Canonical Allele Identifier: CA2964013750

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537518del , CM000679.2:g.42537518del	GRCh38
NC_000017.10:g.40689536del , CM000679.1:g.40689536del	GRCh37
NC_000017.9:g.37943062del	NCBI36
NG_011552.1:g.6586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.504del MANE Select	ENSP00000225927.1:p.Trp168Ter
ENST00000225927.6:c.504del	ENSP00000225927.1:p.Trp168Ter
ENST00000586516.5:c.134-821del
ENST00000590358.1:c.192del	ENSP00000466892.1:p.Trp64Ter
ENST00000591587.1:c.127-821del	ENSP00000467836.1:n.127-821del
NM_000263.3:c.504del	NP_000254.2:p.Trp168Ter
XM_006721920.2:c.-239del	XP_006721983.1:n.-239del
XM_011524840.1:c.-239del	XP_011523142.1:n.-239del
XM_017024687.1:c.-239del	XP_016880176.1:n.-239del
XM_024450771.1:c.561del	XP_024306539.1:p.Trp187Ter
XM_024450772.1:c.-239del	XP_024306540.1:n.-239del
NM_000263.4:c.504del MANE Select	NP_000254.2:p.Trp168Ter