Canonical Allele Identifier: CA1555776109

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685339_74685357delinsTTGGCGCTGCTGACTCAGG , CM000667.2:g.74685339_74685357delinsTTGGCGCTGCTGACTCAGG	GRCh38
NC_000005.9:g.73981164_73981182delinsTTGGCGCTGCTGACTCAGG , CM000667.1:g.73981164_73981182delinsTTGGCGCTGCTGACTCAGG	GRCh37
NC_000005.8:g.74016920_74016938delinsTTGGCGCTGCTGACTCAGG	NCBI36
NG_009770.1:g.5196_5214delinsTTGGCGCTGCTGACTCAGG
NG_009770.2:g.50317_50335delinsTTGGCGCTGCTGACTCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.79_97delinsTTGGCGCTGCTGACTCAGG MANE Select	ENSP00000261416.7:p.Leu27=
ENST00000261416.11:c.79_97delinsTTGGCGCTGCTGACTCAGG	ENSP00000261416.7:p.Leu27=
ENST00000511181.5:c.-376-3989_-376-3971delinsTTGGCGCTGCTGACTCAGG	ENSP00000426285.1:n.-376-3989_-376-3971delinsTTGGCGCTGCTGACTC...
ENST00000513079.5:n.144_162delinsTTGGCGCTGCTGACTCAGG
ENST00000515528.1:n.134_152delinsTTGGCGCTGCTGACTCAGG
NM_000521.3:c.79_97delinsTTGGCGCTGCTGACTCAGG	NP_000512.1:p.Leu27=
NM_001292004.1:c.-376-3989_-376-3971delinsTTGGCGCTGCTGACTCAGG	NP_001278933.1:n.-376-3989_-376-3971delinsTTGGCGCTGCTGACTCAGG...
NM_000521.4:c.79_97delinsTTGGCGCTGCTGACTCAGG MANE Select	NP_000512.2:p.Leu27=
NM_001292004.2:c.-376-3989_-376-3971delinsTTGGCGCTGCTGACTCAGG	NP_001278933.1:n.-376-3989_-376-3971delinsTTGGCGCTGCTGACTCAGG...