Canonical Allele Identifier: CA16044199
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 375362
ClinVar RCV Id: RCV000416471
dbSNP Id: rs1057519466

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346307del , CM000677.2:g.72346307del GRCh38
NC_000015.9:g.72638648del , CM000677.1:g.72638648del GRCh37
NC_000015.8:g.70425702del NCBI36
NG_009017.1:g.34873del
NG_009017.2:g.34873del

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.*9del ENSP00000457521.2:n.*9del
ENST00000682061.1:c.*1011del ENSP00000508316.1:n.*1011del
ENST00000682064.1:n.892del
ENST00000682177.1:c.1392del ENSP00000507409.1:n.1392del
ENST00000682235.1:n.688del
ENST00000682461.1:c.1455del ENSP00000507308.1:n.1455del
ENST00000682653.1:n.1669del
ENST00000682657.1:c.*502del ENSP00000507753.1:n.*502del
ENST00000682721.1:c.*1152del ENSP00000507535.1:n.*1152del
ENST00000682843.1:c.*990del ENSP00000508173.1:n.*990del
ENST00000683003.1:c.*502del ENSP00000507576.1:n.*502del
ENST00000683133.1:c.1533del ENSP00000508108.1:n.1533del
ENST00000683243.1:c.*502del ENSP00000507042.1:n.*502del
ENST00000683463.1:c.*154del ENSP00000507986.1:n.*154del
ENST00000683548.1:n.1123del
ENST00000683579.1:c.*1247del ENSP00000506867.1:n.*1247del
ENST00000683587.1:n.1196del
ENST00000683681.1:c.1349del ENSP00000508110.1:p.Ala450ValfsTer3
ENST00000683735.1:c.*1063del ENSP00000508336.1:n.*1063del
ENST00000683853.1:c.*154del ENSP00000506834.1:n.*154del
ENST00000683860.1:c.1349del ENSP00000507179.1:p.Ala450ValfsTer3
ENST00000683884.1:c.1165del ENSP00000507004.1:p.Leu389SerfsTer?
ENST00000684041.1:c.1349del ENSP00000508382.1:p.Ala450ValfsTer3
ENST00000684125.1:c.*9del ENSP00000507320.1:n.*9del
ENST00000684203.1:n.3114del
ENST00000684231.1:c.*759del ENSP00000507748.1:n.*759del
ENST00000684263.1:c.*289del ENSP00000508369.1:n.*289del
ENST00000684305.1:c.1797del ENSP00000506819.1:n.1797del
ENST00000684415.1:c.*216del ENSP00000507227.1:n.*216del
ENST00000684520.1:c.1349del ENSP00000506826.1:p.Ala450ValfsTer3
ENST00000684602.1:c.*1015del ENSP00000507996.1:n.*1015del
ENST00000684667.1:c.1680del ENSP00000507003.1:n.1680del
ENST00000268097.10:c.1349del MANE Select ENSP00000268097.6:p.Ala450ValfsTer3
ENST00000268097.9:c.1349del ENSP00000268097.5:p.Ala450ValfsTer3
ENST00000379915.4:c.431del ENSP00000478716.1:p.Ala144ValfsTer3
ENST00000563762.5:c.844del ENSP00000456346.1:n.844del
ENST00000566304.5:c.1382del ENSP00000455114.1:p.Ala461ValfsTer3
ENST00000566672.5:c.*759del ENSP00000457037.1:n.*759del
ENST00000567027.5:c.964del
ENST00000567159.5:c.1349del ENSP00000456489.1:p.Ala450ValfsTer3
ENST00000567411.5:c.*870del ENSP00000455545.1:n.*870del
ENST00000568777.5:n.6569del
ENST00000569410.5:c.*154del ENSP00000457125.1:n.*154del
NM_000520.4:c.1349del NP_000511.2:p.Ala450ValfsTer3
NM_000520.5:c.1349del NP_000511.2:p.Ala450ValfsTer3
NM_001318825.1:c.1382del NP_001305754.1:p.Ala461ValfsTer3
NR_134869.1:n.1593del
NM_000520.6:c.1349del MANE Select NP_000511.2:p.Ala450ValfsTer3
NM_001318825.2:c.1382del NP_001305754.1:p.Ala461ValfsTer3
NR_134869.2:n.1134del
NR_134869.3:n.1134del