Canonical Allele Identifier: CA5022404

Gene: APTX

Linked Data

• ClinVar Variation Id: 518398
• ClinVar RCV Id: RCV000601113 ; RCV000728518 ; RCV000676809
• dbSNP Id: rs778542759
• ExAC: 9:32986031 AAAAAAAAAACAAAAAAAAAAAC / A
• gnomAD v2: 9-32986031-AAAAAAAAAACAAAAAAAAAAAC-A
• gnomAD v3: 9-32986033-AAAAAAAAAACAAAAAAAAAAAC-A
• gnomAD v4: 9-32986033-AAAAAAAAAACAAAAAAAAAAAC-A
• MyVariant Identifiers: chr9:g.32986032_32986053del (hg19) ; chr9:g.32986034_32986055del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.32986043_32986064del , CM000671.2:g.32986043_32986064del	GRCh38
NC_000009.11:g.32986041_32986062del , CM000671.1:g.32986041_32986062del	GRCh37
NC_000009.10:g.32976041_32976062del	NCBI36
NG_012821.1:g.20574_20595del
NG_012821.2:g.44077_44098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309615.8:c.322-25_322-4del	ENSP00000311547.4:n.322-25_322-4del
ENST00000379817.7:c.484-25_484-4del MANE Select	ENSP00000369145.2:n.484-25_484-4del
ENST00000379819.6:c.484-25_484-4del	ENSP00000369147.2:n.484-25_484-4del
ENST00000379825.7:c.484-25_484-4del	ENSP00000369153.3:n.484-25_484-4del
ENST00000397172.8:c.268-25_268-4del	ENSP00000380357.4:n.268-25_268-4del
ENST00000436040.7:c.322-25_322-4del	ENSP00000400806.4:n.322-25_322-4del
ENST00000460940.6:c.*329-25_*329-4del	ENSP00000418311.1:n.*329-25_*329-4del
ENST00000460945.6:n.658-25_658-4del
ENST00000463596.6:c.484-25_484-4del	ENSP00000419846.1:n.484-25_484-4del
ENST00000464632.6:c.*214-25_*214-4del	ENSP00000418069.2:n.*214-25_*214-4del
ENST00000465003.6:c.*214-25_*214-4del	ENSP00000419430.2:n.*214-25_*214-4del
ENST00000467331.6:c.*329-25_*329-4del	ENSP00000418733.1:n.*329-25_*329-4del
ENST00000468275.6:c.484-25_484-4del	ENSP00000420263.2:n.484-25_484-4del
ENST00000472896.6:c.*278-25_*278-4del	ENSP00000417804.2:n.*278-25_*278-4del
ENST00000474658.7:c.134-25_134-4del	ENSP00000417750.3:n.134-25_134-4del
ENST00000476858.6:c.322-25_322-4del	ENSP00000419042.2:n.322-25_322-4del
ENST00000477119.2:c.367-25_367-4del	ENSP00000417649.2:n.367-25_367-4del
ENST00000478279.6:c.*111-25_*111-4del	ENSP00000419597.2:n.*111-25_*111-4del
ENST00000479656.6:c.*329-25_*329-4del	ENSP00000420071.1:n.*329-25_*329-4del
ENST00000480031.6:c.*278-25_*278-4del	ENSP00000417684.1:n.*278-25_*278-4del
ENST00000482687.6:c.*329-25_*329-4del	ENSP00000419289.2:n.*329-25_*329-4del
ENST00000483148.6:c.*111-25_*111-4del	ENSP00000419723.1:n.*111-25_*111-4del
ENST00000485479.6:c.*205-25_*205-4del	ENSP00000418144.1:n.*205-25_*205-4del
ENST00000495360.6:c.*227-25_*227-4del	ENSP00000419623.2:n.*227-25_*227-4del
