Canonical Allele Identifier: CA2552224426

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72350708_72350709insGAGGTCATTGA , CM000677.2:g.72350708_72350709insGAGGTCATTGA	GRCh38
NC_000015.9:g.72643049_72643050insGAGGTCATTGA , CM000677.1:g.72643049_72643050insGAGGTCATTGA	GRCh37
NC_000015.8:g.70430103_70430104insGAGGTCATTGA	NCBI36
NG_009017.1:g.30471_30472insTCAATGACCTC
NG_009017.2:g.30471_30472insTCAATGACCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563908.2:n.3019-59_3019-58insTCAATGACCTC
ENST00000567027.6:c.673-59_673-58insTCAATGACCTC	ENSP00000457521.2:n.673-59_673-58insTCAATGACCTC
ENST00000682061.1:c.*335-59_*335-58insTCAATGACCTC	ENSP00000508316.1:n.*335-59_*335-58insTCAATGACCTC
ENST00000682177.1:c.673-16_673-15insTCAATGACCTC	ENSP00000507409.1:n.673-16_673-15insTCAATGACCTC
ENST00000682461.1:c.779-59_779-58insTCAATGACCTC	ENSP00000507308.1:n.779-59_779-58insTCAATGACCTC
ENST00000682653.1:n.704-59_704-58insTCAATGACCTC
ENST00000682657.1:c.*83-59_*83-58insTCAATGACCTC	ENSP00000507753.1:n.*83-59_*83-58insTCAATGACCTC
ENST00000682721.1:c.*476-59_*476-58insTCAATGACCTC	ENSP00000507535.1:n.*476-59_*476-58insTCAATGACCTC
ENST00000682843.1:c.*571-59_*571-58insTCAATGACCTC	ENSP00000508173.1:n.*571-59_*571-58insTCAATGACCTC
ENST00000683003.1:c.*83-59_*83-58insTCAATGACCTC	ENSP00000507576.1:n.*83-59_*83-58insTCAATGACCTC
ENST00000683133.1:c.857-59_857-58insTCAATGACCTC	ENSP00000508108.1:n.857-59_857-58insTCAATGACCTC
ENST00000683228.1:n.704-59_704-58insTCAATGACCTC
ENST00000683243.1:c.*83-59_*83-58insTCAATGACCTC	ENSP00000507042.1:n.*83-59_*83-58insTCAATGACCTC
ENST00000683463.1:c.673-59_673-58insTCAATGACCTC	ENSP00000507986.1:n.673-59_673-58insTCAATGACCTC
ENST00000683548.1:n.704-59_704-58insTCAATGACCTC
ENST00000683579.1:c.*571-59_*571-58insTCAATGACCTC	ENSP00000506867.1:n.*571-59_*571-58insTCAATGACCTC
ENST00000683587.1:n.704-59_704-58insTCAATGACCTC
ENST00000683681.1:c.673-59_673-58insTCAATGACCTC	ENSP00000508110.1:n.673-59_673-58insTCAATGACCTC
ENST00000683735.1:c.*571-59_*571-58insTCAATGACCTC	ENSP00000508336.1:n.*571-59_*571-58insTCAATGACCTC
ENST00000683742.1:n.504-59_504-58insTCAATGACCTC
ENST00000683853.1:c.673-59_673-58insTCAATGACCTC	ENSP00000506834.1:n.673-59_673-58insTCAATGACCTC
ENST00000683860.1:c.673-59_673-58insTCAATGACCTC	ENSP00000507179.1:n.673-59_673-58insTCAATGACCTC
ENST00000683884.1:c.673-59_673-58insTCAATGACCTC	ENSP00000507004.1:n.673-59_673-58insTCAATGACCTC
ENST00000684041.1:c.673-59_673-58insTCAATGACCTC	ENSP00000508382.1:n.673-59_673-58insTCAATGACCTC
