Canonical Allele Identifier: CA16041741
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 370628
ClinVar RCV Id: RCV000410519
dbSNP Id: rs1057516640

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72375783_72375793del , CM000677.2:g.72375783_72375793del GRCh38
NC_000015.9:g.72668124_72668134del , CM000677.1:g.72668124_72668134del GRCh37
NC_000015.8:g.70455178_70455188del NCBI36
NG_009017.1:g.5390_5400del
NG_009017.2:g.5390_5400del

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.10:c.183_193del MANE Select ENSP00000268097.6:p.Asp62ProfsTer5
ENST00000268097.9:c.183_193del ENSP00000268097.5:p.Asp62ProfsTer5
ENST00000379915.4:c.183_193del ENSP00000478716.1:p.Asp62ProfsTer5
ENST00000563762.5:n.183_193del ENSP00000456346.1:p.Asp62ProfsTer5
ENST00000563908.1:n.180_190del
ENST00000566304.5:c.183_193del ENSP00000455114.1:p.Asp62ProfsTer5
ENST00000566672.5:c.183_193del ENSP00000457037.1:p.Asp62ProfsTer5
ENST00000567027.5:n.55_65del
ENST00000567159.5:c.183_193del ENSP00000456489.1:p.Asp62ProfsTer5
ENST00000567213.2:c.183_193del ENSP00000478217.1:p.Asp62ProfsTer5
ENST00000567411.5:c.183_193del ENSP00000455545.1:p.Asp62ProfsTer5
ENST00000568260.1:n.164_174del
ENST00000569410.5:c.183_193del ENSP00000457125.1:p.Asp62ProfsTer5
ENST00000569509.5:n.188_198del
NM_000520.4:c.183_193del NP_000511.2:p.Asp62ProfsTer5
NM_000520.5:c.183_193del NP_000511.2:p.Asp62ProfsTer5
NM_001318825.1:c.183_193del NP_001305754.1:p.Asp62ProfsTer5
NR_134869.1:n.684_694del
NM_000520.6:c.183_193del MANE Select NP_000511.2:p.Asp62ProfsTer5
NM_001318825.2:c.183_193del NP_001305754.1:p.Asp62ProfsTer5
NR_134869.2:n.225_235del
NR_134869.3:n.225_235del