Canonical Allele Identifier: CA2637966440
Gene: NAGLU HGNC NCBI

Linked Data

gnomAD v4: 17-42536696-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536701del , CM000679.2:g.42536701del GRCh38
NC_000017.10:g.40688719del , CM000679.1:g.40688719del GRCh37
NC_000017.9:g.37942245del NCBI36
NG_011552.1:g.5769del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.383+46del MANE Select ENSP00000225927.1:n.383+46del
ENST00000225927.6:c.383+46del ENSP00000225927.1:n.383+46del
ENST00000586516.5:c.133+46del
ENST00000591587.1:c.126+46del ENSP00000467836.1:n.126+46del
NM_000263.3:c.383+46del NP_000254.2:n.383+46del
XM_006721920.2:c.-360+46del XP_006721983.1:n.-360+46del
XM_011524840.1:c.-360+46del XP_011523142.1:n.-360+46del
XM_024450771.1:c.383+46del XP_024306539.1:n.383+46del
NM_000263.4:c.383+46del MANE Select NP_000254.2:n.383+46del
Search 100 bp 5'
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