Canonical Allele Identifier: CA2186744016
Gene: HEXA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72347225_72347241delinsTGAGGGAAGATAGAAAC , CM000677.2:g.72347225_72347241delinsTGAGGGAAGATAGAAAC GRCh38
NC_000015.9:g.72639566_72639582delinsTGAGGGAAGATAGAAAC , CM000677.1:g.72639566_72639582delinsTGAGGGAAGATAGAAAC GRCh37
NC_000015.8:g.70426620_70426636delinsTGAGGGAAGATAGAAAC NCBI36
NG_009017.1:g.33939_33955delinsGTTTCTATCTTCCCTCA
NG_009017.2:g.33939_33955delinsGTTTCTATCTTCCCTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000567027.6:c.1073+807_1073+823delinsGTTTCTATCTTCCCTCA ENSP00000457521.2:n.1073+807_1073+823delinsGTTTCTATCTTCCCTCA
ENST00000682061.1:c.*808+445_*808+461delinsGTTTCTATCTTCCCTCA ENSP00000508316.1:n.*808+445_*808+461delinsGTTTCTATCTTCCCTCA
ENST00000682177.1:c.1189+445_1189+461delinsGTTTCTATCTTCCCTCA ENSP00000507409.1:n.1189+445_1189+461delinsGTTTCTATCTTCCCTCA
ENST00000682461.1:c.1252+445_1252+461delinsGTTTCTATCTTCCCTCA ENSP00000507308.1:n.1252+445_1252+461delinsGTTTCTATCTTCCCTCA
ENST00000682653.1:n.1466+445_1466+461delinsGTTTCTATCTTCCCTCA
ENST00000682657.1:c.*483+807_*483+823delinsGTTTCTATCTTCCCTCA ENSP00000507753.1:n.*483+807_*483+823delinsGTTTCTATCTTCCCTCA
ENST00000682721.1:c.*949+445_*949+461delinsGTTTCTATCTTCCCTCA ENSP00000507535.1:n.*949+445_*949+461delinsGTTTCTATCTTCCCTCA
ENST00000682843.1:c.*971+807_*971+823delinsGTTTCTATCTTCCCTCA ENSP00000508173.1:n.*971+807_*971+823delinsGTTTCTATCTTCCCTCA
ENST00000683003.1:c.*483+807_*483+823delinsGTTTCTATCTTCCCTCA ENSP00000507576.1:n.*483+807_*483+823delinsGTTTCTATCTTCCCTCA
ENST00000683133.1:c.1330+445_1330+461delinsGTTTCTATCTTCCCTCA ENSP00000508108.1:n.1330+445_1330+461delinsGTTTCTATCTTCCCTCA
ENST00000683243.1:c.*483+807_*483+823delinsGTTTCTATCTTCCCTCA ENSP00000507042.1:n.*483+807_*483+823delinsGTTTCTATCTTCCCTCA
ENST00000683463.1:c.1074-531_1074-515delinsGTTTCTATCTTCCCTCA ENSP00000507986.1:n.1074-531_1074-515delinsGTTTCTATCTTCCCTCA
ENST00000683548.1:n.1104+807_1104+823delinsGTTTCTATCTTCCCTCA
ENST00000683579.1:c.*1044+445_*1044+461delinsGTTTCTATCTTCCCTCA ENSP00000506867.1:n.*1044+445_*1044+461delinsGTTTCTATCTTCCCTC...
ENST00000683587.1:n.1177+445_1177+461delinsGTTTCTATCTTCCCTCA
ENST00000683681.1:c.1146+445_1146+461delinsGTTTCTATCTTCCCTCA ENSP00000508110.1:n.1146+445_1146+461delinsGTTTCTATCTTCCCTCA
ENST00000683735.1:c.*1044+445_*1044+461delinsGTTTCTATCTTCCCTCA ENSP00000508336.1:n.*1044+445_*1044+461delinsGTTTCTATCTTCCCTC...
