Canonical Allele Identifier: CA2760125561

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002195_1002196del , CM000666.2:g.1002195_1002196del	GRCh38
NC_000004.11:g.995983_995984del , CM000666.1:g.995983_995984del	GRCh37
NC_000004.10:g.985983_985984del	NCBI36
NG_008103.1:g.20199_20200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972+34_972+35del	ENSP00000247933.4:n.972+34_972+35del
ENST00000514224.2:c.972+34_972+35del MANE Select	ENSP00000425081.2:n.972+34_972+35del
ENST00000652070.1:n.1028+34_1028+35del
ENST00000247933.8:c.972+34_972+35del	ENSP00000247933.4:n.972+34_972+35del
ENST00000514224.1:c.576+34_576+35del	ENSP00000425081.1:n.576+34_576+35del
ENST00000514698.5:n.1006_1007del
NM_000203.4:c.972+34_972+35del	NP_000194.2:n.972+34_972+35del
NR_110313.1:n.1060+34_1060+35del
XM_006713882.2:c.576+34_576+35del	XP_006713945.1:n.576+34_576+35del
XM_011513459.1:c.965_966del	XP_011511761.1:p.Ala322AspfsTer?
XM_011513460.1:c.831+34_831+35del	XP_011511762.1:n.831+34_831+35del
XM_011513461.1:c.765+34_765+35del	XP_011511763.1:n.765+34_765+35del
XM_011513462.1:c.684+34_684+35del	XP_011511764.1:n.684+34_684+35del
XM_011513463.1:c.684+34_684+35del	XP_011511765.1:n.684+34_684+35del
XR_924947.1:n.1041+34_1041+35del
NM_000203.5:c.972+34_972+35del MANE Select	NP_000194.2:n.972+34_972+35del
NM_001363576.1:c.576+34_576+35del	NP_001350505.1:n.576+34_576+35del
XM_011513461.2:c.765+34_765+35del	XP_011511763.1:n.765+34_765+35del
XM_017008163.1:c.12+34_12+35del	XP_016863652.1:n.12+34_12+35del