Canonical Allele Identifier: CA2809525053

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543369_42543370insGCCGGTG , CM000679.2:g.42543369_42543370insGCCGGTG	GRCh38
NC_000017.10:g.40695387_40695388insGCCGGTG , CM000679.1:g.40695387_40695388insGCCGGTG	GRCh37
NC_000017.9:g.37948913_37948914insGCCGGTG	NCBI36
NG_011552.1:g.12437_12438insGCCGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1363_1364insGCCGGTG MANE Select	ENSP00000225927.1:p.Tyr455CysfsTer3
ENST00000225927.6:c.1363_1364insGCCGGTG	ENSP00000225927.1:p.Tyr455CysfsTer3
ENST00000591587.1:c.701_702insGCCGGTG	ENSP00000467836.1:n.701_702insGCCGGTG
ENST00000592454.1:c.402_403insGCCGGTG
NM_000263.3:c.1363_1364insGCCGGTG	NP_000254.2:p.Tyr455CysfsTer3
XM_006721920.2:c.532_533insGCCGGTG	XP_006721983.1:p.Tyr178CysfsTer3
XM_011524840.1:c.364_365insGCCGGTG	XP_011523142.1:p.Tyr122CysfsTer3
XM_017024687.1:c.532_533insGCCGGTG	XP_016880176.1:p.Tyr178CysfsTer3
XM_024450771.1:c.1420_1421insGCCGGTG	XP_024306539.1:p.Tyr474CysfsTer3
XM_024450772.1:c.364_365insGCCGGTG	XP_024306540.1:p.Tyr122CysfsTer3
NM_000263.4:c.1363_1364insGCCGGTG MANE Select	NP_000254.2:p.Tyr455CysfsTer3