Canonical Allele Identifier: CA813919766

Gene: HEXB

Linked Data

• dbSNP Id: rs1413572249
• MyVariant Identifiers: chr5:g.74014573_74014575del (hg19) ; chr5:g.74718748_74718750del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718750_74718752del , CM000667.2:g.74718750_74718752del	GRCh38
NC_000005.9:g.74014575_74014577del , CM000667.1:g.74014575_74014577del	GRCh37
NC_000005.8:g.74050331_74050333del	NCBI36
NG_009770.1:g.38607_38609del
NG_009770.2:g.83728_83730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.1243-47_1243-45del MANE Select	ENSP00000261416.7:n.1243-47_1243-45del
ENST00000261416.11:c.1243-47_1243-45del	ENSP00000261416.7:n.1243-47_1243-45del
ENST00000503312.5:c.119-47_119-45del
ENST00000504459.5:n.440-47_440-45del
ENST00000511181.5:c.568-47_568-45del	ENSP00000426285.1:n.568-47_568-45del
ENST00000513336.5:c.179-47_179-45del
ENST00000513539.1:n.74-159_74-157del
NM_000521.3:c.1243-47_1243-45del	NP_000512.1:n.1243-47_1243-45del
NM_001292004.1:c.568-47_568-45del	NP_001278933.1:n.568-47_568-45del
NM_000521.4:c.1243-47_1243-45del MANE Select	NP_000512.2:n.1243-47_1243-45del
NM_001292004.2:c.568-47_568-45del	NP_001278933.1:n.568-47_568-45del