Canonical Allele Identifier: CA2741536695

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536638_42536639insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT , CM000679.2:g.42536638_42536639insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT	GRCh38
NC_000017.10:g.40688656_40688657insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT , CM000679.1:g.40688656_40688657insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT	GRCh37
NC_000017.9:g.37942182_37942183insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT	NCBI36
NG_011552.1:g.5706_5707insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.366_367insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT MANE Select	ENSP00000225927.1:p.Glu123ThrfsTer5
ENST00000225927.6:c.366_367insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT	ENSP00000225927.1:p.Glu123ThrfsTer5
ENST00000586516.5:c.116_117insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT
ENST00000591587.1:c.109_110insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT	ENSP00000467836.1:p.Arg37HisfsTer37
NM_000263.3:c.366_367insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT	NP_000254.2:p.Glu123ThrfsTer5
XM_006721920.2:c.-377_-376insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT	XP_006721983.1:n.-377_-376insACGTTTCGGCAATAGCGAGACTGCAGTGTTAC...
XM_011524840.1:c.-377_-376insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT	XP_011523142.1:n.-377_-376insACGTTTCGGCAATAGCGAGACTGCAGTGTTAC...
XM_024450771.1:c.366_367insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT	XP_024306539.1:p.Glu123ThrfsTer5
NM_000263.4:c.366_367insACGTTTCGGCAATAGCGAGACTGCAGTGTTACTGCGAGAAACTCACGTGGCT MANE Select	NP_000254.2:p.Glu123ThrfsTer5