Canonical Allele Identifier: CA2578014117

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003623del , CM000666.2:g.1003623del	GRCh38
NC_000004.11:g.997411del , CM000666.1:g.997411del	GRCh37
NC_000004.10:g.987411del	NCBI36
NG_008103.1:g.21627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1725del	ENSP00000247933.4:p.Lys576SerfsTer?
ENST00000514224.2:c.1725del MANE Select	ENSP00000425081.2:p.Lys576SerfsTer?
ENST00000652070.1:n.1781del
ENST00000247933.8:c.1725del	ENSP00000247933.4:p.Lys576SerfsTer?
ENST00000514224.1:c.1329del	ENSP00000425081.1:p.Lys444SerfsTer?
ENST00000514417.1:n.117del
ENST00000514698.5:n.1832del
NM_000203.4:c.1725del	NP_000194.2:p.Lys576SerfsTer?
NR_110313.1:n.1813del
XM_006713882.2:c.1329del	XP_006713945.1:p.Lys444SerfsTer?
XM_011513459.1:c.1791del	XP_011511761.1:p.Lys598SerfsTer?
XM_011513460.1:c.1584del	XP_011511762.1:p.Lys529SerfsTer?
XM_011513461.1:c.1518del	XP_011511763.1:p.Lys507SerfsTer?
XM_011513462.1:c.1437del	XP_011511764.1:p.Lys480SerfsTer?
XM_011513463.1:c.1437del	XP_011511765.1:p.Lys480SerfsTer?
XR_924947.1:n.1981del
NM_000203.5:c.1725del MANE Select	NP_000194.2:p.Lys576SerfsTer?
NM_001363576.1:c.1329del	NP_001350505.1:p.Lys444SerfsTer?
XM_011513461.2:c.1518del	XP_011511763.1:p.Lys507SerfsTer?
XM_017008163.1:c.765del	XP_016863652.1:p.Lys256SerfsTer?