Canonical Allele Identifier: CA626218626

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 2925622
• ClinVar RCV Id: RCV003783716
• dbSNP Id: rs1383530983
• gnomAD v2: 17-40696118-CA-C
• gnomAD v4: 17-42544100-CA-C
• MyVariant Identifiers: chr17:g.40696119del (hg19) ; chr17:g.42544101del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544105del , CM000679.2:g.42544105del	GRCh38
NC_000017.10:g.40696123del , CM000679.1:g.40696123del	GRCh37
NC_000017.9:g.37949649del	NCBI36
NG_011552.1:g.13173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2099del MANE Select	ENSP00000225927.1:p.Asn700MetfsTer?
ENST00000225927.6:c.2099del	ENSP00000225927.1:p.Asn700MetfsTer?
ENST00000591587.1:c.1437del	ENSP00000467836.1:n.1437del
NM_000263.3:c.2099del	NP_000254.2:p.Asn700MetfsTer?
XM_006721920.2:c.1268del	XP_006721983.1:p.Asn423MetfsTer?
XM_011524840.1:c.1100del	XP_011523142.1:p.Asn367MetfsTer?
XM_017024687.1:c.1268del	XP_016880176.1:p.Asn423MetfsTer?
XM_024450771.1:c.2156del	XP_024306539.1:p.Asn719MetfsTer?
XM_024450772.1:c.1100del	XP_024306540.1:p.Asn367MetfsTer?
NM_000263.4:c.2099del MANE Select	NP_000254.2:p.Asn700MetfsTer?