Canonical Allele Identifier: CA2260527921

Gene: NAGLU

Linked Data

• dbSNP Id: rs554253378
• gnomAD v4: 17-42538583-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538589del , CM000679.2:g.42538589del	GRCh38
NC_000017.10:g.40690607del , CM000679.1:g.40690607del	GRCh37
NC_000017.9:g.37944133del	NCBI36
NG_011552.1:g.7657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.679-81del MANE Select	ENSP00000225927.1:n.679-81del
ENST00000225927.6:c.679-81del	ENSP00000225927.1:n.679-81del
ENST00000586516.5:c.281-81del
ENST00000591587.1:c.274-81del	ENSP00000467836.1:n.274-81del
NM_000263.3:c.679-81del	NP_000254.2:n.679-81del
XM_006721920.2:c.-64-81del	XP_006721983.1:n.-64-81del
XM_011524840.1:c.-64-81del	XP_011523142.1:n.-64-81del
XM_017024687.1:c.-64-81del	XP_016880176.1:n.-64-81del
XM_024450771.1:c.736-81del	XP_024306539.1:n.736-81del
XM_024450772.1:c.-64-81del	XP_024306540.1:n.-64-81del
NM_000263.4:c.679-81del MANE Select	NP_000254.2:n.679-81del