Canonical Allele Identifier: CA1433068840

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002182_1002183delinsGC , CM000666.2:g.1002182_1002183delinsGC	GRCh38
NC_000004.11:g.995970_995971delinsGC , CM000666.1:g.995970_995971delinsGC	GRCh37
NC_000004.10:g.985970_985971delinsGC	NCBI36
NG_008103.1:g.20186_20187delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.972+21_972+22delinsGC	ENSP00000247933.4:n.972+21_972+22delinsGC...
ENST00000514224.2:c.972+21_972+22delinsGC MANE Select	ENSP00000425081.2:n.972+21_972+22delinsGC...
ENST00000652070.1:n.1028+21_1028+22delinsGC
ENST00000247933.8:c.972+21_972+22delinsGC	ENSP00000247933.4:n.972+21_972+22delinsGC...
ENST00000514224.1:c.576+21_576+22delinsGC	ENSP00000425081.1:n.576+21_576+22delinsGC...
ENST00000514698.5:n.993_994delinsGC
NM_000203.4:c.972+21_972+22delinsGC	NP_000194.2:n.972+21_972+22delinsGC
NR_110313.1:n.1060+21_1060+22delinsGC
XM_006713882.2:c.576+21_576+22delinsGC	XP_006713945.1:n.576+21_576+22delinsGC
XM_011513459.1:c.952_953delinsGC	XP_011511761.1:p.Ala318=
XM_011513460.1:c.831+21_831+22delinsGC	XP_011511762.1:n.831+21_831+22delinsGC
XM_011513461.1:c.765+21_765+22delinsGC	XP_011511763.1:n.765+21_765+22delinsGC
XM_011513462.1:c.684+21_684+22delinsGC	XP_011511764.1:n.684+21_684+22delinsGC
XM_011513463.1:c.684+21_684+22delinsGC	XP_011511765.1:n.684+21_684+22delinsGC
XR_924947.1:n.1041+21_1041+22delinsGC
NM_000203.5:c.972+21_972+22delinsGC MANE Select	NP_000194.2:n.972+21_972+22delinsGC
NM_001363576.1:c.576+21_576+22delinsGC	NP_001350505.1:n.576+21_576+22delinsGC
XM_011513461.2:c.765+21_765+22delinsGC	XP_011511763.1:n.765+21_765+22delinsGC
XM_017008163.1:c.12+21_12+22delinsGC	XP_016863652.1:n.12+21_12+22delinsGC