Canonical Allele Identifier: CA2559771129

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002184dup , CM000666.2:g.1002184dup	GRCh38
NC_000004.11:g.995972dup , CM000666.1:g.995972dup	GRCh37
NC_000004.10:g.985972dup	NCBI36
NG_008103.1:g.20188dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.972+23dup	ENSP00000247933.4:n.972+23dup
ENST00000514224.2:c.972+23dup MANE Select	ENSP00000425081.2:n.972+23dup
ENST00000652070.1:n.1028+23dup
ENST00000247933.8:c.972+23dup	ENSP00000247933.4:n.972+23dup
ENST00000514224.1:c.576+23dup	ENSP00000425081.1:n.576+23dup
ENST00000514698.5:n.995dup
NM_000203.4:c.972+23dup	NP_000194.2:n.972+23dup
NR_110313.1:n.1060+23dup
XM_006713882.2:c.576+23dup	XP_006713945.1:n.576+23dup
XM_011513459.1:c.954dup	XP_011511761.1:p.Arg319AlafsTer?
XM_011513460.1:c.831+23dup	XP_011511762.1:n.831+23dup
XM_011513461.1:c.765+23dup	XP_011511763.1:n.765+23dup
XM_011513462.1:c.684+23dup	XP_011511764.1:n.684+23dup
XM_011513463.1:c.684+23dup	XP_011511765.1:n.684+23dup
XR_924947.1:n.1041+23dup
NM_000203.5:c.972+23dup MANE Select	NP_000194.2:n.972+23dup
NM_001363576.1:c.576+23dup	NP_001350505.1:n.576+23dup
XM_011513461.2:c.765+23dup	XP_011511763.1:n.765+23dup
XM_017008163.1:c.12+23dup	XP_016863652.1:n.12+23dup