Canonical Allele Identifier: CA2629344023

Gene: HEXA

Linked Data

• gnomAD v4: 15-72376098-G-GACCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376103_72376108dup , CM000677.2:g.72376103_72376108dup	GRCh38
NC_000015.9:g.72668444_72668449dup , CM000677.1:g.72668444_72668449dup	GRCh37
NC_000015.8:g.70455498_70455503dup	NCBI36
NG_009017.1:g.5076_5081dup
NG_009017.2:g.5076_5081dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-132_-127dup	ENSP00000268097.5:n.-132_-127dup
ENST00000569509.5:n.146+171_146+176dup
NM_000520.4:c.-132_-127dup	NP_000511.2:n.-132_-127dup
NM_000520.5:c.-132_-127dup	NP_000511.2:n.-132_-127dup
NM_001318825.1:c.-132_-127dup	NP_001305754.1:n.-132_-127dup
NR_134869.1:n.370_375dup