Canonical Allele Identifier: CA912992672
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72375971_72375979del , CM000677.2:g.72375971_72375979del GRCh38
NC_000015.9:g.72668312_72668320del , CM000677.1:g.72668312_72668320del GRCh37
NC_000015.8:g.70455366_70455374del NCBI36
NG_009017.1:g.5202_5210del
NG_009017.2:g.5202_5210del

Transcript Alleles

HGVS Amino-acid Change
ENST00000563908.2:n.8_16del
ENST00000567027.6:c.-6_3del
ENST00000682061.1:c.-6_3del
ENST00000682653.1:n.26_34del
ENST00000682657.1:c.-6_3del
ENST00000682721.1:c.-6_3del
ENST00000682843.1:c.-6_3del
ENST00000683003.1:c.-6_3del
ENST00000683228.1:n.26_34del
ENST00000683243.1:c.-6_3del
ENST00000683463.1:c.-6_3del
ENST00000683548.1:n.26_34del
ENST00000683579.1:c.-6_3del
ENST00000683587.1:n.26_34del
ENST00000683681.1:c.-6_3del
ENST00000683735.1:c.-6_3del
ENST00000683853.1:c.-6_3del
ENST00000683860.1:c.-6_3del
ENST00000683884.1:c.-6_3del
ENST00000684041.1:c.-6_3del
ENST00000684125.1:c.-6_3del
ENST00000684203.1:n.12_20del
ENST00000684231.1:c.-6_3del
ENST00000684263.1:c.-6_3del
ENST00000684415.1:c.-6_3del
ENST00000684520.1:c.-6_3del
ENST00000684602.1:c.-6_3del
ENST00000268097.10:c.-6_3del
ENST00000268097.9:c.-6_3del
ENST00000379915.4:c.-6_3del
ENST00000566304.5:c.-6_3del
ENST00000566672.5:c.-6_3del
ENST00000567159.5:c.-6_3del
ENST00000567213.2:c.-6_3del
ENST00000567411.5:c.-6_3del
ENST00000569509.5:n.147-147_147-139del
NM_000520.4:c.-6_3del
NM_000520.5:c.-6_3del
NM_001318825.1:c.-6_3del
NR_134869.1:n.496_504del
NM_000520.6:c.-6_3del
NM_001318825.2:c.-6_3del
NR_134869.2:n.37_45del
NR_134869.3:n.37_45del