Canonical Allele Identifier: CA1433072316

Gene: IDUA

Linked Data

• dbSNP Id: rs1715264221
• gnomAD v4: 4-1003641-C-CGCCCCTCCCTCTGCCTGGTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003642_1003663dup , CM000666.2:g.1003642_1003663dup	GRCh38
NC_000004.11:g.997430_997451dup , CM000666.1:g.997430_997451dup	GRCh37
NC_000004.10:g.987430_987451dup	NCBI36
NG_008103.1:g.21646_21667dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1727+17_1727+38dup	ENSP00000247933.4:n.1727+17_1727+38dup
ENST00000514224.2:c.1727+17_1727+38dup MANE Select	ENSP00000425081.2:n.1727+17_1727+38dup
ENST00000652070.1:n.1783+17_1783+38dup
ENST00000247933.8:c.1727+17_1727+38dup	ENSP00000247933.4:n.1727+17_1727+38dup
ENST00000514224.1:c.1331+17_1331+38dup	ENSP00000425081.1:n.1331+17_1331+38dup
ENST00000514417.1:n.136_157dup
ENST00000514698.5:n.1838+13_1838+34dup
NM_000203.4:c.1727+17_1727+38dup	NP_000194.2:n.1727+17_1727+38dup
NR_110313.1:n.1819+13_1819+34dup
XM_006713882.2:c.1331+17_1331+38dup	XP_006713945.1:n.1331+17_1331+38dup
XM_011513459.1:c.1793+17_1793+38dup	XP_011511761.1:n.1793+17_1793+38dup
XM_011513460.1:c.1586+17_1586+38dup	XP_011511762.1:n.1586+17_1586+38dup
XM_011513461.1:c.1520+17_1520+38dup	XP_011511763.1:n.1520+17_1520+38dup
XM_011513462.1:c.1439+17_1439+38dup	XP_011511764.1:n.1439+17_1439+38dup
XM_011513463.1:c.1439+17_1439+38dup	XP_011511765.1:n.1439+17_1439+38dup
XR_924947.1:n.1987+13_1987+34dup
NM_000203.5:c.1727+17_1727+38dup MANE Select	NP_000194.2:n.1727+17_1727+38dup
NM_001363576.1:c.1331+17_1331+38dup	NP_001350505.1:n.1331+17_1331+38dup
XM_011513461.2:c.1520+17_1520+38dup	XP_011511763.1:n.1520+17_1520+38dup
XM_017008163.1:c.767+17_767+38dup	XP_016863652.1:n.767+17_767+38dup