Canonical Allele Identifier: CA626218514
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs1180903440
gnomAD v2: 17-40688338-CG-C
gnomAD v4: 17-42536320-CG-C
MyVariant Identifiers: chr17:g.40688339del (hg19) chr17:g.42536321del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536324del , CM000679.2:g.42536324del GRCh38
NC_000017.10:g.40688342del , CM000679.1:g.40688342del GRCh37
NC_000017.9:g.37941868del NCBI36
NG_011552.1:g.5392del

Transcript Alleles

HGVS Amino-acid change
ENST00000225927.7:c.52del MANE Select ENSP00000225927.1:p.Ala18ProfsTer?
ENST00000225927.6:c.52del ENSP00000225927.1:p.Ala18ProfsTer?
NM_000263.3:c.52del NP_000254.2:p.Ala18ProfsTer?
XM_024450771.1:c.52del XP_024306539.1:p.Ala18ProfsTer?
NM_000263.4:c.52del MANE Select NP_000254.2:p.Ala18ProfsTer?
Search 100 bp 5'
Search 100 bp 3'