Canonical Allele Identifier: CA2260529193

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541178_42541181delinsCACT , CM000679.2:g.42541178_42541181delinsCACT	GRCh38
NC_000017.10:g.40693196_40693199delinsCACT , CM000679.1:g.40693196_40693199delinsCACT	GRCh37
NC_000017.9:g.37946722_37946725delinsCACT	NCBI36
NG_011552.1:g.10246_10249delinsCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.993_996delinsCACT MANE Select	ENSP00000225927.1:p.Thr331=
ENST00000225927.6:c.993_996delinsCACT	ENSP00000225927.1:p.Thr331=
ENST00000591587.1:c.360-1850_360-1847delinsCACT	ENSP00000467836.1:n.360-1850_360-1847delinsCACT
ENST00000592454.1:c.88_91delinsCACT
NM_000263.3:c.993_996delinsCACT	NP_000254.2:p.Thr331=
XM_006721920.2:c.162_165delinsCACT	XP_006721983.1:p.Thr54=
XM_011524840.1:c.23-1850_23-1847delinsCACT	XP_011523142.1:n.23-1850_23-1847delinsCACT
XM_017024687.1:c.162_165delinsCACT	XP_016880176.1:p.Thr54=
XM_024450771.1:c.1050_1053delinsCACT	XP_024306539.1:p.Thr350=
XM_024450772.1:c.23-1850_23-1847delinsCACT	XP_024306540.1:n.23-1850_23-1847delinsCACT
NM_000263.4:c.993_996delinsCACT MANE Select	NP_000254.2:p.Thr331=