Canonical Allele Identifier: CA2573054424

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1180829
• ClinVar RCV Id: RCV001814558
• dbSNP Id: rs2143113297

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543744_42543750dup , CM000679.2:g.42543744_42543750dup	GRCh38
NC_000017.10:g.40695762_40695768dup , CM000679.1:g.40695762_40695768dup	GRCh37
NC_000017.9:g.37949288_37949294dup	NCBI36
NG_011552.1:g.12812_12818dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1738_1744dup MANE Select	ENSP00000225927.1:p.Ala582GlufsTer22
ENST00000225927.6:c.1738_1744dup	ENSP00000225927.1:p.Ala582GlufsTer22
ENST00000591587.1:c.1076_1082dup	ENSP00000467836.1:n.1076_1082dup
NM_000263.3:c.1738_1744dup	NP_000254.2:p.Ala582GlufsTer22
XM_006721920.2:c.907_913dup	XP_006721983.1:p.Ala305GlufsTer22
XM_011524840.1:c.739_745dup	XP_011523142.1:p.Ala249GlufsTer22
XM_017024687.1:c.907_913dup	XP_016880176.1:p.Ala305GlufsTer22
XM_024450771.1:c.1795_1801dup	XP_024306539.1:p.Ala601GlufsTer22
XM_024450772.1:c.739_745dup	XP_024306540.1:p.Ala249GlufsTer22
NM_000263.4:c.1738_1744dup MANE Select	NP_000254.2:p.Ala582GlufsTer22