Canonical Allele Identifier: CA2998997139
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345486del , CM000677.2:g.72345486del GRCh38
NC_000015.9:g.72637827del , CM000677.1:g.72637827del GRCh37
NC_000015.8:g.70424881del NCBI36
NG_009017.1:g.35694del
NG_009017.2:g.35694del

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.*146del ENSP00000457521.2:n.*146del
ENST00000682061.1:c.*1832del ENSP00000508316.1:n.*1832del
ENST00000682064.1:n.1713del
ENST00000682177.1:c.1529del ENSP00000507409.1:n.1529del
ENST00000682235.1:n.1509del
ENST00000682461.1:c.1592del ENSP00000507308.1:n.1592del
ENST00000682653.1:n.2490del
ENST00000682657.1:c.*1323del ENSP00000507753.1:n.*1323del
ENST00000682721.1:c.*1289del ENSP00000507535.1:n.*1289del
ENST00000682843.1:c.*1127del ENSP00000508173.1:n.*1127del
ENST00000683003.1:c.*1323del ENSP00000507576.1:n.*1323del
ENST00000683133.1:c.1670del ENSP00000508108.1:n.1670del
ENST00000683243.1:c.*639del ENSP00000507042.1:n.*639del
ENST00000683463.1:c.*975del ENSP00000507986.1:n.*975del
ENST00000683548.1:n.1944del
ENST00000683579.1:c.*1384del ENSP00000506867.1:n.*1384del
ENST00000683587.1:n.2017del
ENST00000683681.1:c.*164del ENSP00000508110.1:n.*164del
ENST00000683735.1:c.*1884del ENSP00000508336.1:n.*1884del
ENST00000683853.1:c.*291del ENSP00000506834.1:n.*291del
ENST00000683860.1:c.*606del ENSP00000507179.1:n.*606del
ENST00000683884.1:c.*813del ENSP00000507004.1:n.*813del
ENST00000684041.1:c.*619del ENSP00000508382.1:n.*619del
ENST00000684125.1:c.*146del ENSP00000507320.1:n.*146del
ENST00000684203.1:n.3935del
ENST00000684231.1:c.*896del ENSP00000507748.1:n.*896del
ENST00000684263.1:c.*1110del ENSP00000508369.1:n.*1110del
ENST00000684305.1:c.1934del ENSP00000506819.1:n.1934del
ENST00000684415.1:c.*1037del ENSP00000507227.1:n.*1037del
ENST00000684520.1:c.*745del ENSP00000506826.1:n.*745del
ENST00000684602.1:c.*1152del ENSP00000507996.1:n.*1152del
ENST00000684667.1:c.1817del ENSP00000507003.1:n.1817del
ENST00000268097.10:c.1486del MANE Select ENSP00000268097.6:p.Ala496ProfsTer13
ENST00000268097.9:c.1486del ENSP00000268097.5:p.Ala496ProfsTer13
ENST00000379915.4:c.568del ENSP00000478716.1:p.Ala190ProfsTer13
ENST00000564677.5:n.278del
ENST00000565873.1:n.397del
ENST00000566304.5:c.1519del ENSP00000455114.1:p.Ala507ProfsTer13
ENST00000567027.5:c.1101del
ENST00000567159.5:c.1486del ENSP00000456489.1:p.Ala496ProfsTer13
ENST00000567411.5:c.*1007del ENSP00000455545.1:n.*1007del
ENST00000568777.5:n.6706del
ENST00000569116.1:n.193del
NM_000520.4:c.1486del NP_000511.2:p.Ala496ProfsTer13
NM_000520.5:c.1486del NP_000511.2:p.Ala496ProfsTer13
NM_001318825.1:c.1519del NP_001305754.1:p.Ala507ProfsTer13
NR_134869.1:n.1730del
NM_000520.6:c.1486del MANE Select NP_000511.2:p.Ala496ProfsTer13
NM_001318825.2:c.1519del NP_001305754.1:p.Ala507ProfsTer13
NR_134869.2:n.1271del
NR_134869.3:n.1271del