Canonical Allele Identifier: CA626218515

Gene: NAGLU

Linked Data

• dbSNP Id: rs1253870232
• gnomAD v2: 17-40688344-CG-C
• gnomAD v4: 17-42536326-CG-C
• MyVariant Identifiers: chr17:g.40688345del (hg19) ; chr17:g.42536327del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536331del , CM000679.2:g.42536331del	GRCh38
NC_000017.10:g.40688349del , CM000679.1:g.40688349del	GRCh37
NC_000017.9:g.37941875del	NCBI36
NG_011552.1:g.5399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.59del MANE Select	ENSP00000225927.1:p.Gly20AlafsTer?
ENST00000225927.6:c.59del	ENSP00000225927.1:p.Gly20AlafsTer?
NM_000263.3:c.59del	NP_000254.2:p.Gly20AlafsTer?
XM_024450771.1:c.59del	XP_024306539.1:p.Gly20AlafsTer?
NM_000263.4:c.59del MANE Select	NP_000254.2:p.Gly20AlafsTer?