Canonical Allele Identifier: CA10588946
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 266016
ClinVar RCV Id: RCV000256406
dbSNP Id: rs886039895
MyVariant Identifiers: chr17:g.40695968dupG (hg19) chr17:g.42543950dupG (hg38)
PubMed: PMID:28844463
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42543950dup , CM000679.2:g.42543950dup GRCh38
NC_000017.10:g.40695968dup , CM000679.1:g.40695968dup GRCh37
NC_000017.9:g.37949494dup NCBI36
NG_011552.1:g.13018dup

Transcript Alleles

HGVS Amino-acid change
ENST00000225927.7:c.1944dup MANE Select ENSP00000225927.1:p.Trp649ValfsTer?
ENST00000225927.6:c.1944dup ENSP00000225927.1:p.Trp649ValfsTer?
ENST00000591587.1:c.1282dup ENSP00000467836.1:n.1282dup
NM_000263.3:c.1944dup NP_000254.2:p.Trp649ValfsTer?
XM_006721920.2:c.1113dup XP_006721983.1:p.Trp372ValfsTer?
XM_011524840.1:c.945dup XP_011523142.1:p.Trp316ValfsTer?
XM_017024687.1:c.1113dup XP_016880176.1:p.Trp372ValfsTer?
XM_024450771.1:c.2001dup XP_024306539.1:p.Trp668ValfsTer?
XM_024450772.1:c.945dup XP_024306540.1:p.Trp316ValfsTer?
NM_000263.4:c.1944dup MANE Select NP_000254.2:p.Trp649ValfsTer?
Search 100 bp 5'
Search 100 bp 3'