Canonical Allele Identifier: CA290778725

Gene: NAGLU

Linked Data

• dbSNP Id: rs946011344
• MyVariant Identifiers: chr17:g.40693169_40693170del (hg19) ; chr17:g.42541151_42541152del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541153_42541154del , CM000679.2:g.42541153_42541154del	GRCh38
NC_000017.10:g.40693171_40693172del , CM000679.1:g.40693171_40693172del	GRCh37
NC_000017.9:g.37946697_37946698del	NCBI36
NG_011552.1:g.10221_10222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.968_969del MANE Select	ENSP00000225927.1:p.Glu323AlafsTer13
ENST00000225927.6:c.968_969del	ENSP00000225927.1:p.Glu323AlafsTer13
ENST00000591587.1:c.360-1875_360-1874del	ENSP00000467836.1:n.360-1875_360-1874del
ENST00000592454.1:c.63_64del
NM_000263.3:c.968_969del	NP_000254.2:p.Glu323AlafsTer13
XM_006721920.2:c.137_138del	XP_006721983.1:p.Glu46AlafsTer13
XM_011524840.1:c.23-1875_23-1874del	XP_011523142.1:n.23-1875_23-1874del
XM_017024687.1:c.137_138del	XP_016880176.1:p.Glu46AlafsTer13
XM_024450771.1:c.1025_1026del	XP_024306539.1:p.Glu342AlafsTer13
XM_024450772.1:c.23-1875_23-1874del	XP_024306540.1:n.23-1875_23-1874del
NM_000263.4:c.968_969del MANE Select	NP_000254.2:p.Glu323AlafsTer13