Canonical Allele Identifier: CA983830432

Gene: NAGLU

Linked Data

• dbSNP Id: rs2092921486
• gnomAD v3: 17-42541352-T-TG
• gnomAD v4: 17-42541352-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541353dup , CM000679.2:g.42541353dup	GRCh38
NC_000017.10:g.40693371dup , CM000679.1:g.40693371dup	GRCh37
NC_000017.9:g.37946897dup	NCBI36
NG_011552.1:g.10421dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1021+147dup MANE Select	ENSP00000225927.1:n.1021+147dup
ENST00000225927.6:c.1021+147dup	ENSP00000225927.1:n.1021+147dup
ENST00000591587.1:c.360-1675dup	ENSP00000467836.1:n.360-1675dup
ENST00000592454.1:c.116+147dup
NM_000263.3:c.1021+147dup	NP_000254.2:n.1021+147dup
XM_006721920.2:c.190+147dup	XP_006721983.1:n.190+147dup
XM_011524840.1:c.23-1675dup	XP_011523142.1:n.23-1675dup
XM_017024687.1:c.190+147dup	XP_016880176.1:n.190+147dup
XM_024450771.1:c.1078+147dup	XP_024306539.1:n.1078+147dup
XM_024450772.1:c.23-1675dup	XP_024306540.1:n.23-1675dup
NM_000263.4:c.1021+147dup MANE Select	NP_000254.2:n.1021+147dup