Canonical Allele Identifier: CA2804699957
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346594del , CM000677.2:g.72346594del GRCh38
NC_000015.9:g.72638935del , CM000677.1:g.72638935del GRCh37
NC_000015.8:g.70425989del NCBI36
NG_009017.1:g.34587del
NG_009017.2:g.34587del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1074-268del ENSP00000457521.2:n.1074-268del
ENST00000682061.1:c.*926del ENSP00000508316.1:n.*926del
ENST00000682064.1:n.606del
ENST00000682177.1:c.1307del ENSP00000507409.1:n.1307del
ENST00000682235.1:n.603del
ENST00000682461.1:c.1370del ENSP00000507308.1:n.1370del
ENST00000682653.1:n.1584del
ENST00000682657.1:c.*484-268del ENSP00000507753.1:n.*484-268del
ENST00000682721.1:c.*1067del ENSP00000507535.1:n.*1067del
ENST00000682843.1:c.*972-268del ENSP00000508173.1:n.*972-268del
ENST00000683003.1:c.*484-268del ENSP00000507576.1:n.*484-268del
ENST00000683133.1:c.1448del ENSP00000508108.1:n.1448del
ENST00000683243.1:c.*484-268del ENSP00000507042.1:n.*484-268del
ENST00000683463.1:c.*69del ENSP00000507986.1:n.*69del
ENST00000683548.1:n.1105-268del
ENST00000683579.1:c.*1162del ENSP00000506867.1:n.*1162del
ENST00000683587.1:n.1178-268del
ENST00000683681.1:c.1264del ENSP00000508110.1:p.Leu422Ter
ENST00000683735.1:c.*1045-268del ENSP00000508336.1:n.*1045-268del
ENST00000683853.1:c.*69del ENSP00000506834.1:n.*69del
ENST00000683860.1:c.1264del ENSP00000507179.1:p.Leu422Ter
ENST00000683884.1:c.1147-268del ENSP00000507004.1:n.1147-268del
ENST00000684041.1:c.1264del ENSP00000508382.1:p.Leu422Ter
ENST00000684125.1:c.1074-268del ENSP00000507320.1:n.1074-268del
ENST00000684203.1:n.3029del
ENST00000684231.1:c.*674del ENSP00000507748.1:n.*674del
ENST00000684263.1:c.*204del ENSP00000508369.1:n.*204del
ENST00000684305.1:c.1712del ENSP00000506819.1:n.1712del
ENST00000684415.1:c.*131del ENSP00000507227.1:n.*131del
ENST00000684520.1:c.1264del ENSP00000506826.1:p.Leu422Ter
ENST00000684602.1:c.*930del ENSP00000507996.1:n.*930del
ENST00000684667.1:c.1595del ENSP00000507003.1:n.1595del
ENST00000268097.10:c.1264del MANE Select ENSP00000268097.6:p.Leu422Ter
ENST00000268097.9:c.1264del ENSP00000268097.5:p.Leu422Ter
ENST00000379915.4:c.413-268del ENSP00000478716.1:n.413-268del
ENST00000563762.5:c.826-268del ENSP00000456346.1:n.826-268del
ENST00000566304.5:c.1297del ENSP00000455114.1:p.Leu433Ter
ENST00000566672.5:c.*674del ENSP00000457037.1:n.*674del
ENST00000567027.5:c.946-268del
ENST00000567159.5:c.1264del ENSP00000456489.1:p.Leu422Ter
ENST00000567411.5:c.*785del ENSP00000455545.1:n.*785del
ENST00000568777.5:n.6551-268del
ENST00000569410.5:c.*69del ENSP00000457125.1:n.*69del
NM_000520.4:c.1264del NP_000511.2:p.Leu422Ter
NM_000520.5:c.1264del NP_000511.2:p.Leu422Ter
NM_001318825.1:c.1297del NP_001305754.1:p.Leu433Ter
NR_134869.1:n.1575-268del
NM_000520.6:c.1264del MANE Select NP_000511.2:p.Leu422Ter
NM_001318825.2:c.1297del NP_001305754.1:p.Leu433Ter
NR_134869.2:n.1116-268del
NR_134869.3:n.1116-268del