Canonical Allele Identifier: CA8577025

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1068849
• ClinVar RCV Id: RCV001380522
• dbSNP Id: rs749338526
• ExAC: 17:40695473 T / TG
• gnomAD v2: 17-40695473-T-TG
• gnomAD v4: 17-42543455-T-TG
• MyVariant Identifiers: chr17:g.40695473_40695474insG (hg19) ; chr17:g.42543455_42543456insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543459dup , CM000679.2:g.42543459dup	GRCh38
NC_000017.10:g.40695477dup , CM000679.1:g.40695477dup	GRCh37
NC_000017.9:g.37949003dup	NCBI36
NG_011552.1:g.12527dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1453dup MANE Select	ENSP00000225927.1:p.Val485GlyfsTer?
ENST00000225927.6:c.1453dup	ENSP00000225927.1:p.Val485GlyfsTer?
ENST00000591587.1:c.791dup	ENSP00000467836.1:n.791dup
ENST00000592454.1:c.492dup
NM_000263.3:c.1453dup	NP_000254.2:p.Val485GlyfsTer?
XM_006721920.2:c.622dup	XP_006721983.1:p.Val208GlyfsTer?
XM_011524840.1:c.454dup	XP_011523142.1:p.Val152GlyfsTer?
XM_017024687.1:c.622dup	XP_016880176.1:p.Val208GlyfsTer?
XM_024450771.1:c.1510dup	XP_024306539.1:p.Val504GlyfsTer?
XM_024450772.1:c.454dup	XP_024306540.1:p.Val152GlyfsTer?
NM_000263.4:c.1453dup MANE Select	NP_000254.2:p.Val485GlyfsTer?