Canonical Allele Identifier: CA1433072174
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1003587_1003598delinsGCTGGTTCTGGT , CM000666.2:g.1003587_1003598delinsGCTGGTTCTGGT GRCh38
NC_000004.11:g.997375_997386delinsGCTGGTTCTGGT , CM000666.1:g.997375_997386delinsGCTGGTTCTGGT GRCh37
NC_000004.10:g.987375_987386delinsGCTGGTTCTGGT NCBI36
NG_008103.1:g.21591_21602delinsGCTGGTTCTGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.1689_1700delinsGCTGGTTCTGGT ENSP00000247933.4:p.Gln563=
ENST00000514224.2:c.1689_1700delinsGCTGGTTCTGGT MANE Select ENSP00000425081.2:p.Gln563=
ENST00000652070.1:n.1745_1756delinsGCTGGTTCTGGT
ENST00000247933.8:c.1689_1700delinsGCTGGTTCTGGT ENSP00000247933.4:p.Gln563=
ENST00000514224.1:c.1293_1304delinsGCTGGTTCTGGT ENSP00000425081.1:p.Gln431=
ENST00000514417.1:n.81_92delinsGCTGGTTCTGGT
ENST00000514698.5:n.1796_1807delinsGCTGGTTCTGGT
NM_000203.4:c.1689_1700delinsGCTGGTTCTGGT NP_000194.2:p.Gln563=
NR_110313.1:n.1777_1788delinsGCTGGTTCTGGT
XM_006713882.2:c.1293_1304delinsGCTGGTTCTGGT XP_006713945.1:p.Gln431=
XM_011513459.1:c.1755_1766delinsGCTGGTTCTGGT XP_011511761.1:p.Gln585=
XM_011513460.1:c.1548_1559delinsGCTGGTTCTGGT XP_011511762.1:p.Gln516=
XM_011513461.1:c.1482_1493delinsGCTGGTTCTGGT XP_011511763.1:p.Gln494=
XM_011513462.1:c.1401_1412delinsGCTGGTTCTGGT XP_011511764.1:p.Gln467=
XM_011513463.1:c.1401_1412delinsGCTGGTTCTGGT XP_011511765.1:p.Gln467=
XR_924947.1:n.1945_1956delinsGCTGGTTCTGGT
NM_000203.5:c.1689_1700delinsGCTGGTTCTGGT MANE Select NP_000194.2:p.Gln563=
NM_001363576.1:c.1293_1304delinsGCTGGTTCTGGT NP_001350505.1:p.Gln431=
XM_011513461.2:c.1482_1493delinsGCTGGTTCTGGT XP_011511763.1:p.Gln494=
XM_017008163.1:c.729_740delinsGCTGGTTCTGGT XP_016863652.1:p.Gln243=