Canonical Allele Identifier: CA658823941
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 555495
ClinVar RCV Id: RCV000671324
dbSNP Id: rs1555621432
MyVariant Identifiers: chr17:g.42536465del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536465del , CM000679.2:g.42536465del GRCh38
NC_000017.10:g.40688483del , CM000679.1:g.40688483del GRCh37
NC_000017.9:g.37942009del NCBI36
NG_011552.1:g.5533del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.193del MANE Select ENSP00000225927.1:p.Tyr65ThrfsTer?
ENST00000225927.6:c.193del ENSP00000225927.1:p.Tyr65ThrfsTer?
NM_000263.3:c.193del NP_000254.2:p.Tyr65ThrfsTer?
XM_024450771.1:c.193del XP_024306539.1:p.Tyr65ThrfsTer?
NM_000263.4:c.193del MANE Select NP_000254.2:p.Tyr65ThrfsTer?
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