Canonical Allele Identifier: CA913109143

Gene: HEXB

Linked Data

• MyVariant Identifiers: chr5:g.73981312_73981315del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685487_74685490del , CM000667.2:g.74685487_74685490del	GRCh38
NC_000005.9:g.73981312_73981315del , CM000667.1:g.73981312_73981315del	GRCh37
NC_000005.8:g.74017068_74017071del	NCBI36
NG_009770.1:g.5344_5347del
NG_009770.2:g.50465_50468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.227_230del MANE Select	ENSP00000261416.7:p.Asn76ThrfsTer?
ENST00000261416.11:c.227_230del	ENSP00000261416.7:p.Asn76ThrfsTer?
ENST00000511181.5:c.-376-3841_-376-3838del	ENSP00000426285.1:n.-376-3841_-376-3838del
ENST00000513079.5:n.292_295del
ENST00000515528.1:n.282_285del
NM_000521.3:c.227_230del	NP_000512.1:p.Asn76ThrfsTer?
NM_001292004.1:c.-376-3841_-376-3838del	NP_001278933.1:n.-376-3841_-376-3838del
NM_000521.4:c.227_230del MANE Select	NP_000512.2:p.Asn76ThrfsTer?
NM_001292004.2:c.-376-3841_-376-3838del	NP_001278933.1:n.-376-3841_-376-3838del