Canonical Allele Identifier: CA1433072210

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003601_1003614delinsGGTCGGATGAACAC , CM000666.2:g.1003601_1003614delinsGGTCGGATGAACAC	GRCh38
NC_000004.11:g.997389_997402delinsGGTCGGATGAACAC , CM000666.1:g.997389_997402delinsGGTCGGATGAACAC	GRCh37
NC_000004.10:g.987389_987402delinsGGTCGGATGAACAC	NCBI36
NG_008103.1:g.21605_21618delinsGGTCGGATGAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1703_1716delinsGGTCGGATGAACAC	ENSP00000247933.4:p.Trp568=
ENST00000514224.2:c.1703_1716delinsGGTCGGATGAACAC MANE Select	ENSP00000425081.2:p.Trp568=
ENST00000652070.1:n.1759_1772delinsGGTCGGATGAACAC
ENST00000247933.8:c.1703_1716delinsGGTCGGATGAACAC	ENSP00000247933.4:p.Trp568=
ENST00000514224.1:c.1307_1320delinsGGTCGGATGAACAC	ENSP00000425081.1:p.Trp436=
ENST00000514417.1:n.95_108delinsGGTCGGATGAACAC
ENST00000514698.5:n.1810_1823delinsGGTCGGATGAACAC
NM_000203.4:c.1703_1716delinsGGTCGGATGAACAC	NP_000194.2:p.Trp568=
NR_110313.1:n.1791_1804delinsGGTCGGATGAACAC
XM_006713882.2:c.1307_1320delinsGGTCGGATGAACAC	XP_006713945.1:p.Trp436=
XM_011513459.1:c.1769_1782delinsGGTCGGATGAACAC	XP_011511761.1:p.Trp590=
XM_011513460.1:c.1562_1575delinsGGTCGGATGAACAC	XP_011511762.1:p.Trp521=
XM_011513461.1:c.1496_1509delinsGGTCGGATGAACAC	XP_011511763.1:p.Trp499=
XM_011513462.1:c.1415_1428delinsGGTCGGATGAACAC	XP_011511764.1:p.Trp472=
XM_011513463.1:c.1415_1428delinsGGTCGGATGAACAC	XP_011511765.1:p.Trp472=
XR_924947.1:n.1959_1972delinsGGTCGGATGAACAC
NM_000203.5:c.1703_1716delinsGGTCGGATGAACAC MANE Select	NP_000194.2:p.Trp568=
NM_001363576.1:c.1307_1320delinsGGTCGGATGAACAC	NP_001350505.1:p.Trp436=
XM_011513461.2:c.1496_1509delinsGGTCGGATGAACAC	XP_011511763.1:p.Trp499=
XM_017008163.1:c.743_756delinsGGTCGGATGAACAC	XP_016863652.1:p.Trp248=