Canonical Allele Identifier: CA2260530609

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544097_42544098delinsTG , CM000679.2:g.42544097_42544098delinsTG	GRCh38
NC_000017.10:g.40696115_40696116delinsTG , CM000679.1:g.40696115_40696116delinsTG	GRCh37
NC_000017.9:g.37949641_37949642delinsTG	NCBI36
NG_011552.1:g.13165_13166delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2091_2092delinsTG MANE Select	ENSP00000225927.1:p.Phe697=
ENST00000225927.6:c.2091_2092delinsTG	ENSP00000225927.1:p.Phe697=
ENST00000591587.1:c.1429_1430delinsTG	ENSP00000467836.1:n.1429_1430delinsTG
NM_000263.3:c.2091_2092delinsTG	NP_000254.2:p.Phe697=
XM_006721920.2:c.1260_1261delinsTG	XP_006721983.1:p.Phe420=
XM_011524840.1:c.1092_1093delinsTG	XP_011523142.1:p.Phe364=
XM_017024687.1:c.1260_1261delinsTG	XP_016880176.1:p.Phe420=
XM_024450771.1:c.2148_2149delinsTG	XP_024306539.1:p.Phe716=
XM_024450772.1:c.1092_1093delinsTG	XP_024306540.1:p.Phe364=
NM_000263.4:c.2091_2092delinsTG MANE Select	NP_000254.2:p.Phe697=