Canonical Allele Identifier: CA2637971319

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42543549-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543550dup , CM000679.2:g.42543550dup	GRCh38
NC_000017.10:g.40695568dup , CM000679.1:g.40695568dup	GRCh37
NC_000017.9:g.37949094dup	NCBI36
NG_011552.1:g.12618dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1544dup MANE Select	ENSP00000225927.1:p.Ser515ArgfsTer21
ENST00000225927.6:c.1544dup	ENSP00000225927.1:p.Ser515ArgfsTer21
ENST00000591587.1:c.882dup	ENSP00000467836.1:n.882dup
NM_000263.3:c.1544dup	NP_000254.2:p.Ser515ArgfsTer21
XM_006721920.2:c.713dup	XP_006721983.1:p.Ser238ArgfsTer21
XM_011524840.1:c.545dup	XP_011523142.1:p.Ser182ArgfsTer21
XM_017024687.1:c.713dup	XP_016880176.1:p.Ser238ArgfsTer21
XM_024450771.1:c.1601dup	XP_024306539.1:p.Ser534ArgfsTer21
XM_024450772.1:c.545dup	XP_024306540.1:p.Ser182ArgfsTer21
NM_000263.4:c.1544dup MANE Select	NP_000254.2:p.Ser515ArgfsTer21