Canonical Allele Identifier: CA913012294

Gene: NAGLU

Linked Data

• MyVariant Identifiers: chr17:g.40695915_40695926del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543897_42543908del , CM000679.2:g.42543897_42543908del	GRCh38
NC_000017.10:g.40695915_40695926del , CM000679.1:g.40695915_40695926del	GRCh37
NC_000017.9:g.37949441_37949452del	NCBI36
NG_011552.1:g.12965_12976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1891_1902del MANE Select	ENSP00000225927.1:p.Ser631_Glu634del
ENST00000225927.6:c.1891_1902del	ENSP00000225927.1:p.Ser631_Glu634del
ENST00000591587.1:c.1229_1240del	ENSP00000467836.1:n.1229_1240del
NM_000263.3:c.1891_1902del	NP_000254.2:p.Ser631_Glu634del
XM_006721920.2:c.1060_1071del	XP_006721983.1:p.Ser354_Glu357del
XM_011524840.1:c.892_903del	XP_011523142.1:p.Ser298_Glu301del
XM_017024687.1:c.1060_1071del	XP_016880176.1:p.Ser354_Glu357del
XM_024450771.1:c.1948_1959del	XP_024306539.1:p.Ser650_Glu653del
XM_024450772.1:c.892_903del	XP_024306540.1:p.Ser298_Glu301del
NM_000263.4:c.1891_1902del MANE Select	NP_000254.2:p.Ser631_Glu634del