Canonical Allele Identifier: CA500216616

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541059_42541061delinsCGT , CM000679.2:g.42541059_42541061delinsCGT	GRCh38
NC_000017.10:g.40693077_40693079delinsCGT , CM000679.1:g.40693077_40693079delinsCGT	GRCh37
NC_000017.9:g.37946603_37946605delinsCGT	NCBI36
NG_011552.1:g.10127_10129delinsCGT

Transcript Alleles

HGVS	Amino-acid Change
NM_000263.4:c.874_876delinsCGT MANE Select	NP_000254.2:p.Gly292Arg
ENST00000225927.7:c.874_876delinsCGT MANE Select	ENSP00000225927.1:p.Gly292Arg
NM_000263.3:c.874_876delinsCGT	NP_000254.2:p.Gly292Arg
ENST00000225927.6:c.874_876delinsCGT	ENSP00000225927.1:p.Gly292Arg
ENST00000586516.5:c.476_478delinsCGT
ENST00000591587.1:c.360-1969_360-1967delinsCGT	ENSP00000467836.1:n.360-1969_360-1967delinsCGT
XM_006721920.2:c.43_45delinsCGT	XP_006721983.1:p.Gly15Arg
XM_011524840.1:c.23-1969_23-1967delinsCGT	XP_011523142.1:n.23-1969_23-1967delinsCGT
XM_017024687.1:c.43_45delinsCGT	XP_016880176.1:p.Gly15Arg
XM_024450771.1:c.931_933delinsCGT	XP_024306539.1:p.Gly311Arg
XM_024450772.1:c.23-1969_23-1967delinsCGT	XP_024306540.1:n.23-1969_23-1967delinsCGT