Canonical Allele Identifier: CA2839670840

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543645del , CM000679.2:g.42543645del	GRCh38
NC_000017.10:g.40695663del , CM000679.1:g.40695663del	GRCh37
NC_000017.9:g.37949189del	NCBI36
NG_011552.1:g.12713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1639del MANE Select	ENSP00000225927.1:p.Ala547LeufsTer?
ENST00000225927.6:c.1639del	ENSP00000225927.1:p.Ala547LeufsTer?
ENST00000591587.1:c.977del	ENSP00000467836.1:n.977del
NM_000263.3:c.1639del	NP_000254.2:p.Ala547LeufsTer?
XM_006721920.2:c.808del	XP_006721983.1:p.Ala270LeufsTer?
XM_011524840.1:c.640del	XP_011523142.1:p.Ala214LeufsTer?
XM_017024687.1:c.808del	XP_016880176.1:p.Ala270LeufsTer?
XM_024450771.1:c.1696del	XP_024306539.1:p.Ala566LeufsTer?
XM_024450772.1:c.640del	XP_024306540.1:p.Ala214LeufsTer?
NM_000263.4:c.1639del MANE Select	NP_000254.2:p.Ala547LeufsTer?