Canonical Allele Identifier: CA2637970127

Gene: NAGLU

Linked Data

• gnomAD v4: 17-42541318-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541319del , CM000679.2:g.42541319del	GRCh38
NC_000017.10:g.40693337del , CM000679.1:g.40693337del	GRCh37
NC_000017.9:g.37946863del	NCBI36
NG_011552.1:g.10387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1021+113del MANE Select	ENSP00000225927.1:n.1021+113del
ENST00000225927.6:c.1021+113del	ENSP00000225927.1:n.1021+113del
ENST00000591587.1:c.360-1709del	ENSP00000467836.1:n.360-1709del
ENST00000592454.1:c.116+113del
NM_000263.3:c.1021+113del	NP_000254.2:n.1021+113del
XM_006721920.2:c.190+113del	XP_006721983.1:n.190+113del
XM_011524840.1:c.23-1709del	XP_011523142.1:n.23-1709del
XM_017024687.1:c.190+113del	XP_016880176.1:n.190+113del
XM_024450771.1:c.1078+113del	XP_024306539.1:n.1078+113del
XM_024450772.1:c.23-1709del	XP_024306540.1:n.23-1709del
NM_000263.4:c.1021+113del MANE Select	NP_000254.2:n.1021+113del