Canonical Allele Identifier: CA2580093741
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 2024744
ClinVar RCV Id: RCV002847923
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536352_42536354dup , CM000679.2:g.42536352_42536354dup GRCh38
NC_000017.10:g.40688370_40688372dup , CM000679.1:g.40688370_40688372dup GRCh37
NC_000017.9:g.37941896_37941898dup NCBI36
NG_011552.1:g.5420_5422dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.80_82dup MANE Select ENSP00000225927.1:p.Arg27_Glu28insGly
ENST00000225927.6:c.80_82dup ENSP00000225927.1:p.Arg27_Glu28insGly
NM_000263.3:c.80_82dup NP_000254.2:p.Arg27_Glu28insGly
XM_024450771.1:c.80_82dup XP_024306539.1:p.Arg27_Glu28insGly
NM_000263.4:c.80_82dup MANE Select NP_000254.2:p.Arg27_Glu28insGly
Search 100 bp 5'
Search 100 bp 3'