Canonical Allele Identifier: CA913012296

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40696076_40696078del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544058_42544060del , CM000679.2:g.42544058_42544060del	GRCh38
NC_000017.10:g.40696076_40696078del , CM000679.1:g.40696076_40696078del	GRCh37
NC_000017.9:g.37949602_37949604del	NCBI36
NG_011552.1:g.13126_13128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2052_2054del MANE Select	ENSP00000225927.1:p.Ser685del
ENST00000225927.6:c.2052_2054del	ENSP00000225927.1:p.Ser685del
ENST00000591587.1:c.1390_1392del	ENSP00000467836.1:n.1390_1392del
NM_000263.3:c.2052_2054del	NP_000254.2:p.Ser685del
XM_006721920.2:c.1221_1223del	XP_006721983.1:p.Ser408del
XM_011524840.1:c.1053_1055del	XP_011523142.1:p.Ser352del
XM_017024687.1:c.1221_1223del	XP_016880176.1:p.Ser408del
XM_024450771.1:c.2109_2111del	XP_024306539.1:p.Ser704del
XM_024450772.1:c.1053_1055del	XP_024306540.1:p.Ser352del
NM_000263.4:c.2052_2054del MANE Select	NP_000254.2:p.Ser685del