Canonical Allele Identifier: CA2629342637

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2731754
• ClinVar RCV Id: RCV003504438
• gnomAD v4: 15-72347738-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347739_72347740del , CM000677.2:g.72347739_72347740del	GRCh38
NC_000015.9:g.72640080_72640081del , CM000677.1:g.72640080_72640081del	GRCh37
NC_000015.8:g.70427134_70427135del	NCBI36
NG_009017.1:g.33440_33441del
NG_009017.2:g.33440_33441del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1073+308_1073+309del	ENSP00000457521.2:n.1073+308_1073+309del
ENST00000682061.1:c.*754_*755del	ENSP00000508316.1:n.*754_*755del
ENST00000682177.1:c.1135_1136del	ENSP00000507409.1:n.1135_1136del
ENST00000682461.1:c.1198_1199del	ENSP00000507308.1:n.1198_1199del
ENST00000682653.1:n.1412_1413del
ENST00000682657.1:c.*483+308_*483+309del	ENSP00000507753.1:n.*483+308_*483+309del
ENST00000682721.1:c.*895_*896del	ENSP00000507535.1:n.*895_*896del
ENST00000682843.1:c.*971+308_*971+309del	ENSP00000508173.1:n.*971+308_*971+309del
ENST00000683003.1:c.*483+308_*483+309del	ENSP00000507576.1:n.*483+308_*483+309del
ENST00000683133.1:c.1276_1277del	ENSP00000508108.1:n.1276_1277del
ENST00000683228.1:n.1123_1124del
ENST00000683243.1:c.*483+308_*483+309del	ENSP00000507042.1:n.*483+308_*483+309del
ENST00000683463.1:c.1073+308_1073+309del	ENSP00000507986.1:n.1073+308_1073+309del
ENST00000683548.1:n.1104+308_1104+309del
ENST00000683579.1:c.*990_*991del	ENSP00000506867.1:n.*990_*991del
ENST00000683587.1:n.1123_1124del
ENST00000683681.1:c.1092_1093del	ENSP00000508110.1:p.Ser365LeufsTer13
ENST00000683735.1:c.*990_*991del	ENSP00000508336.1:n.*990_*991del
ENST00000683742.1:n.923_924del
ENST00000683853.1:c.1073+308_1073+309del	ENSP00000506834.1:n.1073+308_1073+309del
ENST00000683860.1:c.1092_1093del	ENSP00000507179.1:p.Ser365LeufsTer13
ENST00000683884.1:c.1092_1093del	ENSP00000507004.1:p.Ser365LeufsTer13
ENST00000684041.1:c.1092_1093del	ENSP00000508382.1:p.Ser365LeufsTer13
ENST00000684125.1:c.1073+308_1073+309del	ENSP00000507320.1:n.1073+308_1073+309del
ENST00000684203.1:n.2911+308_2911+309del
ENST00000684231.1:c.*502_*503del	ENSP00000507748.1:n.*502_*503del
ENST00000684263.1:c.*32_*33del	ENSP00000508369.1:n.*32_*33del
ENST00000684305.1:c.1540_1541del	ENSP00000506819.1:n.1540_1541del
ENST00000684415.1:c.*13+291_*13+292del	ENSP00000507227.1:n.*13+291_*13+292del
ENST00000684520.1:c.1092_1093del	ENSP00000506826.1:p.Ser365LeufsTer13
ENST00000684602.1:c.*758_*759del	ENSP00000507996.1:n.*758_*759del
ENST00000684667.1:c.1423_1424del	ENSP00000507003.1:n.1423_1424del
ENST00000268097.10:c.1092_1093del MANE Select	ENSP00000268097.6:p.Ser365LeufsTer13
ENST00000268097.9:c.1092_1093del	ENSP00000268097.5:p.Ser365LeufsTer13
ENST00000379915.4:c.413-1415_413-1414del	ENSP00000478716.1:n.413-1415_413-1414del
ENST00000563762.5:c.825+308_825+309del	ENSP00000456346.1:n.825+308_825+309del
ENST00000566304.5:c.1125_1126del	ENSP00000455114.1:p.Ser376LeufsTer13
ENST00000566672.5:c.*502_*503del	ENSP00000457037.1:n.*502_*503del
ENST00000567027.5:c.945+308_945+309del
ENST00000567159.5:c.1092_1093del	ENSP00000456489.1:p.Ser365LeufsTer13
ENST00000567411.5:c.*613_*614del	ENSP00000455545.1:n.*613_*614del
ENST00000568777.5:n.6496_6497del
ENST00000569410.5:c.1073+308_1073+309del	ENSP00000457125.1:n.1073+308_1073+309del
NM_000520.4:c.1092_1093del	NP_000511.2:p.Ser365LeufsTer13
NM_000520.5:c.1092_1093del	NP_000511.2:p.Ser365LeufsTer13
NM_001318825.1:c.1125_1126del	NP_001305754.1:p.Ser376LeufsTer13
NR_134869.1:n.1574+308_1574+309del
NM_000520.6:c.1092_1093del MANE Select	NP_000511.2:p.Ser365LeufsTer13
NM_001318825.2:c.1125_1126del	NP_001305754.1:p.Ser376LeufsTer13
NR_134869.2:n.1115+308_1115+309del
NR_134869.3:n.1115+308_1115+309del