Canonical Allele Identifier: CA1844899130

Gene: APTX

Linked Data

• dbSNP Id: rs1830039377
• gnomAD v3: 9-32978783-G-GCTACAATTCTCCCTT
• gnomAD v4: 9-32978783-G-GCTACAATTCTCCCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32978784_32978798dup , CM000671.2:g.32978784_32978798dup	GRCh38
NC_000009.11:g.32978782_32978796dup , CM000671.1:g.32978782_32978796dup	GRCh37
NC_000009.10:g.32968782_32968796dup	NCBI36
NG_012821.1:g.27831_27845dup
NG_012821.2:g.51334_51348dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000309615.8:c.609-4237_609-4223dup	ENSP00000311547.4:n.609-4237_609-4223dup
ENST00000379817.7:c.771-4237_771-4223dup MANE Select	ENSP00000369145.2:n.771-4237_771-4223dup
ENST00000379819.6:c.771-4237_771-4223dup	ENSP00000369147.2:n.771-4237_771-4223dup
ENST00000379825.7:c.771-4237_771-4223dup	ENSP00000369153.3:n.771-4237_771-4223dup
ENST00000397172.8:c.555-4237_555-4223dup	ENSP00000380357.4:n.555-4237_555-4223dup
ENST00000436040.7:c.609-4237_609-4223dup	ENSP00000400806.4:n.609-4237_609-4223dup
ENST00000460940.6:c.*389-4237_*389-4223dup	ENSP00000418311.1:n.*389-4237_*389-4223dup
ENST00000463596.6:c.771-4237_771-4223dup	ENSP00000419846.1:n.771-4237_771-4223dup
ENST00000465003.6:c.*501-4237_*501-4223dup	ENSP00000419430.2:n.*501-4237_*501-4223dup
ENST00000467331.6:c.*616-4237_*616-4223dup	ENSP00000418733.1:n.*616-4237_*616-4223dup
ENST00000468275.6:c.771-4237_771-4223dup	ENSP00000420263.2:n.771-4237_771-4223dup
ENST00000472896.6:c.*565-4237_*565-4223dup	ENSP00000417804.2:n.*565-4237_*565-4223dup
ENST00000474658.7:c.*214-4237_*214-4223dup	ENSP00000417750.3:n.*214-4237_*214-4223dup
ENST00000476858.6:c.609-4237_609-4223dup	ENSP00000419042.2:n.609-4237_609-4223dup
ENST00000477119.2:c.654-4237_654-4223dup	ENSP00000417649.2:n.654-4237_654-4223dup
ENST00000479656.6:c.*616-4237_*616-4223dup	ENSP00000420071.1:n.*616-4237_*616-4223dup
ENST00000482687.6:c.*389-4237_*389-4223dup	ENSP00000419289.2:n.*389-4237_*389-4223dup
ENST00000483148.6:c.*398-4237_*398-4223dup	ENSP00000419723.1:n.*398-4237_*398-4223dup
ENST00000485479.6:c.*492-4237_*492-4223dup	ENSP00000418144.1:n.*492-4237_*492-4223dup
ENST00000495360.6:c.*514-4237_*514-4223dup	ENSP00000419623.2:n.*514-4237_*514-4223dup
ENST00000671774.1:n.763+1268_763+1282dup
ENST00000671912.1:c.280-4237_280-4223dup	ENSP00000500871.1:n.280-4237_280-4223dup
ENST00000672152.1:n.741-4237_741-4223dup
ENST00000672244.1:c.382-4237_382-4223dup	ENSP00000499875.1:n.382-4237_382-4223dup
ENST00000672281.1:n.968-4237_968-4223dup
ENST00000672286.1:n.1032-4237_1032-4223dup
ENST00000672438.1:c.507-4237_507-4223dup	ENSP00000499997.1:n.507-4237_507-4223dup
