Canonical Allele Identifier: CA658822006
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 554151
ClinVar RCV Id: RCV000669727
dbSNP Id: rs1554034447
MyVariant Identifiers: chr5:g.74685378del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685378del , CM000667.2:g.74685378del GRCh38
NC_000005.9:g.73981203del , CM000667.1:g.73981203del GRCh37
NC_000005.8:g.74016959del NCBI36
NG_009770.1:g.5235del
NG_009770.2:g.50356del

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.118del MANE Select ENSP00000261416.7:p.Ala40ArgfsTer24
ENST00000261416.11:c.118del ENSP00000261416.7:p.Ala40ArgfsTer24
ENST00000511181.5:c.-376-3950del ENSP00000426285.1:n.-376-3950del
ENST00000513079.5:n.183del
ENST00000515528.1:n.173del
NM_000521.3:c.118del NP_000512.1:p.Ala40ArgfsTer24
NM_001292004.1:c.-376-3950del NP_001278933.1:n.-376-3950del
NM_000521.4:c.118del MANE Select NP_000512.2:p.Ala40ArgfsTer24
NM_001292004.2:c.-376-3950del NP_001278933.1:n.-376-3950del
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