Canonical Allele Identifier: CA2980840854
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001927dup , CM000666.2:g.1001927dup GRCh38
NC_000004.11:g.995715dup , CM000666.1:g.995715dup GRCh37
NC_000004.10:g.985715dup NCBI36
NG_008103.1:g.19931dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.792+46dup ENSP00000247933.4:n.792+46dup
ENST00000514224.2:c.792+46dup MANE Select ENSP00000425081.2:n.792+46dup
ENST00000652070.1:n.848+46dup
ENST00000247933.8:c.792+46dup ENSP00000247933.4:n.792+46dup
ENST00000502910.5:c.651+46dup ENSP00000422952.1:n.651+46dup
ENST00000514192.5:c.609+46dup ENSP00000423685.1:n.609+46dup
ENST00000514224.1:c.396+46dup ENSP00000425081.1:n.396+46dup
ENST00000514698.5:n.738dup
NM_000203.4:c.792+46dup NP_000194.2:n.792+46dup
NR_110313.1:n.880+46dup
XM_006713882.2:c.396+46dup XP_006713945.1:n.396+46dup
XM_011513459.1:c.697dup XP_011511761.1:p.Arg233ProfsTer8
XM_011513460.1:c.651+46dup XP_011511762.1:n.651+46dup
XM_011513461.1:c.585+46dup XP_011511763.1:n.585+46dup
XM_011513462.1:c.504+46dup XP_011511764.1:n.504+46dup
XM_011513463.1:c.504+46dup XP_011511765.1:n.504+46dup
XR_924947.1:n.861+46dup
NM_000203.5:c.792+46dup MANE Select NP_000194.2:n.792+46dup
NM_001363576.1:c.396+46dup NP_001350505.1:n.396+46dup
XM_011513461.2:c.585+46dup XP_011511763.1:n.585+46dup
XM_017008163.1:c.-169+46dup XP_016863652.1:n.-169+46dup