Canonical Allele Identifier: CA2260530444

Gene: NAGLU

Linked Data

• dbSNP Id: rs2092928956

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543756del , CM000679.2:g.42543756del	GRCh38
NC_000017.10:g.40695774del , CM000679.1:g.40695774del	GRCh37
NC_000017.9:g.37949300del	NCBI36
NG_011552.1:g.12824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1750del MANE Select	ENSP00000225927.1:p.Leu584Ter
ENST00000225927.6:c.1750del	ENSP00000225927.1:p.Leu584Ter
ENST00000591587.1:c.1088del	ENSP00000467836.1:n.1088del
NM_000263.3:c.1750del	NP_000254.2:p.Leu584Ter
XM_006721920.2:c.919del	XP_006721983.1:p.Leu307Ter
XM_011524840.1:c.751del	XP_011523142.1:p.Leu251Ter
XM_017024687.1:c.919del	XP_016880176.1:p.Leu307Ter
XM_024450771.1:c.1807del	XP_024306539.1:p.Leu603Ter
XM_024450772.1:c.751del	XP_024306540.1:p.Leu251Ter
NM_000263.4:c.1750del MANE Select	NP_000254.2:p.Leu584Ter