Canonical Allele Identifier: CA2260526915

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42536709_42536718delinsGCCGCTGCCA , CM000679.2:g.42536709_42536718delinsGCCGCTGCCA	GRCh38
NC_000017.10:g.40688727_40688736delinsGCCGCTGCCA , CM000679.1:g.40688727_40688736delinsGCCGCTGCCA	GRCh37
NC_000017.9:g.37942253_37942262delinsGCCGCTGCCA	NCBI36
NG_011552.1:g.5777_5786delinsGCCGCTGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.383+54_383+63delinsGCCGCTGCCA MANE Select	ENSP00000225927.1:n.383+54_383+63delinsGCCGCTGCCA
ENST00000225927.6:c.383+54_383+63delinsGCCGCTGCCA	ENSP00000225927.1:n.383+54_383+63delinsGCCGCTGCCA
ENST00000586516.5:c.133+54_133+63delinsGCCGCTGCCA
ENST00000591587.1:c.126+54_126+63delinsGCCGCTGCCA	ENSP00000467836.1:n.126+54_126+63delinsGCCGCTGCCA
NM_000263.3:c.383+54_383+63delinsGCCGCTGCCA	NP_000254.2:n.383+54_383+63delinsGCCGCTGCCA
XM_006721920.2:c.-360+54_-360+63delinsGCCGCTGCCA	XP_006721983.1:n.-360+54_-360+63delinsGCCGCTGCCA
XM_011524840.1:c.-360+54_-360+63delinsGCCGCTGCCA	XP_011523142.1:n.-360+54_-360+63delinsGCCGCTGCCA
XM_024450771.1:c.383+54_383+63delinsGCCGCTGCCA	XP_024306539.1:n.383+54_383+63delinsGCCGCTGCCA
NM_000263.4:c.383+54_383+63delinsGCCGCTGCCA MANE Select	NP_000254.2:n.383+54_383+63delinsGCCGCTGCCA