Canonical Allele Identifier: CA971330839

Gene: HEXA

Linked Data

• dbSNP Id: rs2088627535
• gnomAD v3: 15-72347214-TAA-T
• gnomAD v4: 15-72347214-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347215_72347216del , CM000677.2:g.72347215_72347216del	GRCh38
NC_000015.9:g.72639556_72639557del , CM000677.1:g.72639556_72639557del	GRCh37
NC_000015.8:g.70426610_70426611del	NCBI36
NG_009017.1:g.33964_33965del
NG_009017.2:g.33964_33965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+832_1073+833del	ENSP00000457521.2:n.1073+832_1073+833del
ENST00000682061.1:c.*808+470_*808+471del	ENSP00000508316.1:n.*808+470_*808+471del
ENST00000682177.1:c.1189+470_1189+471del	ENSP00000507409.1:n.1189+470_1189+471del
ENST00000682461.1:c.1252+470_1252+471del	ENSP00000507308.1:n.1252+470_1252+471del
ENST00000682653.1:n.1466+470_1466+471del
ENST00000682657.1:c.*483+832_*483+833del	ENSP00000507753.1:n.*483+832_*483+833del
ENST00000682721.1:c.*949+470_*949+471del	ENSP00000507535.1:n.*949+470_*949+471del
ENST00000682843.1:c.*971+832_*971+833del	ENSP00000508173.1:n.*971+832_*971+833del
ENST00000683003.1:c.*483+832_*483+833del	ENSP00000507576.1:n.*483+832_*483+833del
ENST00000683133.1:c.1330+470_1330+471del	ENSP00000508108.1:n.1330+470_1330+471del
ENST00000683243.1:c.*483+832_*483+833del	ENSP00000507042.1:n.*483+832_*483+833del
ENST00000683463.1:c.1074-506_1074-505del	ENSP00000507986.1:n.1074-506_1074-505del
ENST00000683548.1:n.1104+832_1104+833del
ENST00000683579.1:c.*1044+470_*1044+471del	ENSP00000506867.1:n.*1044+470_*1044+471del
ENST00000683587.1:n.1177+470_1177+471del
ENST00000683681.1:c.1146+470_1146+471del	ENSP00000508110.1:n.1146+470_1146+471del
ENST00000683735.1:c.*1044+470_*1044+471del	ENSP00000508336.1:n.*1044+470_*1044+471del
ENST00000683742.1:n.1447_1448del
ENST00000683853.1:c.1074-506_1074-505del	ENSP00000506834.1:n.1074-506_1074-505del
ENST00000683860.1:c.1146+470_1146+471del	ENSP00000507179.1:n.1146+470_1146+471del
ENST00000683884.1:c.1146+470_1146+471del	ENSP00000507004.1:n.1146+470_1146+471del
ENST00000684041.1:c.1146+470_1146+471del	ENSP00000508382.1:n.1146+470_1146+471del
ENST00000684125.1:c.1073+832_1073+833del	ENSP00000507320.1:n.1073+832_1073+833del
ENST00000684203.1:n.2912-506_2912-505del
ENST00000684231.1:c.*556+470_*556+471del	ENSP00000507748.1:n.*556+470_*556+471del
ENST00000684263.1:c.*86+470_*86+471del	ENSP00000508369.1:n.*86+470_*86+471del
ENST00000684305.1:c.1594+470_1594+471del	ENSP00000506819.1:n.1594+470_1594+471del
ENST00000684415.1:c.*14-506_*14-505del	ENSP00000507227.1:n.*14-506_*14-505del
ENST00000684520.1:c.1146+470_1146+471del	ENSP00000506826.1:n.1146+470_1146+471del
ENST00000684602.1:c.*812+470_*812+471del	ENSP00000507996.1:n.*812+470_*812+471del
ENST00000684667.1:c.1477+470_1477+471del	ENSP00000507003.1:n.1477+470_1477+471del
ENST00000268097.10:c.1146+470_1146+471del MANE Select	ENSP00000268097.6:n.1146+470_1146+471del
ENST00000268097.9:c.1146+470_1146+471del	ENSP00000268097.5:n.1146+470_1146+471del
ENST00000379915.4:c.413-891_413-890del	ENSP00000478716.1:n.413-891_413-890del
ENST00000563762.5:c.825+832_825+833del	ENSP00000456346.1:n.825+832_825+833del
ENST00000566304.5:c.1179+470_1179+471del	ENSP00000455114.1:n.1179+470_1179+471del
ENST00000566672.5:c.*556+470_*556+471del	ENSP00000457037.1:n.*556+470_*556+471del
ENST00000567027.5:c.945+832_945+833del
ENST00000567159.5:c.1146+470_1146+471del	ENSP00000456489.1:n.1146+470_1146+471del
ENST00000567411.5:c.*667+470_*667+471del	ENSP00000455545.1:n.*667+470_*667+471del
ENST00000568777.5:n.6550+470_6550+471del
ENST00000569410.5:c.1074-506_1074-505del	ENSP00000457125.1:n.1074-506_1074-505del
NM_000520.4:c.1146+470_1146+471del	NP_000511.2:n.1146+470_1146+471del
NM_000520.5:c.1146+470_1146+471del	NP_000511.2:n.1146+470_1146+471del
NM_001318825.1:c.1179+470_1179+471del	NP_001305754.1:n.1179+470_1179+471del
NR_134869.1:n.1574+832_1574+833del
NM_000520.6:c.1146+470_1146+471del MANE Select	NP_000511.2:n.1146+470_1146+471del
NM_001318825.2:c.1179+470_1179+471del	NP_001305754.1:n.1179+470_1179+471del
NR_134869.2:n.1115+832_1115+833del
NR_134869.3:n.1115+832_1115+833del