ENST00000672476.1:n.963-4237_963-4223dup
ENST00000672493.1:n.1310-4237_1310-4223dup
ENST00000672519.1:c.*388+7173_*388+7187dup	ENSP00000500320.1:n.*388+7173_*388+7187dup
ENST00000672535.1:c.*501-4237_*501-4223dup	ENSP00000499872.1:n.*501-4237_*501-4223dup
ENST00000672615.1:n.848-4237_848-4223dup
ENST00000672846.1:c.*501-4237_*501-4223dup	ENSP00000500396.1:n.*501-4237_*501-4223dup
ENST00000673171.1:n.621-4237_621-4223dup
ENST00000673211.1:n.853-4237_853-4223dup
ENST00000673248.1:c.507-4237_507-4223dup	ENSP00000500601.1:n.507-4237_507-4223dup
ENST00000673333.1:n.1049-4237_1049-4223dup
ENST00000673360.1:c.*214-4237_*214-4223dup	ENSP00000500360.1:n.*214-4237_*214-4223dup
ENST00000673416.1:c.507-4237_507-4223dup	ENSP00000500738.1:n.507-4237_507-4223dup
ENST00000673485.1:n.968-4237_968-4223dup
ENST00000673487.1:c.*501-4237_*501-4223dup	ENSP00000500943.1:n.*501-4237_*501-4223dup
ENST00000673598.1:c.249-4237_249-4223dup	ENSP00000499991.1:n.249-4237_249-4223dup
ENST00000309615.7:c.609-4237_609-4223dup	ENSP00000311547.4:n.609-4237_609-4223dup
ENST00000379813.7:c.753-4237_753-4223dup	ENSP00000369141.4:n.753-4237_753-4223dup
ENST00000379817.6:c.771-4237_771-4223dup	ENSP00000369145.2:n.771-4237_771-4223dup
ENST00000379819.5:c.813-4237_813-4223dup	ENSP00000369147.1:n.813-4237_813-4223dup
ENST00000379825.6:c.813-4237_813-4223dup	ENSP00000369153.2:n.813-4237_813-4223dup
ENST00000397172.7:c.597-4237_597-4223dup	ENSP00000380357.3:n.597-4237_597-4223dup
ENST00000436040.6:c.771-4237_771-4223dup	ENSP00000400806.3:n.771-4237_771-4223dup
ENST00000460940.5:c.*389-4237_*389-4223dup	ENSP00000418311.1:n.*389-4237_*389-4223dup
ENST00000463596.5:c.771-4237_771-4223dup	ENSP00000419846.1:n.771-4237_771-4223dup
ENST00000465003.5:c.*398-4237_*398-4223dup	ENSP00000419430.1:n.*398-4237_*398-4223dup
ENST00000467331.5:c.*616-4237_*616-4223dup	ENSP00000418733.1:n.*616-4237_*616-4223dup
ENST00000468275.5:c.771-4237_771-4223dup	ENSP00000420263.1:n.771-4237_771-4223dup
ENST00000472896.5:c.*274-4237_*274-4223dup	ENSP00000417804.1:n.*274-4237_*274-4223dup
ENST00000474658.6:c.438-4237_438-4223dup
ENST00000476858.5:c.651-4237_651-4223dup	ENSP00000419042.1:n.651-4237_651-4223dup
ENST00000479656.5:c.*616-4237_*616-4223dup	ENSP00000420071.1:n.*616-4237_*616-4223dup
ENST00000482687.5:c.544-4237_544-4223dup	ENSP00000419289.1:n.544-4237_544-4223dup
ENST00000483148.5:c.*171-4237_*171-4223dup	ENSP00000419723.1:n.*171-4237_*171-4223dup
ENST00000485479.5:c.*501-4237_*501-4223dup	ENSP00000418144.1:n.*501-4237_*501-4223dup
ENST00000494649.5:c.*616-4237_*616-4223dup	ENSP00000417634.1:n.*616-4237_*616-4223dup
