Canonical Allele Identifier: CA2637966149
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536486-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536487del , CM000679.2:g.42536487del GRCh38
NC_000017.10:g.40688505del , CM000679.1:g.40688505del GRCh37
NC_000017.9:g.37942031del NCBI36
NG_011552.1:g.5555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.215del MANE Select ENSP00000225927.1:p.Ala72GlyfsTer?
ENST00000225927.6:c.215del ENSP00000225927.1:p.Ala72GlyfsTer?
NM_000263.3:c.215del NP_000254.2:p.Ala72GlyfsTer?
XM_024450771.1:c.215del XP_024306539.1:p.Ala72GlyfsTer?
NM_000263.4:c.215del MANE Select NP_000254.2:p.Ala72GlyfsTer?
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Search 100 bp 3'