Canonical Allele Identifier: CA1555781409

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718670_74718674delinsAAAAG , CM000667.2:g.74718670_74718674delinsAAAAG	GRCh38
NC_000005.9:g.74014495_74014499delinsAAAAG , CM000667.1:g.74014495_74014499delinsAAAAG	GRCh37
NC_000005.8:g.74050251_74050255delinsAAAAG	NCBI36
NG_009770.1:g.38527_38531delinsAAAAG
NG_009770.2:g.83648_83652delinsAAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1243-127_1243-123delinsAAAAG MANE Select	ENSP00000261416.7:n.1243-127_1243-123delinsAAAAG
ENST00000261416.11:c.1243-127_1243-123delinsAAAAG	ENSP00000261416.7:n.1243-127_1243-123delinsAAAAG
ENST00000503312.5:c.119-127_119-123delinsAAAAG
ENST00000504459.5:n.440-127_440-123delinsAAAAG
ENST00000511181.5:c.568-127_568-123delinsAAAAG	ENSP00000426285.1:n.568-127_568-123delinsAAAAG
ENST00000513336.5:c.179-127_179-123delinsAAAAG
ENST00000513539.1:n.74-239_74-235delinsAAAAG
NM_000521.3:c.1243-127_1243-123delinsAAAAG	NP_000512.1:n.1243-127_1243-123delinsAAAAG
NM_001292004.1:c.568-127_568-123delinsAAAAG	NP_001278933.1:n.568-127_568-123delinsAAAAG
NM_000521.4:c.1243-127_1243-123delinsAAAAG MANE Select	NP_000512.2:n.1243-127_1243-123delinsAAAAG
NM_001292004.2:c.568-127_568-123delinsAAAAG	NP_001278933.1:n.568-127_568-123delinsAAAAG