Canonical Allele Identifier: CA1433068870

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002207_1002208delinsCG , CM000666.2:g.1002207_1002208delinsCG	GRCh38
NC_000004.11:g.995995_995996delinsCG , CM000666.1:g.995995_995996delinsCG	GRCh37
NC_000004.10:g.985995_985996delinsCG	NCBI36
NG_008103.1:g.20211_20212delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972+46_972+47delinsCG	ENSP00000247933.4:n.972+46_972+47delinsCG
ENST00000514224.2:c.972+46_972+47delinsCG MANE Select	ENSP00000425081.2:n.972+46_972+47delinsCG
ENST00000652070.1:n.1028+46_1028+47delinsCG
ENST00000247933.8:c.972+46_972+47delinsCG	ENSP00000247933.4:n.972+46_972+47delinsCG
ENST00000514224.1:c.576+46_576+47delinsCG	ENSP00000425081.1:n.576+46_576+47delinsCG
ENST00000514698.5:n.1018_1019delinsCG
NM_000203.4:c.972+46_972+47delinsCG	NP_000194.2:n.972+46_972+47delinsCG
NR_110313.1:n.1060+46_1060+47delinsCG
XM_006713882.2:c.576+46_576+47delinsCG	XP_006713945.1:n.576+46_576+47delinsCG
XM_011513459.1:c.977_978delinsCG	XP_011511761.1:p.Pro326=
XM_011513460.1:c.831+46_831+47delinsCG	XP_011511762.1:n.831+46_831+47delinsCG
XM_011513461.1:c.765+46_765+47delinsCG	XP_011511763.1:n.765+46_765+47delinsCG
XM_011513462.1:c.684+46_684+47delinsCG	XP_011511764.1:n.684+46_684+47delinsCG
XM_011513463.1:c.684+46_684+47delinsCG	XP_011511765.1:n.684+46_684+47delinsCG
XR_924947.1:n.1041+46_1041+47delinsCG
NM_000203.5:c.972+46_972+47delinsCG MANE Select	NP_000194.2:n.972+46_972+47delinsCG
NM_001363576.1:c.576+46_576+47delinsCG	NP_001350505.1:n.576+46_576+47delinsCG
XM_011513461.2:c.765+46_765+47delinsCG	XP_011511763.1:n.765+46_765+47delinsCG
XM_017008163.1:c.12+46_12+47delinsCG	XP_016863652.1:n.12+46_12+47delinsCG