×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA772108922
Gene: NAGLU
HGNC
NCBI
Linked Data
dbSNP Id:
rs1409454052
gnomAD v4:
17-42536236-AC-A
MyVariant Identifiers:
chr17:g.40688255del (hg19)
chr17:g.42536237del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42536241del , CM000679.2:g.42536241del
GRCh38
NC_000017.10:g.40688259del , CM000679.1:g.40688259del
GRCh37
NC_000017.9:g.37941785del
NCBI36
NG_011552.1:g.5309del
Transcript Alleles
HGVS
Amino-acid change
ENST00000225927.6:c.-32del
ENSP00000225927.1:n.-32del
NM_000263.3:c.-32del
NP_000254.2:n.-32del
XM_024450771.1:c.-32del
XP_024306539.1:n.-32del
Search 100 bp 5'
Search 100 bp 3'