Canonical Allele Identifier: CA2838857970

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543654del , CM000679.2:g.42543654del	GRCh38
NC_000017.10:g.40695672del , CM000679.1:g.40695672del	GRCh37
NC_000017.9:g.37949198del	NCBI36
NG_011552.1:g.12722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1648del MANE Select	ENSP00000225927.1:p.Leu550TrpfsTer?
ENST00000225927.6:c.1648del	ENSP00000225927.1:p.Leu550TrpfsTer?
ENST00000591587.1:c.986del	ENSP00000467836.1:n.986del
NM_000263.3:c.1648del	NP_000254.2:p.Leu550TrpfsTer?
XM_006721920.2:c.817del	XP_006721983.1:p.Leu273TrpfsTer?
XM_011524840.1:c.649del	XP_011523142.1:p.Leu217TrpfsTer?
XM_017024687.1:c.817del	XP_016880176.1:p.Leu273TrpfsTer?
XM_024450771.1:c.1705del	XP_024306539.1:p.Leu569TrpfsTer?
XM_024450772.1:c.649del	XP_024306540.1:p.Leu217TrpfsTer?
NM_000263.4:c.1648del MANE Select	NP_000254.2:p.Leu550TrpfsTer?