Canonical Allele Identifier: CA658823943

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 557851
• ClinVar RCV Id: RCV000674044 ; RCV001868276
• dbSNP Id: rs1186888836
• gnomAD v3: 17-42536473-G-GGGC
• gnomAD v4: 17-42536473-G-GGGC
• MyVariant Identifiers: chr17:g.40688491_40688492insGGC (hg19) ; chr17:g.42536484_42536486dup (hg38) ; chr17:g.42536473_42536474insGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536484_42536486dup , CM000679.2:g.42536484_42536486dup	GRCh38
NC_000017.10:g.40688502_40688504dup , CM000679.1:g.40688502_40688504dup	GRCh37
NC_000017.9:g.37942028_37942030dup	NCBI36
NG_011552.1:g.5552_5554dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.212_214dup MANE Select	ENSP00000225927.1:p.Gly71_Ala72insGly
ENST00000225927.6:c.212_214dup	ENSP00000225927.1:p.Gly71_Ala72insGly
NM_000263.3:c.212_214dup	NP_000254.2:p.Gly71_Ala72insGly
XM_024450771.1:c.212_214dup	XP_024306539.1:p.Gly71_Ala72insGly
NM_000263.4:c.212_214dup MANE Select	NP_000254.2:p.Gly71_Ala72insGly