Canonical Allele Identifier: CA2637971441

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42543673-TCCGCTACGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543676_42543684del , CM000679.2:g.42543676_42543684del	GRCh38
NC_000017.10:g.40695694_40695702del , CM000679.1:g.40695694_40695702del	GRCh37
NC_000017.9:g.37949220_37949228del	NCBI36
NG_011552.1:g.12744_12752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1670_1678del MANE Select	ENSP00000225927.1:p.Arg557_Asp559del
ENST00000225927.6:c.1670_1678del	ENSP00000225927.1:p.Arg557_Asp559del
ENST00000591587.1:c.1008_1016del	ENSP00000467836.1:n.1008_1016del
NM_000263.3:c.1670_1678del	NP_000254.2:p.Arg557_Asp559del
XM_006721920.2:c.839_847del	XP_006721983.1:p.Arg280_Asp282del
XM_011524840.1:c.671_679del	XP_011523142.1:p.Arg224_Asp226del
XM_017024687.1:c.839_847del	XP_016880176.1:p.Arg280_Asp282del
XM_024450771.1:c.1727_1735del	XP_024306539.1:p.Arg576_Asp578del
XM_024450772.1:c.671_679del	XP_024306540.1:p.Arg224_Asp226del
NM_000263.4:c.1670_1678del MANE Select	NP_000254.2:p.Arg557_Asp559del