Canonical Allele Identifier: CA2573153974

Gene: NAGLU

Linked Data

• ClinVar Variation Id: 1377108
• ClinVar RCV Id: RCV001888331
• dbSNP Id: rs2143113566

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543779del , CM000679.2:g.42543779del	GRCh38
NC_000017.10:g.40695797del , CM000679.1:g.40695797del	GRCh37
NC_000017.9:g.37949323del	NCBI36
NG_011552.1:g.12847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1773del MANE Select	ENSP00000225927.1:p.Leu592Ter
ENST00000225927.6:c.1773del	ENSP00000225927.1:p.Leu592Ter
ENST00000591587.1:c.1111del	ENSP00000467836.1:n.1111del
NM_000263.3:c.1773del	NP_000254.2:p.Leu592Ter
XM_006721920.2:c.942del	XP_006721983.1:p.Leu315Ter
XM_011524840.1:c.774del	XP_011523142.1:p.Leu259Ter
XM_017024687.1:c.942del	XP_016880176.1:p.Leu315Ter
XM_024450771.1:c.1830del	XP_024306539.1:p.Leu611Ter
XM_024450772.1:c.774del	XP_024306540.1:p.Leu259Ter
NM_000263.4:c.1773del MANE Select	NP_000254.2:p.Leu592Ter