Canonical Allele Identifier: CA2499217021

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1172652
• ClinVar RCV Id: RCV001526617
• dbSNP Id: rs2153022916

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003409_1003416dup , CM000666.2:g.1003409_1003416dup	GRCh38
NC_000004.11:g.997197_997204dup , CM000666.1:g.997197_997204dup	GRCh37
NC_000004.10:g.987197_987204dup	NCBI36
NG_008103.1:g.21413_21420dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1589_1596dup	ENSP00000247933.4:p.Pro533CysfsTer30
ENST00000514224.2:c.1589_1596dup MANE Select	ENSP00000425081.2:p.Pro533CysfsTer30
ENST00000652070.1:n.1645_1652dup
ENST00000247933.8:c.1589_1596dup	ENSP00000247933.4:p.Pro533CysfsTer30
ENST00000514224.1:c.1193_1200dup	ENSP00000425081.1:p.Pro401CysfsTer30
ENST00000514698.5:n.1696_1703dup
NM_000203.4:c.1589_1596dup	NP_000194.2:p.Pro533CysfsTer30
NR_110313.1:n.1677_1684dup
XM_006713882.2:c.1193_1200dup	XP_006713945.1:p.Pro401CysfsTer30
XM_011513459.1:c.1655_1662dup	XP_011511761.1:p.Pro555CysfsTer30
XM_011513460.1:c.1448_1455dup	XP_011511762.1:p.Pro486CysfsTer30
XM_011513461.1:c.1382_1389dup	XP_011511763.1:p.Pro464CysfsTer30
XM_011513462.1:c.1301_1308dup	XP_011511764.1:p.Pro437CysfsTer30
XM_011513463.1:c.1301_1308dup	XP_011511765.1:p.Pro437CysfsTer30
XR_924947.1:n.1845_1852dup
NM_000203.5:c.1589_1596dup MANE Select	NP_000194.2:p.Pro533CysfsTer30
NM_001363576.1:c.1193_1200dup	NP_001350505.1:p.Pro401CysfsTer30
XM_011513461.2:c.1382_1389dup	XP_011511763.1:p.Pro464CysfsTer30
XM_017008163.1:c.629_636dup	XP_016863652.1:p.Pro213CysfsTer30