Canonical Allele Identifier: CA1433068830

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002172_1002181delinsCCAACGCCCT , CM000666.2:g.1002172_1002181delinsCCAACGCCCT	GRCh38
NC_000004.11:g.995960_995969delinsCCAACGCCCT , CM000666.1:g.995960_995969delinsCCAACGCCCT	GRCh37
NC_000004.10:g.985960_985969delinsCCAACGCCCT	NCBI36
NG_008103.1:g.20176_20185delinsCCAACGCCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.972+11_972+20delinsCCAACGCCCT	ENSP00000247933.4:n.972+11_972+20delinsCC...
ENST00000514224.2:c.972+11_972+20delinsCCAACGCCCT MANE Select	ENSP00000425081.2:n.972+11_972+20delinsCC...
ENST00000652070.1:n.1028+11_1028+20delinsCCAACGCCCT
ENST00000247933.8:c.972+11_972+20delinsCCAACGCCCT	ENSP00000247933.4:n.972+11_972+20delinsCC...
ENST00000514224.1:c.576+11_576+20delinsCCAACGCCCT	ENSP00000425081.1:n.576+11_576+20delinsCC...
ENST00000514698.5:n.983_992delinsCCAACGCCCT
NM_000203.4:c.972+11_972+20delinsCCAACGCCCT	NP_000194.2:n.972+11_972+20delinsCCAACGCC...
NR_110313.1:n.1060+11_1060+20delinsCCAACGCCCT
XM_006713882.2:c.576+11_576+20delinsCCAACGCCCT	XP_006713945.1:n.576+11_576+20delinsCCAAC...
XM_011513459.1:c.942_951delinsCCAACGCCCT	XP_011511761.1:p.Ala314=
XM_011513460.1:c.831+11_831+20delinsCCAACGCCCT	XP_011511762.1:n.831+11_831+20delinsCCAAC...
XM_011513461.1:c.765+11_765+20delinsCCAACGCCCT	XP_011511763.1:n.765+11_765+20delinsCCAAC...
XM_011513462.1:c.684+11_684+20delinsCCAACGCCCT	XP_011511764.1:n.684+11_684+20delinsCCAAC...
XM_011513463.1:c.684+11_684+20delinsCCAACGCCCT	XP_011511765.1:n.684+11_684+20delinsCCAAC...
XR_924947.1:n.1041+11_1041+20delinsCCAACGCCCT
NM_000203.5:c.972+11_972+20delinsCCAACGCCCT MANE Select	NP_000194.2:n.972+11_972+20delinsCCAACGCC...
NM_001363576.1:c.576+11_576+20delinsCCAACGCCCT	NP_001350505.1:n.576+11_576+20delinsCCAAC...
XM_011513461.2:c.765+11_765+20delinsCCAACGCCCT	XP_011511763.1:n.765+11_765+20delinsCCAAC...
XM_017008163.1:c.12+11_12+20delinsCCAACGCCCT	XP_016863652.1:n.12+11_12+20delinsCCAACGC...