Canonical Allele Identifier: CA2579987794

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001713_1001717dup , CM000666.2:g.1001713_1001717dup	GRCh38
NC_000004.11:g.995501_995505dup , CM000666.1:g.995501_995505dup	GRCh37
NC_000004.10:g.985501_985505dup	NCBI36
NG_008103.1:g.19717_19721dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.624_628dup	ENSP00000247933.4:p.Arg210LeufsTer26
ENST00000514224.2:c.624_628dup MANE Select	ENSP00000425081.2:p.Arg210LeufsTer26
ENST00000652070.1:n.680_684dup
ENST00000247933.8:c.624_628dup	ENSP00000247933.4:p.Arg210LeufsTer26
ENST00000502910.5:c.483_487dup	ENSP00000422952.1:p.Arg163LeufsTer26
ENST00000509948.5:c.417_421dup	ENSP00000424227.1:p.Arg141LeufsTer26
ENST00000514192.5:c.441_445dup	ENSP00000423685.1:p.Arg149LeufsTer26
ENST00000514224.1:c.228_232dup	ENSP00000425081.1:p.Arg78LeufsTer26
ENST00000514698.5:n.524_528dup
NM_000203.4:c.624_628dup	NP_000194.2:p.Arg210LeufsTer26
NR_110313.1:n.712_716dup
XM_006713882.2:c.228_232dup	XP_006713945.1:p.Arg78LeufsTer26
XM_011513459.1:c.483_487dup	XP_011511761.1:p.Arg163LeufsTer26
XM_011513460.1:c.483_487dup	XP_011511762.1:p.Arg163LeufsTer26
XM_011513461.1:c.417_421dup	XP_011511763.1:p.Arg141LeufsTer26
XM_011513462.1:c.336_340dup	XP_011511764.1:p.Arg114LeufsTer26
XM_011513463.1:c.336_340dup	XP_011511765.1:p.Arg114LeufsTer26
XR_924947.1:n.693_697dup
NM_000203.5:c.624_628dup MANE Select	NP_000194.2:p.Arg210LeufsTer26
NM_001363576.1:c.228_232dup	NP_001350505.1:p.Arg78LeufsTer26
XM_011513461.2:c.417_421dup	XP_011511763.1:p.Arg141LeufsTer26
XM_017008163.1:c.-337_-333dup	XP_016863652.1:n.-337_-333dup