Canonical Allele Identifier: CA2537986853

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544180del , CM000679.2:g.42544180del	GRCh38
NC_000017.10:g.40696198del , CM000679.1:g.40696198del	GRCh37
NC_000017.9:g.37949724del	NCBI36
NG_011552.1:g.13248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2174del MANE Select	ENSP00000225927.1:p.Asp725AlafsTer?
ENST00000225927.6:c.2174del	ENSP00000225927.1:p.Asp725AlafsTer?
NM_000263.3:c.2174del	NP_000254.2:p.Asp725AlafsTer?
XM_006721920.2:c.1343del	XP_006721983.1:p.Asp448AlafsTer?
XM_011524840.1:c.1175del	XP_011523142.1:p.Asp392AlafsTer?
XM_017024687.1:c.1343del	XP_016880176.1:p.Asp448AlafsTer?
XM_024450771.1:c.2231del	XP_024306539.1:p.Asp744AlafsTer?
XM_024450772.1:c.1175del	XP_024306540.1:p.Asp392AlafsTer?
NM_000263.4:c.2174del MANE Select	NP_000254.2:p.Asp725AlafsTer?