Canonical Allele Identifier: CA2843206020

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543406del , CM000679.2:g.42543406del	GRCh38
NC_000017.10:g.40695424del , CM000679.1:g.40695424del	GRCh37
NC_000017.9:g.37948950del	NCBI36
NG_011552.1:g.12474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1400del MANE Select	ENSP00000225927.1:p.Pro467GlnfsTer9
ENST00000225927.6:c.1400del	ENSP00000225927.1:p.Pro467GlnfsTer9
ENST00000591587.1:c.738del	ENSP00000467836.1:n.738del
ENST00000592454.1:c.439del
NM_000263.3:c.1400del	NP_000254.2:p.Pro467GlnfsTer9
XM_006721920.2:c.569del	XP_006721983.1:p.Pro190GlnfsTer9
XM_011524840.1:c.401del	XP_011523142.1:p.Pro134GlnfsTer9
XM_017024687.1:c.569del	XP_016880176.1:p.Pro190GlnfsTer9
XM_024450771.1:c.1457del	XP_024306539.1:p.Pro486GlnfsTer9
XM_024450772.1:c.401del	XP_024306540.1:p.Pro134GlnfsTer9
NM_000263.4:c.1400del MANE Select	NP_000254.2:p.Pro467GlnfsTer9