Canonical Allele Identifier: CA1433071864

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003447_1003457delinsCGCCCCGAGAA , CM000666.2:g.1003447_1003457delinsCGCCCCGAGAA	GRCh38
NC_000004.11:g.997235_997245delinsCGCCCCGAGAA , CM000666.1:g.997235_997245delinsCGCCCCGAGAA	GRCh37
NC_000004.10:g.987235_987245delinsCGCCCCGAGAA	NCBI36
NG_008103.1:g.21451_21461delinsCGCCCCGAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1627_1637delinsCGCCCCGAGAA	ENSP00000247933.4:p.Arg543=
ENST00000514224.2:c.1627_1637delinsCGCCCCGAGAA MANE Select	ENSP00000425081.2:p.Arg543=
ENST00000652070.1:n.1683_1693delinsCGCCCCGAGAA
ENST00000247933.8:c.1627_1637delinsCGCCCCGAGAA	ENSP00000247933.4:p.Arg543=
ENST00000514224.1:c.1231_1241delinsCGCCCCGAGAA	ENSP00000425081.1:p.Arg411=
ENST00000514417.1:n.19_29delinsCGCCCCGAGAA
ENST00000514698.5:n.1734_1744delinsCGCCCCGAGAA
NM_000203.4:c.1627_1637delinsCGCCCCGAGAA	NP_000194.2:p.Arg543=
NR_110313.1:n.1715_1725delinsCGCCCCGAGAA
XM_006713882.2:c.1231_1241delinsCGCCCCGAGAA	XP_006713945.1:p.Arg411=
XM_011513459.1:c.1693_1703delinsCGCCCCGAGAA	XP_011511761.1:p.Arg565=
XM_011513460.1:c.1486_1496delinsCGCCCCGAGAA	XP_011511762.1:p.Arg496=
XM_011513461.1:c.1420_1430delinsCGCCCCGAGAA	XP_011511763.1:p.Arg474=
XM_011513462.1:c.1339_1349delinsCGCCCCGAGAA	XP_011511764.1:p.Arg447=
XM_011513463.1:c.1339_1349delinsCGCCCCGAGAA	XP_011511765.1:p.Arg447=
XR_924947.1:n.1883_1893delinsCGCCCCGAGAA
NM_000203.5:c.1627_1637delinsCGCCCCGAGAA MANE Select	NP_000194.2:p.Arg543=
NM_001363576.1:c.1231_1241delinsCGCCCCGAGAA	NP_001350505.1:p.Arg411=
XM_011513461.2:c.1420_1430delinsCGCCCCGAGAA	XP_011511763.1:p.Arg474=
XM_017008163.1:c.667_677delinsCGCCCCGAGAA	XP_016863652.1:p.Arg223=