Canonical Allele Identifier: CA2573154145
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 1454105
ClinVar RCV Id: RCV001939409
dbSNP Id: rs2143076795
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536524_42536537del , CM000679.2:g.42536524_42536537del GRCh38
NC_000017.10:g.40688542_40688555del , CM000679.1:g.40688542_40688555del GRCh37
NC_000017.9:g.37942068_37942081del NCBI36
NG_011552.1:g.5592_5605del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.252_265del MANE Select ENSP00000225927.1:p.Ala86ProfsTer?
ENST00000225927.6:c.252_265del ENSP00000225927.1:p.Ala86ProfsTer?
NM_000263.3:c.252_265del NP_000254.2:p.Ala86ProfsTer?
XM_024450771.1:c.252_265del XP_024306539.1:p.Ala86ProfsTer?
NM_000263.4:c.252_265del MANE Select NP_000254.2:p.Ala86ProfsTer?
Search 100 bp 5'
Search 100 bp 3'