Canonical Allele Identifier: CA2186744234

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347685_72347690delinsCCTTTA , CM000677.2:g.72347685_72347690delinsCCTTTA	GRCh38
NC_000015.9:g.72640026_72640031delinsCCTTTA , CM000677.1:g.72640026_72640031delinsCCTTTA	GRCh37
NC_000015.8:g.70427080_70427085delinsCCTTTA	NCBI36
NG_009017.1:g.33490_33495delinsTAAAGG
NG_009017.2:g.33490_33495delinsTAAAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1073+358_1073+363delinsTAAAGG	ENSP00000457521.2:n.1073+358_1073+363delinsTAAAGG
ENST00000682061.1:c.*804_*808+1delinsTAAAGG
ENST00000682177.1:c.1185_1189+1delinsTAAAGG
ENST00000682461.1:c.1248_1252+1delinsTAAAGG
ENST00000682653.1:n.1462_1466+1delinsTAAAGG
ENST00000682657.1:c.*483+358_*483+363delinsTAAAGG	ENSP00000507753.1:n.*483+358_*483+363delinsTAAAGG
ENST00000682721.1:c.*945_*949+1delinsTAAAGG
ENST00000682843.1:c.*971+358_*971+363delinsTAAAGG	ENSP00000508173.1:n.*971+358_*971+363delinsTAAAGG
ENST00000683003.1:c.*483+358_*483+363delinsTAAAGG	ENSP00000507576.1:n.*483+358_*483+363delinsTAAAGG
ENST00000683133.1:c.1326_1330+1delinsTAAAGG
ENST00000683228.1:n.1173_1178delinsTAAAGG
ENST00000683243.1:c.*483+358_*483+363delinsTAAAGG	ENSP00000507042.1:n.*483+358_*483+363delinsTAAAGG
ENST00000683463.1:c.1073+358_1073+363delinsTAAAGG	ENSP00000507986.1:n.1073+358_1073+363delinsTAAAGG
ENST00000683548.1:n.1104+358_1104+363delinsTAAAGG
ENST00000683579.1:c.*1040_*1044+1delinsTAAAGG
ENST00000683587.1:n.1173_1177+1delinsTAAAGG
ENST00000683681.1:c.1142_1146+1delinsTAAAGG
ENST00000683735.1:c.*1040_*1044+1delinsTAAAGG
ENST00000683742.1:n.973_978delinsTAAAGG
ENST00000683853.1:c.1073+358_1073+363delinsTAAAGG	ENSP00000506834.1:n.1073+358_1073+363delinsTAAAGG
ENST00000683860.1:c.1142_1146+1delinsTAAAGG
ENST00000683884.1:c.1142_1146+1delinsTAAAGG
ENST00000684041.1:c.1142_1146+1delinsTAAAGG
ENST00000684125.1:c.1073+358_1073+363delinsTAAAGG	ENSP00000507320.1:n.1073+358_1073+363delinsTAAAGG
ENST00000684203.1:n.2911+358_2911+363delinsTAAAGG
ENST00000684231.1:c.*552_*556+1delinsTAAAGG
ENST00000684263.1:c.*82_*86+1delinsTAAAGG
ENST00000684305.1:c.1590_1594+1delinsTAAAGG
ENST00000684415.1:c.*13+341_*13+346delinsTAAAGG	ENSP00000507227.1:n.*13+341_*13+346delinsTAAAGG
ENST00000684520.1:c.1142_1146+1delinsTAAAGG
ENST00000684602.1:c.*808_*812+1delinsTAAAGG
ENST00000684667.1:c.1473_1477+1delinsTAAAGG
ENST00000268097.10:c.1142_1146+1delinsTAAAGG
ENST00000268097.9:c.1142_1146+1delinsTAAAGG
ENST00000379915.4:c.413-1365_413-1360delinsTAAAGG	ENSP00000478716.1:n.413-1365_413-1360delinsTAAAGG
ENST00000563762.5:c.825+358_825+363delinsTAAAGG	ENSP00000456346.1:n.825+358_825+363delinsTAAAGG
ENST00000566304.5:c.1175_1179+1delinsTAAAGG
ENST00000566672.5:c.*552_*556+1delinsTAAAGG
ENST00000567027.5:c.945+358_945+363delinsTAAAGG
ENST00000567159.5:c.1142_1146+1delinsTAAAGG
ENST00000567411.5:c.*663_*667+1delinsTAAAGG
ENST00000568777.5:n.6546_6550+1delinsTAAAGG
ENST00000569410.5:c.1073+358_1073+363delinsTAAAGG	ENSP00000457125.1:n.1073+358_1073+363delinsTAAAGG
NM_000520.4:c.1142_1146+1delinsTAAAGG
NM_000520.5:c.1142_1146+1delinsTAAAGG
NM_001318825.1:c.1175_1179+1delinsTAAAGG
NR_134869.1:n.1574+358_1574+363delinsTAAAGG
NM_000520.6:c.1142_1146+1delinsTAAAGG
NM_001318825.2:c.1175_1179+1delinsTAAAGG
NR_134869.2:n.1115+358_1115+363delinsTAAAGG
NR_134869.3:n.1115+358_1115+363delinsTAAAGG