Canonical Allele Identifier: CA2695226063

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42538694del , CM000679.2:g.42538694del	GRCh38
NC_000017.10:g.40690712del , CM000679.1:g.40690712del	GRCh37
NC_000017.9:g.37944238del	NCBI36
NG_011552.1:g.7762del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225927.7:c.703del MANE Select	ENSP00000225927.1:p.Ser235ProfsTer4
ENST00000225927.6:c.703del	ENSP00000225927.1:p.Ser235ProfsTer4
ENST00000586516.5:c.305del
ENST00000591587.1:c.298del	ENSP00000467836.1:p.Ser100ProfsTer4
NM_000263.3:c.703del	NP_000254.2:p.Ser235ProfsTer4
XM_006721920.2:c.-40del	XP_006721983.1:n.-40del
XM_011524840.1:c.-40del	XP_011523142.1:n.-40del
XM_017024687.1:c.-40del	XP_016880176.1:n.-40del
XM_024450771.1:c.760del	XP_024306539.1:p.Ser254ProfsTer4
XM_024450772.1:c.-40del	XP_024306540.1:n.-40del
NM_000263.4:c.703del MANE Select	NP_000254.2:p.Ser235ProfsTer4