Canonical Allele Identifier: CA913109140

Gene: HEXB

Linked Data

• MyVariant Identifiers: chr5:g.73981201_73981202del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685376_74685377del , CM000667.2:g.74685376_74685377del	GRCh38
NC_000005.9:g.73981201_73981202del , CM000667.1:g.73981201_73981202del	GRCh37
NC_000005.8:g.74016957_74016958del	NCBI36
NG_009770.1:g.5233_5234del
NG_009770.2:g.50354_50355del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.116_117del MANE Select	ENSP00000261416.7:p.Val39GlyfsTer?
ENST00000261416.11:c.116_117del	ENSP00000261416.7:p.Val39GlyfsTer?
ENST00000511181.5:c.-376-3952_-376-3951del	ENSP00000426285.1:n.-376-3952_-376-3951del
ENST00000513079.5:n.181_182del
ENST00000515528.1:n.171_172del
NM_000521.3:c.116_117del	NP_000512.1:p.Val39GlyfsTer?
NM_001292004.1:c.-376-3952_-376-3951del	NP_001278933.1:n.-376-3952_-376-3951del
NM_000521.4:c.116_117del MANE Select	NP_000512.2:p.Val39GlyfsTer?
NM_001292004.2:c.-376-3952_-376-3951del	NP_001278933.1:n.-376-3952_-376-3951del