Canonical Allele Identifier: CA971330866

Gene: HEXA

Linked Data

• gnomAD v3: 15-72347263-TCA-T
• gnomAD v4: 15-72347263-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347264_72347265del , CM000677.2:g.72347264_72347265del	GRCh38
NC_000015.9:g.72639605_72639606del , CM000677.1:g.72639605_72639606del	GRCh37
NC_000015.8:g.70426659_70426660del	NCBI36
NG_009017.1:g.33915_33916del
NG_009017.2:g.33915_33916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+783_1073+784del	ENSP00000457521.2:n.1073+783_1073+784del
ENST00000682061.1:c.*808+421_*808+422del	ENSP00000508316.1:n.*808+421_*808+422del
ENST00000682177.1:c.1189+421_1189+422del	ENSP00000507409.1:n.1189+421_1189+422del
ENST00000682461.1:c.1252+421_1252+422del	ENSP00000507308.1:n.1252+421_1252+422del
ENST00000682653.1:n.1466+421_1466+422del
ENST00000682657.1:c.*483+783_*483+784del	ENSP00000507753.1:n.*483+783_*483+784del
ENST00000682721.1:c.*949+421_*949+422del	ENSP00000507535.1:n.*949+421_*949+422del
ENST00000682843.1:c.*971+783_*971+784del	ENSP00000508173.1:n.*971+783_*971+784del
ENST00000683003.1:c.*483+783_*483+784del	ENSP00000507576.1:n.*483+783_*483+784del
ENST00000683133.1:c.1330+421_1330+422del	ENSP00000508108.1:n.1330+421_1330+422del
ENST00000683228.1:n.1598_1599del
ENST00000683243.1:c.*483+783_*483+784del	ENSP00000507042.1:n.*483+783_*483+784del
ENST00000683463.1:c.1074-555_1074-554del	ENSP00000507986.1:n.1074-555_1074-554del
ENST00000683548.1:n.1104+783_1104+784del
ENST00000683579.1:c.*1044+421_*1044+422del	ENSP00000506867.1:n.*1044+421_*1044+422del
ENST00000683587.1:n.1177+421_1177+422del
ENST00000683681.1:c.1146+421_1146+422del	ENSP00000508110.1:n.1146+421_1146+422del
ENST00000683735.1:c.*1044+421_*1044+422del	ENSP00000508336.1:n.*1044+421_*1044+422del
ENST00000683742.1:n.1398_1399del
ENST00000683853.1:c.1074-555_1074-554del	ENSP00000506834.1:n.1074-555_1074-554del
ENST00000683860.1:c.1146+421_1146+422del	ENSP00000507179.1:n.1146+421_1146+422del
ENST00000683884.1:c.1146+421_1146+422del	ENSP00000507004.1:n.1146+421_1146+422del
ENST00000684041.1:c.1146+421_1146+422del	ENSP00000508382.1:n.1146+421_1146+422del
ENST00000684125.1:c.1073+783_1073+784del	ENSP00000507320.1:n.1073+783_1073+784del
ENST00000684203.1:n.2912-555_2912-554del
ENST00000684231.1:c.*556+421_*556+422del	ENSP00000507748.1:n.*556+421_*556+422del
ENST00000684263.1:c.*86+421_*86+422del	ENSP00000508369.1:n.*86+421_*86+422del
ENST00000684305.1:c.1594+421_1594+422del	ENSP00000506819.1:n.1594+421_1594+422del
ENST00000684415.1:c.*14-555_*14-554del	ENSP00000507227.1:n.*14-555_*14-554del
ENST00000684520.1:c.1146+421_1146+422del	ENSP00000506826.1:n.1146+421_1146+422del
ENST00000684602.1:c.*812+421_*812+422del	ENSP00000507996.1:n.*812+421_*812+422del
ENST00000684667.1:c.1477+421_1477+422del	ENSP00000507003.1:n.1477+421_1477+422del
ENST00000268097.10:c.1146+421_1146+422del MANE Select	ENSP00000268097.6:n.1146+421_1146+422del
ENST00000268097.9:c.1146+421_1146+422del	ENSP00000268097.5:n.1146+421_1146+422del
ENST00000379915.4:c.413-940_413-939del	ENSP00000478716.1:n.413-940_413-939del
ENST00000563762.5:c.825+783_825+784del	ENSP00000456346.1:n.825+783_825+784del
ENST00000566304.5:c.1179+421_1179+422del	ENSP00000455114.1:n.1179+421_1179+422del
ENST00000566672.5:c.*556+421_*556+422del	ENSP00000457037.1:n.*556+421_*556+422del
ENST00000567027.5:c.945+783_945+784del
ENST00000567159.5:c.1146+421_1146+422del	ENSP00000456489.1:n.1146+421_1146+422del
ENST00000567411.5:c.*667+421_*667+422del	ENSP00000455545.1:n.*667+421_*667+422del
ENST00000568777.5:n.6550+421_6550+422del
ENST00000569410.5:c.1074-555_1074-554del	ENSP00000457125.1:n.1074-555_1074-554del
NM_000520.4:c.1146+421_1146+422del	NP_000511.2:n.1146+421_1146+422del
NM_000520.5:c.1146+421_1146+422del	NP_000511.2:n.1146+421_1146+422del
NM_001318825.1:c.1179+421_1179+422del	NP_001305754.1:n.1179+421_1179+422del
NR_134869.1:n.1574+783_1574+784del
NM_000520.6:c.1146+421_1146+422del MANE Select	NP_000511.2:n.1146+421_1146+422del
NM_001318825.2:c.1179+421_1179+422del	NP_001305754.1:n.1179+421_1179+422del
NR_134869.2:n.1115+783_1115+784del
NR_134869.3:n.1115+783_1115+784del