Canonical Allele Identifier: CA3306015

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74715716del , CM000667.2:g.74715716del	GRCh38
NC_000005.9:g.74011541del , CM000667.1:g.74011541del	GRCh37
NC_000005.8:g.74047297del	NCBI36
NG_009770.1:g.35573del
NG_009770.2:g.80694del

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1082+26del MANE Select	NP_000512.2:n.1082+26del
ENST00000261416.12:c.1082+26del MANE Select	ENSP00000261416.7:n.1082+26del
NM_000521.3:c.1082+26del	NP_000512.1:n.1082+26del
NM_001292004.1:c.407+26del	NP_001278933.1:n.407+26del
NM_001292004.2:c.407+26del	NP_001278933.1:n.407+26del
ENST00000261416.11:c.1082+26del	ENSP00000261416.7:n.1082+26del
ENST00000504459.5:n.279+26del
ENST00000511181.5:c.407+26del	ENSP00000426285.1:n.407+26del
ENST00000511621.1:n.45+26del
ENST00000513336.5:c.105+26del