Canonical Allele Identifier: CA2576276095

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2112262
• ClinVar RCV Id: RCV003034459

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544143dup , CM000679.2:g.42544143dup	GRCh38
NC_000017.10:g.40696161dup , CM000679.1:g.40696161dup	GRCh37
NC_000017.9:g.37949687dup	NCBI36
NG_011552.1:g.13211dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2137dup MANE Select	ENSP00000225927.1:p.Gln713ProfsTer?
ENST00000225927.6:c.2137dup	ENSP00000225927.1:p.Gln713ProfsTer?
ENST00000591587.1:c.1475dup	ENSP00000467836.1:n.1475dup
NM_000263.3:c.2137dup	NP_000254.2:p.Gln713ProfsTer?
XM_006721920.2:c.1306dup	XP_006721983.1:p.Gln436ProfsTer?
XM_011524840.1:c.1138dup	XP_011523142.1:p.Gln380ProfsTer?
XM_017024687.1:c.1306dup	XP_016880176.1:p.Gln436ProfsTer?
XM_024450771.1:c.2194dup	XP_024306539.1:p.Gln732ProfsTer?
XM_024450772.1:c.1138dup	XP_024306540.1:p.Gln380ProfsTer?
NM_000263.4:c.2137dup MANE Select	NP_000254.2:p.Gln713ProfsTer?