Canonical Allele Identifier: CA2809524989

Gene: NAGLU

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42541316_42541317insCCCAAACACACCCAAC , CM000679.2:g.42541316_42541317insCCCAAACACACCCAAC	GRCh38
NC_000017.10:g.40693334_40693335insCCCAAACACACCCAAC , CM000679.1:g.40693334_40693335insCCCAAACACACCCAAC	GRCh37
NC_000017.9:g.37946860_37946861insCCCAAACACACCCAAC	NCBI36
NG_011552.1:g.10384_10385insCCCAAACACACCCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225927.7:c.1021+110_1021+111insCCCAAACACACCCAAC MANE Select	ENSP00000225927.1:n.1021+110_1021+111insCCCAAACACACCCAAC
ENST00000225927.6:c.1021+110_1021+111insCCCAAACACACCCAAC	ENSP00000225927.1:n.1021+110_1021+111insCCCAAACACACCCAAC
ENST00000591587.1:c.360-1712_360-1711insCCCAAACACACCCAAC	ENSP00000467836.1:n.360-1712_360-1711insCCCAAACACACCCAAC
ENST00000592454.1:c.116+110_116+111insCCCAAACACACCCAAC
NM_000263.3:c.1021+110_1021+111insCCCAAACACACCCAAC	NP_000254.2:n.1021+110_1021+111insCCCAAACACACCCAAC
XM_006721920.2:c.190+110_190+111insCCCAAACACACCCAAC	XP_006721983.1:n.190+110_190+111insCCCAAACACACCCAAC
XM_011524840.1:c.23-1712_23-1711insCCCAAACACACCCAAC	XP_011523142.1:n.23-1712_23-1711insCCCAAACACACCCAAC
XM_017024687.1:c.190+110_190+111insCCCAAACACACCCAAC	XP_016880176.1:n.190+110_190+111insCCCAAACACACCCAAC
XM_024450771.1:c.1078+110_1078+111insCCCAAACACACCCAAC	XP_024306539.1:n.1078+110_1078+111insCCCAAACACACCCAAC
XM_024450772.1:c.23-1712_23-1711insCCCAAACACACCCAAC	XP_024306540.1:n.23-1712_23-1711insCCCAAACACACCCAAC
NM_000263.4:c.1021+110_1021+111insCCCAAACACACCCAAC MANE Select	NP_000254.2:n.1021+110_1021+111insCCCAAACACACCCAAC