Canonical Allele Identifier: CA2260529120

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541016_42541020delinsCTCCT , CM000679.2:g.42541016_42541020delinsCTCCT	GRCh38
NC_000017.10:g.40693034_40693038delinsCTCCT , CM000679.1:g.40693034_40693038delinsCTCCT	GRCh37
NC_000017.9:g.37946560_37946564delinsCTCCT	NCBI36
NG_011552.1:g.10084_10088delinsCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.831_835delinsCTCCT MANE Select	ENSP00000225927.1:p.Cys277=
ENST00000225927.6:c.831_835delinsCTCCT	ENSP00000225927.1:p.Cys277=
ENST00000586516.5:c.433_437delinsCTCCT
ENST00000591587.1:c.360-2012_360-2008delinsCTCCT	ENSP00000467836.1:n.360-2012_360-2008delinsCTCCT
NM_000263.3:c.831_835delinsCTCCT	NP_000254.2:p.Cys277=
XM_006721920.2:c.23-23_23-19delinsCTCCT	XP_006721983.1:n.23-23_23-19delinsCTCCT
XM_011524840.1:c.23-2012_23-2008delinsCTCCT	XP_011523142.1:n.23-2012_23-2008delinsCTCCT
XM_017024687.1:c.23-23_23-19delinsCTCCT	XP_016880176.1:n.23-23_23-19delinsCTCCT
XM_024450771.1:c.888_892delinsCTCCT	XP_024306539.1:p.Cys296=
XM_024450772.1:c.23-2012_23-2008delinsCTCCT	XP_024306540.1:n.23-2012_23-2008delinsCTCCT
NM_000263.4:c.831_835delinsCTCCT MANE Select	NP_000254.2:p.Cys277=