Canonical Allele Identifier: CA2580093733

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2165248
• ClinVar RCV Id: RCV003088440
• gnomAD v4: 17-42536301-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536306dup , CM000679.2:g.42536306dup	GRCh38
NC_000017.10:g.40688324dup , CM000679.1:g.40688324dup	GRCh37
NC_000017.9:g.37941850dup	NCBI36
NG_011552.1:g.5374dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.34dup MANE Select	ENSP00000225927.1:p.Val12GlyfsTer?
ENST00000225927.6:c.34dup	ENSP00000225927.1:p.Val12GlyfsTer?
NM_000263.3:c.34dup	NP_000254.2:p.Val12GlyfsTer?
XM_024450771.1:c.34dup	XP_024306539.1:p.Val12GlyfsTer?
NM_000263.4:c.34dup MANE Select	NP_000254.2:p.Val12GlyfsTer?