Canonical Allele Identifier: CA2809525049

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543364dup , CM000679.2:g.42543364dup	GRCh38
NC_000017.10:g.40695382dup , CM000679.1:g.40695382dup	GRCh37
NC_000017.9:g.37948908dup	NCBI36
NG_011552.1:g.12432dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1358dup MANE Select	ENSP00000225927.1:p.Val454GlyfsTer7
ENST00000225927.6:c.1358dup	ENSP00000225927.1:p.Val454GlyfsTer7
ENST00000591587.1:c.696dup	ENSP00000467836.1:n.696dup
ENST00000592454.1:c.397dup
NM_000263.3:c.1358dup	NP_000254.2:p.Val454GlyfsTer7
XM_006721920.2:c.527dup	XP_006721983.1:p.Val177GlyfsTer7
XM_011524840.1:c.359dup	XP_011523142.1:p.Val121GlyfsTer7
XM_017024687.1:c.527dup	XP_016880176.1:p.Val177GlyfsTer7
XM_024450771.1:c.1415dup	XP_024306539.1:p.Val473GlyfsTer7
XM_024450772.1:c.359dup	XP_024306540.1:p.Val121GlyfsTer7
NM_000263.4:c.1358dup MANE Select	NP_000254.2:p.Val454GlyfsTer7