Canonical Allele Identifier: CA2186742342

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343445_72343447delinsAAT , CM000677.2:g.72343445_72343447delinsAAT	GRCh38
NC_000015.9:g.72635786_72635788delinsAAT , CM000677.1:g.72635786_72635788delinsAAT	GRCh37
NC_000015.8:g.70422840_70422842delinsAAT	NCBI36
NG_009017.1:g.37733_37735delinsATT
NG_009017.2:g.37733_37735delinsATT

Transcript Alleles

HGVS	Amino-acid change
ENST00000683243.1:c.*1373_*1375delinsATT	ENSP00000507042.1:n.*1373_*1375delinsATT
ENST00000268097.10:c.*630_*632delinsATT MANE Select	ENSP00000268097.6:n.*630_*632delinsATT
ENST00000268097.9:c.*630_*632delinsATT	ENSP00000268097.5:n.*630_*632delinsATT
ENST00000379915.4:c.608+1999_608+2001delinsATT	ENSP00000478716.1:n.608+1999_608+2001delinsATT
NM_000520.4:c.*630_*632delinsATT	NP_000511.2:n.*630_*632delinsATT
NM_000520.5:c.*630_*632delinsATT	NP_000511.2:n.*630_*632delinsATT
NM_001318825.1:c.*630_*632delinsATT	NP_001305754.1:n.*630_*632delinsATT
NM_000520.6:c.*630_*632delinsATT MANE Select	NP_000511.2:n.*630_*632delinsATT
NM_001318825.2:c.*630_*632delinsATT	NP_001305754.1:n.*630_*632delinsATT