Canonical Allele Identifier: CA2522203409

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543285_42543286insAT , CM000679.2:g.42543285_42543286insAT	GRCh38
NC_000017.10:g.40695303_40695304insAT , CM000679.1:g.40695303_40695304insAT	GRCh37
NC_000017.9:g.37948829_37948830insAT	NCBI36
NG_011552.1:g.12353_12354insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1279_1280insAT MANE Select	ENSP00000225927.1:p.Pro427HisfsTer14
ENST00000225927.6:c.1279_1280insAT	ENSP00000225927.1:p.Pro427HisfsTer14
ENST00000591587.1:c.617_618insAT	ENSP00000467836.1:n.617_618insAT
ENST00000592454.1:c.318_319insAT
NM_000263.3:c.1279_1280insAT	NP_000254.2:p.Pro427HisfsTer14
XM_006721920.2:c.448_449insAT	XP_006721983.1:p.Pro150HisfsTer14
XM_011524840.1:c.280_281insAT	XP_011523142.1:p.Pro94HisfsTer14
XM_017024687.1:c.448_449insAT	XP_016880176.1:p.Pro150HisfsTer14
XM_024450771.1:c.1336_1337insAT	XP_024306539.1:p.Pro446HisfsTer14
XM_024450772.1:c.280_281insAT	XP_024306540.1:p.Pro94HisfsTer14
NM_000263.4:c.1279_1280insAT MANE Select	NP_000254.2:p.Pro427HisfsTer14