Canonical Allele Identifier: CA2186744239
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72347691_72347692delinsCT , CM000677.2:g.72347691_72347692delinsCT GRCh38
NC_000015.9:g.72640032_72640033delinsCT , CM000677.1:g.72640032_72640033delinsCT GRCh37
NC_000015.8:g.70427086_70427087delinsCT NCBI36
NG_009017.1:g.33488_33489delinsAG
NG_009017.2:g.33488_33489delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.1073+356_1073+357delinsAG ENSP00000457521.2:n.1073+356_1073+357delinsAG
ENST00000682061.1:c.*802_*803delinsAG ENSP00000508316.1:n.*802_*803delinsAG
ENST00000682177.1:c.1183_1184delinsAG ENSP00000507409.1:n.1183_1184delinsAG
ENST00000682461.1:c.1246_1247delinsAG ENSP00000507308.1:n.1246_1247delinsAG
ENST00000682653.1:n.1460_1461delinsAG
ENST00000682657.1:c.*483+356_*483+357delinsAG ENSP00000507753.1:n.*483+356_*483+357delinsAG
ENST00000682721.1:c.*943_*944delinsAG ENSP00000507535.1:n.*943_*944delinsAG
ENST00000682843.1:c.*971+356_*971+357delinsAG ENSP00000508173.1:n.*971+356_*971+357delinsAG
ENST00000683003.1:c.*483+356_*483+357delinsAG ENSP00000507576.1:n.*483+356_*483+357delinsAG
ENST00000683133.1:c.1324_1325delinsAG ENSP00000508108.1:n.1324_1325delinsAG
ENST00000683228.1:n.1171_1172delinsAG
ENST00000683243.1:c.*483+356_*483+357delinsAG ENSP00000507042.1:n.*483+356_*483+357delinsAG
ENST00000683463.1:c.1073+356_1073+357delinsAG ENSP00000507986.1:n.1073+356_1073+357delinsAG
ENST00000683548.1:n.1104+356_1104+357delinsAG
ENST00000683579.1:c.*1038_*1039delinsAG ENSP00000506867.1:n.*1038_*1039delinsAG
ENST00000683587.1:n.1171_1172delinsAG
ENST00000683681.1:c.1140_1141delinsAG ENSP00000508110.1:p.Lys380=
ENST00000683735.1:c.*1038_*1039delinsAG ENSP00000508336.1:n.*1038_*1039delinsAG
ENST00000683742.1:n.971_972delinsAG
ENST00000683853.1:c.1073+356_1073+357delinsAG ENSP00000506834.1:n.1073+356_1073+357delinsAG
ENST00000683860.1:c.1140_1141delinsAG ENSP00000507179.1:p.Lys380=
ENST00000683884.1:c.1140_1141delinsAG ENSP00000507004.1:p.Lys380=
ENST00000684041.1:c.1140_1141delinsAG ENSP00000508382.1:p.Lys380=
ENST00000684125.1:c.1073+356_1073+357delinsAG ENSP00000507320.1:n.1073+356_1073+357delinsAG
ENST00000684203.1:n.2911+356_2911+357delinsAG
ENST00000684231.1:c.*550_*551delinsAG ENSP00000507748.1:n.*550_*551delinsAG
ENST00000684263.1:c.*80_*81delinsAG ENSP00000508369.1:n.*80_*81delinsAG
ENST00000684305.1:c.1588_1589delinsAG ENSP00000506819.1:n.1588_1589delinsAG
ENST00000684415.1:c.*13+339_*13+340delinsAG ENSP00000507227.1:n.*13+339_*13+340delinsAG
ENST00000684520.1:c.1140_1141delinsAG ENSP00000506826.1:p.Lys380=
ENST00000684602.1:c.*806_*807delinsAG ENSP00000507996.1:n.*806_*807delinsAG
ENST00000684667.1:c.1471_1472delinsAG ENSP00000507003.1:n.1471_1472delinsAG
ENST00000268097.10:c.1140_1141delinsAG MANE Select ENSP00000268097.6:p.Lys380=
ENST00000268097.9:c.1140_1141delinsAG ENSP00000268097.5:p.Lys380=
ENST00000379915.4:c.413-1367_413-1366delinsAG ENSP00000478716.1:n.413-1367_413-1366delinsAG
ENST00000563762.5:c.825+356_825+357delinsAG ENSP00000456346.1:n.825+356_825+357delinsAG
ENST00000566304.5:c.1173_1174delinsAG ENSP00000455114.1:p.Lys391=
ENST00000566672.5:c.*550_*551delinsAG ENSP00000457037.1:n.*550_*551delinsAG
ENST00000567027.5:c.945+356_945+357delinsAG
ENST00000567159.5:c.1140_1141delinsAG ENSP00000456489.1:p.Lys380=
ENST00000567411.5:c.*661_*662delinsAG ENSP00000455545.1:n.*661_*662delinsAG
ENST00000568777.5:n.6544_6545delinsAG
ENST00000569410.5:c.1073+356_1073+357delinsAG ENSP00000457125.1:n.1073+356_1073+357delinsAG
NM_000520.4:c.1140_1141delinsAG NP_000511.2:p.Lys380=
NM_000520.5:c.1140_1141delinsAG NP_000511.2:p.Lys380=
NM_001318825.1:c.1173_1174delinsAG NP_001305754.1:p.Lys391=
NR_134869.1:n.1574+356_1574+357delinsAG
NM_000520.6:c.1140_1141delinsAG MANE Select NP_000511.2:p.Lys380=
NM_001318825.2:c.1173_1174delinsAG NP_001305754.1:p.Lys391=
NR_134869.2:n.1115+356_1115+357delinsAG
NR_134869.3:n.1115+356_1115+357delinsAG