Canonical Allele Identifier: CA2739269539
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2837025
ClinVar RCV Id: RCV003608718

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346293del , CM000677.2:g.72346293del GRCh38
NC_000015.9:g.72638634del , CM000677.1:g.72638634del GRCh37
NC_000015.8:g.70425688del NCBI36
NG_009017.1:g.34888del
NG_009017.2:g.34888del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*24del ENSP00000457521.2:n.*24del
ENST00000682061.1:c.*1026del ENSP00000508316.1:n.*1026del
ENST00000682064.1:n.907del
ENST00000682177.1:c.1407del ENSP00000507409.1:n.1407del
ENST00000682235.1:n.703del
ENST00000682461.1:c.1470del ENSP00000507308.1:n.1470del
ENST00000682653.1:n.1684del
ENST00000682657.1:c.*517del ENSP00000507753.1:n.*517del
ENST00000682721.1:c.*1167del ENSP00000507535.1:n.*1167del
ENST00000682843.1:c.*1005del ENSP00000508173.1:n.*1005del
ENST00000683003.1:c.*517del ENSP00000507576.1:n.*517del
ENST00000683133.1:c.1548del ENSP00000508108.1:n.1548del
ENST00000683243.1:c.*517del ENSP00000507042.1:n.*517del
ENST00000683463.1:c.*169del ENSP00000507986.1:n.*169del
ENST00000683548.1:n.1138del
ENST00000683579.1:c.*1262del ENSP00000506867.1:n.*1262del
ENST00000683587.1:n.1211del
ENST00000683681.1:c.1364del ENSP00000508110.1:p.Gly455GlufsTer?
ENST00000683735.1:c.*1078del ENSP00000508336.1:n.*1078del
ENST00000683853.1:c.*169del ENSP00000506834.1:n.*169del
ENST00000683860.1:c.1364del ENSP00000507179.1:p.Gly455GlufsTer?
ENST00000683884.1:c.*7del ENSP00000507004.1:n.*7del
ENST00000684041.1:c.1364del ENSP00000508382.1:p.Gly455GlufsTer?
ENST00000684125.1:c.*24del ENSP00000507320.1:n.*24del
ENST00000684203.1:n.3129del
ENST00000684231.1:c.*774del ENSP00000507748.1:n.*774del
ENST00000684263.1:c.*304del ENSP00000508369.1:n.*304del
ENST00000684305.1:c.1812del ENSP00000506819.1:n.1812del
ENST00000684415.1:c.*231del ENSP00000507227.1:n.*231del
ENST00000684520.1:c.1364del ENSP00000506826.1:p.Gly455GlufsTer?
ENST00000684602.1:c.*1030del ENSP00000507996.1:n.*1030del
ENST00000684667.1:c.1695del ENSP00000507003.1:n.1695del
ENST00000268097.10:c.1364del MANE Select ENSP00000268097.6:p.Gly455GlufsTer?
ENST00000268097.9:c.1364del ENSP00000268097.5:p.Gly455GlufsTer?
ENST00000379915.4:c.446del ENSP00000478716.1:p.Gly149GlufsTer?
ENST00000563762.5:c.859del ENSP00000456346.1:n.859del
ENST00000566304.5:c.1397del ENSP00000455114.1:p.Gly466GlufsTer?
ENST00000566672.5:c.*774del ENSP00000457037.1:n.*774del
ENST00000567027.5:c.979del
ENST00000567159.5:c.1364del ENSP00000456489.1:p.Gly455GlufsTer?
ENST00000567411.5:c.*885del ENSP00000455545.1:n.*885del
ENST00000568777.5:n.6584del
ENST00000569410.5:c.*169del ENSP00000457125.1:n.*169del
NM_000520.4:c.1364del NP_000511.2:p.Gly455GlufsTer?
NM_000520.5:c.1364del NP_000511.2:p.Gly455GlufsTer?
NM_001318825.1:c.1397del NP_001305754.1:p.Gly466GlufsTer?
NR_134869.1:n.1608del
NM_000520.6:c.1364del MANE Select NP_000511.2:p.Gly455GlufsTer?
NM_001318825.2:c.1397del NP_001305754.1:p.Gly466GlufsTer?
NR_134869.2:n.1149del
NR_134869.3:n.1149del