Canonical Allele Identifier: CA8576852
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 2937895
ClinVar RCV Id: RCV003794525
dbSNP Id: rs753375289
ExAC: 17:40690788 AC / A
gnomAD v2: 17-40690788-AC-A
gnomAD v3: 17-42538770-AC-A
gnomAD v4: 17-42538770-AC-A
MyVariant Identifiers: chr17:g.40690789del (hg19) chr17:g.42538771del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42538775del , CM000679.2:g.42538775del GRCh38
NC_000017.10:g.40690793del , CM000679.1:g.40690793del GRCh37
NC_000017.9:g.37944319del NCBI36
NG_011552.1:g.7843del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.764+20del MANE Select ENSP00000225927.1:n.764+20del
ENST00000225927.6:c.764+20del ENSP00000225927.1:n.764+20del
ENST00000586516.5:c.366+20del
ENST00000591587.1:c.359+20del ENSP00000467836.1:n.359+20del
NM_000263.3:c.764+20del NP_000254.2:n.764+20del
XM_006721920.2:c.22+20del XP_006721983.1:n.22+20del
XM_011524840.1:c.22+20del XP_011523142.1:n.22+20del
XM_017024687.1:c.22+20del XP_016880176.1:n.22+20del
XM_024450771.1:c.821+20del XP_024306539.1:n.821+20del
XM_024450772.1:c.22+20del XP_024306540.1:n.22+20del
NM_000263.4:c.764+20del MANE Select NP_000254.2:n.764+20del
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