ENST00000495360.5:c.*501-4237_*501-4223dup	ENSP00000419623.1:n.*501-4237_*501-4223dup
NM_001195248.1:c.813-4237_813-4223dup	NP_001182177.1:n.813-4237_813-4223dup
NM_001195249.1:c.771-4237_771-4223dup	NP_001182178.1:n.771-4237_771-4223dup
NM_001195250.1:c.651-4237_651-4223dup	NP_001182179.1:n.651-4237_651-4223dup
NM_001195251.1:c.771-4237_771-4223dup	NP_001182180.1:n.771-4237_771-4223dup
NM_001195252.1:c.597-4237_597-4223dup	NP_001182181.1:n.597-4237_597-4223dup
NM_001195254.1:c.609-4237_609-4223dup	NP_001182183.1:n.609-4237_609-4223dup
NM_175069.2:c.813-4237_813-4223dup	NP_778239.1:n.813-4237_813-4223dup
NM_175073.2:c.771-4237_771-4223dup	NP_778243.1:n.771-4237_771-4223dup
NR_036576.1:n.845-4237_845-4223dup
NR_036577.1:n.735-4237_735-4223dup
NR_036578.1:n.867-4237_867-4223dup
NR_036579.1:n.1014-4237_1014-4223dup
XM_006716791.2:c.771-4237_771-4223dup	XP_006716854.1:n.771-4237_771-4223dup
XM_006716792.2:c.507-4237_507-4223dup	XP_006716855.1:n.507-4237_507-4223dup
XM_011517936.1:c.507-4237_507-4223dup	XP_011516238.1:n.507-4237_507-4223dup
XM_011517937.1:c.507-4237_507-4223dup	XP_011516239.1:n.507-4237_507-4223dup
XM_011517938.1:c.507-4237_507-4223dup	XP_011516240.1:n.507-4237_507-4223dup
XM_011517939.1:c.507-4237_507-4223dup	XP_011516241.1:n.507-4237_507-4223dup
XR_428423.2:n.623-4237_623-4223dup
XR_929276.1:n.1221+1268_1221+1282dup
XR_929277.1:n.1244+1268_1244+1282dup
XR_929279.1:n.623-4237_623-4223dup
XM_006716791.4:c.771-4237_771-4223dup	XP_006716854.1:n.771-4237_771-4223dup
XM_006716792.3:c.507-4237_507-4223dup	XP_006716855.1:n.507-4237_507-4223dup
XM_011517938.2:c.507-4237_507-4223dup	XP_011516240.1:n.507-4237_507-4223dup
XM_011517939.3:c.507-4237_507-4223dup	XP_011516241.1:n.507-4237_507-4223dup
XM_017014831.1:c.812+5833_812+5847dup	XP_016870320.1:n.812+5833_812+5847dup
XM_017014832.1:c.812+5833_812+5847dup	XP_016870321.1:n.812+5833_812+5847dup
XM_017014833.2:c.812+5833_812+5847dup	XP_016870322.1:n.812+5833_812+5847dup
XM_017014836.2:c.812+5833_812+5847dup	XP_016870325.1:n.812+5833_812+5847dup
XM_017014837.2:c.609-4237_609-4223dup	XP_016870326.1:n.609-4237_609-4223dup
XM_017014838.1:c.507-4237_507-4223dup	XP_016870327.1:n.507-4237_507-4223dup
XM_024447575.1:c.771-4237_771-4223dup	XP_024303343.1:n.771-4237_771-4223dup
XM_024447576.1:c.771-4237_771-4223dup	XP_024303344.1:n.771-4237_771-4223dup
XM_024447577.1:c.771-4237_771-4223dup	XP_024303345.1:n.771-4237_771-4223dup
XM_024447578.1:c.812+5833_812+5847dup	XP_024303346.1:n.812+5833_812+5847dup
XM_024447579.1:c.771-4237_771-4223dup	XP_024303347.1:n.771-4237_771-4223dup
