Canonical Allele Identifier: CA2576295329
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536296_42536307del , CM000679.2:g.42536296_42536307del GRCh38
NC_000017.10:g.40688314_40688325del , CM000679.1:g.40688314_40688325del GRCh37
NC_000017.9:g.37941840_37941851del NCBI36
NG_011552.1:g.5364_5375del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.24_35del MANE Select ENSP00000225927.1:p.Ala9_Val12del
ENST00000225927.6:c.24_35del ENSP00000225927.1:p.Ala9_Val12del
NM_000263.3:c.24_35del NP_000254.2:p.Ala9_Val12del
XM_024450771.1:c.24_35del XP_024306539.1:p.Ala9_Val12del
NM_000263.4:c.24_35del MANE Select NP_000254.2:p.Ala9_Val12del