Canonical Allele Identifier: CA913012314

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40688658_40688664del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536640_42536646del , CM000679.2:g.42536640_42536646del	GRCh38
NC_000017.10:g.40688658_40688664del , CM000679.1:g.40688658_40688664del	GRCh37
NC_000017.9:g.37942184_37942190del	NCBI36
NG_011552.1:g.5708_5714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.368_374del MANE Select	ENSP00000225927.1:p.Glu123GlyfsTer30
ENST00000225927.6:c.368_374del	ENSP00000225927.1:p.Glu123GlyfsTer30
ENST00000586516.5:c.118_124del
ENST00000591587.1:c.111_117del	ENSP00000467836.1:p.Gly38ProfsTer10
NM_000263.3:c.368_374del	NP_000254.2:p.Glu123GlyfsTer30
XM_006721920.2:c.-375_-369del	XP_006721983.1:n.-375_-369del
XM_011524840.1:c.-375_-369del	XP_011523142.1:n.-375_-369del
XM_024450771.1:c.368_374del	XP_024306539.1:p.Glu123GlyfsTer?
NM_000263.4:c.368_374del MANE Select	NP_000254.2:p.Glu123GlyfsTer30