Canonical Allele Identifier: CA772114579

Gene: NAGLU

Linked Data

• dbSNP Id: rs1360610165
• MyVariant Identifiers: chr17:g.40695374_40695375insA (hg19) ; chr17:g.42543356_42543357insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42543358dup , CM000679.2:g.42543358dup	GRCh38
NC_000017.10:g.40695376dup , CM000679.1:g.40695376dup	GRCh37
NC_000017.9:g.37948902dup	NCBI36
NG_011552.1:g.12426dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1352dup MANE Select	ENSP00000225927.1:p.Asn451LysfsTer10
ENST00000225927.6:c.1352dup	ENSP00000225927.1:p.Asn451LysfsTer10
ENST00000591587.1:c.690dup	ENSP00000467836.1:n.690dup
ENST00000592454.1:c.391dup
NM_000263.3:c.1352dup	NP_000254.2:p.Asn451LysfsTer10
XM_006721920.2:c.521dup	XP_006721983.1:p.Asn174LysfsTer10
XM_011524840.1:c.353dup	XP_011523142.1:p.Asn118LysfsTer10
XM_017024687.1:c.521dup	XP_016880176.1:p.Asn174LysfsTer10
XM_024450771.1:c.1409dup	XP_024306539.1:p.Asn470LysfsTer10
XM_024450772.1:c.353dup	XP_024306540.1:p.Asn118LysfsTer10
NM_000263.4:c.1352dup MANE Select	NP_000254.2:p.Asn451LysfsTer10