Canonical Allele Identifier: CA2573137565

Gene: IDUA

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001701_1001704del , CM000666.2:g.1001701_1001704del	GRCh38
NC_000004.11:g.995489_995492del , CM000666.1:g.995489_995492del	GRCh37
NC_000004.10:g.985489_985492del	NCBI36
NG_008103.1:g.19705_19708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.612_615del	ENSP00000247933.4:p.Cys205ArgfsTer28
ENST00000514224.2:c.612_615del MANE Select	ENSP00000425081.2:p.Cys205ArgfsTer28
ENST00000652070.1:n.668_671del
ENST00000247933.8:c.612_615del	ENSP00000247933.4:p.Cys205ArgfsTer28
ENST00000502910.5:c.471_474del	ENSP00000422952.1:p.Cys158ArgfsTer28
ENST00000504568.5:c.572_575del
ENST00000509948.5:c.405_408del	ENSP00000424227.1:p.Cys136ArgfsTer28
ENST00000514192.5:c.429_432del	ENSP00000423685.1:p.Cys144ArgfsTer28
ENST00000514224.1:c.216_219del	ENSP00000425081.1:p.Cys73ArgfsTer28
ENST00000514698.5:n.512_515del
NM_000203.4:c.612_615del	NP_000194.2:p.Cys205ArgfsTer28
NR_110313.1:n.700_703del
XM_006713882.2:c.216_219del	XP_006713945.1:p.Cys73ArgfsTer28
XM_011513459.1:c.471_474del	XP_011511761.1:p.Cys158ArgfsTer28
XM_011513460.1:c.471_474del	XP_011511762.1:p.Cys158ArgfsTer28
XM_011513461.1:c.405_408del	XP_011511763.1:p.Cys136ArgfsTer28
XM_011513462.1:c.324_327del	XP_011511764.1:p.Cys109ArgfsTer28
XM_011513463.1:c.324_327del	XP_011511765.1:p.Cys109ArgfsTer28
XR_924947.1:n.681_684del
NM_000203.5:c.612_615del MANE Select	NP_000194.2:p.Cys205ArgfsTer28
NM_001363576.1:c.216_219del	NP_001350505.1:p.Cys73ArgfsTer28
XM_011513461.2:c.405_408del	XP_011511763.1:p.Cys136ArgfsTer28
XM_017008163.1:c.-349_-346del	XP_016863652.1:n.-349_-346del