Canonical Allele Identifier: CA2260530507

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543897_42543908delinsAGTGAGGCCGAG , CM000679.2:g.42543897_42543908delinsAGTGAGGCCGAG	GRCh38
NC_000017.10:g.40695915_40695926delinsAGTGAGGCCGAG , CM000679.1:g.40695915_40695926delinsAGTGAGGCCGAG	GRCh37
NC_000017.9:g.37949441_37949452delinsAGTGAGGCCGAG	NCBI36
NG_011552.1:g.12965_12976delinsAGTGAGGCCGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1891_1902delinsAGTGAGGCCGAG MANE Select	ENSP00000225927.1:p.Ser631=
ENST00000225927.6:c.1891_1902delinsAGTGAGGCCGAG	ENSP00000225927.1:p.Ser631=
ENST00000591587.1:c.1229_1240delinsAGTGAGGCCGAG	ENSP00000467836.1:n.1229_1240delinsAGTGAGGCCGAG
NM_000263.3:c.1891_1902delinsAGTGAGGCCGAG	NP_000254.2:p.Ser631=
XM_006721920.2:c.1060_1071delinsAGTGAGGCCGAG	XP_006721983.1:p.Ser354=
XM_011524840.1:c.892_903delinsAGTGAGGCCGAG	XP_011523142.1:p.Ser298=
XM_017024687.1:c.1060_1071delinsAGTGAGGCCGAG	XP_016880176.1:p.Ser354=
XM_024450771.1:c.1948_1959delinsAGTGAGGCCGAG	XP_024306539.1:p.Ser650=
XM_024450772.1:c.892_903delinsAGTGAGGCCGAG	XP_024306540.1:p.Ser298=
NM_000263.4:c.1891_1902delinsAGTGAGGCCGAG MANE Select	NP_000254.2:p.Ser631=