Canonical Allele Identifier: CA2580093761

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2431999
• ClinVar RCV Id: RCV003135306

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543921delinsTT , CM000679.2:g.42543921delinsTT	GRCh38
NC_000017.10:g.40695939delinsTT , CM000679.1:g.40695939delinsTT	GRCh37
NC_000017.9:g.37949465delinsTT	NCBI36
NG_011552.1:g.12989delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1915delinsTT MANE Select	ENSP00000225927.1:p.Glu639LeufsTer?
ENST00000225927.6:c.1915delinsTT	ENSP00000225927.1:p.Glu639LeufsTer?
ENST00000591587.1:c.1253delinsTT	ENSP00000467836.1:n.1253delinsTT
NM_000263.3:c.1915delinsTT	NP_000254.2:p.Glu639LeufsTer?
XM_006721920.2:c.1084delinsTT	XP_006721983.1:p.Glu362LeufsTer?
XM_011524840.1:c.916delinsTT	XP_011523142.1:p.Glu306LeufsTer?
XM_017024687.1:c.1084delinsTT	XP_016880176.1:p.Glu362LeufsTer?
XM_024450771.1:c.1972delinsTT	XP_024306539.1:p.Glu658LeufsTer?
XM_024450772.1:c.916delinsTT	XP_024306540.1:p.Glu306LeufsTer?
NM_000263.4:c.1915delinsTT MANE Select	NP_000254.2:p.Glu639LeufsTer?