Canonical Allele Identifier: CA626055659

Gene: NAGLU

Linked Data

• dbSNP Id: rs1230310759
• gnomAD v2: 17-40688246-GCCGCCCCACC-G
• MyVariant Identifiers: chr17:g.40688247_40688256del (hg19) ; chr17:g.42536229_42536238del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536231_42536240del , CM000679.2:g.42536231_42536240del	GRCh38
NC_000017.10:g.40688249_40688258del , CM000679.1:g.40688249_40688258del	GRCh37
NC_000017.9:g.37941775_37941784del	NCBI36
NG_011552.1:g.5299_5308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.6:c.-42_-33del	ENSP00000225927.1:n.-42_-33del
NM_000263.3:c.-42_-33del	NP_000254.2:n.-42_-33del
XM_024450771.1:c.-42_-33del	XP_024306539.1:n.-42_-33del