ENST00000496030.2:n.934-25_934-4del
ENST00000671774.1:n.82-25_82-4del
ENST00000671912.1:c.220-25_220-4del	ENSP00000500871.1:n.220-25_220-4del
ENST00000672152.1:n.681-25_681-4del
ENST00000672244.1:c.322-25_322-4del	ENSP00000499875.1:n.322-25_322-4del
ENST00000672281.1:n.681-25_681-4del
ENST00000672286.1:n.745-25_745-4del
ENST00000672438.1:c.220-25_220-4del	ENSP00000499997.1:n.220-25_220-4del
ENST00000672476.1:n.676-25_676-4del
ENST00000672493.1:n.1023-25_1023-4del
ENST00000672519.1:c.*329-25_*329-4del	ENSP00000500320.1:n.*329-25_*329-4del
ENST00000672535.1:c.*214-25_*214-4del	ENSP00000499872.1:n.*214-25_*214-4del
ENST00000672615.1:n.561-25_561-4del
ENST00000672846.1:c.*214-25_*214-4del	ENSP00000500396.1:n.*214-25_*214-4del
ENST00000673114.1:n.348-25_348-4del
ENST00000673171.1:n.561-25_561-4del
ENST00000673211.1:n.566-25_566-4del
ENST00000673248.1:c.220-25_220-4del	ENSP00000500601.1:n.220-25_220-4del
ENST00000673333.1:n.762-25_762-4del
ENST00000673360.1:c.134-25_134-4del	ENSP00000500360.1:n.134-25_134-4del
ENST00000673416.1:c.220-25_220-4del	ENSP00000500738.1:n.220-25_220-4del
ENST00000673485.1:n.681-25_681-4del
ENST00000673487.1:c.*214-25_*214-4del	ENSP00000500943.1:n.*214-25_*214-4del
ENST00000673598.1:c.-39-25_-39-4del	ENSP00000499991.1:n.-39-25_-39-4del
ENST00000309615.7:c.322-25_322-4del	ENSP00000311547.4:n.322-25_322-4del
ENST00000379812.9:c.310-25_310-4del	ENSP00000369140.5:n.310-25_310-4del
ENST00000379813.7:c.526-1198_526-1177del	ENSP00000369141.4:n.526-1198_526-1177del
ENST00000379817.6:c.484-25_484-4del	ENSP00000369145.2:n.484-25_484-4del
ENST00000379819.5:c.526-25_526-4del	ENSP00000369147.1:n.526-25_526-4del
ENST00000379825.6:c.526-25_526-4del	ENSP00000369153.2:n.526-25_526-4del
ENST00000397172.7:c.310-25_310-4del	ENSP00000380357.3:n.310-25_310-4del
ENST00000436040.6:c.484-25_484-4del	ENSP00000400806.3:n.484-25_484-4del
ENST00000460940.5:c.*329-25_*329-4del	ENSP00000418311.1:n.*329-25_*329-4del
ENST00000463596.5:c.484-25_484-4del	ENSP00000419846.1:n.484-25_484-4del
ENST00000464632.5:c.*214-25_*214-4del	ENSP00000418069.1:n.*214-25_*214-4del
ENST00000465003.5:c.*111-25_*111-4del	ENSP00000419430.1:n.*111-25_*111-4del
ENST00000467331.5:c.*329-25_*329-4del	ENSP00000418733.1:n.*329-25_*329-4del
ENST00000468275.5:c.484-25_484-4del	ENSP00000420263.1:n.484-25_484-4del
ENST00000472896.5:c.*214-25_*214-4del	ENSP00000417804.1:n.*214-25_*214-4del
ENST00000473221.5:c.364-25_364-4del	ENSP00000419020.1:n.364-25_364-4del
ENST00000474658.6:c.151-25_151-4del
ENST00000476858.5:c.364-25_364-4del	ENSP00000419042.1:n.364-25_364-4del
