Canonical Allele Identifier: CA1433068829

Gene: IDUA

Linked Data

• dbSNP Id: rs1715127834

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002173del , CM000666.2:g.1002173del	GRCh38
NC_000004.11:g.995961del , CM000666.1:g.995961del	GRCh37
NC_000004.10:g.985961del	NCBI36
NG_008103.1:g.20177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.972+12del	ENSP00000247933.4:n.972+12del
ENST00000514224.2:c.972+12del MANE Select	ENSP00000425081.2:n.972+12del
ENST00000652070.1:n.1028+12del
ENST00000247933.8:c.972+12del	ENSP00000247933.4:n.972+12del
ENST00000514224.1:c.576+12del	ENSP00000425081.1:n.576+12del
ENST00000514698.5:n.984del
NM_000203.4:c.972+12del	NP_000194.2:n.972+12del
NR_110313.1:n.1060+12del
XM_006713882.2:c.576+12del	XP_006713945.1:n.576+12del
XM_011513459.1:c.943del	XP_011511761.1:p.Gln315AsnfsTer?
XM_011513460.1:c.831+12del	XP_011511762.1:n.831+12del
XM_011513461.1:c.765+12del	XP_011511763.1:n.765+12del
XM_011513462.1:c.684+12del	XP_011511764.1:n.684+12del
XM_011513463.1:c.684+12del	XP_011511765.1:n.684+12del
XR_924947.1:n.1041+12del
NM_000203.5:c.972+12del MANE Select	NP_000194.2:n.972+12del
NM_001363576.1:c.576+12del	NP_001350505.1:n.576+12del
XM_011513461.2:c.765+12del	XP_011511763.1:n.765+12del
XM_017008163.1:c.12+12del	XP_016863652.1:n.12+12del