Canonical Allele Identifier: CA2760125562

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002200_1002204del , CM000666.2:g.1002200_1002204del	GRCh38
NC_000004.11:g.995988_995992del , CM000666.1:g.995988_995992del	GRCh37
NC_000004.10:g.985988_985992del	NCBI36
NG_008103.1:g.20204_20208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972+39_972+43del	ENSP00000247933.4:n.972+39_972+43del
ENST00000514224.2:c.972+39_972+43del MANE Select	ENSP00000425081.2:n.972+39_972+43del
ENST00000652070.1:n.1028+39_1028+43del
ENST00000247933.8:c.972+39_972+43del	ENSP00000247933.4:n.972+39_972+43del
ENST00000514224.1:c.576+39_576+43del	ENSP00000425081.1:n.576+39_576+43del
ENST00000514698.5:n.1011_1015del
NM_000203.4:c.972+39_972+43del	NP_000194.2:n.972+39_972+43del
NR_110313.1:n.1060+39_1060+43del
XM_006713882.2:c.576+39_576+43del	XP_006713945.1:n.576+39_576+43del
XM_011513459.1:c.970_974del	XP_011511761.1:p.Phe324ProfsTer?
XM_011513460.1:c.831+39_831+43del	XP_011511762.1:n.831+39_831+43del
XM_011513461.1:c.765+39_765+43del	XP_011511763.1:n.765+39_765+43del
XM_011513462.1:c.684+39_684+43del	XP_011511764.1:n.684+39_684+43del
XM_011513463.1:c.684+39_684+43del	XP_011511765.1:n.684+39_684+43del
XR_924947.1:n.1041+39_1041+43del
NM_000203.5:c.972+39_972+43del MANE Select	NP_000194.2:n.972+39_972+43del
NM_001363576.1:c.576+39_576+43del	NP_001350505.1:n.576+39_576+43del
XM_011513461.2:c.765+39_765+43del	XP_011511763.1:n.765+39_765+43del
XM_017008163.1:c.12+39_12+43del	XP_016863652.1:n.12+39_12+43del