Canonical Allele Identifier: CA813901780

Gene: HEXB

Linked Data

• dbSNP Id: rs1490607701
• MyVariant Identifiers: chr5:g.73985079_73985093del (hg19) ; chr5:g.74689254_74689268del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689258_74689272del , CM000667.2:g.74689258_74689272del	GRCh38
NC_000005.9:g.73985083_73985097del , CM000667.1:g.73985083_73985097del	GRCh37
NC_000005.8:g.74020839_74020853del	NCBI36
NG_009770.1:g.9115_9129del
NG_009770.2:g.54236_54250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.300-70_300-56del MANE Select	ENSP00000261416.7:n.300-70_300-56del
ENST00000261416.11:c.300-70_300-56del	ENSP00000261416.7:n.300-70_300-56del
ENST00000511181.5:c.-376-70_-376-56del	ENSP00000426285.1:n.-376-70_-376-56del
ENST00000513079.5:n.365-70_365-56del
ENST00000515528.1:n.355-70_355-56del
NM_000521.3:c.300-70_300-56del	NP_000512.1:n.300-70_300-56del
NM_001292004.1:c.-376-70_-376-56del	NP_001278933.1:n.-376-70_-376-56del
NM_000521.4:c.300-70_300-56del MANE Select	NP_000512.2:n.300-70_300-56del
NM_001292004.2:c.-376-70_-376-56del	NP_001278933.1:n.-376-70_-376-56del