Canonical Allele Identifier: CA626218536

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 554876
• ClinVar RCV Id: RCV000670584 ; RCV001861796
• dbSNP Id: rs1431589133
• gnomAD v2: 17-40688501-GGCGCGGCGCGCGTGCGGGT-G
• gnomAD v4: 17-42536483-GGCGCGGCGCGCGTGCGGGT-G
• MyVariant Identifiers: chr17:g.40688502_40688520del (hg19) ; chr17:g.42536491_42536509del (hg38) ; chr17:g.42536484_42536502del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536491_42536509del , CM000679.2:g.42536491_42536509del	GRCh38
NC_000017.10:g.40688509_40688527del , CM000679.1:g.40688509_40688527del	GRCh37
NC_000017.9:g.37942035_37942053del	NCBI36
NG_011552.1:g.5559_5577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.219_237del MANE Select	ENSP00000225927.1:p.Arg74ProfsTer?
ENST00000225927.6:c.219_237del	ENSP00000225927.1:p.Arg74ProfsTer?
NM_000263.3:c.219_237del	NP_000254.2:p.Arg74ProfsTer?
XM_024450771.1:c.219_237del	XP_024306539.1:p.Arg74ProfsTer?
NM_000263.4:c.219_237del MANE Select	NP_000254.2:p.Arg74ProfsTer?