Canonical Allele Identifier: CA2637976319

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42544282-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544284_42544285del , CM000679.2:g.42544284_42544285del	GRCh38
NC_000017.10:g.40696302_40696303del , CM000679.1:g.40696302_40696303del	GRCh37
NC_000017.9:g.37949828_37949829del	NCBI36
NG_011552.1:g.13352_13353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.*46_*47del MANE Select	ENSP00000225927.1:n.*46_*47del
ENST00000225927.6:c.*46_*47del	ENSP00000225927.1:n.*46_*47del
NM_000263.3:c.*46_*47del	NP_000254.2:n.*46_*47del
XM_006721920.2:c.*46_*47del	XP_006721983.1:n.*46_*47del
XM_011524840.1:c.*46_*47del	XP_011523142.1:n.*46_*47del
XM_017024687.1:c.*46_*47del	XP_016880176.1:n.*46_*47del
XM_024450771.1:c.*46_*47del	XP_024306539.1:n.*46_*47del
XM_024450772.1:c.*46_*47del	XP_024306540.1:n.*46_*47del
NM_000263.4:c.*46_*47del MANE Select	NP_000254.2:n.*46_*47del