ENST00000477119.1:c.322-25_322-4del	ENSP00000417649.1:n.322-25_322-4del
ENST00000478279.5:c.*111-25_*111-4del	ENSP00000419597.1:n.*111-25_*111-4del
ENST00000479656.5:c.*329-25_*329-4del	ENSP00000420071.1:n.*329-25_*329-4del
ENST00000480031.5:c.*278-25_*278-4del	ENSP00000417684.1:n.*278-25_*278-4del
ENST00000482687.5:c.484-25_484-4del	ENSP00000419289.1:n.484-25_484-4del
ENST00000483148.5:c.*111-25_*111-4del	ENSP00000419723.1:n.*111-25_*111-4del
ENST00000485479.5:c.*214-25_*214-4del	ENSP00000418144.1:n.*214-25_*214-4del
ENST00000486724.5:n.220-25_220-4del
ENST00000494649.5:c.*329-25_*329-4del	ENSP00000417634.1:n.*329-25_*329-4del
ENST00000495360.5:c.*214-25_*214-4del	ENSP00000419623.1:n.*214-25_*214-4del
ENST00000496030.1:n.592-25_592-4del
NM_001195248.1:c.526-25_526-4del	NP_001182177.1:n.526-25_526-4del
NM_001195249.1:c.484-25_484-4del	NP_001182178.1:n.484-25_484-4del
NM_001195250.1:c.364-25_364-4del	NP_001182179.1:n.364-25_364-4del
NM_001195251.1:c.484-25_484-4del	NP_001182180.1:n.484-25_484-4del
NM_001195252.1:c.310-25_310-4del	NP_001182181.1:n.310-25_310-4del
NM_001195254.1:c.322-25_322-4del	NP_001182183.1:n.322-25_322-4del
NM_175069.2:c.526-25_526-4del	NP_778239.1:n.526-25_526-4del
NM_175073.2:c.484-25_484-4del	NP_778243.1:n.484-25_484-4del
NR_036576.1:n.558-25_558-4del
NR_036577.1:n.448-25_448-4del
NR_036578.1:n.580-25_580-4del
NR_036579.1:n.727-25_727-4del
XM_006716791.2:c.484-25_484-4del	XP_006716854.1:n.484-25_484-4del
XM_006716792.2:c.220-25_220-4del	XP_006716855.1:n.220-25_220-4del
XM_011517936.1:c.220-25_220-4del	XP_011516238.1:n.220-25_220-4del
XM_011517937.1:c.220-25_220-4del	XP_011516239.1:n.220-25_220-4del
XM_011517938.1:c.220-25_220-4del	XP_011516240.1:n.220-25_220-4del
XM_011517939.1:c.220-25_220-4del	XP_011516241.1:n.220-25_220-4del
XR_428423.2:n.563-25_563-4del
XR_929276.1:n.563-25_563-4del
XR_929277.1:n.563-25_563-4del
XR_929279.1:n.563-25_563-4del
XM_006716791.4:c.484-25_484-4del	XP_006716854.1:n.484-25_484-4del
XM_006716792.3:c.220-25_220-4del	XP_006716855.1:n.220-25_220-4del
XM_011517938.2:c.220-25_220-4del	XP_011516240.1:n.220-25_220-4del
XM_011517939.3:c.220-25_220-4del	XP_011516241.1:n.220-25_220-4del
XM_017014831.1:c.526-25_526-4del	XP_016870320.1:n.526-25_526-4del
XM_017014832.1:c.526-25_526-4del	XP_016870321.1:n.526-25_526-4del
XM_017014833.2:c.526-25_526-4del	XP_016870322.1:n.526-25_526-4del
XM_017014836.2:c.526-25_526-4del	XP_016870325.1:n.526-25_526-4del
XM_017014837.2:c.322-25_322-4del	XP_016870326.1:n.322-25_322-4del
XM_017014838.1:c.220-25_220-4del	XP_016870327.1:n.220-25_220-4del
