Canonical Allele Identifier: CA2695225866

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543697_42543700dup , CM000679.2:g.42543697_42543700dup	GRCh38
NC_000017.10:g.40695715_40695718dup , CM000679.1:g.40695715_40695718dup	GRCh37
NC_000017.9:g.37949241_37949244dup	NCBI36
NG_011552.1:g.12765_12768dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1691_1694dup MANE Select	ENSP00000225927.1:p.Gln566SerfsTer13
ENST00000225927.6:c.1691_1694dup	ENSP00000225927.1:p.Gln566SerfsTer13
ENST00000591587.1:c.1029_1032dup	ENSP00000467836.1:n.1029_1032dup
NM_000263.3:c.1691_1694dup	NP_000254.2:p.Gln566SerfsTer13
XM_006721920.2:c.860_863dup	XP_006721983.1:p.Gln289SerfsTer13
XM_011524840.1:c.692_695dup	XP_011523142.1:p.Gln233SerfsTer13
XM_017024687.1:c.860_863dup	XP_016880176.1:p.Gln289SerfsTer13
XM_024450771.1:c.1748_1751dup	XP_024306539.1:p.Gln585SerfsTer13
XM_024450772.1:c.692_695dup	XP_024306540.1:p.Gln233SerfsTer13
NM_000263.4:c.1691_1694dup MANE Select	NP_000254.2:p.Gln566SerfsTer13