Canonical Allele Identifier: CA560368014
Gene: HEXB HGNC NCBI

Linked Data

dbSNP Id: rs1174213805
gnomAD v2: 5-73984967-TG-T
gnomAD v3: 5-74689142-TG-T
gnomAD v4: 5-74689142-TG-T
MyVariant Identifiers: chr5:g.73984968del (hg19) chr5:g.74689143del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689144del , CM000667.2:g.74689144del GRCh38
NC_000005.9:g.73984969del , CM000667.1:g.73984969del GRCh37
NC_000005.8:g.74020725del NCBI36
NG_009770.1:g.9001del
NG_009770.2:g.54122del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.300-184del MANE Select ENSP00000261416.7:n.300-184del
ENST00000261416.11:c.300-184del ENSP00000261416.7:n.300-184del
ENST00000511181.5:c.-376-184del ENSP00000426285.1:n.-376-184del
ENST00000513079.5:n.365-184del
ENST00000515528.1:n.355-184del
NM_000521.3:c.300-184del NP_000512.1:n.300-184del
NM_001292004.1:c.-376-184del NP_001278933.1:n.-376-184del
NM_000521.4:c.300-184del MANE Select NP_000512.2:n.300-184del
NM_001292004.2:c.-376-184del NP_001278933.1:n.-376-184del
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