Canonical Allele Identifier: CA913185943

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003430del , CM000666.2:g.1003430del	GRCh38
NC_000004.11:g.997218del , CM000666.1:g.997218del	GRCh37
NC_000004.10:g.987218del	NCBI36
NG_008103.1:g.21434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1610del	ENSP00000247933.4:p.Leu537ArgfsTer23
ENST00000514224.2:c.1610del MANE Select	ENSP00000425081.2:p.Leu537ArgfsTer23
ENST00000652070.1:n.1666del
ENST00000247933.8:c.1610del	ENSP00000247933.4:p.Leu537ArgfsTer23
ENST00000514224.1:c.1214del	ENSP00000425081.1:p.Leu405ArgfsTer23
ENST00000514417.1:n.2del
ENST00000514698.5:n.1717del
NM_000203.4:c.1610del	NP_000194.2:p.Leu537ArgfsTer23
NR_110313.1:n.1698del
XM_006713882.2:c.1214del	XP_006713945.1:p.Leu405ArgfsTer23
XM_011513459.1:c.1676del	XP_011511761.1:p.Leu559ArgfsTer23
XM_011513460.1:c.1469del	XP_011511762.1:p.Leu490ArgfsTer23
XM_011513461.1:c.1403del	XP_011511763.1:p.Leu468ArgfsTer23
XM_011513462.1:c.1322del	XP_011511764.1:p.Leu441ArgfsTer23
XM_011513463.1:c.1322del	XP_011511765.1:p.Leu441ArgfsTer23
XR_924947.1:n.1866del
NM_000203.5:c.1610del MANE Select	NP_000194.2:p.Leu537ArgfsTer23
NM_001363576.1:c.1214del	NP_001350505.1:p.Leu405ArgfsTer23
XM_011513461.2:c.1403del	XP_011511763.1:p.Leu468ArgfsTer23
XM_017008163.1:c.650del	XP_016863652.1:p.Leu217ArgfsTer23