ENST00000683742.1:n.1422_1438delinsGTTTCTATCTTCCCTCA
ENST00000683853.1:c.1074-531_1074-515delinsGTTTCTATCTTCCCTCA ENSP00000506834.1:n.1074-531_1074-515delinsGTTTCTATCTTCCCTCA
ENST00000683860.1:c.1146+445_1146+461delinsGTTTCTATCTTCCCTCA ENSP00000507179.1:n.1146+445_1146+461delinsGTTTCTATCTTCCCTCA
ENST00000683884.1:c.1146+445_1146+461delinsGTTTCTATCTTCCCTCA ENSP00000507004.1:n.1146+445_1146+461delinsGTTTCTATCTTCCCTCA
ENST00000684041.1:c.1146+445_1146+461delinsGTTTCTATCTTCCCTCA ENSP00000508382.1:n.1146+445_1146+461delinsGTTTCTATCTTCCCTCA
ENST00000684125.1:c.1073+807_1073+823delinsGTTTCTATCTTCCCTCA ENSP00000507320.1:n.1073+807_1073+823delinsGTTTCTATCTTCCCTCA
ENST00000684203.1:n.2912-531_2912-515delinsGTTTCTATCTTCCCTCA
ENST00000684231.1:c.*556+445_*556+461delinsGTTTCTATCTTCCCTCA ENSP00000507748.1:n.*556+445_*556+461delinsGTTTCTATCTTCCCTCA
ENST00000684263.1:c.*86+445_*86+461delinsGTTTCTATCTTCCCTCA ENSP00000508369.1:n.*86+445_*86+461delinsGTTTCTATCTTCCCTCA
ENST00000684305.1:c.1594+445_1594+461delinsGTTTCTATCTTCCCTCA ENSP00000506819.1:n.1594+445_1594+461delinsGTTTCTATCTTCCCTCA
ENST00000684415.1:c.*14-531_*14-515delinsGTTTCTATCTTCCCTCA ENSP00000507227.1:n.*14-531_*14-515delinsGTTTCTATCTTCCCTCA
ENST00000684520.1:c.1146+445_1146+461delinsGTTTCTATCTTCCCTCA ENSP00000506826.1:n.1146+445_1146+461delinsGTTTCTATCTTCCCTCA
ENST00000684602.1:c.*812+445_*812+461delinsGTTTCTATCTTCCCTCA ENSP00000507996.1:n.*812+445_*812+461delinsGTTTCTATCTTCCCTCA
ENST00000684667.1:c.1477+445_1477+461delinsGTTTCTATCTTCCCTCA ENSP00000507003.1:n.1477+445_1477+461delinsGTTTCTATCTTCCCTCA
ENST00000268097.10:c.1146+445_1146+461delinsGTTTCTATCTTCCCTCA MANE Select ENSP00000268097.6:n.1146+445_1146+461delinsGTTTCTATCTTCCCTCA
ENST00000268097.9:c.1146+445_1146+461delinsGTTTCTATCTTCCCTCA ENSP00000268097.5:n.1146+445_1146+461delinsGTTTCTATCTTCCCTCA
ENST00000379915.4:c.413-916_413-900delinsGTTTCTATCTTCCCTCA ENSP00000478716.1:n.413-916_413-900delinsGTTTCTATCTTCCCTCA
ENST00000563762.5:c.825+807_825+823delinsGTTTCTATCTTCCCTCA ENSP00000456346.1:n.825+807_825+823delinsGTTTCTATCTTCCCTCA
ENST00000566304.5:c.1179+445_1179+461delinsGTTTCTATCTTCCCTCA ENSP00000455114.1:n.1179+445_1179+461delinsGTTTCTATCTTCCCTCA
ENST00000566672.5:c.*556+445_*556+461delinsGTTTCTATCTTCCCTCA ENSP00000457037.1:n.*556+445_*556+461delinsGTTTCTATCTTCCCTCA
ENST00000567027.5:c.945+807_945+823delinsGTTTCTATCTTCCCTCA
ENST00000567159.5:c.1146+445_1146+461delinsGTTTCTATCTTCCCTCA ENSP00000456489.1:n.1146+445_1146+461delinsGTTTCTATCTTCCCTCA
ENST00000567411.5:c.*667+445_*667+461delinsGTTTCTATCTTCCCTCA ENSP00000455545.1:n.*667+445_*667+461delinsGTTTCTATCTTCCCTCA
ENST00000568777.5:n.6550+445_6550+461delinsGTTTCTATCTTCCCTCA
ENST00000569410.5:c.1074-531_1074-515delinsGTTTCTATCTTCCCTCA ENSP00000457125.1:n.1074-531_1074-515delinsGTTTCTATCTTCCCTCA
NM_000520.4:c.1146+445_1146+461delinsGTTTCTATCTTCCCTCA NP_000511.2:n.1146+445_1146+461delinsGTTTCTATCTTCCCTCA
NM_000520.5:c.1146+445_1146+461delinsGTTTCTATCTTCCCTCA NP_000511.2:n.1146+445_1146+461delinsGTTTCTATCTTCCCTCA
NM_001318825.1:c.1179+445_1179+461delinsGTTTCTATCTTCCCTCA NP_001305754.1:n.1179+445_1179+461delinsGTTTCTATCTTCCCTCA
NR_134869.1:n.1574+807_1574+823delinsGTTTCTATCTTCCCTCA
NM_000520.6:c.1146+445_1146+461delinsGTTTCTATCTTCCCTCA MANE Select NP_000511.2:n.1146+445_1146+461delinsGTTTCTATCTTCCCTCA
NM_001318825.2:c.1179+445_1179+461delinsGTTTCTATCTTCCCTCA NP_001305754.1:n.1179+445_1179+461delinsGTTTCTATCTTCCCTCA
NR_134869.2:n.1115+807_1115+823delinsGTTTCTATCTTCCCTCA
NR_134869.3:n.1115+807_1115+823delinsGTTTCTATCTTCCCTCA