Canonical Allele Identifier: CA253145

Gene: APTX

Linked Data

• ClinVar Variation Id: 4427
• ClinVar RCV Id: RCV000004677
• dbSNP Id: rs587776594
• gnomAD v4: 9-32974490-GA-G
• MyVariant Identifiers: chr9:g.32974490del (hg19) ; chr9:g.32974492del (hg38)
• PubMed: PMID:11586299

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32974492del , CM000671.2:g.32974492del	GRCh38
NC_000009.11:g.32974490del , CM000671.1:g.32974490del	GRCh37
NC_000009.10:g.32964490del	NCBI36
NG_012821.1:g.32138del
NG_012821.2:g.55641del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309615.8:c.679del	ENSP00000311547.4:p.Ser227LeufsTer8
ENST00000379817.7:c.841del MANE Select	ENSP00000369145.2:p.Ser281LeufsTer8
ENST00000379819.6:c.841del	ENSP00000369147.2:p.Ser281LeufsTer8
ENST00000379825.7:c.841del	ENSP00000369153.3:p.Ser281LeufsTer8
ENST00000397172.8:c.625del	ENSP00000380357.4:p.Ser209LeufsTer8
ENST00000436040.7:c.679del	ENSP00000400806.4:p.Ser227LeufsTer8
ENST00000460940.6:c.*459del	ENSP00000418311.1:n.*459del
ENST00000463596.6:c.841del	ENSP00000419846.1:p.Ser281LeufsTer8
ENST00000465003.6:c.*571del	ENSP00000419430.2:n.*571del
ENST00000467331.6:c.*686del	ENSP00000418733.1:n.*686del
ENST00000468275.6:c.841del	ENSP00000420263.2:p.Ser281LeufsTer8
ENST00000472896.6:c.*635del	ENSP00000417804.2:n.*635del
ENST00000474658.7:c.*284del	ENSP00000417750.3:n.*284del
ENST00000476858.6:c.679del	ENSP00000419042.2:p.Ser227LeufsTer8
ENST00000477119.2:c.724del	ENSP00000417649.2:p.Ser242LeufsTer8
ENST00000479656.6:c.*686del	ENSP00000420071.1:n.*686del
ENST00000482687.6:c.*459del	ENSP00000419289.2:n.*459del
ENST00000483148.6:c.*468del	ENSP00000419723.1:n.*468del
ENST00000485479.6:c.*562del	ENSP00000418144.1:n.*562del
ENST00000495360.6:c.*584del	ENSP00000419623.2:n.*584del
ENST00000671774.1:n.834del
ENST00000671912.1:c.*35del	ENSP00000500871.1:n.*35del
ENST00000672152.1:n.811del
ENST00000672244.1:c.*35del	ENSP00000499875.1:n.*35del
ENST00000672281.1:n.1038del
ENST00000672286.1:n.1102del
ENST00000672438.1:c.577del	ENSP00000499997.1:p.Ser193LeufsTer8
ENST00000672476.1:n.1033del
ENST00000672493.1:n.1380del
ENST00000672519.1:c.*388+11480del	ENSP00000500320.1:n.*388+11480del
ENST00000672535.1:c.*571del	ENSP00000499872.1:n.*571del
ENST00000672615.1:n.918del
ENST00000672846.1:c.*571del	ENSP00000500396.1:n.*571del
ENST00000673171.1:n.691del
ENST00000673181.1:n.1411del
ENST00000673211.1:n.923del
ENST00000673248.1:c.577del	ENSP00000500601.1:p.Ser193LeufsTer8
ENST00000673333.1:n.1119del
ENST00000673360.1:c.*284del	ENSP00000500360.1:n.*284del
