Canonical Allele Identifier: CA2260530373

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543626_42543627delinsGC , CM000679.2:g.42543626_42543627delinsGC	GRCh38
NC_000017.10:g.40695644_40695645delinsGC , CM000679.1:g.40695644_40695645delinsGC	GRCh37
NC_000017.9:g.37949170_37949171delinsGC	NCBI36
NG_011552.1:g.12694_12695delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1620_1621delinsGC MANE Select	ENSP00000225927.1:p.Trp540=
ENST00000225927.6:c.1620_1621delinsGC	ENSP00000225927.1:p.Trp540=
ENST00000591587.1:c.958_959delinsGC	ENSP00000467836.1:n.958_959delinsGC
NM_000263.3:c.1620_1621delinsGC	NP_000254.2:p.Trp540=
XM_006721920.2:c.789_790delinsGC	XP_006721983.1:p.Trp263=
XM_011524840.1:c.621_622delinsGC	XP_011523142.1:p.Trp207=
XM_017024687.1:c.789_790delinsGC	XP_016880176.1:p.Trp263=
XM_024450771.1:c.1677_1678delinsGC	XP_024306539.1:p.Trp559=
XM_024450772.1:c.621_622delinsGC	XP_024306540.1:p.Trp207=
NM_000263.4:c.1620_1621delinsGC MANE Select	NP_000254.2:p.Trp540=