Canonical Allele Identifier: CA2695220945

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346645_72346646del , CM000677.2:g.72346645_72346646del	GRCh38
NC_000015.9:g.72638986_72638987del , CM000677.1:g.72638986_72638987del	GRCh37
NC_000015.8:g.70426040_70426041del	NCBI36
NG_009017.1:g.34534_34535del
NG_009017.2:g.34534_34535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-321_1074-320del	ENSP00000457521.2:n.1074-321_1074-320del
ENST00000682061.1:c.*873_*874del	ENSP00000508316.1:n.*873_*874del
ENST00000682064.1:n.553_554del
ENST00000682177.1:c.1254_1255del	ENSP00000507409.1:n.1254_1255del
ENST00000682235.1:n.550_551del
ENST00000682461.1:c.1317_1318del	ENSP00000507308.1:n.1317_1318del
ENST00000682653.1:n.1531_1532del
ENST00000682657.1:c.*484-321_*484-320del	ENSP00000507753.1:n.*484-321_*484-320del
ENST00000682721.1:c.*1014_*1015del	ENSP00000507535.1:n.*1014_*1015del
ENST00000682843.1:c.*972-321_*972-320del	ENSP00000508173.1:n.*972-321_*972-320del
ENST00000683003.1:c.*484-321_*484-320del	ENSP00000507576.1:n.*484-321_*484-320del
ENST00000683133.1:c.1395_1396del	ENSP00000508108.1:n.1395_1396del
ENST00000683243.1:c.*484-321_*484-320del	ENSP00000507042.1:n.*484-321_*484-320del
ENST00000683463.1:c.*16_*17del	ENSP00000507986.1:n.*16_*17del
ENST00000683548.1:n.1105-321_1105-320del
ENST00000683579.1:c.*1109_*1110del	ENSP00000506867.1:n.*1109_*1110del
ENST00000683587.1:n.1178-321_1178-320del
ENST00000683681.1:c.1211_1212del	ENSP00000508110.1:p.Leu404ArgfsTer26
ENST00000683735.1:c.*1045-321_*1045-320del	ENSP00000508336.1:n.*1045-321_*1045-320del
ENST00000683853.1:c.*16_*17del	ENSP00000506834.1:n.*16_*17del
ENST00000683860.1:c.1211_1212del	ENSP00000507179.1:p.Leu404ArgfsTer26
ENST00000683884.1:c.1147-321_1147-320del	ENSP00000507004.1:n.1147-321_1147-320del
ENST00000684041.1:c.1211_1212del	ENSP00000508382.1:p.Leu404ArgfsTer26
ENST00000684125.1:c.1074-321_1074-320del	ENSP00000507320.1:n.1074-321_1074-320del
ENST00000684203.1:n.2976_2977del
ENST00000684231.1:c.*621_*622del	ENSP00000507748.1:n.*621_*622del
ENST00000684263.1:c.*151_*152del	ENSP00000508369.1:n.*151_*152del
ENST00000684305.1:c.1659_1660del	ENSP00000506819.1:n.1659_1660del
ENST00000684415.1:c.*78_*79del	ENSP00000507227.1:n.*78_*79del
ENST00000684520.1:c.1211_1212del	ENSP00000506826.1:p.Leu404ArgfsTer26
ENST00000684602.1:c.*877_*878del	ENSP00000507996.1:n.*877_*878del
ENST00000684667.1:c.1542_1543del	ENSP00000507003.1:n.1542_1543del
ENST00000268097.10:c.1211_1212del MANE Select	ENSP00000268097.6:p.Leu404ArgfsTer26
ENST00000268097.9:c.1211_1212del	ENSP00000268097.5:p.Leu404ArgfsTer26
ENST00000379915.4:c.413-321_413-320del	ENSP00000478716.1:n.413-321_413-320del
ENST00000563762.5:c.826-321_826-320del	ENSP00000456346.1:n.826-321_826-320del
ENST00000566304.5:c.1244_1245del	ENSP00000455114.1:p.Leu415ArgfsTer26
ENST00000566672.5:c.*621_*622del	ENSP00000457037.1:n.*621_*622del
ENST00000567027.5:c.946-321_946-320del
ENST00000567159.5:c.1211_1212del	ENSP00000456489.1:p.Leu404ArgfsTer26
ENST00000567411.5:c.*732_*733del	ENSP00000455545.1:n.*732_*733del
ENST00000568777.5:n.6551-321_6551-320del
ENST00000569410.5:c.*16_*17del	ENSP00000457125.1:n.*16_*17del
NM_000520.4:c.1211_1212del	NP_000511.2:p.Leu404ArgfsTer26
NM_000520.5:c.1211_1212del	NP_000511.2:p.Leu404ArgfsTer26
NM_001318825.1:c.1244_1245del	NP_001305754.1:p.Leu415ArgfsTer26
NR_134869.1:n.1575-321_1575-320del
NM_000520.6:c.1211_1212del MANE Select	NP_000511.2:p.Leu404ArgfsTer26
NM_001318825.2:c.1244_1245del	NP_001305754.1:p.Leu415ArgfsTer26
NR_134869.2:n.1116-321_1116-320del
NR_134869.3:n.1116-321_1116-320del