Canonical Allele Identifier: CA2629343876
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376031del , CM000677.2:g.72376031del GRCh38
NC_000015.9:g.72668372del , CM000677.1:g.72668372del GRCh37
NC_000015.8:g.70455426del NCBI36
NG_009017.1:g.5149del
NG_009017.2:g.5149del

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-59del ENSP00000268097.5:n.-59del
ENST00000569509.5:n.147-200del
NM_000520.4:c.-59del NP_000511.2:n.-59del
NM_000520.5:c.-59del NP_000511.2:n.-59del
NM_001318825.1:c.-59del NP_001305754.1:n.-59del
NR_134869.1:n.443del