Canonical Allele Identifier: CA1139667033
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 984693
ClinVar RCV Id: RCV001264797

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72347687_72351234del , CM000677.2:g.72347687_72351234del GRCh38
NC_000015.9:g.72640028_72643575del , CM000677.1:g.72640028_72643575del GRCh37
NC_000015.8:g.70427082_70430629del NCBI36
NG_009017.1:g.29947_33494del
NG_009017.2:g.29947_33494del

Transcript Alleles

HGVS Amino-acid change
ENST00000567027.6:c.572_1073+362del
ENST00000682061.1:c.*234_*808del
ENST00000682177.1:c.572_1189del
ENST00000682461.1:c.678_1252del
ENST00000682653.1:n.603_1466del
ENST00000682657.1:c.255_*483+362del
ENST00000682721.1:c.*375_*949del
ENST00000682843.1:c.*470_*971+362del
ENST00000683003.1:c.414_*483+362del
ENST00000683133.1:c.756_1330del
ENST00000683228.1:n.603_1177del
ENST00000683243.1:c.414_*483+362del
ENST00000683463.1:c.572_1073+362del
ENST00000683548.1:n.603_1104+362del
ENST00000683579.1:c.*470_*1044del
ENST00000683587.1:n.603_1177del
ENST00000683681.1:c.572_1146del
ENST00000683735.1:c.*470_*1044del
ENST00000683742.1:n.403_977del
ENST00000683853.1:c.572_1073+362del
ENST00000683860.1:c.572_1146del
ENST00000683884.1:c.572_1146del
ENST00000684041.1:c.572_1146del
ENST00000684125.1:c.572_1073+362del
ENST00000684203.1:n.2410_2911+362del
ENST00000684231.1:c.414_*556del
ENST00000684263.1:c.572_*86del
ENST00000684305.1:c.1020_1594del
ENST00000684415.1:c.572_*13+345del
ENST00000684520.1:c.572_1146del
ENST00000684602.1:c.*238_*812del
ENST00000684667.1:c.903_1477del
ENST00000268097.10:c.572_1146del
ENST00000268097.9:c.572_1146del
ENST00000379915.4:c.412+4326_413-1361del ENSP00000478716.1:n.412+4326_413-1361del
ENST00000563762.5:c.505_825+362del
ENST00000566304.5:c.605_1179del
ENST00000566672.5:c.414_*556del
ENST00000567027.5:c.444_945+362del
ENST00000567159.5:c.572_1146del
ENST00000567411.5:c.*93_*667del
ENST00000568777.5:n.5976_6550del
ENST00000569410.5:c.572_1073+362del
NM_000520.4:c.572_1146del
NM_000520.5:c.572_1146del
NM_001318825.1:c.605_1179del
NR_134869.1:n.1073_1574+362del
NM_000520.6:c.572_1146del
NM_001318825.2:c.605_1179del
NR_134869.2:n.614_1115+362del
NR_134869.3:n.614_1115+362del