Canonical Allele Identifier: CA2186744868
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72349157_72349168delinsGTGCTCATGAAC , CM000677.2:g.72349157_72349168delinsGTGCTCATGAAC GRCh38
NC_000015.9:g.72641498_72641509delinsGTGCTCATGAAC , CM000677.1:g.72641498_72641509delinsGTGCTCATGAAC GRCh37
NC_000015.8:g.70428552_70428563delinsGTGCTCATGAAC NCBI36
NG_009017.1:g.32012_32023delinsGTTCATGAGCAC
NG_009017.2:g.32012_32023delinsGTTCATGAGCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000563908.2:n.3243_3254delinsGTTCATGAGCAC
ENST00000567027.6:c.897_908delinsGTTCATGAGCAC ENSP00000457521.2:p.Glu299=
ENST00000682061.1:c.*559_*570delinsGTTCATGAGCAC ENSP00000508316.1:n.*559_*570delinsGTTCATGAGCAC
ENST00000682177.1:c.940_951delinsGTTCATGAGCAC ENSP00000507409.1:n.940_951delinsGTTCATGAGCAC
ENST00000682461.1:c.1003_1014delinsGTTCATGAGCAC ENSP00000507308.1:n.1003_1014delinsGTTCATGAGCAC
ENST00000682653.1:n.928_939delinsGTTCATGAGCAC
ENST00000682657.1:c.*307_*318delinsGTTCATGAGCAC ENSP00000507753.1:n.*307_*318delinsGTTCATGAGCAC
ENST00000682721.1:c.*700_*711delinsGTTCATGAGCAC ENSP00000507535.1:n.*700_*711delinsGTTCATGAGCAC
ENST00000682843.1:c.*795_*806delinsGTTCATGAGCAC ENSP00000508173.1:n.*795_*806delinsGTTCATGAGCAC
ENST00000683003.1:c.*307_*318delinsGTTCATGAGCAC ENSP00000507576.1:n.*307_*318delinsGTTCATGAGCAC
ENST00000683133.1:c.1081_1092delinsGTTCATGAGCAC ENSP00000508108.1:n.1081_1092delinsGTTCATGAGCAC
ENST00000683228.1:n.928_939delinsGTTCATGAGCAC
ENST00000683243.1:c.*307_*318delinsGTTCATGAGCAC ENSP00000507042.1:n.*307_*318delinsGTTCATGAGCAC
ENST00000683463.1:c.897_908delinsGTTCATGAGCAC ENSP00000507986.1:p.Glu299=
ENST00000683548.1:n.928_939delinsGTTCATGAGCAC
ENST00000683579.1:c.*795_*806delinsGTTCATGAGCAC ENSP00000506867.1:n.*795_*806delinsGTTCATGAGCAC
ENST00000683587.1:n.928_939delinsGTTCATGAGCAC
ENST00000683681.1:c.897_908delinsGTTCATGAGCAC ENSP00000508110.1:p.Glu299=
ENST00000683735.1:c.*795_*806delinsGTTCATGAGCAC ENSP00000508336.1:n.*795_*806delinsGTTCATGAGCAC
ENST00000683742.1:n.728_739delinsGTTCATGAGCAC
ENST00000683853.1:c.897_908delinsGTTCATGAGCAC ENSP00000506834.1:p.Glu299=
ENST00000683860.1:c.897_908delinsGTTCATGAGCAC ENSP00000507179.1:p.Glu299=
ENST00000683884.1:c.897_908delinsGTTCATGAGCAC ENSP00000507004.1:p.Glu299=
ENST00000684041.1:c.897_908delinsGTTCATGAGCAC ENSP00000508382.1:p.Glu299=
ENST00000684125.1:c.897_908delinsGTTCATGAGCAC ENSP00000507320.1:p.Glu299=
ENST00000684203.1:n.2735_2746delinsGTTCATGAGCAC
ENST00000684231.1:c.*307_*318delinsGTTCATGAGCAC ENSP00000507748.1:n.*307_*318delinsGTTCATGAGCAC
ENST00000684263.1:c.897_908delinsGTTCATGAGCAC ENSP00000508369.1:p.Glu299=
ENST00000684305.1:c.1345_1356delinsGTTCATGAGCAC ENSP00000506819.1:n.1345_1356delinsGTTCATGAGCAC
ENST00000684415.1:c.897_908delinsGTTCATGAGCAC ENSP00000507227.1:p.Glu299=
ENST00000684520.1:c.897_908delinsGTTCATGAGCAC ENSP00000506826.1:p.Glu299=
ENST00000684602.1:c.*563_*574delinsGTTCATGAGCAC ENSP00000507996.1:n.*563_*574delinsGTTCATGAGCAC
ENST00000684667.1:c.1228_1239delinsGTTCATGAGCAC ENSP00000507003.1:n.1228_1239delinsGTTCATGAGCAC
ENST00000268097.10:c.897_908delinsGTTCATGAGCAC MANE Select ENSP00000268097.6:p.Glu299=
ENST00000268097.9:c.897_908delinsGTTCATGAGCAC ENSP00000268097.5:p.Glu299=
ENST00000379915.4:c.413-2843_413-2832delinsGTTCATGAGCAC ENSP00000478716.1:n.413-2843_413-2832delinsGTTCATGAGCAC
ENST00000563762.5:c.739-1034_739-1023delinsGTTCATGAGCAC ENSP00000456346.1:n.739-1034_739-1023delinsGTTCATGAGCAC
ENST00000566304.5:c.930_941delinsGTTCATGAGCAC ENSP00000455114.1:p.Glu310=
ENST00000566672.5:c.*307_*318delinsGTTCATGAGCAC ENSP00000457037.1:n.*307_*318delinsGTTCATGAGCAC
ENST00000567027.5:c.769_780delinsGTTCATGAGCAC
ENST00000567159.5:c.897_908delinsGTTCATGAGCAC ENSP00000456489.1:p.Glu299=
ENST00000567411.5:c.*418_*429delinsGTTCATGAGCAC ENSP00000455545.1:n.*418_*429delinsGTTCATGAGCAC
ENST00000568777.5:n.6301_6312delinsGTTCATGAGCAC
ENST00000569410.5:c.897_908delinsGTTCATGAGCAC ENSP00000457125.1:p.Glu299=
NM_000520.4:c.897_908delinsGTTCATGAGCAC NP_000511.2:p.Glu299=
NM_000520.5:c.897_908delinsGTTCATGAGCAC NP_000511.2:p.Glu299=
NM_001318825.1:c.930_941delinsGTTCATGAGCAC NP_001305754.1:p.Glu310=
NR_134869.1:n.1398_1409delinsGTTCATGAGCAC
NM_000520.6:c.897_908delinsGTTCATGAGCAC MANE Select NP_000511.2:p.Glu299=
NM_001318825.2:c.930_941delinsGTTCATGAGCAC NP_001305754.1:p.Glu310=
NR_134869.2:n.939_950delinsGTTCATGAGCAC
NR_134869.3:n.939_950delinsGTTCATGAGCAC