Canonical Allele Identifier: CA1433067966

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001803_1001814delinsGCGCCACTGCCA , CM000666.2:g.1001803_1001814delinsGCGCCACTGCCA	GRCh38
NC_000004.11:g.995591_995602delinsGCGCCACTGCCA , CM000666.1:g.995591_995602delinsGCGCCACTGCCA	GRCh37
NC_000004.10:g.985591_985602delinsGCGCCACTGCCA	NCBI36
NG_008103.1:g.19807_19818delinsGCGCCACTGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.714_725delinsGCGCCACTGCCA	ENSP00000247933.4:p.Leu238=
ENST00000514224.2:c.714_725delinsGCGCCACTGCCA MANE Select	ENSP00000425081.2:p.Leu238=
ENST00000652070.1:n.770_781delinsGCGCCACTGCCA
ENST00000247933.8:c.714_725delinsGCGCCACTGCCA	ENSP00000247933.4:p.Leu238=
ENST00000502910.5:c.573_584delinsGCGCCACTGCCA	ENSP00000422952.1:p.Leu191=
ENST00000509948.5:c.507_518delinsGCGCCACTGCCA	ENSP00000424227.1:p.Leu169=
ENST00000514192.5:c.531_542delinsGCGCCACTGCCA	ENSP00000423685.1:p.Leu177=
ENST00000514224.1:c.318_329delinsGCGCCACTGCCA	ENSP00000425081.1:p.Leu106=
ENST00000514698.5:n.614_625delinsGCGCCACTGCCA
NM_000203.4:c.714_725delinsGCGCCACTGCCA	NP_000194.2:p.Leu238=
NR_110313.1:n.802_813delinsGCGCCACTGCCA
XM_006713882.2:c.318_329delinsGCGCCACTGCCA	XP_006713945.1:p.Leu106=
XM_011513459.1:c.573_584delinsGCGCCACTGCCA	XP_011511761.1:p.Leu191=
XM_011513460.1:c.573_584delinsGCGCCACTGCCA	XP_011511762.1:p.Leu191=
XM_011513461.1:c.507_518delinsGCGCCACTGCCA	XP_011511763.1:p.Leu169=
XM_011513462.1:c.426_437delinsGCGCCACTGCCA	XP_011511764.1:p.Leu142=
XM_011513463.1:c.426_437delinsGCGCCACTGCCA	XP_011511765.1:p.Leu142=
XR_924947.1:n.783_794delinsGCGCCACTGCCA
NM_000203.5:c.714_725delinsGCGCCACTGCCA MANE Select	NP_000194.2:p.Leu238=
NM_001363576.1:c.318_329delinsGCGCCACTGCCA	NP_001350505.1:p.Leu106=
XM_011513461.2:c.507_518delinsGCGCCACTGCCA	XP_011511763.1:p.Leu169=
XM_017008163.1:c.-247_-236delinsGCGCCACTGCCA	XP_016863652.1:n.-247_-236delinsGCGCCACTGCCA