Canonical Allele Identifier: CA2573137578

Gene: IDUA

Linked Data

• ClinVar Variation Id: 1452415
• ClinVar RCV Id: RCV002037654
• dbSNP Id: rs2153022895

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003366dup , CM000666.2:g.1003366dup	GRCh38
NC_000004.11:g.997154dup , CM000666.1:g.997154dup	GRCh37
NC_000004.10:g.987154dup	NCBI36
NG_008103.1:g.21370dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1546dup	ENSP00000247933.4:p.Arg516ProfsTer?
ENST00000514224.2:c.1546dup MANE Select	ENSP00000425081.2:p.Arg516ProfsTer?
ENST00000652070.1:n.1602dup
ENST00000247933.8:c.1546dup	ENSP00000247933.4:p.Arg516ProfsTer?
ENST00000502829.1:n.535dup
ENST00000514224.1:c.1150dup	ENSP00000425081.1:p.Arg384ProfsTer?
ENST00000514698.5:n.1653dup
NM_000203.4:c.1546dup	NP_000194.2:p.Arg516ProfsTer?
NR_110313.1:n.1634dup
XM_006713882.2:c.1150dup	XP_006713945.1:p.Arg384ProfsTer?
XM_011513459.1:c.1612dup	XP_011511761.1:p.Arg538ProfsTer?
XM_011513460.1:c.1405dup	XP_011511762.1:p.Arg469ProfsTer?
XM_011513461.1:c.1339dup	XP_011511763.1:p.Arg447ProfsTer?
XM_011513462.1:c.1258dup	XP_011511764.1:p.Arg420ProfsTer?
XM_011513463.1:c.1258dup	XP_011511765.1:p.Arg420ProfsTer?
XR_924947.1:n.1802dup
NM_000203.5:c.1546dup MANE Select	NP_000194.2:p.Arg516ProfsTer?
NM_001363576.1:c.1150dup	NP_001350505.1:p.Arg384ProfsTer?
XM_011513461.2:c.1339dup	XP_011511763.1:p.Arg447ProfsTer?
XM_017008163.1:c.586dup	XP_016863652.1:p.Arg196ProfsTer?