Canonical Allele Identifier: CA2260529194

Gene: NAGLU

Linked Data

• dbSNP Id: rs2092920941

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541179_42541181del , CM000679.2:g.42541179_42541181del	GRCh38
NC_000017.10:g.40693197_40693199del , CM000679.1:g.40693197_40693199del	GRCh37
NC_000017.9:g.37946723_37946725del	NCBI36
NG_011552.1:g.10247_10249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.994_996del MANE Select	ENSP00000225927.1:p.Thr332del
ENST00000225927.6:c.994_996del	ENSP00000225927.1:p.Thr332del
ENST00000591587.1:c.360-1849_360-1847del	ENSP00000467836.1:n.360-1849_360-1847del
ENST00000592454.1:c.89_91del
NM_000263.3:c.994_996del	NP_000254.2:p.Thr332del
XM_006721920.2:c.163_165del	XP_006721983.1:p.Thr55del
XM_011524840.1:c.23-1849_23-1847del	XP_011523142.1:n.23-1849_23-1847del
XM_017024687.1:c.163_165del	XP_016880176.1:p.Thr55del
XM_024450771.1:c.1051_1053del	XP_024306539.1:p.Thr351del
XM_024450772.1:c.23-1849_23-1847del	XP_024306540.1:n.23-1849_23-1847del
NM_000263.4:c.994_996del MANE Select	NP_000254.2:p.Thr332del