Canonical Allele Identifier: CA1555781398

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718660_74718662delinsGAA , CM000667.2:g.74718660_74718662delinsGAA	GRCh38
NC_000005.9:g.74014485_74014487delinsGAA , CM000667.1:g.74014485_74014487delinsGAA	GRCh37
NC_000005.8:g.74050241_74050243delinsGAA	NCBI36
NG_009770.1:g.38517_38519delinsGAA
NG_009770.2:g.83638_83640delinsGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1243-137_1243-135delinsGAA MANE Select	ENSP00000261416.7:n.1243-137_1243-135delinsGAA
ENST00000261416.11:c.1243-137_1243-135delinsGAA	ENSP00000261416.7:n.1243-137_1243-135delinsGAA
ENST00000503312.5:c.119-137_119-135delinsGAA
ENST00000504459.5:n.440-137_440-135delinsGAA
ENST00000511181.5:c.568-137_568-135delinsGAA	ENSP00000426285.1:n.568-137_568-135delinsGAA
ENST00000513336.5:c.179-137_179-135delinsGAA
ENST00000513539.1:n.74-249_74-247delinsGAA
NM_000521.3:c.1243-137_1243-135delinsGAA	NP_000512.1:n.1243-137_1243-135delinsGAA
NM_001292004.1:c.568-137_568-135delinsGAA	NP_001278933.1:n.568-137_568-135delinsGAA
NM_000521.4:c.1243-137_1243-135delinsGAA MANE Select	NP_000512.2:n.1243-137_1243-135delinsGAA
NM_001292004.2:c.568-137_568-135delinsGAA	NP_001278933.1:n.568-137_568-135delinsGAA