Canonical Allele Identifier: CA2697557037

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2755171
• ClinVar RCV Id: RCV003591474

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001718_1001719delinsAG , CM000666.2:g.1001718_1001719delinsAG	GRCh38
NC_000004.11:g.995506_995507delinsAG , CM000666.1:g.995506_995507delinsAG	GRCh37
NC_000004.10:g.985506_985507delinsAG	NCBI36
NG_008103.1:g.19722_19723delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.629_630delinsAG	ENSP00000247933.4:p.Arg210Gln
ENST00000514224.2:c.629_630delinsAG MANE Select	ENSP00000425081.2:p.Arg210Gln
ENST00000652070.1:n.685_686delinsAG
ENST00000247933.8:c.629_630delinsAG	ENSP00000247933.4:p.Arg210Gln
ENST00000502910.5:c.488_489delinsAG	ENSP00000422952.1:p.Arg163Gln
ENST00000509948.5:c.422_423delinsAG	ENSP00000424227.1:p.Arg141Gln
ENST00000514192.5:c.446_447delinsAG	ENSP00000423685.1:p.Arg149Gln
ENST00000514224.1:c.233_234delinsAG	ENSP00000425081.1:p.Arg78Gln
ENST00000514698.5:n.529_530delinsAG
NM_000203.4:c.629_630delinsAG	NP_000194.2:p.Arg210Gln
NR_110313.1:n.717_718delinsAG
XM_006713882.2:c.233_234delinsAG	XP_006713945.1:p.Arg78Gln
XM_011513459.1:c.488_489delinsAG	XP_011511761.1:p.Arg163Gln
XM_011513460.1:c.488_489delinsAG	XP_011511762.1:p.Arg163Gln
XM_011513461.1:c.422_423delinsAG	XP_011511763.1:p.Arg141Gln
XM_011513462.1:c.341_342delinsAG	XP_011511764.1:p.Arg114Gln
XM_011513463.1:c.341_342delinsAG	XP_011511765.1:p.Arg114Gln
XR_924947.1:n.698_699delinsAG
NM_000203.5:c.629_630delinsAG MANE Select	NP_000194.2:p.Arg210Gln
NM_001363576.1:c.233_234delinsAG	NP_001350505.1:p.Arg78Gln
XM_011513461.2:c.422_423delinsAG	XP_011511763.1:p.Arg141Gln
XM_017008163.1:c.-332_-331delinsAG	XP_016863652.1:n.-332_-331delinsAG