Canonical Allele Identifier: CA1555781406

Gene: HEXB

Linked Data

• dbSNP Id: rs1749734459

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718673_74718678del , CM000667.2:g.74718673_74718678del	GRCh38
NC_000005.9:g.74014498_74014503del , CM000667.1:g.74014498_74014503del	GRCh37
NC_000005.8:g.74050254_74050259del	NCBI36
NG_009770.1:g.38530_38535del
NG_009770.2:g.83651_83656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.1243-124_1243-119del MANE Select	ENSP00000261416.7:n.1243-124_1243-119del
ENST00000261416.11:c.1243-124_1243-119del	ENSP00000261416.7:n.1243-124_1243-119del
ENST00000503312.5:c.119-124_119-119del
ENST00000504459.5:n.440-124_440-119del
ENST00000511181.5:c.568-124_568-119del	ENSP00000426285.1:n.568-124_568-119del
ENST00000513336.5:c.179-124_179-119del
ENST00000513539.1:n.74-236_74-231del
NM_000521.3:c.1243-124_1243-119del	NP_000512.1:n.1243-124_1243-119del
NM_001292004.1:c.568-124_568-119del	NP_001278933.1:n.568-124_568-119del
NM_000521.4:c.1243-124_1243-119del MANE Select	NP_000512.2:n.1243-124_1243-119del
NM_001292004.2:c.568-124_568-119del	NP_001278933.1:n.568-124_568-119del