Canonical Allele Identifier: CA772108916
Gene: NAGLU HGNC NCBI

Linked Data

dbSNP Id: rs1409454052
gnomAD v2: 17-40688254-A-AC
gnomAD v3: 17-42536236-A-AC
gnomAD v4: 17-42536236-A-AC
MyVariant Identifiers: chr17:g.40688254_40688255insC (hg19) chr17:g.42536236_42536237insC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42536241dup , CM000679.2:g.42536241dup GRCh38
NC_000017.10:g.40688259dup , CM000679.1:g.40688259dup GRCh37
NC_000017.9:g.37941785dup NCBI36
NG_011552.1:g.5309dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225927.6:c.-32dup ENSP00000225927.1:n.-32dup
NM_000263.3:c.-32dup NP_000254.2:n.-32dup
XM_024450771.1:c.-32dup XP_024306539.1:n.-32dup
Search 100 bp 5'
Search 100 bp 3'