Canonical Allele Identifier: CA2575781394
Gene: HEXA HGNC NCBI

Linked Data

gnomAD v4: 15-72376035-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376040del , CM000677.2:g.72376040del GRCh38
NC_000015.9:g.72668381del , CM000677.1:g.72668381del GRCh37
NC_000015.8:g.70455435del NCBI36
NG_009017.1:g.5144del
NG_009017.2:g.5144del

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-64del ENSP00000268097.5:n.-64del
ENST00000569509.5:n.147-205del
NM_000520.4:c.-64del NP_000511.2:n.-64del
NM_000520.5:c.-64del NP_000511.2:n.-64del
NM_001318825.1:c.-64del NP_001305754.1:n.-64del
NR_134869.1:n.438del
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