Canonical Allele Identifier: CA2637976274

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42543950-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543951dup , CM000679.2:g.42543951dup	GRCh38
NC_000017.10:g.40695969dup , CM000679.1:g.40695969dup	GRCh37
NC_000017.9:g.37949495dup	NCBI36
NG_011552.1:g.13019dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1945dup MANE Select	ENSP00000225927.1:p.Trp649LeufsTer?
ENST00000225927.6:c.1945dup	ENSP00000225927.1:p.Trp649LeufsTer?
ENST00000591587.1:c.1283dup	ENSP00000467836.1:n.1283dup
NM_000263.3:c.1945dup	NP_000254.2:p.Trp649LeufsTer?
XM_006721920.2:c.1114dup	XP_006721983.1:p.Trp372LeufsTer?
XM_011524840.1:c.946dup	XP_011523142.1:p.Trp316LeufsTer?
XM_017024687.1:c.1114dup	XP_016880176.1:p.Trp372LeufsTer?
XM_024450771.1:c.2002dup	XP_024306539.1:p.Trp668LeufsTer?
XM_024450772.1:c.946dup	XP_024306540.1:p.Trp316LeufsTer?
NM_000263.4:c.1945dup MANE Select	NP_000254.2:p.Trp649LeufsTer?