Canonical Allele Identifier: CA983827467

Gene: NAGLU

Linked Data

• dbSNP Id: rs2092905330
• gnomAD v3: 17-42536226-GGGCCGCCCCACCCCCT-G
• gnomAD v4: 17-42536226-GGGCCGCCCCACCCCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536232_42536247del , CM000679.2:g.42536232_42536247del	GRCh38
NC_000017.10:g.40688250_40688265del , CM000679.1:g.40688250_40688265del	GRCh37
NC_000017.9:g.37941776_37941791del	NCBI36
NG_011552.1:g.5300_5315del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.6:c.-41_-26del	ENSP00000225927.1:n.-41_-26del
NM_000263.3:c.-41_-26del	NP_000254.2:n.-41_-26del
XM_024450771.1:c.-41_-26del	XP_024306539.1:n.-41_-26del