Canonical Allele Identifier: CA2629341233
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346529del , CM000677.2:g.72346529del GRCh38
NC_000015.9:g.72638870del , CM000677.1:g.72638870del GRCh37
NC_000015.8:g.70425924del NCBI36
NG_009017.1:g.34652del
NG_009017.2:g.34652del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-203del ENSP00000457521.2:n.1074-203del
ENST00000682061.1:c.*991del ENSP00000508316.1:n.*991del
ENST00000682064.1:n.671del
ENST00000682177.1:c.1372del ENSP00000507409.1:n.1372del
ENST00000682235.1:n.668del
ENST00000682461.1:c.1435del ENSP00000507308.1:n.1435del
ENST00000682653.1:n.1649del
ENST00000682657.1:c.*484-203del ENSP00000507753.1:n.*484-203del
ENST00000682721.1:c.*1132del ENSP00000507535.1:n.*1132del
ENST00000682843.1:c.*972-203del ENSP00000508173.1:n.*972-203del
ENST00000683003.1:c.*484-203del ENSP00000507576.1:n.*484-203del
ENST00000683133.1:c.1513del ENSP00000508108.1:n.1513del
ENST00000683243.1:c.*484-203del ENSP00000507042.1:n.*484-203del
ENST00000683463.1:c.*134del ENSP00000507986.1:n.*134del
ENST00000683548.1:n.1105-203del
ENST00000683579.1:c.*1227del ENSP00000506867.1:n.*1227del
ENST00000683587.1:n.1178-203del
ENST00000683681.1:c.1329del ENSP00000508110.1:p.Gly444ValfsTer9
ENST00000683735.1:c.*1045-203del ENSP00000508336.1:n.*1045-203del
ENST00000683853.1:c.*134del ENSP00000506834.1:n.*134del
ENST00000683860.1:c.1329del ENSP00000507179.1:p.Gly444ValfsTer9
ENST00000683884.1:c.1147-203del ENSP00000507004.1:n.1147-203del
ENST00000684041.1:c.1329del ENSP00000508382.1:p.Gly444ValfsTer9
ENST00000684125.1:c.1074-203del ENSP00000507320.1:n.1074-203del
ENST00000684203.1:n.3094del
ENST00000684231.1:c.*739del ENSP00000507748.1:n.*739del
ENST00000684263.1:c.*269del ENSP00000508369.1:n.*269del
ENST00000684305.1:c.1777del ENSP00000506819.1:n.1777del
ENST00000684415.1:c.*196del ENSP00000507227.1:n.*196del
ENST00000684520.1:c.1329del ENSP00000506826.1:p.Gly444ValfsTer9
ENST00000684602.1:c.*995del ENSP00000507996.1:n.*995del
ENST00000684667.1:c.1660del ENSP00000507003.1:n.1660del
ENST00000268097.10:c.1329del MANE Select ENSP00000268097.6:p.Gly444ValfsTer9
ENST00000268097.9:c.1329del ENSP00000268097.5:p.Gly444ValfsTer9
ENST00000379915.4:c.413-203del ENSP00000478716.1:n.413-203del
ENST00000563762.5:c.826-203del ENSP00000456346.1:n.826-203del
ENST00000566304.5:c.1362del ENSP00000455114.1:p.Gly455ValfsTer9
ENST00000566672.5:c.*739del ENSP00000457037.1:n.*739del
ENST00000567027.5:c.946-203del
ENST00000567159.5:c.1329del ENSP00000456489.1:p.Gly444ValfsTer9
ENST00000567411.5:c.*850del ENSP00000455545.1:n.*850del
ENST00000568777.5:n.6551-203del
ENST00000569410.5:c.*134del ENSP00000457125.1:n.*134del
NM_000520.4:c.1329del NP_000511.2:p.Gly444ValfsTer9
NM_000520.5:c.1329del NP_000511.2:p.Gly444ValfsTer9
NM_001318825.1:c.1362del NP_001305754.1:p.Gly455ValfsTer9
NR_134869.1:n.1575-203del
NM_000520.6:c.1329del MANE Select NP_000511.2:p.Gly444ValfsTer9
NM_001318825.2:c.1362del NP_001305754.1:p.Gly455ValfsTer9
NR_134869.2:n.1116-203del
NR_134869.3:n.1116-203del