Canonical Allele Identifier: CA16041742
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 371468
ClinVar RCV Id: RCV000412167
dbSNP Id: rs1057517296

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72375912_72375913dup , CM000677.2:g.72375912_72375913dup GRCh38
NC_000015.9:g.72668253_72668254dup , CM000677.1:g.72668253_72668254dup GRCh37
NC_000015.8:g.70455307_70455308dup NCBI36
NG_009017.1:g.5267_5268dup
NG_009017.2:g.5267_5268dup

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.10:c.60_61dup MANE Select ENSP00000268097.6:p.Thr21ArgfsTer?
ENST00000268097.9:c.60_61dup ENSP00000268097.5:p.Thr21ArgfsTer?
ENST00000379915.4:c.60_61dup ENSP00000478716.1:p.Thr21ArgfsTer?
ENST00000563762.5:n.60_61dup ENSP00000456346.1:p.Thr21ArgfsTer?
ENST00000563908.1:n.57_58dup
ENST00000566304.5:c.60_61dup ENSP00000455114.1:p.Thr21ArgfsTer?
ENST00000566672.5:c.60_61dup ENSP00000457037.1:p.Thr21ArgfsTer?
ENST00000567159.5:c.60_61dup ENSP00000456489.1:p.Thr21ArgfsTer?
ENST00000567213.2:c.60_61dup ENSP00000478217.1:p.Thr21ArgfsTer?
ENST00000567411.5:c.60_61dup ENSP00000455545.1:p.Thr21ArgfsTer?
ENST00000568260.1:n.41_42dup
ENST00000569410.5:c.60_61dup ENSP00000457125.1:p.Thr21ArgfsTer?
ENST00000569509.5:n.147-82_147-81dup
NM_000520.4:c.60_61dup NP_000511.2:p.Thr21ArgfsTer?
NM_000520.5:c.60_61dup NP_000511.2:p.Thr21ArgfsTer?
NM_001318825.1:c.60_61dup NP_001305754.1:p.Thr21ArgfsTer?
NR_134869.1:n.561_562dup
NM_000520.6:c.60_61dup MANE Select NP_000511.2:p.Thr21ArgfsTer?
NM_001318825.2:c.60_61dup NP_001305754.1:p.Thr21ArgfsTer?
NR_134869.2:n.102_103dup
NR_134869.3:n.102_103dup