Canonical Allele Identifier: CA919842927

Gene: NAGLU

Linked Data

• dbSNP Id: rs1599260823

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543357_42543358insC , CM000679.2:g.42543357_42543358insC	GRCh38
NC_000017.10:g.40695375_40695376insC , CM000679.1:g.40695375_40695376insC	GRCh37
NC_000017.9:g.37948901_37948902insC	NCBI36
NG_011552.1:g.12425_12426insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1351_1352insC MANE Select	ENSP00000225927.1:p.Asn451ThrfsTer10
ENST00000225927.6:c.1351_1352insC	ENSP00000225927.1:p.Asn451ThrfsTer10
ENST00000591587.1:c.689_690insC	ENSP00000467836.1:n.689_690insC
ENST00000592454.1:c.390_391insC
NM_000263.3:c.1351_1352insC	NP_000254.2:p.Asn451ThrfsTer10
XM_006721920.2:c.520_521insC	XP_006721983.1:p.Asn174ThrfsTer10
XM_011524840.1:c.352_353insC	XP_011523142.1:p.Asn118ThrfsTer10
XM_017024687.1:c.520_521insC	XP_016880176.1:p.Asn174ThrfsTer10
XM_024450771.1:c.1408_1409insC	XP_024306539.1:p.Asn470ThrfsTer10
XM_024450772.1:c.352_353insC	XP_024306540.1:p.Asn118ThrfsTer10
NM_000263.4:c.1351_1352insC MANE Select	NP_000254.2:p.Asn451ThrfsTer10