Canonical Allele Identifier: CA2580070696

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2004130
• ClinVar RCV Id: RCV002815878

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003611del , CM000666.2:g.1003611del	GRCh38
NC_000004.11:g.997399del , CM000666.1:g.997399del	GRCh37
NC_000004.10:g.987399del	NCBI36
NG_008103.1:g.21615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1713del	ENSP00000247933.4:p.Glu571AspfsTer?
ENST00000514224.2:c.1713del MANE Select	ENSP00000425081.2:p.Glu571AspfsTer?
ENST00000652070.1:n.1769del
ENST00000247933.8:c.1713del	ENSP00000247933.4:p.Glu571AspfsTer?
ENST00000514224.1:c.1317del	ENSP00000425081.1:p.Glu439AspfsTer?
ENST00000514417.1:n.105del
ENST00000514698.5:n.1820del
NM_000203.4:c.1713del	NP_000194.2:p.Glu571AspfsTer?
NR_110313.1:n.1801del
XM_006713882.2:c.1317del	XP_006713945.1:p.Glu439AspfsTer?
XM_011513459.1:c.1779del	XP_011511761.1:p.Glu593AspfsTer?
XM_011513460.1:c.1572del	XP_011511762.1:p.Glu524AspfsTer?
XM_011513461.1:c.1506del	XP_011511763.1:p.Glu502AspfsTer?
XM_011513462.1:c.1425del	XP_011511764.1:p.Glu475AspfsTer?
XM_011513463.1:c.1425del	XP_011511765.1:p.Glu475AspfsTer?
XR_924947.1:n.1969del
NM_000203.5:c.1713del MANE Select	NP_000194.2:p.Glu571AspfsTer?
NM_001363576.1:c.1317del	NP_001350505.1:p.Glu439AspfsTer?
XM_011513461.2:c.1506del	XP_011511763.1:p.Glu502AspfsTer?
XM_017008163.1:c.753del	XP_016863652.1:p.Glu251AspfsTer?