Canonical Allele Identifier: CA2544760157

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347297_72347298insTCTCGCTCTGTC , CM000677.2:g.72347297_72347298insTCTCGCTCTGTC	GRCh38
NC_000015.9:g.72639638_72639639insTCTCGCTCTGTC , CM000677.1:g.72639638_72639639insTCTCGCTCTGTC	GRCh37
NC_000015.8:g.70426692_70426693insTCTCGCTCTGTC	NCBI36
NG_009017.1:g.33882_33883insGACAGAGCGAGA
NG_009017.2:g.33882_33883insGACAGAGCGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+750_1073+751insGACAGAGCGAGA	ENSP00000457521.2:n.1073+750_1073+751insGACAGAGCGAGA
ENST00000682061.1:c.*808+388_*808+389insGACAGAGCGAGA	ENSP00000508316.1:n.*808+388_*808+389insGACAGAGCGAGA
ENST00000682177.1:c.1189+388_1189+389insGACAGAGCGAGA	ENSP00000507409.1:n.1189+388_1189+389insGACAGAGCGAGA
ENST00000682461.1:c.1252+388_1252+389insGACAGAGCGAGA	ENSP00000507308.1:n.1252+388_1252+389insGACAGAGCGAGA
ENST00000682653.1:n.1466+388_1466+389insGACAGAGCGAGA
ENST00000682657.1:c.*483+750_*483+751insGACAGAGCGAGA	ENSP00000507753.1:n.*483+750_*483+751insGACAGAGCGAGA
ENST00000682721.1:c.*949+388_*949+389insGACAGAGCGAGA	ENSP00000507535.1:n.*949+388_*949+389insGACAGAGCGAGA
ENST00000682843.1:c.*971+750_*971+751insGACAGAGCGAGA	ENSP00000508173.1:n.*971+750_*971+751insGACAGAGCGAGA
ENST00000683003.1:c.*483+750_*483+751insGACAGAGCGAGA	ENSP00000507576.1:n.*483+750_*483+751insGACAGAGCGAGA
ENST00000683133.1:c.1330+388_1330+389insGACAGAGCGAGA	ENSP00000508108.1:n.1330+388_1330+389insGACAGAGCGAGA
ENST00000683228.1:n.1565_1566insGACAGAGCGAGA
ENST00000683243.1:c.*483+750_*483+751insGACAGAGCGAGA	ENSP00000507042.1:n.*483+750_*483+751insGACAGAGCGAGA
ENST00000683463.1:c.1074-588_1074-587insGACAGAGCGAGA	ENSP00000507986.1:n.1074-588_1074-587insGACAGAGCGAGA
ENST00000683548.1:n.1104+750_1104+751insGACAGAGCGAGA
ENST00000683579.1:c.*1044+388_*1044+389insGACAGAGCGAGA	ENSP00000506867.1:n.*1044+388_*1044+389insGACAGAGCGAGA
ENST00000683587.1:n.1177+388_1177+389insGACAGAGCGAGA
ENST00000683681.1:c.1146+388_1146+389insGACAGAGCGAGA	ENSP00000508110.1:n.1146+388_1146+389insGACAGAGCGAGA
ENST00000683735.1:c.*1044+388_*1044+389insGACAGAGCGAGA	ENSP00000508336.1:n.*1044+388_*1044+389insGACAGAGCGAGA
ENST00000683742.1:n.1365_1366insGACAGAGCGAGA
ENST00000683853.1:c.1074-588_1074-587insGACAGAGCGAGA	ENSP00000506834.1:n.1074-588_1074-587insGACAGAGCGAGA
ENST00000683860.1:c.1146+388_1146+389insGACAGAGCGAGA	ENSP00000507179.1:n.1146+388_1146+389insGACAGAGCGAGA
ENST00000683884.1:c.1146+388_1146+389insGACAGAGCGAGA	ENSP00000507004.1:n.1146+388_1146+389insGACAGAGCGAGA
ENST00000684041.1:c.1146+388_1146+389insGACAGAGCGAGA	ENSP00000508382.1:n.1146+388_1146+389insGACAGAGCGAGA
