Canonical Allele Identifier: CA1433068284

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001926_1001943delinsCCGCTGTGCCCCGGGCCG , CM000666.2:g.1001926_1001943delinsCCGCTGTGCCCCGGGCCG	GRCh38
NC_000004.11:g.995714_995731delinsCCGCTGTGCCCCGGGCCG , CM000666.1:g.995714_995731delinsCCGCTGTGCCCCGGGCCG	GRCh37
NC_000004.10:g.985714_985731delinsCCGCTGTGCCCCGGGCCG	NCBI36
NG_008103.1:g.19930_19947delinsCCGCTGTGCCCCGGGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.792+45_793-39delinsCCGCTGTGCCCCGGGCCG	ENSP00000247933.4:n.792+45_793-39delinsCCGCTGTGCCCCGGGCCG
ENST00000514224.2:c.792+45_793-39delinsCCGCTGTGCCCCGGGCCG MANE Select	ENSP00000425081.2:n.792+45_793-39delinsCCGCTGTGCCCCGGGCCG
ENST00000652070.1:n.848+45_849-39delinsCCGCTGTGCCCCGGGCCG
ENST00000247933.8:c.792+45_793-39delinsCCGCTGTGCCCCGGGCCG	ENSP00000247933.4:n.792+45_793-39delinsCCGCTGTGCCCCGGGCCG
ENST00000502910.5:c.651+45_652-39delinsCCGCTGTGCCCCGGGCCG	ENSP00000422952.1:n.651+45_652-39delinsCCGCTGTGCCCCGGGCCG
ENST00000514192.5:c.609+45_610-39delinsCCGCTGTGCCCCGGGCCG	ENSP00000423685.1:n.609+45_610-39delinsCCGCTGTGCCCCGGGCCG
ENST00000514224.1:c.396+45_397-39delinsCCGCTGTGCCCCGGGCCG	ENSP00000425081.1:n.396+45_397-39delinsCCGCTGTGCCCCGGGCCG
ENST00000514698.5:n.737_754delinsCCGCTGTGCCCCGGGCCG
NM_000203.4:c.792+45_793-39delinsCCGCTGTGCCCCGGGCCG	NP_000194.2:n.792+45_793-39delinsCCGCTGTGCCCCGGGCCG
NR_110313.1:n.880+45_881-39delinsCCGCTGTGCCCCGGGCCG
XM_006713882.2:c.396+45_397-39delinsCCGCTGTGCCCCGGGCCG	XP_006713945.1:n.396+45_397-39delinsCCGCTGTGCCCCGGGCCG
XM_011513459.1:c.696_713delinsCCGCTGTGCCCCGGGCCG	XP_011511761.1:p.Ser232=
XM_011513460.1:c.651+45_652-39delinsCCGCTGTGCCCCGGGCCG	XP_011511762.1:n.651+45_652-39delinsCCGCTGTGCCCCGGGCCG
XM_011513461.1:c.585+45_586-39delinsCCGCTGTGCCCCGGGCCG	XP_011511763.1:n.585+45_586-39delinsCCGCTGTGCCCCGGGCCG
XM_011513462.1:c.504+45_505-39delinsCCGCTGTGCCCCGGGCCG	XP_011511764.1:n.504+45_505-39delinsCCGCTGTGCCCCGGGCCG
XM_011513463.1:c.504+45_505-39delinsCCGCTGTGCCCCGGGCCG	XP_011511765.1:n.504+45_505-39delinsCCGCTGTGCCCCGGGCCG
XR_924947.1:n.861+45_862-39delinsCCGCTGTGCCCCGGGCCG
NM_000203.5:c.792+45_793-39delinsCCGCTGTGCCCCGGGCCG MANE Select	NP_000194.2:n.792+45_793-39delinsCCGCTGTGCCCCGGGCCG
NM_001363576.1:c.396+45_397-39delinsCCGCTGTGCCCCGGGCCG	NP_001350505.1:n.396+45_397-39delinsCCGCTGTGCCCCGGGCCG
XM_011513461.2:c.585+45_586-39delinsCCGCTGTGCCCCGGGCCG	XP_011511763.1:n.585+45_586-39delinsCCGCTGTGCCCCGGGCCG
XM_017008163.1:c.-169+45_-168-39delinsCCGCTGTGCCCCGGGCCG	XP_016863652.1:n.-169+45_-168-39delinsCCGCTGTGCCCCGGGCCG