Canonical Allele Identifier: CA2260526864

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536640_42536646delinsAGGCCAC , CM000679.2:g.42536640_42536646delinsAGGCCAC	GRCh38
NC_000017.10:g.40688658_40688664delinsAGGCCAC , CM000679.1:g.40688658_40688664delinsAGGCCAC	GRCh37
NC_000017.9:g.37942184_37942190delinsAGGCCAC	NCBI36
NG_011552.1:g.5708_5714delinsAGGCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.368_374delinsAGGCCAC MANE Select	ENSP00000225927.1:p.Glu123=
ENST00000225927.6:c.368_374delinsAGGCCAC	ENSP00000225927.1:p.Glu123=
ENST00000586516.5:c.118_124delinsAGGCCAC
ENST00000591587.1:c.111_117delinsAGGCCAC	ENSP00000467836.1:p.Arg37=
NM_000263.3:c.368_374delinsAGGCCAC	NP_000254.2:p.Glu123=
XM_006721920.2:c.-375_-369delinsAGGCCAC	XP_006721983.1:n.-375_-369delinsAGGCCAC
XM_011524840.1:c.-375_-369delinsAGGCCAC	XP_011523142.1:n.-375_-369delinsAGGCCAC
XM_024450771.1:c.368_374delinsAGGCCAC	XP_024306539.1:p.Glu123=
NM_000263.4:c.368_374delinsAGGCCAC MANE Select	NP_000254.2:p.Glu123=