ENST00000673416.1:c.577del	ENSP00000500738.1:p.Ser193LeufsTer8
ENST00000673485.1:n.1038del
ENST00000673487.1:c.*571del	ENSP00000500943.1:n.*571del
ENST00000673598.1:c.319del	ENSP00000499991.1:p.Ser107LeufsTer8
ENST00000309615.7:c.679del	ENSP00000311547.4:p.Ser227LeufsTer8
ENST00000379813.7:c.823del	ENSP00000369141.4:p.Ser275LeufsTer8
ENST00000379817.6:c.841del	ENSP00000369145.2:p.Ser281LeufsTer8
ENST00000379819.5:c.883del	ENSP00000369147.1:p.Ser295LeufsTer8
ENST00000379825.6:c.883del	ENSP00000369153.2:p.Ser295LeufsTer8
ENST00000397172.7:c.667del	ENSP00000380357.3:p.Ser223LeufsTer8
ENST00000436040.6:c.841del	ENSP00000400806.3:p.Ser281LeufsTer8
ENST00000460940.5:c.*459del	ENSP00000418311.1:n.*459del
ENST00000463596.5:c.841del	ENSP00000419846.1:p.Ser281LeufsTer8
ENST00000465003.5:c.*468del	ENSP00000419430.1:n.*468del
ENST00000467331.5:c.*686del	ENSP00000418733.1:n.*686del
ENST00000468275.5:c.841del	ENSP00000420263.1:p.Ser281LeufsTer8
ENST00000472896.5:c.*344del	ENSP00000417804.1:n.*344del
ENST00000474658.6:c.508del
ENST00000476858.5:c.721del	ENSP00000419042.1:p.Ser241LeufsTer8
ENST00000479656.5:c.*686del	ENSP00000420071.1:n.*686del
ENST00000482687.5:c.*35del	ENSP00000419289.1:n.*35del
ENST00000483148.5:c.*241del	ENSP00000419723.1:n.*241del
ENST00000485479.5:c.*571del	ENSP00000418144.1:n.*571del
ENST00000494649.5:c.*686del	ENSP00000417634.1:n.*686del
ENST00000495360.5:c.*571del	ENSP00000419623.1:n.*571del
NM_001195248.1:c.883del	NP_001182177.1:p.Ser295LeufsTer8
NM_001195249.1:c.841del	NP_001182178.1:p.Ser281LeufsTer8
NM_001195250.1:c.721del	NP_001182179.1:p.Ser241LeufsTer8
NM_001195251.1:c.841del	NP_001182180.1:p.Ser281LeufsTer8
NM_001195252.1:c.667del	NP_001182181.1:p.Ser223LeufsTer8
NM_001195254.1:c.679del	NP_001182183.1:p.Ser227LeufsTer8
NM_175069.2:c.883del	NP_778239.1:p.Ser295LeufsTer8
NM_175073.2:c.841del	NP_778243.1:p.Ser281LeufsTer8
NR_036576.1:n.915del
NR_036577.1:n.805del
NR_036578.1:n.937del
NR_036579.1:n.1084del
XM_006716791.2:c.841del	XP_006716854.1:p.Ser281LeufsTer8
XM_006716792.2:c.577del	XP_006716855.1:p.Ser193LeufsTer8
XM_011517936.1:c.577del	XP_011516238.1:p.Ser193LeufsTer8
XM_011517937.1:c.577del	XP_011516239.1:p.Ser193LeufsTer8
XM_011517938.1:c.577del	XP_011516240.1:p.Ser193LeufsTer8
XM_011517939.1:c.577del	XP_011516241.1:p.Ser193LeufsTer8
XR_428423.2:n.693del
XR_929276.1:n.1292del
XR_929277.1:n.1315del
XR_929279.1:n.693del
XM_006716791.4:c.841del	XP_006716854.1:p.Ser281LeufsTer8
XM_006716792.3:c.577del	XP_006716855.1:p.Ser193LeufsTer8
XM_011517938.2:c.577del	XP_011516240.1:p.Ser193LeufsTer8
