Canonical Allele Identifier: CA1433067212

Gene: IDUA

Linked Data

• dbSNP Id: rs1715061891

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001394_1001400del , CM000666.2:g.1001394_1001400del	GRCh38
NC_000004.11:g.995182_995188del , CM000666.1:g.995182_995188del	GRCh37
NC_000004.10:g.985182_985188del	NCBI36
NG_008103.1:g.19398_19404del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.494-74_494-68del	ENSP00000247933.4:n.494-74_494-68del
ENST00000514224.2:c.494-74_494-68del MANE Select	ENSP00000425081.2:n.494-74_494-68del
ENST00000652070.1:n.550-74_550-68del
ENST00000247933.8:c.494-74_494-68del	ENSP00000247933.4:n.494-74_494-68del
ENST00000502910.5:c.353-74_353-68del	ENSP00000422952.1:n.353-74_353-68del
ENST00000504568.5:c.454-74_454-68del
ENST00000509948.5:c.287-74_287-68del	ENSP00000424227.1:n.287-74_287-68del
ENST00000514192.5:c.311-74_311-68del	ENSP00000423685.1:n.311-74_311-68del
ENST00000514224.1:c.98-74_98-68del	ENSP00000425081.1:n.98-74_98-68del
ENST00000514698.5:n.394-74_394-68del
NM_000203.4:c.494-74_494-68del	NP_000194.2:n.494-74_494-68del
NR_110313.1:n.582-74_582-68del
XM_006713882.2:c.98-74_98-68del	XP_006713945.1:n.98-74_98-68del
XM_011513459.1:c.353-74_353-68del	XP_011511761.1:n.353-74_353-68del
XM_011513460.1:c.353-74_353-68del	XP_011511762.1:n.353-74_353-68del
XM_011513461.1:c.287-74_287-68del	XP_011511763.1:n.287-74_287-68del
XM_011513462.1:c.206-74_206-68del	XP_011511764.1:n.206-74_206-68del
XM_011513463.1:c.206-74_206-68del	XP_011511765.1:n.206-74_206-68del
XR_924947.1:n.563-74_563-68del
NM_000203.5:c.494-74_494-68del MANE Select	NP_000194.2:n.494-74_494-68del
NM_001363576.1:c.98-74_98-68del	NP_001350505.1:n.98-74_98-68del
XM_011513461.2:c.287-74_287-68del	XP_011511763.1:n.287-74_287-68del
XM_017008163.1:c.-569_-563del	XP_016863652.1:n.-569_-563del