Canonical Allele Identifier: CA2260529113

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541003_42541004delinsGT , CM000679.2:g.42541003_42541004delinsGT	GRCh38
NC_000017.10:g.40693021_40693022delinsGT , CM000679.1:g.40693021_40693022delinsGT	GRCh37
NC_000017.9:g.37946547_37946548delinsGT	NCBI36
NG_011552.1:g.10071_10072delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.818_819delinsGT MANE Select	ENSP00000225927.1:p.Cys273=
ENST00000225927.6:c.818_819delinsGT	ENSP00000225927.1:p.Cys273=
ENST00000586516.5:c.420_421delinsGT
ENST00000591587.1:c.360-2025_360-2024delinsGT	ENSP00000467836.1:n.360-2025_360-2024delinsGT
NM_000263.3:c.818_819delinsGT	NP_000254.2:p.Cys273=
XM_006721920.2:c.23-36_23-35delinsGT	XP_006721983.1:n.23-36_23-35delinsGT
XM_011524840.1:c.23-2025_23-2024delinsGT	XP_011523142.1:n.23-2025_23-2024delinsGT
XM_017024687.1:c.23-36_23-35delinsGT	XP_016880176.1:n.23-36_23-35delinsGT
XM_024450771.1:c.875_876delinsGT	XP_024306539.1:p.Cys292=
XM_024450772.1:c.23-2025_23-2024delinsGT	XP_024306540.1:n.23-2025_23-2024delinsGT
NM_000263.4:c.818_819delinsGT MANE Select	NP_000254.2:p.Cys273=