Canonical Allele Identifier: CA2804700018

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347183_72347185del , CM000677.2:g.72347183_72347185del	GRCh38
NC_000015.9:g.72639524_72639526del , CM000677.1:g.72639524_72639526del	GRCh37
NC_000015.8:g.70426578_70426580del	NCBI36
NG_009017.1:g.33995_33997del
NG_009017.2:g.33995_33997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-860_1074-858del	ENSP00000457521.2:n.1074-860_1074-858del
ENST00000682061.1:c.*809-475_*809-473del	ENSP00000508316.1:n.*809-475_*809-473del
ENST00000682064.1:n.14_16del
ENST00000682177.1:c.1190-475_1190-473del	ENSP00000507409.1:n.1190-475_1190-473del
ENST00000682235.1:n.11_13del
ENST00000682461.1:c.1253-475_1253-473del	ENSP00000507308.1:n.1253-475_1253-473del
ENST00000682653.1:n.1467-475_1467-473del
ENST00000682657.1:c.*484-860_*484-858del	ENSP00000507753.1:n.*484-860_*484-858del
ENST00000682721.1:c.*950-475_*950-473del	ENSP00000507535.1:n.*950-475_*950-473del
ENST00000682843.1:c.*972-860_*972-858del	ENSP00000508173.1:n.*972-860_*972-858del
ENST00000683003.1:c.*484-860_*484-858del	ENSP00000507576.1:n.*484-860_*484-858del
ENST00000683133.1:c.1331-475_1331-473del	ENSP00000508108.1:n.1331-475_1331-473del
ENST00000683243.1:c.*484-860_*484-858del	ENSP00000507042.1:n.*484-860_*484-858del
ENST00000683463.1:c.1074-475_1074-473del	ENSP00000507986.1:n.1074-475_1074-473del
ENST00000683548.1:n.1105-860_1105-858del
ENST00000683579.1:c.*1045-475_*1045-473del	ENSP00000506867.1:n.*1045-475_*1045-473del
ENST00000683587.1:n.1177+501_1177+503del
ENST00000683681.1:c.1147-475_1147-473del	ENSP00000508110.1:n.1147-475_1147-473del
ENST00000683735.1:c.*1044+501_*1044+503del	ENSP00000508336.1:n.*1044+501_*1044+503del
ENST00000683853.1:c.1074-475_1074-473del	ENSP00000506834.1:n.1074-475_1074-473del
ENST00000683860.1:c.1147-475_1147-473del	ENSP00000507179.1:n.1147-475_1147-473del
ENST00000683884.1:c.1146+501_1146+503del	ENSP00000507004.1:n.1146+501_1146+503del
ENST00000684041.1:c.1147-475_1147-473del	ENSP00000508382.1:n.1147-475_1147-473del
ENST00000684125.1:c.1074-860_1074-858del	ENSP00000507320.1:n.1074-860_1074-858del
ENST00000684203.1:n.2912-475_2912-473del
ENST00000684231.1:c.*557-475_*557-473del	ENSP00000507748.1:n.*557-475_*557-473del
ENST00000684263.1:c.*87-475_*87-473del	ENSP00000508369.1:n.*87-475_*87-473del
ENST00000684305.1:c.1595-475_1595-473del	ENSP00000506819.1:n.1595-475_1595-473del
ENST00000684415.1:c.*14-475_*14-473del	ENSP00000507227.1:n.*14-475_*14-473del
ENST00000684520.1:c.1147-475_1147-473del	ENSP00000506826.1:n.1147-475_1147-473del
ENST00000684602.1:c.*813-475_*813-473del	ENSP00000507996.1:n.*813-475_*813-473del
ENST00000684667.1:c.1478-475_1478-473del	ENSP00000507003.1:n.1478-475_1478-473del
ENST00000268097.10:c.1147-475_1147-473del MANE Select	ENSP00000268097.6:n.1147-475_1147-473del
ENST00000268097.9:c.1147-475_1147-473del	ENSP00000268097.5:n.1147-475_1147-473del
ENST00000379915.4:c.413-860_413-858del	ENSP00000478716.1:n.413-860_413-858del
ENST00000563762.5:c.826-860_826-858del	ENSP00000456346.1:n.826-860_826-858del
ENST00000566304.5:c.1180-475_1180-473del	ENSP00000455114.1:n.1180-475_1180-473del
ENST00000566672.5:c.*557-475_*557-473del	ENSP00000457037.1:n.*557-475_*557-473del
ENST00000567027.5:c.946-860_946-858del
ENST00000567159.5:c.1147-475_1147-473del	ENSP00000456489.1:n.1147-475_1147-473del
ENST00000567411.5:c.*668-475_*668-473del	ENSP00000455545.1:n.*668-475_*668-473del
ENST00000568777.5:n.6550+501_6550+503del
ENST00000569410.5:c.1074-475_1074-473del	ENSP00000457125.1:n.1074-475_1074-473del
NM_000520.4:c.1147-475_1147-473del	NP_000511.2:n.1147-475_1147-473del
NM_000520.5:c.1147-475_1147-473del	NP_000511.2:n.1147-475_1147-473del
NM_001318825.1:c.1180-475_1180-473del	NP_001305754.1:n.1180-475_1180-473del
NR_134869.1:n.1575-860_1575-858del
NM_000520.6:c.1147-475_1147-473del MANE Select	NP_000511.2:n.1147-475_1147-473del
NM_001318825.2:c.1180-475_1180-473del	NP_001305754.1:n.1180-475_1180-473del
NR_134869.2:n.1116-860_1116-858del
NR_134869.3:n.1116-860_1116-858del