Canonical Allele Identifier: CA2695225869

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543957_42543960dup , CM000679.2:g.42543957_42543960dup	GRCh38
NC_000017.10:g.40695975_40695978dup , CM000679.1:g.40695975_40695978dup	GRCh37
NC_000017.9:g.37949501_37949504dup	NCBI36
NG_011552.1:g.13025_13028dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.1951_1954dup MANE Select	ENSP00000225927.1:p.Glu652AlafsTer?
ENST00000225927.6:c.1951_1954dup	ENSP00000225927.1:p.Glu652AlafsTer?
ENST00000591587.1:c.1289_1292dup	ENSP00000467836.1:n.1289_1292dup
NM_000263.3:c.1951_1954dup	NP_000254.2:p.Glu652AlafsTer?
XM_006721920.2:c.1120_1123dup	XP_006721983.1:p.Glu375AlafsTer?
XM_011524840.1:c.952_955dup	XP_011523142.1:p.Glu319AlafsTer?
XM_017024687.1:c.1120_1123dup	XP_016880176.1:p.Glu375AlafsTer?
XM_024450771.1:c.2008_2011dup	XP_024306539.1:p.Glu671AlafsTer?
XM_024450772.1:c.952_955dup	XP_024306540.1:p.Glu319AlafsTer?
NM_000263.4:c.1951_1954dup MANE Select	NP_000254.2:p.Glu652AlafsTer?