Canonical Allele Identifier: CA560766169

Gene: HEXB

Linked Data

• dbSNP Id: rs1475983388
• gnomAD v2: 5-74014485-GAA-G
• MyVariant Identifiers: chr5:g.74014486_74014487del (hg19) ; chr5:g.74718661_74718662del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718663_74718664del , CM000667.2:g.74718663_74718664del	GRCh38
NC_000005.9:g.74014488_74014489del , CM000667.1:g.74014488_74014489del	GRCh37
NC_000005.8:g.74050244_74050245del	NCBI36
NG_009770.1:g.38520_38521del
NG_009770.2:g.83641_83642del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1243-134_1243-133del MANE Select	ENSP00000261416.7:n.1243-134_1243-133del
ENST00000261416.11:c.1243-134_1243-133del	ENSP00000261416.7:n.1243-134_1243-133del
ENST00000503312.5:c.119-134_119-133del
ENST00000504459.5:n.440-134_440-133del
ENST00000511181.5:c.568-134_568-133del	ENSP00000426285.1:n.568-134_568-133del
ENST00000513336.5:c.179-134_179-133del
ENST00000513539.1:n.74-246_74-245del
NM_000521.3:c.1243-134_1243-133del	NP_000512.1:n.1243-134_1243-133del
NM_001292004.1:c.568-134_568-133del	NP_001278933.1:n.568-134_568-133del
NM_000521.4:c.1243-134_1243-133del MANE Select	NP_000512.2:n.1243-134_1243-133del
NM_001292004.2:c.568-134_568-133del	NP_001278933.1:n.568-134_568-133del