Canonical Allele Identifier: CA2573153971

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1456478
• ClinVar RCV Id: RCV001951172
• dbSNP Id: rs2143099555

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541138_42541142del , CM000679.2:g.42541138_42541142del	GRCh38
NC_000017.10:g.40693156_40693160del , CM000679.1:g.40693156_40693160del	GRCh37
NC_000017.9:g.37946682_37946686del	NCBI36
NG_011552.1:g.10206_10210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.953_957del MANE Select	ENSP00000225927.1:p.Gln318ProfsTer17
ENST00000225927.6:c.953_957del	ENSP00000225927.1:p.Gln318ProfsTer17
ENST00000591587.1:c.360-1890_360-1886del	ENSP00000467836.1:n.360-1890_360-1886del
ENST00000592454.1:c.48_52del
NM_000263.3:c.953_957del	NP_000254.2:p.Gln318ProfsTer17
XM_006721920.2:c.122_126del	XP_006721983.1:p.Gln41ProfsTer17
XM_011524840.1:c.23-1890_23-1886del	XP_011523142.1:n.23-1890_23-1886del
XM_017024687.1:c.122_126del	XP_016880176.1:p.Gln41ProfsTer17
XM_024450771.1:c.1010_1014del	XP_024306539.1:p.Gln337ProfsTer17
XM_024450772.1:c.23-1890_23-1886del	XP_024306540.1:n.23-1890_23-1886del
NM_000263.4:c.953_957del MANE Select	NP_000254.2:p.Gln318ProfsTer17