ENST00000684125.1:c.673-59_673-58insTCAATGACCTC	ENSP00000507320.1:n.673-59_673-58insTCAATGACCTC
ENST00000684203.1:n.2511-59_2511-58insTCAATGACCTC
ENST00000684231.1:c.*83-59_*83-58insTCAATGACCTC	ENSP00000507748.1:n.*83-59_*83-58insTCAATGACCTC
ENST00000684263.1:c.673-59_673-58insTCAATGACCTC	ENSP00000508369.1:n.673-59_673-58insTCAATGACCTC
ENST00000684305.1:c.1121-59_1121-58insTCAATGACCTC	ENSP00000506819.1:n.1121-59_1121-58insTCAATGACCTC
ENST00000684415.1:c.673-59_673-58insTCAATGACCTC	ENSP00000507227.1:n.673-59_673-58insTCAATGACCTC
ENST00000684520.1:c.673-59_673-58insTCAATGACCTC	ENSP00000506826.1:n.673-59_673-58insTCAATGACCTC
ENST00000684602.1:c.*339-59_*339-58insTCAATGACCTC	ENSP00000507996.1:n.*339-59_*339-58insTCAATGACCTC
ENST00000684667.1:c.1004-59_1004-58insTCAATGACCTC	ENSP00000507003.1:n.1004-59_1004-58insTCAATGACCTC
ENST00000268097.10:c.673-59_673-58insTCAATGACCTC MANE Select	ENSP00000268097.6:n.673-59_673-58insTCAATGACCTC
ENST00000268097.9:c.673-59_673-58insTCAATGACCTC	ENSP00000268097.5:n.673-59_673-58insTCAATGACCTC
ENST00000379915.4:c.413-4384_413-4383insTCAATGACCTC	ENSP00000478716.1:n.413-4384_413-4383insTCAATGACCTC
ENST00000563762.5:c.606-59_606-58insTCAATGACCTC	ENSP00000456346.1:n.606-59_606-58insTCAATGACCTC
ENST00000566304.5:c.706-59_706-58insTCAATGACCTC	ENSP00000455114.1:n.706-59_706-58insTCAATGACCTC
ENST00000566672.5:c.*83-59_*83-58insTCAATGACCTC	ENSP00000457037.1:n.*83-59_*83-58insTCAATGACCTC
ENST00000567027.5:c.545-59_545-58insTCAATGACCTC
ENST00000567159.5:c.673-59_673-58insTCAATGACCTC	ENSP00000456489.1:n.673-59_673-58insTCAATGACCTC
ENST00000567411.5:c.*194-59_*194-58insTCAATGACCTC	ENSP00000455545.1:n.*194-59_*194-58insTCAATGACCTC
ENST00000568777.5:n.6077-59_6077-58insTCAATGACCTC
ENST00000569410.5:c.673-59_673-58insTCAATGACCTC	ENSP00000457125.1:n.673-59_673-58insTCAATGACCTC
ENST00000569509.5:n.520-59_520-58insTCAATGACCTC
NM_000520.4:c.673-59_673-58insTCAATGACCTC	NP_000511.2:n.673-59_673-58insTCAATGACCTC
NM_000520.5:c.673-59_673-58insTCAATGACCTC	NP_000511.2:n.673-59_673-58insTCAATGACCTC
NM_001318825.1:c.706-59_706-58insTCAATGACCTC	NP_001305754.1:n.706-59_706-58insTCAATGACCTC
NR_134869.1:n.1174-59_1174-58insTCAATGACCTC
NM_000520.6:c.673-59_673-58insTCAATGACCTC MANE Select	NP_000511.2:n.673-59_673-58insTCAATGACCTC
NM_001318825.2:c.706-59_706-58insTCAATGACCTC	NP_001305754.1:n.706-59_706-58insTCAATGACCTC
NR_134869.2:n.715-59_715-58insTCAATGACCTC
NR_134869.3:n.715-59_715-58insTCAATGACCTC