Canonical Allele Identifier: CA971332817
Gene: HEXA HGNC NCBI

Linked Data

dbSNP Id: rs2089064987
gnomAD v3: 15-72376050-CG-C
gnomAD v4: 15-72376050-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376052del , CM000677.2:g.72376052del GRCh38
NC_000015.9:g.72668393del , CM000677.1:g.72668393del GRCh37
NC_000015.8:g.70455447del NCBI36
NG_009017.1:g.5129del
NG_009017.2:g.5129del

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-79del ENSP00000268097.5:n.-79del
ENST00000569509.5:n.147-220del
NM_000520.4:c.-79del NP_000511.2:n.-79del
NM_000520.5:c.-79del NP_000511.2:n.-79del
NM_001318825.1:c.-79del NP_001305754.1:n.-79del
NR_134869.1:n.423del
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