Canonical Allele Identifier: CA2260529181

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541150_42541152delinsCAG , CM000679.2:g.42541150_42541152delinsCAG	GRCh38
NC_000017.10:g.40693168_40693170delinsCAG , CM000679.1:g.40693168_40693170delinsCAG	GRCh37
NC_000017.9:g.37946694_37946696delinsCAG	NCBI36
NG_011552.1:g.10218_10220delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.965_967delinsCAG MANE Select	ENSP00000225927.1:p.Ser322=
ENST00000225927.6:c.965_967delinsCAG	ENSP00000225927.1:p.Ser322=
ENST00000591587.1:c.360-1878_360-1876delinsCAG	ENSP00000467836.1:n.360-1878_360-1876delinsCAG
ENST00000592454.1:c.60_62delinsCAG
NM_000263.3:c.965_967delinsCAG	NP_000254.2:p.Ser322=
XM_006721920.2:c.134_136delinsCAG	XP_006721983.1:p.Ser45=
XM_011524840.1:c.23-1878_23-1876delinsCAG	XP_011523142.1:n.23-1878_23-1876delinsCAG
XM_017024687.1:c.134_136delinsCAG	XP_016880176.1:p.Ser45=
XM_024450771.1:c.1022_1024delinsCAG	XP_024306539.1:p.Ser341=
XM_024450772.1:c.23-1878_23-1876delinsCAG	XP_024306540.1:n.23-1878_23-1876delinsCAG
NM_000263.4:c.965_967delinsCAG MANE Select	NP_000254.2:p.Ser322=