Canonical Allele Identifier: CA656210200
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376045dup , CM000677.2:g.72376045dup GRCh38
NC_000015.9:g.72668386dup , CM000677.1:g.72668386dup GRCh37
NC_000015.8:g.70455440dup NCBI36
NG_009017.1:g.5135dup
NG_009017.2:g.5135dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-73dup ENSP00000268097.5:n.-73dup
ENST00000569509.5:n.147-214dup
NM_000520.4:c.-73dup NP_000511.2:n.-73dup
NM_000520.5:c.-73dup NP_000511.2:n.-73dup
NM_001318825.1:c.-73dup NP_001305754.1:n.-73dup
NR_134869.1:n.429dup