ENST00000684125.1:c.1073+750_1073+751insGACAGAGCGAGA	ENSP00000507320.1:n.1073+750_1073+751insGACAGAGCGAGA
ENST00000684203.1:n.2912-588_2912-587insGACAGAGCGAGA
ENST00000684231.1:c.*556+388_*556+389insGACAGAGCGAGA	ENSP00000507748.1:n.*556+388_*556+389insGACAGAGCGAGA
ENST00000684263.1:c.*86+388_*86+389insGACAGAGCGAGA	ENSP00000508369.1:n.*86+388_*86+389insGACAGAGCGAGA
ENST00000684305.1:c.1594+388_1594+389insGACAGAGCGAGA	ENSP00000506819.1:n.1594+388_1594+389insGACAGAGCGAGA
ENST00000684415.1:c.*14-588_*14-587insGACAGAGCGAGA	ENSP00000507227.1:n.*14-588_*14-587insGACAGAGCGAGA
ENST00000684520.1:c.1146+388_1146+389insGACAGAGCGAGA	ENSP00000506826.1:n.1146+388_1146+389insGACAGAGCGAGA
ENST00000684602.1:c.*812+388_*812+389insGACAGAGCGAGA	ENSP00000507996.1:n.*812+388_*812+389insGACAGAGCGAGA
ENST00000684667.1:c.1477+388_1477+389insGACAGAGCGAGA	ENSP00000507003.1:n.1477+388_1477+389insGACAGAGCGAGA
ENST00000268097.10:c.1146+388_1146+389insGACAGAGCGAGA MANE Select	ENSP00000268097.6:n.1146+388_1146+389insGACAGAGCGAGA
ENST00000268097.9:c.1146+388_1146+389insGACAGAGCGAGA	ENSP00000268097.5:n.1146+388_1146+389insGACAGAGCGAGA
ENST00000379915.4:c.413-973_413-972insGACAGAGCGAGA	ENSP00000478716.1:n.413-973_413-972insGACAGAGCGAGA
ENST00000563762.5:c.825+750_825+751insGACAGAGCGAGA	ENSP00000456346.1:n.825+750_825+751insGACAGAGCGAGA
ENST00000566304.5:c.1179+388_1179+389insGACAGAGCGAGA	ENSP00000455114.1:n.1179+388_1179+389insGACAGAGCGAGA
ENST00000566672.5:c.*556+388_*556+389insGACAGAGCGAGA	ENSP00000457037.1:n.*556+388_*556+389insGACAGAGCGAGA
ENST00000567027.5:c.945+750_945+751insGACAGAGCGAGA
ENST00000567159.5:c.1146+388_1146+389insGACAGAGCGAGA	ENSP00000456489.1:n.1146+388_1146+389insGACAGAGCGAGA
ENST00000567411.5:c.*667+388_*667+389insGACAGAGCGAGA	ENSP00000455545.1:n.*667+388_*667+389insGACAGAGCGAGA
ENST00000568777.5:n.6550+388_6550+389insGACAGAGCGAGA
ENST00000569410.5:c.1074-588_1074-587insGACAGAGCGAGA	ENSP00000457125.1:n.1074-588_1074-587insGACAGAGCGAGA
NM_000520.4:c.1146+388_1146+389insGACAGAGCGAGA	NP_000511.2:n.1146+388_1146+389insGACAGAGCGAGA
NM_000520.5:c.1146+388_1146+389insGACAGAGCGAGA	NP_000511.2:n.1146+388_1146+389insGACAGAGCGAGA
NM_001318825.1:c.1179+388_1179+389insGACAGAGCGAGA	NP_001305754.1:n.1179+388_1179+389insGACAGAGCGAGA
NR_134869.1:n.1574+750_1574+751insGACAGAGCGAGA
NM_000520.6:c.1146+388_1146+389insGACAGAGCGAGA MANE Select	NP_000511.2:n.1146+388_1146+389insGACAGAGCGAGA
NM_001318825.2:c.1179+388_1179+389insGACAGAGCGAGA	NP_001305754.1:n.1179+388_1179+389insGACAGAGCGAGA
NR_134869.2:n.1115+750_1115+751insGACAGAGCGAGA
NR_134869.3:n.1115+750_1115+751insGACAGAGCGAGA