Canonical Allele Identifier: CA645528486

Gene: IDUA

Linked Data

• COSMIC: COSM5018313 ; COSM5018314

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002292del , CM000666.2:g.1002292del	GRCh38
NC_000004.11:g.996080del , CM000666.1:g.996080del	GRCh37
NC_000004.10:g.986080del	NCBI36
NG_008103.1:g.20296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.996del	ENSP00000247933.4:p.Leu333TyrfsTer14
ENST00000514224.2:c.996del MANE Select	ENSP00000425081.2:p.Leu333TyrfsTer14
ENST00000652070.1:n.1052del
ENST00000247933.8:c.996del	ENSP00000247933.4:p.Leu333TyrfsTer14
ENST00000514224.1:c.600del	ENSP00000425081.1:p.Leu201TyrfsTer14
ENST00000514698.5:n.1103del
NM_000203.4:c.996del	NP_000194.2:p.Leu333TyrfsTer14
NR_110313.1:n.1084del
XM_006713882.2:c.600del	XP_006713945.1:p.Leu201TyrfsTer14
XM_011513459.1:c.1062del	XP_011511761.1:p.Leu355TyrfsTer14
XM_011513460.1:c.855del	XP_011511762.1:p.Leu286TyrfsTer14
XM_011513461.1:c.789del	XP_011511763.1:p.Leu264TyrfsTer14
XM_011513462.1:c.708del	XP_011511764.1:p.Leu237TyrfsTer14
XM_011513463.1:c.708del	XP_011511765.1:p.Leu237TyrfsTer14
XR_924947.1:n.1065del
NM_000203.5:c.996del MANE Select	NP_000194.2:p.Leu333TyrfsTer14
NM_001363576.1:c.600del	NP_001350505.1:p.Leu201TyrfsTer14
XM_011513461.2:c.789del	XP_011511763.1:p.Leu264TyrfsTer14
XM_017008163.1:c.36del	XP_016863652.1:p.Leu13TyrfsTer14