Canonical Allele Identifier: CA2573153968

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1384177
• ClinVar RCV Id: RCV001895807
• dbSNP Id: rs2143088088

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538704del , CM000679.2:g.42538704del	GRCh38
NC_000017.10:g.40690722del , CM000679.1:g.40690722del	GRCh37
NC_000017.9:g.37944248del	NCBI36
NG_011552.1:g.7772del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.713del MANE Select	ENSP00000225927.1:p.Met238ArgfsTer?
ENST00000225927.6:c.713del	ENSP00000225927.1:p.Met238ArgfsTer?
ENST00000586516.5:c.315del
ENST00000591587.1:c.308del	ENSP00000467836.1:p.Met103ArgfsTer?
NM_000263.3:c.713del	NP_000254.2:p.Met238ArgfsTer?
XM_006721920.2:c.-30del	XP_006721983.1:n.-30del
XM_011524840.1:c.-30del	XP_011523142.1:n.-30del
XM_017024687.1:c.-30del	XP_016880176.1:n.-30del
XM_024450771.1:c.770del	XP_024306539.1:p.Met257ArgfsTer?
XM_024450772.1:c.-30del	XP_024306540.1:n.-30del
NM_000263.4:c.713del MANE Select	NP_000254.2:p.Met238ArgfsTer?