Canonical Allele Identifier: CA915946067

Gene: HEXA

Linked Data

• ClinVar Variation Id: 817101
• ClinVar RCV Id: RCV001008201
• dbSNP Id: rs1595798033

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72347691_72347695del , CM000677.2:g.72347691_72347695del	GRCh38
NC_000015.9:g.72640032_72640036del , CM000677.1:g.72640032_72640036del	GRCh37
NC_000015.8:g.70427086_70427090del	NCBI36
NG_009017.1:g.33490_33494del
NG_009017.2:g.33490_33494del

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.1073+358_1073+362del	ENSP00000457521.2:n.1073+358_1073+362del
ENST00000682061.1:c.*804_*808del	ENSP00000508316.1:n.*804_*808del
ENST00000682177.1:c.1185_1189del	ENSP00000507409.1:n.1185_1189del
ENST00000682461.1:c.1248_1252del	ENSP00000507308.1:n.1248_1252del
ENST00000682653.1:n.1462_1466del
ENST00000682657.1:c.*483+358_*483+362del	ENSP00000507753.1:n.*483+358_*483+362del
ENST00000682721.1:c.*945_*949del	ENSP00000507535.1:n.*945_*949del
ENST00000682843.1:c.*971+358_*971+362del	ENSP00000508173.1:n.*971+358_*971+362del
ENST00000683003.1:c.*483+358_*483+362del	ENSP00000507576.1:n.*483+358_*483+362del
ENST00000683133.1:c.1326_1330del	ENSP00000508108.1:n.1326_1330del
ENST00000683228.1:n.1173_1177del
ENST00000683243.1:c.*483+358_*483+362del	ENSP00000507042.1:n.*483+358_*483+362del
ENST00000683463.1:c.1073+358_1073+362del	ENSP00000507986.1:n.1073+358_1073+362del
ENST00000683548.1:n.1104+358_1104+362del
ENST00000683579.1:c.*1040_*1044del	ENSP00000506867.1:n.*1040_*1044del
ENST00000683587.1:n.1173_1177del
ENST00000683681.1:c.1142_1146del	ENSP00000508110.1:p.Val381AspfsTer?
ENST00000683735.1:c.*1040_*1044del	ENSP00000508336.1:n.*1040_*1044del
ENST00000683742.1:n.973_977del
ENST00000683853.1:c.1073+358_1073+362del	ENSP00000506834.1:n.1073+358_1073+362del
ENST00000683860.1:c.1142_1146del	ENSP00000507179.1:p.Val381AspfsTer?
ENST00000683884.1:c.1142_1146del	ENSP00000507004.1:p.Val381GlyfsTer?
ENST00000684041.1:c.1142_1146del	ENSP00000508382.1:p.Val381AspfsTer?
ENST00000684125.1:c.1073+358_1073+362del	ENSP00000507320.1:n.1073+358_1073+362del
ENST00000684203.1:n.2911+358_2911+362del
ENST00000684231.1:c.*552_*556del	ENSP00000507748.1:n.*552_*556del
ENST00000684263.1:c.*82_*86del	ENSP00000508369.1:n.*82_*86del
ENST00000684305.1:c.1590_1594del	ENSP00000506819.1:n.1590_1594del
ENST00000684415.1:c.*13+341_*13+345del	ENSP00000507227.1:n.*13+341_*13+345del
ENST00000684520.1:c.1142_1146del	ENSP00000506826.1:p.Val381AspfsTer?
ENST00000684602.1:c.*808_*812del	ENSP00000507996.1:n.*808_*812del
ENST00000684667.1:c.1473_1477del	ENSP00000507003.1:n.1473_1477del
ENST00000268097.10:c.1142_1146del MANE Select	ENSP00000268097.6:p.Val381AspfsTer?
ENST00000268097.9:c.1142_1146del	ENSP00000268097.5:p.Val381AspfsTer?
ENST00000379915.4:c.413-1365_413-1361del	ENSP00000478716.1:n.413-1365_413-1361del
ENST00000563762.5:c.825+358_825+362del	ENSP00000456346.1:n.825+358_825+362del
ENST00000566304.5:c.1175_1179del	ENSP00000455114.1:p.Val392AspfsTer?
ENST00000566672.5:c.*552_*556del	ENSP00000457037.1:n.*552_*556del
ENST00000567027.5:c.945+358_945+362del
ENST00000567159.5:c.1142_1146del	ENSP00000456489.1:p.Val381AspfsTer?
ENST00000567411.5:c.*663_*667del	ENSP00000455545.1:n.*663_*667del
ENST00000568777.5:n.6546_6550del
ENST00000569410.5:c.1073+358_1073+362del	ENSP00000457125.1:n.1073+358_1073+362del
NM_000520.4:c.1142_1146del	NP_000511.2:p.Val381AspfsTer?
NM_000520.5:c.1142_1146del	NP_000511.2:p.Val381AspfsTer?
NM_001318825.1:c.1175_1179del	NP_001305754.1:p.Val392AspfsTer?
NR_134869.1:n.1574+358_1574+362del
NM_000520.6:c.1142_1146del MANE Select	NP_000511.2:p.Val381AspfsTer?
NM_001318825.2:c.1175_1179del	NP_001305754.1:p.Val392AspfsTer?
NR_134869.2:n.1115+358_1115+362del
NR_134869.3:n.1115+358_1115+362del