XM_011517939.3:c.577del	XP_011516241.1:p.Ser193LeufsTer8
XM_017014831.1:c.813-7718del	XP_016870320.1:n.813-7718del
XM_017014832.1:c.813-7718del	XP_016870321.1:n.813-7718del
XM_017014833.2:c.813-7718del	XP_016870322.1:n.813-7718del
XM_017014836.2:c.813-7718del	XP_016870325.1:n.813-7718del
XM_017014837.2:c.679del	XP_016870326.1:p.Ser227LeufsTer8
XM_017014838.1:c.577del	XP_016870327.1:p.Ser193LeufsTer8
XM_024447575.1:c.841del	XP_024303343.1:p.Ser281LeufsTer8
XM_024447576.1:c.841del	XP_024303344.1:p.Ser281LeufsTer8
XM_024447577.1:c.841del	XP_024303345.1:p.Ser281LeufsTer8
XM_024447578.1:c.813-7718del	XP_024303346.1:n.813-7718del
XM_024447579.1:c.841del	XP_024303347.1:p.Ser281LeufsTer8
XM_024447580.1:c.679del	XP_024303348.1:p.Ser227LeufsTer8
XM_024447581.1:c.577del	XP_024303349.1:p.Ser193LeufsTer8
XM_024447582.1:c.577del	XP_024303350.1:p.Ser193LeufsTer8
XR_001746325.2:n.1315del
XR_001746326.2:n.1300del
XR_428423.3:n.693del
XR_929276.3:n.1292del
XR_929277.3:n.1315del
NM_001195248.2:c.841del MANE Select	NP_001182177.2:p.Ser281LeufsTer8
NM_001195250.2:c.679del	NP_001182179.2:p.Ser227LeufsTer8
NM_001195252.2:c.625del	NP_001182181.2:p.Ser209LeufsTer8
NM_001368995.1:c.841del	NP_001355924.1:p.Ser281LeufsTer8
NM_001368996.1:c.841del	NP_001355925.1:p.Ser281LeufsTer8
NM_001368997.1:c.841del	NP_001355926.1:p.Ser281LeufsTer8
NM_001368998.1:c.841del	NP_001355927.1:p.Ser281LeufsTer8
NM_001368999.1:c.841del	NP_001355928.1:p.Ser281LeufsTer8
NM_001369000.1:c.679del	NP_001355929.1:p.Ser227LeufsTer8
NM_001369001.1:c.679del	NP_001355930.1:p.Ser227LeufsTer8
NM_001369002.1:c.577del	NP_001355931.1:p.Ser193LeufsTer8
NM_001369003.1:c.577del	NP_001355932.1:p.Ser193LeufsTer8
NM_001369004.1:c.577del	NP_001355933.1:p.Ser193LeufsTer8
NM_001369005.1:c.577del	NP_001355934.1:p.Ser193LeufsTer8
NM_001369006.1:c.577del	NP_001355935.1:p.Ser193LeufsTer8
NM_001370669.1:c.577del	NP_001357598.1:p.Ser193LeufsTer8
NM_001370670.1:c.577del	NP_001357599.1:p.Ser193LeufsTer8
NM_001370673.1:c.577del	NP_001357602.1:p.Ser193LeufsTer8
NM_175069.3:c.841del	NP_778239.2:p.Ser281LeufsTer8
NR_160920.1:n.680del
NR_160921.1:n.811del
NR_160922.1:n.1042del
NR_160923.1:n.846del
NR_160924.1:n.851del
NR_160925.1:n.1047del
NR_160926.1:n.837del
NR_160927.1:n.930del
NR_160928.1:n.820del
NR_160929.1:n.734del
NR_160930.1:n.787del
NR_160931.1:n.1026del
NM_001195249.2:c.841del	NP_001182178.1:p.Ser281LeufsTer8
NM_001195251.2:c.841del	NP_001182180.1:p.Ser281LeufsTer8
NM_001195254.2:c.679del	NP_001182183.1:p.Ser227LeufsTer8
NM_175073.3:c.841del	NP_778243.1:p.Ser281LeufsTer8
NR_036577.2:n.792del