Canonical Allele Identifier: CA2695225870

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544196del , CM000679.2:g.42544196del	GRCh38
NC_000017.10:g.40696214del , CM000679.1:g.40696214del	GRCh37
NC_000017.9:g.37949740del	NCBI36
NG_011552.1:g.13264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2190del MANE Select	ENSP00000225927.1:p.Phe731SerfsTer?
ENST00000225927.6:c.2190del	ENSP00000225927.1:p.Phe731SerfsTer?
NM_000263.3:c.2190del	NP_000254.2:p.Phe731SerfsTer?
XM_006721920.2:c.1359del	XP_006721983.1:p.Phe454SerfsTer?
XM_011524840.1:c.1191del	XP_011523142.1:p.Phe398SerfsTer?
XM_017024687.1:c.1359del	XP_016880176.1:p.Phe454SerfsTer?
XM_024450771.1:c.2247del	XP_024306539.1:p.Phe750SerfsTer?
XM_024450772.1:c.1191del	XP_024306540.1:p.Phe398SerfsTer?
NM_000263.4:c.2190del MANE Select	NP_000254.2:p.Phe731SerfsTer?