Canonical Allele Identifier: CA2578014116

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002126del , CM000666.2:g.1002126del	GRCh38
NC_000004.11:g.995914del , CM000666.1:g.995914del	GRCh37
NC_000004.10:g.985914del	NCBI36
NG_008103.1:g.20130del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.937del	ENSP00000247933.4:p.Arg313GlyfsTer4
ENST00000514224.2:c.937del MANE Select	ENSP00000425081.2:p.Arg313GlyfsTer4
ENST00000652070.1:n.993del
ENST00000247933.8:c.937del	ENSP00000247933.4:p.Arg313GlyfsTer4
ENST00000514224.1:c.541del	ENSP00000425081.1:p.Arg181GlyfsTer4
ENST00000514698.5:n.937del
NM_000203.4:c.937del	NP_000194.2:p.Arg313GlyfsTer4
NR_110313.1:n.1025del
XM_006713882.2:c.541del	XP_006713945.1:p.Arg181GlyfsTer4
XM_011513459.1:c.896del	XP_011511761.1:p.Glu299GlyfsTer?
XM_011513460.1:c.796del	XP_011511762.1:p.Arg266GlyfsTer4
XM_011513461.1:c.730del	XP_011511763.1:p.Arg244GlyfsTer4
XM_011513462.1:c.649del	XP_011511764.1:p.Arg217GlyfsTer4
XM_011513463.1:c.649del	XP_011511765.1:p.Arg217GlyfsTer4
XR_924947.1:n.1006del
NM_000203.5:c.937del MANE Select	NP_000194.2:p.Arg313GlyfsTer4
NM_001363576.1:c.541del	NP_001350505.1:p.Arg181GlyfsTer4
XM_011513461.2:c.730del	XP_011511763.1:p.Arg244GlyfsTer4
XM_017008163.1:c.-24del	XP_016863652.1:n.-24del