Canonical Allele Identifier: CA913012297

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40696205_40696208del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42544187_42544190del , CM000679.2:g.42544187_42544190del	GRCh38
NC_000017.10:g.40696205_40696208del , CM000679.1:g.40696205_40696208del	GRCh37
NC_000017.9:g.37949731_37949734del	NCBI36
NG_011552.1:g.13255_13258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.2181_2184del MANE Select	ENSP00000225927.1:p.Lys728ArgfsTer?
ENST00000225927.6:c.2181_2184del	ENSP00000225927.1:p.Lys728ArgfsTer?
NM_000263.3:c.2181_2184del	NP_000254.2:p.Lys728ArgfsTer?
XM_006721920.2:c.1350_1353del	XP_006721983.1:p.Lys451ArgfsTer?
XM_011524840.1:c.1182_1185del	XP_011523142.1:p.Lys395ArgfsTer?
XM_017024687.1:c.1350_1353del	XP_016880176.1:p.Lys451ArgfsTer?
XM_024450771.1:c.2238_2241del	XP_024306539.1:p.Lys747ArgfsTer?
XM_024450772.1:c.1182_1185del	XP_024306540.1:p.Lys395ArgfsTer?
NM_000263.4:c.2181_2184del MANE Select	NP_000254.2:p.Lys728ArgfsTer?