Canonical Allele Identifier: CA1139665544

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 971683
• ClinVar RCV Id: RCV001247516
• dbSNP Id: rs2092931038

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544214_42544215delinsTG , CM000679.2:g.42544214_42544215delinsTG	GRCh38
NC_000017.10:g.40696232_40696233delinsTG , CM000679.1:g.40696232_40696233delinsTG	GRCh37
NC_000017.9:g.37949758_37949759delinsTG	NCBI36
NG_011552.1:g.13282_13283delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2208_2209delinsTG MANE Select	ENSP00000225927.1:p.Arg737Gly
ENST00000225927.6:c.2208_2209delinsTG	ENSP00000225927.1:p.Arg737Gly
NM_000263.3:c.2208_2209delinsTG	NP_000254.2:p.Arg737Gly
XM_006721920.2:c.1377_1378delinsTG	XP_006721983.1:p.Arg460Gly
XM_011524840.1:c.1209_1210delinsTG	XP_011523142.1:p.Arg404Gly
XM_017024687.1:c.1377_1378delinsTG	XP_016880176.1:p.Arg460Gly
XM_024450771.1:c.2265_2266delinsTG	XP_024306539.1:p.Arg756Gly
XM_024450772.1:c.1209_1210delinsTG	XP_024306540.1:p.Arg404Gly
NM_000263.4:c.2208_2209delinsTG MANE Select	NP_000254.2:p.Arg737Gly