Canonical Allele Identifier: CA913109141

Gene: HEXB

Linked Data

• MyVariant Identifiers: chr5:g.73981215_73981216del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685390_74685391del , CM000667.2:g.74685390_74685391del	GRCh38
NC_000005.9:g.73981215_73981216del , CM000667.1:g.73981215_73981216del	GRCh37
NC_000005.8:g.74016971_74016972del	NCBI36
NG_009770.1:g.5247_5248del
NG_009770.2:g.50368_50369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.130_131del MANE Select	ENSP00000261416.7:p.Arg44GlyfsTer?
ENST00000261416.11:c.130_131del	ENSP00000261416.7:p.Arg44GlyfsTer?
ENST00000511181.5:c.-376-3938_-376-3937del	ENSP00000426285.1:n.-376-3938_-376-3937del
ENST00000513079.5:n.195_196del
ENST00000515528.1:n.185_186del
NM_000521.3:c.130_131del	NP_000512.1:p.Arg44GlyfsTer?
NM_001292004.1:c.-376-3938_-376-3937del	NP_001278933.1:n.-376-3938_-376-3937del
NM_000521.4:c.130_131del MANE Select	NP_000512.2:p.Arg44GlyfsTer?
NM_001292004.2:c.-376-3938_-376-3937del	NP_001278933.1:n.-376-3938_-376-3937del