Canonical Allele Identifier: CA2499224326

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1076543
• ClinVar RCV Id: RCV001390490
• dbSNP Id: rs2143075470

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536343_42536359del , CM000679.2:g.42536343_42536359del	GRCh38
NC_000017.10:g.40688361_40688377del , CM000679.1:g.40688361_40688377del	GRCh37
NC_000017.9:g.37941887_37941903del	NCBI36
NG_011552.1:g.5411_5427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.71_87del MANE Select	ENSP00000225927.1:p.Asp24GlyfsTer?
ENST00000225927.6:c.71_87del	ENSP00000225927.1:p.Asp24GlyfsTer?
NM_000263.3:c.71_87del	NP_000254.2:p.Asp24GlyfsTer?
XM_024450771.1:c.71_87del	XP_024306539.1:p.Asp24GlyfsTer?
NM_000263.4:c.71_87del MANE Select	NP_000254.2:p.Asp24GlyfsTer?