XM_024447580.1:c.609-4237_609-4223dup	XP_024303348.1:n.609-4237_609-4223dup
XM_024447581.1:c.507-4237_507-4223dup	XP_024303349.1:n.507-4237_507-4223dup
XM_024447582.1:c.507-4237_507-4223dup	XP_024303350.1:n.507-4237_507-4223dup
XR_001746325.2:n.1244+1268_1244+1282dup
XR_001746326.2:n.1229+1268_1229+1282dup
XR_428423.3:n.623-4237_623-4223dup
XR_929276.3:n.1221+1268_1221+1282dup
XR_929277.3:n.1244+1268_1244+1282dup
NM_001195248.2:c.771-4237_771-4223dup MANE Select	NP_001182177.2:n.771-4237_771-4223dup
NM_001195250.2:c.609-4237_609-4223dup	NP_001182179.2:n.609-4237_609-4223dup
NM_001195252.2:c.555-4237_555-4223dup	NP_001182181.2:n.555-4237_555-4223dup
NM_001368995.1:c.771-4237_771-4223dup	NP_001355924.1:n.771-4237_771-4223dup
NM_001368996.1:c.771-4237_771-4223dup	NP_001355925.1:n.771-4237_771-4223dup
NM_001368997.1:c.771-4237_771-4223dup	NP_001355926.1:n.771-4237_771-4223dup
NM_001368998.1:c.771-4237_771-4223dup	NP_001355927.1:n.771-4237_771-4223dup
NM_001368999.1:c.771-4237_771-4223dup	NP_001355928.1:n.771-4237_771-4223dup
NM_001369000.1:c.609-4237_609-4223dup	NP_001355929.1:n.609-4237_609-4223dup
NM_001369001.1:c.609-4237_609-4223dup	NP_001355930.1:n.609-4237_609-4223dup
NM_001369002.1:c.507-4237_507-4223dup	NP_001355931.1:n.507-4237_507-4223dup
NM_001369003.1:c.507-4237_507-4223dup	NP_001355932.1:n.507-4237_507-4223dup
NM_001369004.1:c.507-4237_507-4223dup	NP_001355933.1:n.507-4237_507-4223dup
NM_001369005.1:c.507-4237_507-4223dup	NP_001355934.1:n.507-4237_507-4223dup
NM_001369006.1:c.507-4237_507-4223dup	NP_001355935.1:n.507-4237_507-4223dup
NM_001370669.1:c.507-4237_507-4223dup	NP_001357598.1:n.507-4237_507-4223dup
NM_001370670.1:c.507-4237_507-4223dup	NP_001357599.1:n.507-4237_507-4223dup
NM_001370673.1:c.507-4237_507-4223dup	NP_001357602.1:n.507-4237_507-4223dup
NM_175069.3:c.771-4237_771-4223dup	NP_778239.2:n.771-4237_771-4223dup
NR_160920.1:n.610-4237_610-4223dup
NR_160921.1:n.741-4237_741-4223dup
NR_160922.1:n.972-4237_972-4223dup
NR_160923.1:n.776-4237_776-4223dup
NR_160924.1:n.781-4237_781-4223dup
NR_160925.1:n.977-4237_977-4223dup
NR_160926.1:n.767-4237_767-4223dup
NR_160927.1:n.860-4237_860-4223dup
NR_160928.1:n.750-4237_750-4223dup
NR_160929.1:n.664-4237_664-4223dup
NR_160930.1:n.717-4237_717-4223dup
NR_160931.1:n.956-4237_956-4223dup
NM_001195249.2:c.771-4237_771-4223dup	NP_001182178.1:n.771-4237_771-4223dup
NM_001195251.2:c.771-4237_771-4223dup	NP_001182180.1:n.771-4237_771-4223dup
NM_001195254.2:c.609-4237_609-4223dup	NP_001182183.1:n.609-4237_609-4223dup
NM_175073.3:c.771-4237_771-4223dup	NP_778243.1:n.771-4237_771-4223dup
NR_036577.2:n.722-4237_722-4223dup