Canonical Allele Identifier: CA2838857984

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543366del , CM000679.2:g.42543366del	GRCh38
NC_000017.10:g.40695384del , CM000679.1:g.40695384del	GRCh37
NC_000017.9:g.37948910del	NCBI36
NG_011552.1:g.12434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1360del MANE Select	ENSP00000225927.1:p.Val454SerfsTer22
ENST00000225927.6:c.1360del	ENSP00000225927.1:p.Val454SerfsTer22
ENST00000591587.1:c.698del	ENSP00000467836.1:n.698del
ENST00000592454.1:c.399del
NM_000263.3:c.1360del	NP_000254.2:p.Val454SerfsTer22
XM_006721920.2:c.529del	XP_006721983.1:p.Val177SerfsTer22
XM_011524840.1:c.361del	XP_011523142.1:p.Val121SerfsTer22
XM_017024687.1:c.529del	XP_016880176.1:p.Val177SerfsTer22
XM_024450771.1:c.1417del	XP_024306539.1:p.Val473SerfsTer22
XM_024450772.1:c.361del	XP_024306540.1:p.Val121SerfsTer22
NM_000263.4:c.1360del MANE Select	NP_000254.2:p.Val454SerfsTer22