Canonical Allele Identifier: CA658823935
Gene: NAGLU HGNC NCBI

Linked Data

ClinVar Variation Id: 554127
ClinVar RCV Id: RCV000669698
dbSNP Id: rs1555621396
gnomAD v4: 17-42536274-T-TGGAGGC
MyVariant Identifiers: chr17:g.42536277_42536282dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536277_42536282dup , CM000679.2:g.42536277_42536282dup GRCh38
NC_000017.10:g.40688295_40688300dup , CM000679.1:g.40688295_40688300dup GRCh37
NC_000017.9:g.37941821_37941826dup NCBI36
NG_011552.1:g.5345_5350dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.7:c.5_10dup MANE Select ENSP00000225927.1:p.Ala3_Val4insGluAla
ENST00000225927.6:c.5_10dup ENSP00000225927.1:p.Ala3_Val4insGluAla
NM_000263.3:c.5_10dup NP_000254.2:p.Ala3_Val4insGluAla
XM_024450771.1:c.5_10dup XP_024306539.1:p.Ala3_Val4insGluAla
NM_000263.4:c.5_10dup MANE Select NP_000254.2:p.Ala3_Val4insGluAla
Search 100 bp 5'
Search 100 bp 3'