Canonical Allele Identifier: CA2576276094

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543951_42543953del , CM000679.2:g.42543951_42543953del	GRCh38
NC_000017.10:g.40695969_40695971del , CM000679.1:g.40695969_40695971del	GRCh37
NC_000017.9:g.37949495_37949497del	NCBI36
NG_011552.1:g.13019_13021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1945_1947del MANE Select	ENSP00000225927.1:p.Trp649del
ENST00000225927.6:c.1945_1947del	ENSP00000225927.1:p.Trp649del
ENST00000591587.1:c.1283_1285del	ENSP00000467836.1:n.1283_1285del
NM_000263.3:c.1945_1947del	NP_000254.2:p.Trp649del
XM_006721920.2:c.1114_1116del	XP_006721983.1:p.Trp372del
XM_011524840.1:c.946_948del	XP_011523142.1:p.Trp316del
XM_017024687.1:c.1114_1116del	XP_016880176.1:p.Trp372del
XM_024450771.1:c.2002_2004del	XP_024306539.1:p.Trp668del
XM_024450772.1:c.946_948del	XP_024306540.1:p.Trp316del
NM_000263.4:c.1945_1947del MANE Select	NP_000254.2:p.Trp649del