Canonical Allele Identifier: CA1555776133

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685351_74685352delinsAC , CM000667.2:g.74685351_74685352delinsAC	GRCh38
NC_000005.9:g.73981176_73981177delinsAC , CM000667.1:g.73981176_73981177delinsAC	GRCh37
NC_000005.8:g.74016932_74016933delinsAC	NCBI36
NG_009770.1:g.5208_5209delinsAC
NG_009770.2:g.50329_50330delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.91_92delinsAC MANE Select	ENSP00000261416.7:p.Thr31=
ENST00000261416.11:c.91_92delinsAC	ENSP00000261416.7:p.Thr31=
ENST00000511181.5:c.-376-3977_-376-3976delinsAC	ENSP00000426285.1:n.-376-3977_-376-3976delinsAC
ENST00000513079.5:n.156_157delinsAC
ENST00000515528.1:n.146_147delinsAC
NM_000521.3:c.91_92delinsAC	NP_000512.1:p.Thr31=
NM_001292004.1:c.-376-3977_-376-3976delinsAC	NP_001278933.1:n.-376-3977_-376-3976delinsAC
NM_000521.4:c.91_92delinsAC MANE Select	NP_000512.2:p.Thr31=
NM_001292004.2:c.-376-3977_-376-3976delinsAC	NP_001278933.1:n.-376-3977_-376-3976delinsAC