Canonical Allele Identifier: CA1433071717
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003329_1003352delinsCGGCCACTGCGCCCAGGACCCGGT , CM000666.2:g.1003329_1003352delinsCGGCCACTGCGCCCAGGACCCGGT GRCh38
NC_000004.11:g.997117_997140delinsCGGCCACTGCGCCCAGGACCCGGT , CM000666.1:g.997117_997140delinsCGGCCACTGCGCCCAGGACCCGGT GRCh37
NC_000004.10:g.987117_987140delinsCGGCCACTGCGCCCAGGACCCGGT NCBI36
NG_008103.1:g.21333_21356delinsCGGCCACTGCGCCCAGGACCCGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1525-16_1532delinsCGGCCACTGCGCCCAGGACCCGGT
ENST00000514224.2:c.1525-16_1532delinsCGGCCACTGCGCCCAGGACCCGGT
ENST00000652070.1:n.1581-16_1588delinsCGGCCACTGCGCCCAGGACCCGGT
ENST00000247933.8:c.1525-16_1532delinsCGGCCACTGCGCCCAGGACCCGGT
ENST00000502829.1:n.498_521delinsCGGCCACTGCGCCCAGGACCCGGT
ENST00000514224.1:c.1129-16_1136delinsCGGCCACTGCGCCCAGGACCCGGT
ENST00000514698.5:n.1632-16_1639delinsCGGCCACTGCGCCCAGGACCCGGT
NM_000203.4:c.1525-16_1532delinsCGGCCACTGCGCCCAGGACCCGGT
NR_110313.1:n.1613-16_1620delinsCGGCCACTGCGCCCAGGACCCGGT
XM_006713882.2:c.1129-16_1136delinsCGGCCACTGCGCCCAGGACCCGGT
XM_011513459.1:c.1591-16_1598delinsCGGCCACTGCGCCCAGGACCCGGT
XM_011513460.1:c.1384-16_1391delinsCGGCCACTGCGCCCAGGACCCGGT
XM_011513461.1:c.1318-16_1325delinsCGGCCACTGCGCCCAGGACCCGGT
XM_011513462.1:c.1237-16_1244delinsCGGCCACTGCGCCCAGGACCCGGT
XM_011513463.1:c.1237-16_1244delinsCGGCCACTGCGCCCAGGACCCGGT
XR_924947.1:n.1765_1788delinsCGGCCACTGCGCCCAGGACCCGGT
NM_000203.5:c.1525-16_1532delinsCGGCCACTGCGCCCAGGACCCGGT
NM_001363576.1:c.1129-16_1136delinsCGGCCACTGCGCCCAGGACCCGGT
XM_011513461.2:c.1318-16_1325delinsCGGCCACTGCGCCCAGGACCCGGT
XM_017008163.1:c.565-16_572delinsCGGCCACTGCGCCCAGGACCCGGT