Canonical Allele Identifier: CA626218627
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 553743
ClinVar RCV Id: RCV000669256 RCV001855517 RCV003133495
dbSNP Id: rs1216052074
gnomAD v2: 17-40696205-CAAG-C
gnomAD v3: 17-42544187-CAAG-C
gnomAD v4: 17-42544187-CAAG-C
MyVariant Identifiers: chr17:g.40696206_40696208del (hg19) chr17:g.42544192_42544194del (hg38) chr17:g.42544188_42544190del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42544192_42544194del , CM000679.2:g.42544192_42544194del GRCh38
NC_000017.10:g.40696210_40696212del , CM000679.1:g.40696210_40696212del GRCh37
NC_000017.9:g.37949736_37949738del NCBI36
NG_011552.1:g.13260_13262del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.2186_2188del MANE Select ENSP00000225927.1:p.Lys729del
ENST00000225927.6:c.2186_2188del ENSP00000225927.1:p.Lys729del
NM_000263.3:c.2186_2188del NP_000254.2:p.Lys729del
XM_006721920.2:c.1355_1357del XP_006721983.1:p.Lys452del
XM_011524840.1:c.1187_1189del XP_011523142.1:p.Lys396del
XM_017024687.1:c.1355_1357del XP_016880176.1:p.Lys452del
XM_024450771.1:c.2243_2245del XP_024306539.1:p.Lys748del
XM_024450772.1:c.1187_1189del XP_024306540.1:p.Lys396del
NM_000263.4:c.2186_2188del MANE Select NP_000254.2:p.Lys729del
Search 100 bp 5'
Search 100 bp 3'