Canonical Allele Identifier: CA2637976289

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42544205-A-ATAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544208_42544210dup , CM000679.2:g.42544208_42544210dup	GRCh38
NC_000017.10:g.40696226_40696228dup , CM000679.1:g.40696226_40696228dup	GRCh37
NC_000017.9:g.37949752_37949754dup	NCBI36
NG_011552.1:g.13276_13278dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2202_2204dup MANE Select	ENSP00000225927.1:p.Tyr735_Pro736insTyr
ENST00000225927.6:c.2202_2204dup	ENSP00000225927.1:p.Tyr735_Pro736insTyr
NM_000263.3:c.2202_2204dup	NP_000254.2:p.Tyr735_Pro736insTyr
XM_006721920.2:c.1371_1373dup	XP_006721983.1:p.Tyr458_Pro459insTyr
XM_011524840.1:c.1203_1205dup	XP_011523142.1:p.Tyr402_Pro403insTyr
XM_017024687.1:c.1371_1373dup	XP_016880176.1:p.Tyr458_Pro459insTyr
XM_024450771.1:c.2259_2261dup	XP_024306539.1:p.Tyr754_Pro755insTyr
XM_024450772.1:c.1203_1205dup	XP_024306540.1:p.Tyr402_Pro403insTyr
NM_000263.4:c.2202_2204dup MANE Select	NP_000254.2:p.Tyr735_Pro736insTyr