Canonical Allele Identifier: CA2260526792
Gene: NAGLU HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536513_42536531delinsACGGGCGTGGCGGCCGCCG , CM000679.2:g.42536513_42536531delinsACGGGCGTGGCGGCCGCCG GRCh38
NC_000017.10:g.40688531_40688549delinsACGGGCGTGGCGGCCGCCG , CM000679.1:g.40688531_40688549delinsACGGGCGTGGCGGCCGCCG GRCh37
NC_000017.9:g.37942057_37942075delinsACGGGCGTGGCGGCCGCCG NCBI36
NG_011552.1:g.5581_5599delinsACGGGCGTGGCGGCCGCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.241_259delinsACGGGCGTGGCGGCCGCCG MANE Select ENSP00000225927.1:p.Thr81=
ENST00000225927.6:c.241_259delinsACGGGCGTGGCGGCCGCCG ENSP00000225927.1:p.Thr81=
NM_000263.3:c.241_259delinsACGGGCGTGGCGGCCGCCG NP_000254.2:p.Thr81=
XM_024450771.1:c.241_259delinsACGGGCGTGGCGGCCGCCG XP_024306539.1:p.Thr81=
NM_000263.4:c.241_259delinsACGGGCGTGGCGGCCGCCG MANE Select NP_000254.2:p.Thr81=
Search 100 bp 5'
Search 100 bp 3'