Canonical Allele Identifier: CA2578348437

Gene: HEXB

Linked Data

• gnomAD v4: 5-74685614-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685618del , CM000667.2:g.74685618del	GRCh38
NC_000005.9:g.73981443del , CM000667.1:g.73981443del	GRCh37
NC_000005.8:g.74017199del	NCBI36
NG_009770.1:g.5475del
NG_009770.2:g.50596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.299+59del MANE Select	ENSP00000261416.7:n.299+59del
ENST00000261416.11:c.299+59del	ENSP00000261416.7:n.299+59del
ENST00000511181.5:c.-376-3710del	ENSP00000426285.1:n.-376-3710del
ENST00000513079.5:n.364+59del
ENST00000515528.1:n.354+59del
NM_000521.3:c.299+59del	NP_000512.1:n.299+59del
NM_001292004.1:c.-376-3710del	NP_001278933.1:n.-376-3710del
NM_000521.4:c.299+59del MANE Select	NP_000512.2:n.299+59del
NM_001292004.2:c.-376-3710del	NP_001278933.1:n.-376-3710del