Canonical Allele Identifier: CA16041744
Gene: HEXA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371536
ClinVar RCV Id: RCV000409425
dbSNP Id: rs1057517348

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72375950_72375951del , CM000677.2:g.72375950_72375951del GRCh38
NC_000015.8:g.70455345_70455346del NCBI36
NC_000015.9:g.72668291_72668292del , CM000677.1:g.72668291_72668292del GRCh37
NG_009017.1:g.5231_5232del

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.9:c.24_25del ENSP00000268097.5:p.Ser9AlafsTer?
ENST00000379915.4:c.24_25del ENSP00000478716.1:p.Ser9AlafsTer?
ENST00000563762.5:n.24_25del ENSP00000456346.1:p.Ser9AlafsTer?
ENST00000563908.1:n.21_22del
ENST00000566304.5:c.24_25del ENSP00000455114.1:p.Ser9AlafsTer?
ENST00000566672.5:c.24_25del ENSP00000457037.1:p.Ser9AlafsTer?
ENST00000567159.5:c.24_25del ENSP00000456489.1:p.Ser9AlafsTer?
ENST00000567213.2:c.24_25del ENSP00000478217.1:p.Ser9AlafsTer?
ENST00000567411.5:c.24_25del ENSP00000455545.1:p.Ser9AlafsTer?
ENST00000568260.1:n.5_6del
ENST00000569410.5:c.24_25del ENSP00000457125.1:p.Ser9AlafsTer?
ENST00000569509.5:n.147-118_147-117del
NM_000520.4:c.24_25del NP_000511.2:p.Ser9AlafsTer?