Canonical Allele Identifier: CA971330892

Gene: HEXA

Linked Data

• gnomAD v3: 15-72347311-TGCCCAGGG-T
• gnomAD v4: 15-72347311-TGCCCAGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347312_72347319del , CM000677.2:g.72347312_72347319del	GRCh38
NC_000015.9:g.72639653_72639660del , CM000677.1:g.72639653_72639660del	GRCh37
NC_000015.8:g.70426707_70426714del	NCBI36
NG_009017.1:g.33861_33868del
NG_009017.2:g.33861_33868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+729_1073+736del	ENSP00000457521.2:n.1073+729_1073+736del
ENST00000682061.1:c.*808+367_*808+374del	ENSP00000508316.1:n.*808+367_*808+374del
ENST00000682177.1:c.1189+367_1189+374del	ENSP00000507409.1:n.1189+367_1189+374del
ENST00000682461.1:c.1252+367_1252+374del	ENSP00000507308.1:n.1252+367_1252+374del
ENST00000682653.1:n.1466+367_1466+374del
ENST00000682657.1:c.*483+729_*483+736del	ENSP00000507753.1:n.*483+729_*483+736del
ENST00000682721.1:c.*949+367_*949+374del	ENSP00000507535.1:n.*949+367_*949+374del
ENST00000682843.1:c.*971+729_*971+736del	ENSP00000508173.1:n.*971+729_*971+736del
ENST00000683003.1:c.*483+729_*483+736del	ENSP00000507576.1:n.*483+729_*483+736del
ENST00000683133.1:c.1330+367_1330+374del	ENSP00000508108.1:n.1330+367_1330+374del
ENST00000683228.1:n.1544_1551del
ENST00000683243.1:c.*483+729_*483+736del	ENSP00000507042.1:n.*483+729_*483+736del
ENST00000683463.1:c.1074-609_1074-602del	ENSP00000507986.1:n.1074-609_1074-602del
ENST00000683548.1:n.1104+729_1104+736del
ENST00000683579.1:c.*1044+367_*1044+374del	ENSP00000506867.1:n.*1044+367_*1044+374del
ENST00000683587.1:n.1177+367_1177+374del
ENST00000683681.1:c.1146+367_1146+374del	ENSP00000508110.1:n.1146+367_1146+374del
ENST00000683735.1:c.*1044+367_*1044+374del	ENSP00000508336.1:n.*1044+367_*1044+374del
ENST00000683742.1:n.1344_1351del
ENST00000683853.1:c.1074-609_1074-602del	ENSP00000506834.1:n.1074-609_1074-602del
ENST00000683860.1:c.1146+367_1146+374del	ENSP00000507179.1:n.1146+367_1146+374del
ENST00000683884.1:c.1146+367_1146+374del	ENSP00000507004.1:n.1146+367_1146+374del
ENST00000684041.1:c.1146+367_1146+374del	ENSP00000508382.1:n.1146+367_1146+374del
ENST00000684125.1:c.1073+729_1073+736del	ENSP00000507320.1:n.1073+729_1073+736del
ENST00000684203.1:n.2912-609_2912-602del
ENST00000684231.1:c.*556+367_*556+374del	ENSP00000507748.1:n.*556+367_*556+374del
ENST00000684263.1:c.*86+367_*86+374del	ENSP00000508369.1:n.*86+367_*86+374del
ENST00000684305.1:c.1594+367_1594+374del	ENSP00000506819.1:n.1594+367_1594+374del
ENST00000684415.1:c.*14-609_*14-602del	ENSP00000507227.1:n.*14-609_*14-602del
ENST00000684520.1:c.1146+367_1146+374del	ENSP00000506826.1:n.1146+367_1146+374del
ENST00000684602.1:c.*812+367_*812+374del	ENSP00000507996.1:n.*812+367_*812+374del
ENST00000684667.1:c.1477+367_1477+374del	ENSP00000507003.1:n.1477+367_1477+374del
ENST00000268097.10:c.1146+367_1146+374del MANE Select	ENSP00000268097.6:n.1146+367_1146+374del
ENST00000268097.9:c.1146+367_1146+374del	ENSP00000268097.5:n.1146+367_1146+374del
ENST00000379915.4:c.413-994_413-987del	ENSP00000478716.1:n.413-994_413-987del
ENST00000563762.5:c.825+729_825+736del	ENSP00000456346.1:n.825+729_825+736del
ENST00000566304.5:c.1179+367_1179+374del	ENSP00000455114.1:n.1179+367_1179+374del
ENST00000566672.5:c.*556+367_*556+374del	ENSP00000457037.1:n.*556+367_*556+374del
ENST00000567027.5:c.945+729_945+736del
ENST00000567159.5:c.1146+367_1146+374del	ENSP00000456489.1:n.1146+367_1146+374del
ENST00000567411.5:c.*667+367_*667+374del	ENSP00000455545.1:n.*667+367_*667+374del
ENST00000568777.5:n.6550+367_6550+374del
ENST00000569410.5:c.1074-609_1074-602del	ENSP00000457125.1:n.1074-609_1074-602del
NM_000520.4:c.1146+367_1146+374del	NP_000511.2:n.1146+367_1146+374del
NM_000520.5:c.1146+367_1146+374del	NP_000511.2:n.1146+367_1146+374del
NM_001318825.1:c.1179+367_1179+374del	NP_001305754.1:n.1179+367_1179+374del
NR_134869.1:n.1574+729_1574+736del
NM_000520.6:c.1146+367_1146+374del MANE Select	NP_000511.2:n.1146+367_1146+374del
NM_001318825.2:c.1179+367_1179+374del	NP_001305754.1:n.1179+367_1179+374del
NR_134869.2:n.1115+729_1115+736del
NR_134869.3:n.1115+729_1115+736del