Canonical Allele Identifier: CA2186761803

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376091_72376094delinsCCAG , CM000677.2:g.72376091_72376094delinsCCAG	GRCh38
NC_000015.9:g.72668432_72668435delinsCCAG , CM000677.1:g.72668432_72668435delinsCCAG	GRCh37
NC_000015.8:g.70455486_70455489delinsCCAG	NCBI36
NG_009017.1:g.5086_5089delinsCTGG
NG_009017.2:g.5086_5089delinsCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.9:c.-122_-119delinsCTGG	ENSP00000268097.5:n.-122_-119delinsCTGG
ENST00000569509.5:n.146+181_146+184delinsCTGG
NM_000520.4:c.-122_-119delinsCTGG	NP_000511.2:n.-122_-119delinsCTGG
NM_000520.5:c.-122_-119delinsCTGG	NP_000511.2:n.-122_-119delinsCTGG
NM_001318825.1:c.-122_-119delinsCTGG	NP_001305754.1:n.-122_-119delinsCTGG
NR_134869.1:n.380_383delinsCTGG