Canonical Allele Identifier: CA2839701343

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002373dup , CM000666.2:g.1002373dup	GRCh38
NC_000004.11:g.996161dup , CM000666.1:g.996161dup	GRCh37
NC_000004.10:g.986161dup	NCBI36
NG_008103.1:g.20377dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1077dup	ENSP00000247933.4:p.Phe360LeufsTer?
ENST00000514224.2:c.1077dup MANE Select	ENSP00000425081.2:p.Phe360LeufsTer?
ENST00000652070.1:n.1133dup
ENST00000247933.8:c.1077dup	ENSP00000247933.4:p.Phe360LeufsTer?
ENST00000514224.1:c.681dup	ENSP00000425081.1:p.Phe228LeufsTer?
ENST00000514698.5:n.1184dup
NM_000203.4:c.1077dup	NP_000194.2:p.Phe360LeufsTer?
NR_110313.1:n.1165dup
XM_006713882.2:c.681dup	XP_006713945.1:p.Phe228LeufsTer?
XM_011513459.1:c.1143dup	XP_011511761.1:p.Phe382LeufsTer?
XM_011513460.1:c.936dup	XP_011511762.1:p.Phe313LeufsTer?
XM_011513461.1:c.870dup	XP_011511763.1:p.Phe291LeufsTer?
XM_011513462.1:c.789dup	XP_011511764.1:p.Phe264LeufsTer?
XM_011513463.1:c.789dup	XP_011511765.1:p.Phe264LeufsTer?
XR_924947.1:n.1146dup
NM_000203.5:c.1077dup MANE Select	NP_000194.2:p.Phe360LeufsTer?
NM_001363576.1:c.681dup	NP_001350505.1:p.Phe228LeufsTer?
XM_011513461.2:c.870dup	XP_011511763.1:p.Phe291LeufsTer?
XM_017008163.1:c.117dup	XP_016863652.1:p.Phe40LeufsTer?