Canonical Allele Identifier: CA115047

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1564
• ClinVar RCV Id: RCV000001630 ; RCV000626637 ; RCV001047802 ; RCV001588794
• dbSNP Id: rs483352897
• ExAC: 17:40689534 TGGAGCGGCCA / T
• gnomAD v2: 17-40689534-TGGAGCGGCCA-T
• gnomAD v3: 17-42537516-TGGAGCGGCCA-T
• gnomAD v4: 17-42537516-TGGAGCGGCCA-T
• MyVariant Identifiers: chr17:g.40689535_40689544del (hg19) ; chr17:g.42537517_42537526del (hg38)
• PubMed: PMID:8650226

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42537521_42537530del , CM000679.2:g.42537521_42537530del	GRCh38
NC_000017.10:g.40689539_40689548del , CM000679.1:g.40689539_40689548del	GRCh37
NC_000017.9:g.37943065_37943074del	NCBI36
NG_011552.1:g.6589_6598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.507_516del MANE Select	ENSP00000225927.1:p.Ser169ArgfsTer13
ENST00000225927.6:c.507_516del	ENSP00000225927.1:p.Ser169ArgfsTer13
ENST00000586516.5:c.134-818_134-809del
ENST00000590358.1:c.195_204del	ENSP00000466892.1:p.Ser65ArgfsTer13
ENST00000591587.1:c.127-818_127-809del	ENSP00000467836.1:n.127-818_127-809del
NM_000263.3:c.507_516del	NP_000254.2:p.Ser169ArgfsTer13
XM_006721920.2:c.-236_-227del	XP_006721983.1:n.-236_-227del
XM_011524840.1:c.-236_-227del	XP_011523142.1:n.-236_-227del
XM_017024687.1:c.-236_-227del	XP_016880176.1:n.-236_-227del
XM_024450771.1:c.564_573del	XP_024306539.1:p.Ser188ArgfsTer13
XM_024450772.1:c.-236_-227del	XP_024306540.1:n.-236_-227del
NM_000263.4:c.507_516del MANE Select	NP_000254.2:p.Ser169ArgfsTer13