Canonical Allele Identifier: CA2260530504

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543896_42543900delinsCAGTG , CM000679.2:g.42543896_42543900delinsCAGTG	GRCh38
NC_000017.10:g.40695914_40695918delinsCAGTG , CM000679.1:g.40695914_40695918delinsCAGTG	GRCh37
NC_000017.9:g.37949440_37949444delinsCAGTG	NCBI36
NG_011552.1:g.12964_12968delinsCAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1890_1894delinsCAGTG MANE Select	ENSP00000225927.1:p.Val630=
ENST00000225927.6:c.1890_1894delinsCAGTG	ENSP00000225927.1:p.Val630=
ENST00000591587.1:c.1228_1232delinsCAGTG	ENSP00000467836.1:n.1228_1232delinsCAGTG
NM_000263.3:c.1890_1894delinsCAGTG	NP_000254.2:p.Val630=
XM_006721920.2:c.1059_1063delinsCAGTG	XP_006721983.1:p.Val353=
XM_011524840.1:c.891_895delinsCAGTG	XP_011523142.1:p.Val297=
XM_017024687.1:c.1059_1063delinsCAGTG	XP_016880176.1:p.Val353=
XM_024450771.1:c.1947_1951delinsCAGTG	XP_024306539.1:p.Val649=
XM_024450772.1:c.891_895delinsCAGTG	XP_024306540.1:p.Val297=
NM_000263.4:c.1890_1894delinsCAGTG MANE Select	NP_000254.2:p.Val630=