Canonical Allele Identifier: CA16042525
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 373128
ClinVar RCV Id: RCV000414696
dbSNP Id: rs1057518237

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685534_74685537dup , CM000667.2:g.74685534_74685537dup GRCh38
NC_000005.9:g.73981359_73981362dup , CM000667.1:g.73981359_73981362dup GRCh37
NC_000005.8:g.74017115_74017118dup NCBI36
NG_009770.1:g.5391_5394dup
NG_009770.2:g.50512_50515dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.274_277dup MANE Select ENSP00000261416.7:p.Leu93HisfsTer23
ENST00000261416.11:c.274_277dup ENSP00000261416.7:p.Leu93HisfsTer23
ENST00000511181.5:c.-376-3794_-376-3791dup ENSP00000426285.1:n.-376-3794_-376-3791du...
ENST00000513079.5:n.339_342dup
ENST00000515528.1:n.329_332dup
NM_000521.3:c.274_277dup NP_000512.1:p.Leu93HisfsTer23
NM_001292004.1:c.-376-3794_-376-3791dup NP_001278933.1:n.-376-3794_-376-3791dup
NM_000521.4:c.274_277dup MANE Select NP_000512.2:p.Leu93HisfsTer23
NM_001292004.2:c.-376-3794_-376-3791dup NP_001278933.1:n.-376-3794_-376-3791dup