Canonical Allele Identifier: CA2695220944

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346579_72346580insTATC , CM000677.2:g.72346579_72346580insTATC	GRCh38
NC_000015.9:g.72638920_72638921insTATC , CM000677.1:g.72638920_72638921insTATC	GRCh37
NC_000015.8:g.70425974_70425975insTATC	NCBI36
NG_009017.1:g.34600_34601insGATA
NG_009017.2:g.34600_34601insGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-255_1074-254insGATA	ENSP00000457521.2:n.1074-255_1074-254insGATA
ENST00000682061.1:c.*939_*940insGATA	ENSP00000508316.1:n.*939_*940insGATA
ENST00000682064.1:n.619_620insGATA
ENST00000682177.1:c.1320_1321insGATA	ENSP00000507409.1:n.1320_1321insGATA
ENST00000682235.1:n.616_617insGATA
ENST00000682461.1:c.1383_1384insGATA	ENSP00000507308.1:n.1383_1384insGATA
ENST00000682653.1:n.1597_1598insGATA
ENST00000682657.1:c.*484-255_*484-254insGATA	ENSP00000507753.1:n.*484-255_*484-254insGATA
ENST00000682721.1:c.*1080_*1081insGATA	ENSP00000507535.1:n.*1080_*1081insGATA
ENST00000682843.1:c.*972-255_*972-254insGATA	ENSP00000508173.1:n.*972-255_*972-254insGATA
ENST00000683003.1:c.*484-255_*484-254insGATA	ENSP00000507576.1:n.*484-255_*484-254insGATA
ENST00000683133.1:c.1461_1462insGATA	ENSP00000508108.1:n.1461_1462insGATA
ENST00000683243.1:c.*484-255_*484-254insGATA	ENSP00000507042.1:n.*484-255_*484-254insGATA
ENST00000683463.1:c.*82_*83insGATA	ENSP00000507986.1:n.*82_*83insGATA
ENST00000683548.1:n.1105-255_1105-254insGATA
ENST00000683579.1:c.*1175_*1176insGATA	ENSP00000506867.1:n.*1175_*1176insGATA
ENST00000683587.1:n.1178-255_1178-254insGATA
ENST00000683681.1:c.1277_1278insGATA	ENSP00000508110.1:p.Tyr427IlefsTer5
ENST00000683735.1:c.*1045-255_*1045-254insGATA	ENSP00000508336.1:n.*1045-255_*1045-254insGATA
ENST00000683853.1:c.*82_*83insGATA	ENSP00000506834.1:n.*82_*83insGATA
ENST00000683860.1:c.1277_1278insGATA	ENSP00000507179.1:p.Tyr427IlefsTer5
ENST00000683884.1:c.1147-255_1147-254insGATA	ENSP00000507004.1:n.1147-255_1147-254insGATA
ENST00000684041.1:c.1277_1278insGATA	ENSP00000508382.1:p.Tyr427IlefsTer5
ENST00000684125.1:c.1074-255_1074-254insGATA	ENSP00000507320.1:n.1074-255_1074-254insGATA
ENST00000684203.1:n.3042_3043insGATA
ENST00000684231.1:c.*687_*688insGATA	ENSP00000507748.1:n.*687_*688insGATA
ENST00000684263.1:c.*217_*218insGATA	ENSP00000508369.1:n.*217_*218insGATA
ENST00000684305.1:c.1725_1726insGATA	ENSP00000506819.1:n.1725_1726insGATA
ENST00000684415.1:c.*144_*145insGATA	ENSP00000507227.1:n.*144_*145insGATA
ENST00000684520.1:c.1277_1278insGATA	ENSP00000506826.1:p.Tyr427IlefsTer5
ENST00000684602.1:c.*943_*944insGATA	ENSP00000507996.1:n.*943_*944insGATA
ENST00000684667.1:c.1608_1609insGATA	ENSP00000507003.1:n.1608_1609insGATA
ENST00000268097.10:c.1277_1278insGATA MANE Select	ENSP00000268097.6:p.Tyr427IlefsTer5
ENST00000268097.9:c.1277_1278insGATA	ENSP00000268097.5:p.Tyr427IlefsTer5
ENST00000379915.4:c.413-255_413-254insGATA	ENSP00000478716.1:n.413-255_413-254insGATA
ENST00000563762.5:c.826-255_826-254insGATA	ENSP00000456346.1:n.826-255_826-254insGATA
ENST00000566304.5:c.1310_1311insGATA	ENSP00000455114.1:p.Tyr438IlefsTer5
ENST00000566672.5:c.*687_*688insGATA	ENSP00000457037.1:n.*687_*688insGATA
ENST00000567027.5:c.946-255_946-254insGATA
ENST00000567159.5:c.1277_1278insGATA	ENSP00000456489.1:p.Tyr427IlefsTer5
ENST00000567411.5:c.*798_*799insGATA	ENSP00000455545.1:n.*798_*799insGATA
ENST00000568777.5:n.6551-255_6551-254insGATA
ENST00000569410.5:c.*82_*83insGATA	ENSP00000457125.1:n.*82_*83insGATA
NM_000520.4:c.1277_1278insGATA	NP_000511.2:p.Tyr427IlefsTer5
NM_000520.5:c.1277_1278insGATA	NP_000511.2:p.Tyr427IlefsTer5
NM_001318825.1:c.1310_1311insGATA	NP_001305754.1:p.Tyr438IlefsTer5
NR_134869.1:n.1575-255_1575-254insGATA
NM_000520.6:c.1277_1278insGATA MANE Select	NP_000511.2:p.Tyr427IlefsTer5
NM_001318825.2:c.1310_1311insGATA	NP_001305754.1:p.Tyr438IlefsTer5
NR_134869.2:n.1116-255_1116-254insGATA
NR_134869.3:n.1116-255_1116-254insGATA