Canonical Allele Identifier: CA2839670839

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543336dup , CM000679.2:g.42543336dup	GRCh38
NC_000017.10:g.40695354dup , CM000679.1:g.40695354dup	GRCh37
NC_000017.9:g.37948880dup	NCBI36
NG_011552.1:g.12404dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1330dup MANE Select	ENSP00000225927.1:p.Ala444GlyfsTer17
ENST00000225927.6:c.1330dup	ENSP00000225927.1:p.Ala444GlyfsTer17
ENST00000591587.1:c.668dup	ENSP00000467836.1:n.668dup
ENST00000592454.1:c.369dup
NM_000263.3:c.1330dup	NP_000254.2:p.Ala444GlyfsTer17
XM_006721920.2:c.499dup	XP_006721983.1:p.Ala167GlyfsTer17
XM_011524840.1:c.331dup	XP_011523142.1:p.Ala111GlyfsTer17
XM_017024687.1:c.499dup	XP_016880176.1:p.Ala167GlyfsTer17
XM_024450771.1:c.1387dup	XP_024306539.1:p.Ala463GlyfsTer17
XM_024450772.1:c.331dup	XP_024306540.1:p.Ala111GlyfsTer17
NM_000263.4:c.1330dup MANE Select	NP_000254.2:p.Ala444GlyfsTer17