Canonical Allele Identifier: CA2260526881

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536670_42536671delinsCT , CM000679.2:g.42536670_42536671delinsCT	GRCh38
NC_000017.10:g.40688688_40688689delinsCT , CM000679.1:g.40688688_40688689delinsCT	GRCh37
NC_000017.9:g.37942214_37942215delinsCT	NCBI36
NG_011552.1:g.5738_5739delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.383+15_383+16delinsCT MANE Select	ENSP00000225927.1:n.383+15_383+16delinsCT
ENST00000225927.6:c.383+15_383+16delinsCT	ENSP00000225927.1:n.383+15_383+16delinsCT
ENST00000586516.5:c.133+15_133+16delinsCT
ENST00000591587.1:c.126+15_126+16delinsCT	ENSP00000467836.1:n.126+15_126+16delinsCT
NM_000263.3:c.383+15_383+16delinsCT	NP_000254.2:n.383+15_383+16delinsCT
XM_006721920.2:c.-360+15_-360+16delinsCT	XP_006721983.1:n.-360+15_-360+16delinsCT
XM_011524840.1:c.-360+15_-360+16delinsCT	XP_011523142.1:n.-360+15_-360+16delinsCT
XM_024450771.1:c.383+15_383+16delinsCT	XP_024306539.1:n.383+15_383+16delinsCT
NM_000263.4:c.383+15_383+16delinsCT MANE Select	NP_000254.2:n.383+15_383+16delinsCT