Canonical Allele Identifier: CA2739269988

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001517_1001518delinsCA , CM000666.2:g.1001517_1001518delinsCA	GRCh38
NC_000004.11:g.995305_995306delinsCA , CM000666.1:g.995305_995306delinsCA	GRCh37
NC_000004.10:g.985305_985306delinsCA	NCBI36
NG_008103.1:g.19521_19522delinsCA

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.543_544delinsCA MANE Select	NP_000194.2:p.Glu182Lys
ENST00000514224.2:c.543_544delinsCA MANE Select	ENSP00000425081.2:p.Glu182Lys
NM_000203.4:c.543_544delinsCA	NP_000194.2:p.Glu182Lys
NM_001363576.1:c.147_148delinsCA	NP_001350505.1:p.Glu50Lys
NR_110313.1:n.631_632delinsCA
ENST00000247933.8:c.543_544delinsCA	ENSP00000247933.4:p.Glu182Lys
ENST00000247933.9:c.543_544delinsCA	ENSP00000247933.4:p.Glu182Lys
ENST00000502910.5:c.402_403delinsCA	ENSP00000422952.1:p.Glu135Lys
ENST00000504568.5:c.503_504delinsCA
ENST00000509948.5:c.336_337delinsCA	ENSP00000424227.1:p.Glu113Lys
ENST00000514192.5:c.360_361delinsCA	ENSP00000423685.1:p.Glu121Lys
ENST00000514224.1:c.147_148delinsCA	ENSP00000425081.1:p.Glu50Lys
ENST00000514698.5:n.443_444delinsCA
ENST00000652070.1:n.599_600delinsCA
XM_006713882.2:c.147_148delinsCA	XP_006713945.1:p.Glu50Lys
XM_011513459.1:c.402_403delinsCA	XP_011511761.1:p.Glu135Lys
XM_011513460.1:c.402_403delinsCA	XP_011511762.1:p.Glu135Lys
XM_011513461.1:c.336_337delinsCA	XP_011511763.1:p.Glu113Lys
XM_011513461.2:c.336_337delinsCA	XP_011511763.1:p.Glu113Lys
XM_011513462.1:c.255_256delinsCA	XP_011511764.1:p.Glu86Lys
XM_011513463.1:c.255_256delinsCA	XP_011511765.1:p.Glu86Lys
XM_017008163.1:c.-446_-445delinsCA	XP_016863652.1:n.-446_-445delinsCA
XR_924947.1:n.612_613delinsCA