Canonical Allele Identifier: CA1433068350

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001971_1001987delinsCCCGCCCGCAGGGTGCG , CM000666.2:g.1001971_1001987delinsCCCGCCCGCAGGGTGCG	GRCh38
NC_000004.11:g.995759_995775delinsCCCGCCCGCAGGGTGCG , CM000666.1:g.995759_995775delinsCCCGCCCGCAGGGTGCG	GRCh37
NC_000004.10:g.985759_985775delinsCCCGCCCGCAGGGTGCG	NCBI36
NG_008103.1:g.19975_19991delinsCCCGCCCGCAGGGTGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.793-11_798delinsCCCGCCCGCAGGGTGCG
ENST00000514224.2:c.793-11_798delinsCCCGCCCGCAGGGTGCG
ENST00000652070.1:n.849-11_854delinsCCCGCCCGCAGGGTGCG
ENST00000247933.8:c.793-11_798delinsCCCGCCCGCAGGGTGCG
ENST00000502910.5:c.652-11_657delinsCCCGCCCGCAGGGTGCG
ENST00000514192.5:c.610-11_615delinsCCCGCCCGCAGGGTGCG
ENST00000514224.1:c.397-11_402delinsCCCGCCCGCAGGGTGCG
ENST00000514698.5:n.782_798delinsCCCGCCCGCAGGGTGCG
NM_000203.4:c.793-11_798delinsCCCGCCCGCAGGGTGCG
NR_110313.1:n.881-11_886delinsCCCGCCCGCAGGGTGCG
XM_006713882.2:c.397-11_402delinsCCCGCCCGCAGGGTGCG
XM_011513459.1:c.741_757delinsCCCGCCCGCAGGGTGCG	XP_011511761.1:p.Ala247=
XM_011513460.1:c.652-11_657delinsCCCGCCCGCAGGGTGCG
XM_011513461.1:c.586-11_591delinsCCCGCCCGCAGGGTGCG
XM_011513462.1:c.505-11_510delinsCCCGCCCGCAGGGTGCG
XM_011513463.1:c.505-11_510delinsCCCGCCCGCAGGGTGCG
XR_924947.1:n.862-11_867delinsCCCGCCCGCAGGGTGCG
NM_000203.5:c.793-11_798delinsCCCGCCCGCAGGGTGCG
NM_001363576.1:c.397-11_402delinsCCCGCCCGCAGGGTGCG
XM_011513461.2:c.586-11_591delinsCCCGCCCGCAGGGTGCG
XM_017008163.1:c.-168-11_-163delinsCCCGCCCGCAGGGTGCG