Canonical Allele Identifier: CA2629343897

Gene: HEXA

Linked Data

• gnomAD v4: 15-72376035-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376040dup , CM000677.2:g.72376040dup	GRCh38
NC_000015.9:g.72668381dup , CM000677.1:g.72668381dup	GRCh37
NC_000015.8:g.70455435dup	NCBI36
NG_009017.1:g.5144dup
NG_009017.2:g.5144dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-64dup	ENSP00000268097.5:n.-64dup
ENST00000569509.5:n.147-205dup
NM_000520.4:c.-64dup	NP_000511.2:n.-64dup
NM_000520.5:c.-64dup	NP_000511.2:n.-64dup
NM_001318825.1:c.-64dup	NP_001305754.1:n.-64dup
NR_134869.1:n.438dup