Canonical Allele Identifier: CA2695204625

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718814_74718817del , CM000667.2:g.74718814_74718817del	GRCh38
NC_000005.9:g.74014639_74014642del , CM000667.1:g.74014639_74014642del	GRCh37
NC_000005.8:g.74050395_74050398del	NCBI36
NG_009770.1:g.38671_38674del
NG_009770.2:g.83792_83795del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1260_1263del MANE Select	ENSP00000261416.7:p.Ile420MetfsTer23
ENST00000261416.11:c.1260_1263del	ENSP00000261416.7:p.Ile420MetfsTer23
ENST00000503312.5:c.136_139del
ENST00000504459.5:n.457_460del
ENST00000511181.5:c.585_588del	ENSP00000426285.1:p.Ile195MetfsTer23
ENST00000513336.5:c.196_199del
ENST00000513539.1:n.74-95_74-92del
NM_000521.3:c.1260_1263del	NP_000512.1:p.Ile420MetfsTer23
NM_001292004.1:c.585_588del	NP_001278933.1:p.Ile195MetfsTer23
NM_000521.4:c.1260_1263del MANE Select	NP_000512.2:p.Ile420MetfsTer23
NM_001292004.2:c.585_588del	NP_001278933.1:p.Ile195MetfsTer23