Canonical Allele Identifier: CA645588251

Gene: NAGLU

Linked Data

• COSMIC: COSM4705433

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544092_42544093del , CM000679.2:g.42544092_42544093del	GRCh38
NC_000017.10:g.40696110_40696111del , CM000679.1:g.40696110_40696111del	GRCh37
NC_000017.9:g.37949636_37949637del	NCBI36
NG_011552.1:g.13160_13161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2086_2087del MANE Select	ENSP00000225927.1:p.Gln696ValfsTer2
ENST00000225927.6:c.2086_2087del	ENSP00000225927.1:p.Gln696ValfsTer2
ENST00000591587.1:c.1424_1425del	ENSP00000467836.1:n.1424_1425del
NM_000263.3:c.2086_2087del	NP_000254.2:p.Gln696ValfsTer2
XM_006721920.2:c.1255_1256del	XP_006721983.1:p.Gln419ValfsTer2
XM_011524840.1:c.1087_1088del	XP_011523142.1:p.Gln363ValfsTer2
XM_017024687.1:c.1255_1256del	XP_016880176.1:p.Gln419ValfsTer2
XM_024450771.1:c.2143_2144del	XP_024306539.1:p.Gln715ValfsTer2
XM_024450772.1:c.1087_1088del	XP_024306540.1:p.Gln363ValfsTer2
NM_000263.4:c.2086_2087del MANE Select	NP_000254.2:p.Gln696ValfsTer2