Canonical Allele Identifier: CA2809524819
Gene: NAGLU HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536285del , CM000679.2:g.42536285del GRCh38
NC_000017.10:g.40688303del , CM000679.1:g.40688303del GRCh37
NC_000017.9:g.37941829del NCBI36
NG_011552.1:g.5353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.13del MANE Select ENSP00000225927.1:p.Ala5ArgfsTer?
ENST00000225927.6:c.13del ENSP00000225927.1:p.Ala5ArgfsTer?
NM_000263.3:c.13del NP_000254.2:p.Ala5ArgfsTer?
XM_024450771.1:c.13del XP_024306539.1:p.Ala5ArgfsTer?
NM_000263.4:c.13del MANE Select NP_000254.2:p.Ala5ArgfsTer?