Canonical Allele Identifier: CA1139658406

Gene: IDUA

Linked Data

• ClinVar Variation Id: 929237
• ClinVar RCV Id: RCV001194418
• dbSNP Id: rs1715179164

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002769dup , CM000666.2:g.1002769dup	GRCh38
NC_000004.11:g.996557dup , CM000666.1:g.996557dup	GRCh37
NC_000004.10:g.986557dup	NCBI36
NG_008103.1:g.20773dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1227dup	ENSP00000247933.4:p.Thr410AspfsTer?
ENST00000514224.2:c.1227dup MANE Select	ENSP00000425081.2:p.Thr410AspfsTer?
ENST00000652070.1:n.1283dup
ENST00000247933.8:c.1227dup	ENSP00000247933.4:p.Thr410AspfsTer?
ENST00000502829.1:n.29dup
ENST00000514224.1:c.831dup	ENSP00000425081.1:p.Thr278AspfsTer?
ENST00000514698.5:n.1334dup
NM_000203.4:c.1227dup	NP_000194.2:p.Thr410AspfsTer?
NR_110313.1:n.1315dup
XM_006713882.2:c.831dup	XP_006713945.1:p.Thr278AspfsTer?
XM_011513459.1:c.1293dup	XP_011511761.1:p.Thr432AspfsTer?
XM_011513460.1:c.1086dup	XP_011511762.1:p.Thr363AspfsTer?
XM_011513461.1:c.1020dup	XP_011511763.1:p.Thr341AspfsTer?
XM_011513462.1:c.939dup	XP_011511764.1:p.Thr314AspfsTer?
XM_011513463.1:c.939dup	XP_011511765.1:p.Thr314AspfsTer?
XR_924947.1:n.1296dup
NM_000203.5:c.1227dup MANE Select	NP_000194.2:p.Thr410AspfsTer?
NM_001363576.1:c.831dup	NP_001350505.1:p.Thr278AspfsTer?
XM_011513461.2:c.1020dup	XP_011511763.1:p.Thr341AspfsTer?
XM_017008163.1:c.267dup	XP_016863652.1:p.Thr90AspfsTer?