XM_024447575.1:c.484-25_484-4del	XP_024303343.1:n.484-25_484-4del
XM_024447576.1:c.484-25_484-4del	XP_024303344.1:n.484-25_484-4del
XM_024447577.1:c.484-25_484-4del	XP_024303345.1:n.484-25_484-4del
XM_024447578.1:c.526-25_526-4del	XP_024303346.1:n.526-25_526-4del
XM_024447579.1:c.484-25_484-4del	XP_024303347.1:n.484-25_484-4del
XM_024447580.1:c.322-25_322-4del	XP_024303348.1:n.322-25_322-4del
XM_024447581.1:c.220-25_220-4del	XP_024303349.1:n.220-25_220-4del
XM_024447582.1:c.220-25_220-4del	XP_024303350.1:n.220-25_220-4del
XR_001746325.2:n.563-25_563-4del
XR_001746326.2:n.571-25_571-4del
XR_428423.3:n.563-25_563-4del
XR_929276.3:n.563-25_563-4del
XR_929277.3:n.563-25_563-4del
NM_001195248.2:c.484-25_484-4del MANE Select	NP_001182177.2:n.484-25_484-4del
NM_001195250.2:c.322-25_322-4del	NP_001182179.2:n.322-25_322-4del
NM_001195252.2:c.268-25_268-4del	NP_001182181.2:n.268-25_268-4del
NM_001368995.1:c.484-25_484-4del	NP_001355924.1:n.484-25_484-4del
NM_001368996.1:c.484-25_484-4del	NP_001355925.1:n.484-25_484-4del
NM_001368997.1:c.484-25_484-4del	NP_001355926.1:n.484-25_484-4del
NM_001368998.1:c.484-25_484-4del	NP_001355927.1:n.484-25_484-4del
NM_001368999.1:c.484-25_484-4del	NP_001355928.1:n.484-25_484-4del
NM_001369000.1:c.322-25_322-4del	NP_001355929.1:n.322-25_322-4del
NM_001369001.1:c.322-25_322-4del	NP_001355930.1:n.322-25_322-4del
NM_001369002.1:c.220-25_220-4del	NP_001355931.1:n.220-25_220-4del
NM_001369003.1:c.220-25_220-4del	NP_001355932.1:n.220-25_220-4del
NM_001369004.1:c.220-25_220-4del	NP_001355933.1:n.220-25_220-4del
NM_001369005.1:c.220-25_220-4del	NP_001355934.1:n.220-25_220-4del
NM_001369006.1:c.220-25_220-4del	NP_001355935.1:n.220-25_220-4del
NM_001370669.1:c.220-25_220-4del	NP_001357598.1:n.220-25_220-4del
NM_001370670.1:c.220-25_220-4del	NP_001357599.1:n.220-25_220-4del
NM_001370673.1:c.220-25_220-4del	NP_001357602.1:n.220-25_220-4del
NM_175069.3:c.484-25_484-4del	NP_778239.2:n.484-25_484-4del
NR_160920.1:n.550-25_550-4del
NR_160921.1:n.454-25_454-4del
NR_160922.1:n.685-25_685-4del
NR_160923.1:n.489-25_489-4del
NR_160924.1:n.494-25_494-4del
NR_160925.1:n.690-25_690-4del
NR_160926.1:n.480-25_480-4del
NR_160927.1:n.800-25_800-4del
NR_160928.1:n.690-25_690-4del
NR_160929.1:n.604-25_604-4del
NR_160930.1:n.430-25_430-4del
NR_160931.1:n.669-25_669-4del
NM_001195249.2:c.484-25_484-4del	NP_001182178.1:n.484-25_484-4del
NM_001195251.2:c.484-25_484-4del	NP_001182180.1:n.484-25_484-4del
NM_001195254.2:c.322-25_322-4del	NP_001182183.1:n.322-25_322-4del
NM_175073.3:c.484-25_484-4del	NP_778243.1:n.484-25_484-4del
NR_036577.2:n.435-25_435-4del