Canonical Allele Identifier: CA2260526674
Gene: NAGLU HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536295_42536301delinsCGGCGGT , CM000679.2:g.42536295_42536301delinsCGGCGGT GRCh38
NC_000017.10:g.40688313_40688319delinsCGGCGGT , CM000679.1:g.40688313_40688319delinsCGGCGGT GRCh37
NC_000017.9:g.37941839_37941845delinsCGGCGGT NCBI36
NG_011552.1:g.5363_5369delinsCGGCGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.23_29delinsCGGCGGT MANE Select ENSP00000225927.1:p.Ala8=
ENST00000225927.6:c.23_29delinsCGGCGGT ENSP00000225927.1:p.Ala8=
NM_000263.3:c.23_29delinsCGGCGGT NP_000254.2:p.Ala8=
XM_024450771.1:c.23_29delinsCGGCGGT XP_024306539.1:p.Ala8=
NM_000263.4:c.23_29delinsCGGCGGT MANE Select NP_000254.2:p.Ala8=
Search 100 bp 5'
Search 100 bp 3'