Canonical Allele Identifier: CA2260530662

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544214_42544215delinsCC , CM000679.2:g.42544214_42544215delinsCC	GRCh38
NC_000017.10:g.40696232_40696233delinsCC , CM000679.1:g.40696232_40696233delinsCC	GRCh37
NC_000017.9:g.37949758_37949759delinsCC	NCBI36
NG_011552.1:g.13282_13283delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2208_2209delinsCC MANE Select	ENSP00000225927.1:p.Pro736=
ENST00000225927.6:c.2208_2209delinsCC	ENSP00000225927.1:p.Pro736=
NM_000263.3:c.2208_2209delinsCC	NP_000254.2:p.Pro736=
XM_006721920.2:c.1377_1378delinsCC	XP_006721983.1:p.Pro459=
XM_011524840.1:c.1209_1210delinsCC	XP_011523142.1:p.Pro403=
XM_017024687.1:c.1377_1378delinsCC	XP_016880176.1:p.Pro459=
XM_024450771.1:c.2265_2266delinsCC	XP_024306539.1:p.Pro755=
XM_024450772.1:c.1209_1210delinsCC	XP_024306540.1:p.Pro403=
NM_000263.4:c.2208_2209delinsCC MANE Select	NP_000254.2:p.Pro736=