Canonical Allele Identifier: CA919842926

Gene: NAGLU

Linked Data

• dbSNP Id: rs1599260808

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543356_42543357insCCCGC , CM000679.2:g.42543356_42543357insCCCGC	GRCh38
NC_000017.10:g.40695374_40695375insCCCGC , CM000679.1:g.40695374_40695375insCCCGC	GRCh37
NC_000017.9:g.37948900_37948901insCCCGC	NCBI36
NG_011552.1:g.12424_12425insCCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1350_1351insCCCGC MANE Select	ENSP00000225927.1:p.Asn451ProfsTer27
ENST00000225927.6:c.1350_1351insCCCGC	ENSP00000225927.1:p.Asn451ProfsTer27
ENST00000591587.1:c.688_689insCCCGC	ENSP00000467836.1:n.688_689insCCCGC
ENST00000592454.1:c.389_390insCCCGC
NM_000263.3:c.1350_1351insCCCGC	NP_000254.2:p.Asn451ProfsTer27
XM_006721920.2:c.519_520insCCCGC	XP_006721983.1:p.Asn174ProfsTer27
XM_011524840.1:c.351_352insCCCGC	XP_011523142.1:p.Asn118ProfsTer27
XM_017024687.1:c.519_520insCCCGC	XP_016880176.1:p.Asn174ProfsTer27
XM_024450771.1:c.1407_1408insCCCGC	XP_024306539.1:p.Asn470ProfsTer27
XM_024450772.1:c.351_352insCCCGC	XP_024306540.1:p.Asn118ProfsTer27
NM_000263.4:c.1350_1351insCCCGC MANE Select	NP_000254.2:p.Asn451ProfsTer27