Canonical Allele Identifier: CA2505080528

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376090_72376091insA , CM000677.2:g.72376090_72376091insA	GRCh38
NC_000015.9:g.72668431_72668432insA , CM000677.1:g.72668431_72668432insA	GRCh37
NC_000015.8:g.70455485_70455486insA	NCBI36
NG_009017.1:g.5089_5090insT
NG_009017.2:g.5089_5090insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-119_-118insT	ENSP00000268097.5:n.-119_-118insT
ENST00000569509.5:n.146+184_146+185insT
NM_000520.4:c.-119_-118insT	NP_000511.2:n.-119_-118insT
NM_000520.5:c.-119_-118insT	NP_000511.2:n.-119_-118insT
NM_001318825.1:c.-119_-118insT	NP_001305754.1:n.-119_-118insT
NR_134869.1:n.383_384insT