Canonical Allele Identifier: CA2674240495

Gene: HEXB

Linked Data

• gnomAD v4: 5-74718667-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718668_74718670del , CM000667.2:g.74718668_74718670del	GRCh38
NC_000005.9:g.74014493_74014495del , CM000667.1:g.74014493_74014495del	GRCh37
NC_000005.8:g.74050249_74050251del	NCBI36
NG_009770.1:g.38525_38527del
NG_009770.2:g.83646_83648del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1243-129_1243-127del MANE Select	ENSP00000261416.7:n.1243-129_1243-127del
ENST00000261416.11:c.1243-129_1243-127del	ENSP00000261416.7:n.1243-129_1243-127del
ENST00000503312.5:c.119-129_119-127del
ENST00000504459.5:n.440-129_440-127del
ENST00000511181.5:c.568-129_568-127del	ENSP00000426285.1:n.568-129_568-127del
ENST00000513336.5:c.179-129_179-127del
ENST00000513539.1:n.74-241_74-239del
NM_000521.3:c.1243-129_1243-127del	NP_000512.1:n.1243-129_1243-127del
NM_001292004.1:c.568-129_568-127del	NP_001278933.1:n.568-129_568-127del
NM_000521.4:c.1243-129_1243-127del MANE Select	NP_000512.2:n.1243-129_1243-127del
NM_001292004.2:c.568-129_568-127del	NP_001278933.1:n.568-129_568-127del