Canonical Allele Identifier: CA2260529230

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541233_42541234delinsGC , CM000679.2:g.42541233_42541234delinsGC	GRCh38
NC_000017.10:g.40693251_40693252delinsGC , CM000679.1:g.40693251_40693252delinsGC	GRCh37
NC_000017.9:g.37946777_37946778delinsGC	NCBI36
NG_011552.1:g.10301_10302delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1021+27_1021+28delinsGC MANE Select	ENSP00000225927.1:n.1021+27_1021+28delinsGC
ENST00000225927.6:c.1021+27_1021+28delinsGC	ENSP00000225927.1:n.1021+27_1021+28delinsGC
ENST00000591587.1:c.360-1795_360-1794delinsGC	ENSP00000467836.1:n.360-1795_360-1794delinsGC
ENST00000592454.1:c.116+27_116+28delinsGC
NM_000263.3:c.1021+27_1021+28delinsGC	NP_000254.2:n.1021+27_1021+28delinsGC
XM_006721920.2:c.190+27_190+28delinsGC	XP_006721983.1:n.190+27_190+28delinsGC
XM_011524840.1:c.23-1795_23-1794delinsGC	XP_011523142.1:n.23-1795_23-1794delinsGC
XM_017024687.1:c.190+27_190+28delinsGC	XP_016880176.1:n.190+27_190+28delinsGC
XM_024450771.1:c.1078+27_1078+28delinsGC	XP_024306539.1:n.1078+27_1078+28delinsGC
XM_024450772.1:c.23-1795_23-1794delinsGC	XP_024306540.1:n.23-1795_23-1794delinsGC
NM_000263.4:c.1021+27_1021+28delinsGC MANE Select	NP_000254.2:n.1021+27_1021+28delinsGC