Canonical Allele Identifier: CA2586973521

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001548del , CM000666.2:g.1001548del	GRCh38
NC_000004.11:g.995336del , CM000666.1:g.995336del	GRCh37
NC_000004.10:g.985336del	NCBI36
NG_008103.1:g.19552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.574del	ENSP00000247933.4:p.Ser192ProfsTer2
ENST00000514224.2:c.574del MANE Select	ENSP00000425081.2:p.Ser192ProfsTer2
ENST00000652070.1:n.630del
ENST00000247933.8:c.574del	ENSP00000247933.4:p.Ser192ProfsTer2
ENST00000502910.5:c.433del	ENSP00000422952.1:p.Ser145ProfsTer2
ENST00000504568.5:c.534del
ENST00000509948.5:c.367del	ENSP00000424227.1:p.Ser123ProfsTer2
ENST00000514192.5:c.391del	ENSP00000423685.1:p.Ser131ProfsTer2
ENST00000514224.1:c.178del	ENSP00000425081.1:p.Ser60ProfsTer2
ENST00000514698.5:n.474del
NM_000203.4:c.574del	NP_000194.2:p.Ser192ProfsTer2
NR_110313.1:n.662del
XM_006713882.2:c.178del	XP_006713945.1:p.Ser60ProfsTer2
XM_011513459.1:c.433del	XP_011511761.1:p.Ser145ProfsTer2
XM_011513460.1:c.433del	XP_011511762.1:p.Ser145ProfsTer2
XM_011513461.1:c.367del	XP_011511763.1:p.Ser123ProfsTer2
XM_011513462.1:c.286del	XP_011511764.1:p.Ser96ProfsTer2
XM_011513463.1:c.286del	XP_011511765.1:p.Ser96ProfsTer2
XR_924947.1:n.643del
NM_000203.5:c.574del MANE Select	NP_000194.2:p.Ser192ProfsTer2
NM_001363576.1:c.178del	NP_001350505.1:p.Ser60ProfsTer2
XM_011513461.2:c.367del	XP_011511763.1:p.Ser123ProfsTer2
XM_017008163.1:c.-415del	XP_016863652.1:n.-415del