Canonical Allele Identifier: CA2580616051

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1456544
• ClinVar RCV Id: RCV001951202
• dbSNP Id: rs2153022390

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002384_1002385dup , CM000666.2:g.1002384_1002385dup	GRCh38
NC_000004.11:g.996172_996173dup , CM000666.1:g.996172_996173dup	GRCh37
NC_000004.10:g.986172_986173dup	NCBI36
NG_008103.1:g.20388_20389dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1088_1089dup	ENSP00000247933.4:p.Thr364AlafsTer?
ENST00000514224.2:c.1088_1089dup MANE Select	ENSP00000425081.2:p.Thr364AlafsTer?
ENST00000652070.1:n.1144_1145dup
ENST00000247933.8:c.1088_1089dup	ENSP00000247933.4:p.Thr364AlafsTer?
ENST00000514224.1:c.692_693dup	ENSP00000425081.1:p.Thr232AlafsTer?
ENST00000514698.5:n.1195_1196dup
NM_000203.4:c.1088_1089dup	NP_000194.2:p.Thr364AlafsTer?
NR_110313.1:n.1176_1177dup
XM_006713882.2:c.692_693dup	XP_006713945.1:p.Thr232AlafsTer?
XM_011513459.1:c.1154_1155dup	XP_011511761.1:p.Thr386AlafsTer?
XM_011513460.1:c.947_948dup	XP_011511762.1:p.Thr317AlafsTer?
XM_011513461.1:c.881_882dup	XP_011511763.1:p.Thr295AlafsTer?
XM_011513462.1:c.800_801dup	XP_011511764.1:p.Thr268AlafsTer?
XM_011513463.1:c.800_801dup	XP_011511765.1:p.Thr268AlafsTer?
XR_924947.1:n.1157_1158dup
NM_000203.5:c.1088_1089dup MANE Select	NP_000194.2:p.Thr364AlafsTer?
NM_001363576.1:c.692_693dup	NP_001350505.1:p.Thr232AlafsTer?
XM_011513461.2:c.881_882dup	XP_011511763.1:p.Thr295AlafsTer?
XM_017008163.1:c.128_129dup	XP_016863652.1:p.Thr44AlafsTer?