Canonical Allele Identifier: CA2186743358

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345711_72345713delinsCAG , CM000677.2:g.72345711_72345713delinsCAG	GRCh38
NC_000015.9:g.72638052_72638054delinsCAG , CM000677.1:g.72638052_72638054delinsCAG	GRCh37
NC_000015.8:g.70425106_70425108delinsCAG	NCBI36
NG_009017.1:g.35467_35469delinsCTG
NG_009017.2:g.35467_35469delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-163_*82-161delinsCTG	ENSP00000457521.2:n.*82-163_*82-161delinsCTG
ENST00000682061.1:c.*1605_*1607delinsCTG	ENSP00000508316.1:n.*1605_*1607delinsCTG
ENST00000682064.1:n.1486_1488delinsCTG
ENST00000682177.1:c.1465-163_1465-161delinsCTG	ENSP00000507409.1:n.1465-163_1465-161delinsCTG
ENST00000682235.1:n.1282_1284delinsCTG
ENST00000682461.1:c.1528-163_1528-161delinsCTG	ENSP00000507308.1:n.1528-163_1528-161delinsCTG
ENST00000682653.1:n.2263_2265delinsCTG
ENST00000682657.1:c.*1096_*1098delinsCTG	ENSP00000507753.1:n.*1096_*1098delinsCTG
ENST00000682721.1:c.*1225-163_*1225-161delinsCTG	ENSP00000507535.1:n.*1225-163_*1225-161delinsCTG
ENST00000682843.1:c.*1063-163_*1063-161delinsCTG	ENSP00000508173.1:n.*1063-163_*1063-161delinsCTG
ENST00000683003.1:c.*1096_*1098delinsCTG	ENSP00000507576.1:n.*1096_*1098delinsCTG
ENST00000683133.1:c.1606-163_1606-161delinsCTG	ENSP00000508108.1:n.1606-163_1606-161delinsCTG
ENST00000683243.1:c.*575-163_*575-161delinsCTG	ENSP00000507042.1:n.*575-163_*575-161delinsCTG
ENST00000683463.1:c.*748_*750delinsCTG	ENSP00000507986.1:n.*748_*750delinsCTG
ENST00000683548.1:n.1717_1719delinsCTG
ENST00000683579.1:c.*1320-163_*1320-161delinsCTG	ENSP00000506867.1:n.*1320-163_*1320-161delinsCTG
ENST00000683587.1:n.1790_1792delinsCTG
ENST00000683681.1:c.*63_*65delinsCTG	ENSP00000508110.1:n.*63_*65delinsCTG
ENST00000683735.1:c.*1657_*1659delinsCTG	ENSP00000508336.1:n.*1657_*1659delinsCTG
ENST00000683853.1:c.*227-163_*227-161delinsCTG	ENSP00000506834.1:n.*227-163_*227-161delinsCTG
ENST00000683860.1:c.*379_*381delinsCTG	ENSP00000507179.1:n.*379_*381delinsCTG
ENST00000683884.1:c.*586_*588delinsCTG	ENSP00000507004.1:n.*586_*588delinsCTG
ENST00000684041.1:c.*518_*520delinsCTG	ENSP00000508382.1:n.*518_*520delinsCTG
ENST00000684125.1:c.*82-163_*82-161delinsCTG	ENSP00000507320.1:n.*82-163_*82-161delinsCTG
ENST00000684203.1:n.3708_3710delinsCTG
ENST00000684231.1:c.*832-163_*832-161delinsCTG	ENSP00000507748.1:n.*832-163_*832-161delinsCTG
ENST00000684263.1:c.*883_*885delinsCTG	ENSP00000508369.1:n.*883_*885delinsCTG
ENST00000684305.1:c.1870-163_1870-161delinsCTG	ENSP00000506819.1:n.1870-163_1870-161delinsCTG
ENST00000684415.1:c.*810_*812delinsCTG	ENSP00000507227.1:n.*810_*812delinsCTG
ENST00000684520.1:c.*518_*520delinsCTG	ENSP00000506826.1:n.*518_*520delinsCTG
ENST00000684602.1:c.*1088-163_*1088-161delinsCTG	ENSP00000507996.1:n.*1088-163_*1088-161delinsCTG
ENST00000684667.1:c.1753-163_1753-161delinsCTG	ENSP00000507003.1:n.1753-163_1753-161delinsCTG
ENST00000268097.10:c.1422-163_1422-161delinsCTG MANE Select	ENSP00000268097.6:n.1422-163_1422-161delinsCTG
ENST00000268097.9:c.1422-163_1422-161delinsCTG	ENSP00000268097.5:n.1422-163_1422-161delinsCTG
ENST00000379915.4:c.504-163_504-161delinsCTG	ENSP00000478716.1:n.504-163_504-161delinsCTG
ENST00000564677.5:n.177_179delinsCTG
ENST00000565873.1:n.170_172delinsCTG
ENST00000566304.5:c.1455-163_1455-161delinsCTG	ENSP00000455114.1:n.1455-163_1455-161delinsCTG
ENST00000567027.5:c.1037-163_1037-161delinsCTG
ENST00000567159.5:c.1422-163_1422-161delinsCTG	ENSP00000456489.1:n.1422-163_1422-161delinsCTG
ENST00000567411.5:c.*943-163_*943-161delinsCTG	ENSP00000455545.1:n.*943-163_*943-161delinsCTG
ENST00000568777.5:n.6642-163_6642-161delinsCTG
ENST00000569116.1:n.92_94delinsCTG
NM_000520.4:c.1422-163_1422-161delinsCTG	NP_000511.2:n.1422-163_1422-161delinsCTG
NM_000520.5:c.1422-163_1422-161delinsCTG	NP_000511.2:n.1422-163_1422-161delinsCTG
NM_001318825.1:c.1455-163_1455-161delinsCTG	NP_001305754.1:n.1455-163_1455-161delinsCTG
NR_134869.1:n.1666-163_1666-161delinsCTG
NM_000520.6:c.1422-163_1422-161delinsCTG MANE Select	NP_000511.2:n.1422-163_1422-161delinsCTG
NM_001318825.2:c.1455-163_1455-161delinsCTG	NP_001305754.1:n.1455-163_1455-161delinsCTG
NR_134869.2:n.1207-163_1207-161delinsCTG
NR_134869.3:n.1207-163_1207-161delinsCTG