369002.1:c.497_498insAGAATGATTAAG NP_001355931.1:p.Pro167GlufsTer2
NM_001369003.1:c.497_498insAGAATGATTAAG NP_001355932.1:p.Pro167GlufsTer2
NM_001369004.1:c.497_498insAGAATGATTAAG NP_001355933.1:p.Pro167GlufsTer2
NM_001369005.1:c.497_498insAGAATGATTAAG NP_001355934.1:p.Pro167GlufsTer2
NM_001369006.1:c.497_498insAGAATGATTAAG NP_001355935.1:p.Pro167GlufsTer2
NM_001370669.1:c.497_498insAGAATGATTAAG NP_001357598.1:p.Pro167GlufsTer2
NM_001370670.1:c.497_498insAGAATGATTAAG NP_001357599.1:p.Pro167GlufsTer2
NM_001370673.1:c.497_498insAGAATGATTAAG NP_001357602.1:p.Pro167GlufsTer2
NM_175069.3:c.761_762insAGAATGATTAAG NP_778239.2:p.Pro255GlufsTer2
NR_160920.1:n.609+1331_609+1332insAGAATGATTAAG
NR_160921.1:n.731_732insAGAATGATTAAG
NR_160922.1:n.962_963insAGAATGATTAAG
NR_160923.1:n.766_767insAGAATGATTAAG
NR_160924.1:n.771_772insAGAATGATTAAG
NR_160925.1:n.967_968insAGAATGATTAAG
NR_160926.1:n.757_758insAGAATGATTAAG
NR_160927.1:n.859+1331_859+1332insAGAATGATTAAG
NR_160928.1:n.749+1331_749+1332insAGAATGATTAAG
NR_160929.1:n.663+1331_663+1332insAGAATGATTAAG
NR_160930.1:n.707_708insAGAATGATTAAG
NR_160931.1:n.946_947insAGAATGATTAAG
NM_001195249.2:c.761_762insAGAATGATTAAG NP_001182178.1:p.Pro255GlufsTer2
NM_001195251.2:c.761_762insAGAATGATTAAG NP_001182180.1:p.Pro255GlufsTer2
NM_001195254.2:c.599_600insAGAATGATTAAG NP_001182183.1:p.Pro201GlufsTer2
NM_175073.3:c.761_762insAGAATGATTAAG NP_778243.1:p.Pro255GlufsTer2
NR_036577.2:n.712_713insAGAATGATTAAG