Canonical Allele Identifier: CA645588249

Gene: NAGLU

Linked Data

• COSMIC: COSM1666056

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543874_42543875dup , CM000679.2:g.42543874_42543875dup	GRCh38
NC_000017.10:g.40695892_40695893dup , CM000679.1:g.40695892_40695893dup	GRCh37
NC_000017.9:g.37949418_37949419dup	NCBI36
NG_011552.1:g.12942_12943dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1868_1869dup MANE Select	ENSP00000225927.1:p.Gln624SerfsTer24
ENST00000225927.6:c.1868_1869dup	ENSP00000225927.1:p.Gln624SerfsTer24
ENST00000591587.1:c.1206_1207dup	ENSP00000467836.1:n.1206_1207dup
NM_000263.3:c.1868_1869dup	NP_000254.2:p.Gln624SerfsTer24
XM_006721920.2:c.1037_1038dup	XP_006721983.1:p.Gln347SerfsTer24
XM_011524840.1:c.869_870dup	XP_011523142.1:p.Gln291SerfsTer24
XM_017024687.1:c.1037_1038dup	XP_016880176.1:p.Gln347SerfsTer24
XM_024450771.1:c.1925_1926dup	XP_024306539.1:p.Gln643SerfsTer24
XM_024450772.1:c.869_870dup	XP_024306540.1:p.Gln291SerfsTer24
NM_000263.4:c.1868_1869dup MANE Select	NP_000254.2:p.Gln624SerfsTer24