Canonical Allele Identifier: CA2580613139

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2131502
• ClinVar RCV Id: RCV003061973

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543746_42543748del , CM000679.2:g.42543746_42543748del	GRCh38
NC_000017.10:g.40695764_40695766del , CM000679.1:g.40695764_40695766del	GRCh37
NC_000017.9:g.37949290_37949292del	NCBI36
NG_011552.1:g.12814_12816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1740_1742del MANE Select	ENSP00000225927.1:p.Arg580del
ENST00000225927.6:c.1740_1742del	ENSP00000225927.1:p.Arg580del
ENST00000591587.1:c.1078_1080del	ENSP00000467836.1:n.1078_1080del
NM_000263.3:c.1740_1742del	NP_000254.2:p.Arg580del
XM_006721920.2:c.909_911del	XP_006721983.1:p.Arg303del
XM_011524840.1:c.741_743del	XP_011523142.1:p.Arg247del
XM_017024687.1:c.909_911del	XP_016880176.1:p.Arg303del
XM_024450771.1:c.1797_1799del	XP_024306539.1:p.Arg599del
XM_024450772.1:c.741_743del	XP_024306540.1:p.Arg247del
NM_000263.4:c.1740_1742del MANE Select	NP_000254.2:p.Arg580del